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 model model_rare model_exonic 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 2 2 2 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 22 2 2 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 5 2 2 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 2 2 2 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 5 2 2 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 2 2 2 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 4 2 2 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 5 2 2 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 2 2 2 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 2 2 2 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 24 3 2 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 5 2 2 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 3 2 2 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 3 2 2 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 2 2 2 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 4 2 2 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 3 2 2 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 3 2 2 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 29 3 2 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$STAT1_01 Name=CEBPB NA NA rs147085802 0.0032 0.0032 0.002 0.00359425 0.006 NA 0.0072 0.0008 0.0061 0.004 NA 0.01 0.002 0.0037 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 1.780308 1.780308 NA 0.005 0.001362 NA NA NA 8.6519666 3 2 2 12 53457585 53457585 C T exonic TENC1 NA synonymous SNV TENC1:NM_015319:exon29:c.C4179T:p.L1393L,TENC1:NM_170754:exon29:c.C4149T:p.L1383L,TENC1:NM_198316:exon29:c.C3777T:p.L1259L exonic ENSG00000111077 NA synonymous SNV ENSG00000111077:ENST00000314250:exon29:c.C4149T:p.L1383L,ENSG00000111077:ENST00000314276:exon29:c.C4179T:p.L1393L,ENSG00000111077:ENST00000379902:exon29:c.C3777T:p.L1259L,ENSG00000111077:ENST00000546602:exon29:c.C3858T:p.L1286L,ENSG00000111077:ENST00000552570:exon29:c.C4143T:p.L1381L,ENSG00000111077:ENST00000451358:exon30:c.C4119T:p.L1373L,ENSG00000111077:ENST00000549700:exon30:c.C3954T:p.L1318L Score=623;Name=lod=455 NA 12q13.13 NA Name=CTCF NA NA rs117928258 0.0046 0.0046 0.002 0.00319489 0.0089 NA 0.0072 NA 0.002 0.01 NA 0.01 NA 0.0059 0.01 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.851055 NA NA 0.008023 0.001816 NA NA NA 7.6438436 3 2 2 12 57560777 57560777 G A exonic LRP1 NA synonymous SNV LRP1:NM_002332:exon18:c.G2862A:p.T954T exonic ENSG00000123384 NA synonymous SNV ENSG00000123384:ENST00000243077:exon18:c.G2862A:p.T954T NA NA 12q13.3 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.00006593 NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0.685704 NA NA NA NA NA NA NA 6.6666007 22 2 2 17 76557994 76557994 T C exonic DNAH17 NA synonymous SNV DNAH17:NM_173628:exon12:c.A1638G:p.S546S exonic ENSG00000187775 NA synonymous SNV ENSG00000187775:ENST00000389840:exon12:c.A1638G:p.S546S,ENSG00000187775:ENST00000585328:exon12:c.A1638G:p.S546S NA NA 17q25.3 Score=772;Name=V$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 29 3 2 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 24 3 2 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 9 2 2 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 9 2 2 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 2 2 2 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 2 2 2