Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene 1000G_ALL 1000G_AFR 1000G_AMR 1000G_EAS 1000G_EUR 1000G_SAS ExAC_Freq ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS ESP6500si_ALL ESP6500si_AA ESP6500si_EA CG46 NCI60 dbSNP COSMIC_ID COSMIC_DIS ClinVar_SIG ClinVar_DIS ClinVar_ID ClinVar_DB ClinVar_DBID GWAS_DIS GWAS_OR GWAS_BETA GWAS_PUBMED GWAS_SNP GWAS_P SIFT_score SIFT_converted_rankscore SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_rankscore Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_rankscore Polyphen2_HVAR_pred LRT_score LRT_converted_rankscore LRT_pred MutationTaster_score MutationTaster_converted_rankscore MutationTaster_pred MutationAssessor_score MutationAssessor_score_rankscore MutationAssessor_pred FATHMM_score FATHMM_converted_rankscore FATHMM_pred PROVEAN_score PROVEAN_converted_rankscore PROVEAN_pred VEST3_score VEST3_rankscore MetaSVM_score MetaSVM_rankscore MetaSVM_pred MetaLR_score MetaLR_rankscore MetaLR_pred M-CAP_score M-CAP_rankscore M-CAP_pred CADD_raw CADD_raw_rankscore CADD_phred DANN_score DANN_rankscore fathmm-MKL_coding_score fathmm-MKL_coding_rankscore fathmm-MKL_coding_pred Eigen_coding_or_noncoding Eigen-raw Eigen-PC-raw GenoCanyon_score GenoCanyon_score_rankscore integrated_fitCons_score integrated_fitCons_score_rankscore integrated_confidence_value GERP++_RS GERP++_RS_rankscore phyloP100way_vertebrate phyloP100way_vertebrate_rankscore phyloP20way_mammalian phyloP20way_mammalian_rankscore phastCons100way_vertebrate phastCons100way_vertebrate_rankscore phastCons20way_mammalian phastCons20way_mammalian_rankscore SiPhy_29way_logOdds SiPhy_29way_logOdds_rankscore Interpro_domain GTEx_V6_gene GTEx_V6_tissue gnomAD_exome_ALL gnomAD_exome_AFR gnomAD_exome_AMR gnomAD_exome_ASJ gnomAD_exome_EAS gnomAD_exome_FIN gnomAD_exome_NFE gnomAD_exome_OTH gnomAD_exome_SAS gnomAD_genome_ALL gnomAD_genome_AFR gnomAD_genome_AMR gnomAD_genome_ASJ gnomAD_genome_EAS gnomAD_genome_FIN gnomAD_genome_NFE gnomAD_genome_OTH Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo Otherinfo 1 881627 881627 G A exonic NOC2L synonymous SNV NOC2L:NM_015658:exon16:c.C1843T:p.L615L 0.44 0.064 0.44 0.62 0.63 0.57 0.5653 0.1397 0.4840 0.6560 0.6221 0.6283 0.5737 0.5648 0.47 0.16 0.64 0.42 0.52 rs2272757 COSM1344685 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5703 0.1305 0.4852 0.5441 0.6577 0.6262 0.6355 0.5652 0.5650 0.4889 0.1429 0.4844 0.5265 0.6751 0.6175 0.6336 0.5855 hom 2284.93 67 1 881627 . G A 2284.93 Mask AC=2;AF=1.00;AN=2;DP=67;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.6594;MQ=59.10;MQ0=0;QD=34.10;VQSLOD=9.2260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:67:99:2318,184,0 1 881918 881918 G A exonic NOC2L nonsynonymous SNV NOC2L:NM_015658:exon15:c.C1667T:p.S556L 0.029 0.0038 0.026 . 0.057 0.069 0.0470 0.0114 0.0212 0.0002 0.0264 0.0609 0.0403 0.0657 0.046 0.015 0.062 0.011 0.057 rs35471880 . . . . . . . . . . . . . 0.036 0.433 D 0.484 0.434 P 0.183 0.343 B 0.000 0.449 D 0.999 0.463 D 2.87 0.836 M 0.92 0.445 T -3.63 0.697 D 0.091 0.196 -1.137 0.015 T 0.012 0.047 T . . . 4.347 0.582 24.1 0.995 0.667 0.974 0.743 D c -0.052 0.005 1.000 0.500 0.672 0.522 0 4.09 0.469 6.418 0.731 0.062 0.168 1.000 0.715 0.901 0.381 12.671 0.561 Armadillo-type fold . . 0.0455 0.0096 0.0207 0.0365 0.0001 0.0301 0.0631 0.0471 0.0663 0.0419 0.0131 0.0191 0.0298 0 0.0321 0.0665 0.0509 het 861.50 83 1 881918 . G A 861.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.048;DP=83;Dels=0.00;FS=1.848;HRun=1;HaplotypeScore=0.7887;MQ=58.53;MQ0=0;MQRankSum=0.265;QD=10.38;ReadPosRankSum=-0.749;VQSLOD=5.7609;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:50,33:83:99:891,0,1300 1 887801 887801 A G exonic NOC2L synonymous SNV NOC2L:NM_015658:exon10:c.T1182C:p.T394T 0.92 0.91 0.92 0.92 0.95 0.92 0.9355 0.9094 0.9558 0.9127 0.9599 0.9406 0.9521 0.9184 0.93 0.91 0.94 0.91 0.87 rs3828047 COSM426785 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9378 0.9077 0.9545 0.9346 0.9111 0.9603 0.9417 0.9395 0.9198 0.9350 0.9086 0.9487 0.9238 0.9097 0.9598 0.9459 0.9479 hom 1723.16 53 1 887801 . A G 1723.16 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8154;MQ=57.26;MQ0=0;QD=32.51;VQSLOD=6.9285;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1756,138,0 1 888639 888639 T C exonic NOC2L synonymous SNV NOC2L:NM_015658:exon9:c.A918G:p.E306E 0.92 0.91 0.92 0.92 0.95 0.92 0.9356 0.9096 0.9558 0.9124 0.9601 0.9407 0.9511 0.9184 0.93 0.91 0.94 0.91 0.87 rs3748596 COSM4144218 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9379 0.9078 0.9546 0.9346 0.9110 0.9605 0.9418 0.9397 0.9197 0.9348 0.9086 0.9487 0.9238 0.9100 0.9599 0.9456 0.9481 hom 1861.39 59 1 888639 . T C 1861.39 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.83;MQ0=0;QD=31.55;VQSLOD=7.5017;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1894,150,0 1 888659 888659 T C exonic NOC2L nonsynonymous SNV NOC2L:NM_015658:exon9:c.A898G:p.I300V 0.92 0.91 0.92 0.92 0.95 0.92 0.9355 0.9096 0.9557 0.9126 0.9600 0.9407 0.9509 0.9183 0.93 0.91 0.94 0.91 0.87 rs3748597 COSM4144219 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.070 0.216 N 1 0.090 P -1.56 0.005 N -0.39 0.692 T 0.76 0.020 N 0.031 0.089 -0.957 0.397 T 0.000 0.000 T . . . -1.330 0.021 0.004 0.237 0.010 0.042 0.096 N c -1.383 -1.178 0.029 0.139 0.672 0.522 0 4.28 0.500 0.037 0.136 0.016 0.142 0.009 0.180 0.143 0.203 7.695 0.276 Armadillo-type fold ENSG00000188976.6|ENSG00000187583.6|ENSG00000187961.9|ENSG00000188976.6|ENSG00000187583.6|ENSG00000188976.6|ENSG00000188976.6|ENSG00000187961.9|ENSG00000188976.6|ENSG00000188976.6|ENSG00000187583.6 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Lung|Lung|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.9378 0.9079 0.9546 0.9347 0.9110 0.9604 0.9417 0.9396 0.9197 0.9348 0.9086 0.9487 0.9238 0.9100 0.9599 0.9455 0.9480 hom 1257.45 39 1 888659 . T C 1257.45 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.53;MQ0=0;QD=32.24;VQSLOD=8.1358;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1290,105,0 1 897325 897325 G C exonic KLHL17 synonymous SNV KLHL17:NM_198317:exon4:c.G609C:p.A203A 0.86 0.7 0.88 0.92 0.94 0.92 0.9077 0.7210 0.9401 0.9079 0.9345 0.9261 0.9283 0.9161 0.86 0.73 0.93 0.77 0.85 rs4970441 COSM3997700 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9130 0.7136 0.9368 0.9157 0.9060 0.9370 0.9282 0.9124 0.9168 0.8705 0.7170 0.9260 0.9040 0.9035 0.9382 0.9325 0.9325 hom 4465.20 148 1 897325 . G C 4465.20 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4583;MQ=59.34;MQ0=0;QD=30.17;VQSLOD=7.0370;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,146:148:99:4430,340,0 1 909238 909238 G C exonic PLEKHN1 nonsynonymous SNV PLEKHN1:NM_001160184:exon13:c.G1355C:p.R452P,PLEKHN1:NM_032129:exon14:c.G1460C:p.R487P 0.78 0.82 0.69 0.89 0.62 0.83 0.6685 0.7890 0.6912 0.8778 0.5664 0.5916 0.6964 0.8120 0.65 0.78 0.58 0.84 0.45 rs3829740 COSM3751449;COSM3751448 1(large_intestine) . . . . . . . . . . . 0.195 0.244 T 0.0 0.026 B 0.0 0.013 B 0.414 0.130 N 1 0.090 P -1.32 0.007 N 0.99 0.418 T 1.54 0.007 N 0.035 0.088 -1.043 0.165 T 0.000 0.000 T . . . 1.098 0.200 11.20 0.505 0.043 0.001 0.005 N c -1.283 -1.227 0.009 0.118 0.646 0.450 0 2.45 0.288 -0.431 0.070 -0.400 0.062 0.000 0.063 0.008 0.104 2.650 0.047 . ENSG00000169962.4|ENSG00000187642.5 Testis|Testis 0.6685 0.7893 0.6978 0.6988 0.8786 0.5648 0.5857 0.6773 0.8111 0.6498 0.7752 0.6909 0.6689 0.8670 0.5611 0.5739 0.6066 het 1019.26 66 1 909238 . G C 1019.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.146;DP=66;Dels=0.00;FS=0.949;HRun=1;HaplotypeScore=0.9665;MQ=60.00;MQ0=0;MQRankSum=0.201;QD=15.44;ReadPosRankSum=-0.590;VQSLOD=6.1256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,38:66:99:1049,0,717 1 949654 949654 A G exonic ISG15 synonymous SNV ISG15:NM_005101:exon2:c.A294G:p.V98V 0.83 0.51 0.92 0.93 0.95 0.96 0.9122 0.5636 0.9528 0.9254 0.9472 0.9446 0.9202 0.9501 0.82 0.57 0.95 0.69 0.83 rs8997 COSM3773520 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9197 0.5601 0.9467 0.8977 0.9256 0.9504 0.9477 0.9193 0.9492 0.8403 0.5650 0.9308 0.9139 0.9216 0.9519 0.9528 0.9357 hom 2541.96 76 1 949654 . A G 2541.96 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3692;MQ=59.39;MQ0=0;QD=33.45;VQSLOD=9.1752;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2575,208,0 1 978762 978762 G A exonic AGRN nonsynonymous SNV AGRN:NM_198576:exon8:c.G1528A:p.G510S 0.003 0.0015 0.0043 . 0.0099 . 0.0083 0.0027 0.0043 0 0.0110 0.0123 0.0076 0.0019 0.0092 0.0025 0.013 . . rs138288952 COSM5353209 4(large_intestine) Benign not_specified RCV000244472.2 MedGen CN169374 . . . . . . 0.236 0.179 T 0.991 0.622 D 0.949 0.670 D 0.000 0.629 D 1.000 0.492 D 0.325 0.104 N 3.85 0.037 T -2.72 0.579 D 0.185 0.226 -0.773 0.567 T 0.014 0.056 T . . . 4.544 0.608 24.3 0.997 0.839 0.968 0.710 D c 0.188 0.171 1.000 0.473 0.732 0.924 0 4.76 0.600 3.607 0.536 1.045 0.669 1.000 0.715 0.163 0.208 17.782 0.884 Kazal domain . . 0.0076 0.0015 0.0054 0.0085 0 0.0084 0.0117 0.0098 0.0018 0.0100 0.0021 0.0072 0.0132 0 0.0092 0.0160 0.0081 het 224.89 20 1 978762 . G A 224.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.821;DP=20;Dels=0.00;FS=2.392;HRun=0;HaplotypeScore=7.6397;MQ=58.84;MQ0=0;MQRankSum=-0.222;QD=11.24;ReadPosRankSum=1.288;VQSLOD=2.8342;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:10,9:20:99:255,0,244 1 981931 981931 A G exonic AGRN synonymous SNV AGRN:NM_198576:exon18:c.A3066G:p.S1022S 0.8 0.46 0.89 0.96 0.91 0.91 0.8767 0.5130 0.9312 0.9649 0.9266 0.9018 0.8983 0.8890 0.78 0.53 0.91 0.2 0.73 rs2465128 COSM1126908 1(prostate);2(thyroid);2(large_intestine) Benign not_specified RCV000116259.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8872 0.4965 0.9296 0.8882 0.9679 0.9317 0.9055 0.8859 0.8882 0.8061 0.5008 0.9093 0.8841 0.9654 0.9337 0.9223 0.8979 hom 951.32 32 1 981931 . A G 951.32 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=29.73;VQSLOD=8.3029;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:81.24:984,81,0 1 982994 982994 T C exonic AGRN synonymous SNV AGRN:NM_198576:exon21:c.T3558C:p.F1186F 0.84 0.52 0.9 1. 0.92 0.97 0.8989 0.5354 0.9420 0.9995 0.9490 0.9151 0.9256 0.9543 0.79 0.54 0.92 0.72 0.86 rs10267 COSM4144271 1(thyroid) Benign not_specified RCV000116264.3 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9089 0.5239 0.9387 0.9222 0.9994 0.9533 0.9164 0.9101 0.9525 0.8239 0.5275 0.9248 0.9272 0.9981 0.9599 0.9313 0.9226 hom 4089.18 131 1 982994 . T C 4089.18 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7449;MQ=58.65;MQ0=0;QD=31.22;VQSLOD=7.9157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,130:131:99:4089,319,0 1 1158631 1158631 A G exonic SDF4 synonymous SNV SDF4:NM_016176:exon4:c.T570C:p.D190D,SDF4:NM_016547:exon4:c.T570C:p.D190D 0.95 1. 0.93 1. 0.86 0.96 0.9166 0.9825 0.9568 0.9998 0.8569 0.8864 0.9106 0.9499 0.92 0.98 0.89 0.96 0.79 rs6603781 COSM3750257;COSM3750258 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9139 0.9840 0.9513 0.8566 0.9998 0.8533 0.8881 0.8982 0.9484 0.9219 0.9820 0.9379 0.8278 1 0.8543 0.8957 0.9134 hom 3725.20 124 1 1158631 . A G 3725.20 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5233;MQ=60.00;MQ0=0;QD=30.04;VQSLOD=8.5809;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:124:99:3724,322,0 1 1222963 1222963 C T exonic SCNN1D synonymous SNV SCNN1D:NM_001130413:exon10:c.C1386T:p.P462P 0.009 0.0015 0.0072 . 0.02 0.018 0.0140 0.0036 0.0051 0.0002 0.0096 0.0180 0.0187 0.0227 0.014 0.0034 0.019 0.011 0.057 rs74735644 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0128 0.0031 0.0054 0.0052 0.0004 0.0107 0.0180 0.0117 0.0186 0.0128 0.0036 0.0084 0.0132 0 0.0089 0.0206 0.0153 het 1374.17 95 1 1222963 . C T 1374.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.531;DP=95;Dels=0.00;FS=3.021;HRun=0;HaplotypeScore=3.8646;MQ=60.00;MQ0=0;MQRankSum=1.578;QD=14.46;ReadPosRankSum=0.595;VQSLOD=4.4969;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,53:95:99:1404,0,1003 1 1249187 1249187 G A exonic INTS11 synonymous SNV INTS11:NM_001256462:exon7:c.C588T:p.F196F,INTS11:NM_001256463:exon7:c.C579T:p.F193F,INTS11:NM_017871:exon9:c.C882T:p.F294F,INTS11:NM_001256460:exon10:c.C795T:p.F265F,INTS11:NM_001256456:exon11:c.C900T:p.F300F 0.31 0.065 0.44 0.019 0.81 0.34 0.5791 0.1560 0.3152 0.0138 0.7382 0.7965 0.6473 0.3875 0.59 0.17 0.8 0.28 0.84 rs12142199 COSM4142284 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5798 0.1459 0.3345 0.8168 0.0142 0.7280 0.7982 0.6567 0.3927 0.5528 0.1626 0.3759 0.7616 0.0179 0.7162 0.7961 0.6884 hom 4417.18 135 1 1249187 . G A 4417.18 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=2.9937;MQ=59.38;MQ0=0;QD=32.72;VQSLOD=9.2520;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:4417,346,0 1 1254841 1254841 C G exonic INTS11 synonymous SNV INTS11:NM_017871:exon4:c.G264C:p.G88G,INTS11:NM_001256460:exon5:c.G177C:p.G59G,INTS11:NM_001256456:exon6:c.G282C:p.G94G 0.71 0.3 0.85 0.84 0.92 0.83 0.8476 0.3848 0.7911 0.8258 0.8814 0.9295 0.8330 0.8477 0.75 0.4 0.93 0.59 0.85 rs10907179 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8528 0.3695 0.7960 0.9208 0.8220 0.8757 0.9316 0.8665 0.8467 0.7582 0.3862 0.7661 0.9 0.8083 0.8683 0.9322 0.8806 hom 4734.14 141 1 1254841 . C G 4734.14 Mask AC=2;AF=1.00;AN=2;DP=141;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=3.4913;MQ=59.14;MQ0=0;QD=33.58;VQSLOD=8.7662;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4734,373,0 1 1262966 1262966 C T exonic CPTP synonymous SNV CPTP:NM_001029885:exon3:c.C468T:p.R156R 0.76 0.48 0.87 0.83 0.92 0.83 0.8716 0.6069 0.8069 0.8336 0.8795 0.9301 0.8512 0.8483 0.81 0.58 0.93 0.69 0.84 rs307349 COSM3750295 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8649 0.5567 0.8057 0.9213 0.8217 0.8673 0.9304 0.8765 0.8458 0.8070 0.5607 0.7780 0.9007 0.8083 0.8605 0.9318 0.8908 hom 1352.95 41 1 1262966 . C T 1352.95 Mask AC=2;AF=1.00;AN=2;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.00;VQSLOD=13.7986;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,40:41:99:1386,120,0 1 1269554 1269554 T C exonic TAS1R3 nonsynonymous SNV TAS1R3:NM_152228:exon6:c.T2269C:p.C757R 0.95 0.98 0.98 0.91 0.97 0.92 0.9613 0.9873 0.988 0.9128 0.9366 0.9721 0.9321 0.9239 0.98 0.99 0.97 0.98 0.78 rs307377 COSM4142285 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.048 0.233 N 1 0.090 P -2.125 0.001 N -2.22 0.871 D 4.08 0.001 N 0.026 0.165 -0.948 0.413 T 0.000 0.000 T . . . -2.119 0.007 0.001 0.506 0.043 0.083 0.141 N c -1.491 -1.411 1.000 0.462 0.421 0.056 0 -0.839 0.102 0.360 0.198 -0.332 0.074 0.075 0.220 0.351 0.246 1.084 0.015 GPCR family 3\x2c C-terminal . . 0.9604 0.9883 0.9874 0.9827 0.9124 0.9254 0.9725 0.9547 0.9216 0.9682 0.9884 0.9857 0.9702 0.9210 0.9258 0.9712 0.9561 hom 912.95 26 1 1269554 . T C 912.95 Mask AC=2;AF=1.00;AN=2;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;QD=35.11;VQSLOD=9.2646;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,26:26:78.23:946,78,0 1 1425700 1425700 T C exonic ATAD3B synonymous SNV ATAD3B:NM_001317238:exon12:c.T1263C:p.I421I,ATAD3B:NM_031921:exon14:c.T1401C:p.I467I 0.49 0.85 0.34 0.62 0.099 0.36 0.2546 0.7544 0.3993 0.6331 0.2016 0.0867 0.2287 0.3351 0.3 0.73 0.083 0.53 0.074 rs819980 COSM423664 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2497 0.7648 0.3869 0.0748 0.6298 0.2060 0.0819 0.2011 0.3355 0.3325 0.7473 0.3765 0.0894 0.6072 0.2206 0.0987 0.1959 het 1404.29 144 1 1425700 . T C 1404.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.147;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1669;MQ=58.73;MQ0=0;MQRankSum=0.018;QD=9.75;ReadPosRankSum=-1.253;VQSLOD=5.9270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,60:144:99:1434,0,2525 1 1430985 1430985 C T exonic ATAD3B nonsynonymous SNV ATAD3B:NM_001317238:exon14:c.C1597T:p.R533C,ATAD3B:NM_031921:exon16:c.C1735T:p.R579C 0.079 0.037 0.091 0.13 0.058 0.098 0.0760 0.0344 0.1495 0.1308 0.1019 0.0565 0.0824 0.0893 0.048 0.033 0.056 0.087 0.025 rs139902189 COSM3747531 1(liver) . . . . . . . . . . . 0.016 0.518 D 0.99 0.615 D 0.556 0.476 P 0.732 0.064 U 1 0.090 P 1.15 0.294 L -3.31 0.938 D -2.09 0.476 N 0.095 0.157 -0.688 0.610 T 0.024 0.103 T . . . 4.753 0.637 24.7 0.982 0.387 0.021 0.062 N c -0.734 -0.972 0.002 0.087 0.707 0.730 0 0.203 0.144 -0.688 0.052 -0.410 0.061 0.000 0.063 0.000 0.016 3.358 0.067 . ENSG00000235098.4|ENSG00000272455.1|ENSG00000215915.5|ENSG00000215915.5 Adipose_Subcutaneous|Muscle_Skeletal|Nerve_Tibial|Thyroid 0.0789 0.0352 0.1397 0.0429 0.1284 0.0988 0.0557 0.0758 0.0882 0.0657 0.0363 0.1591 0.0430 0.1252 0.1084 0.0614 0.0686 het 993.69 87 1 1430985 . C T 993.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.170;DP=87;Dels=0.00;FS=0.998;HRun=0;HaplotypeScore=3.9004;MQ=59.25;MQ0=0;MQRankSum=0.999;QD=11.42;ReadPosRankSum=-0.004;VQSLOD=4.5955;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,40:87:99:1024,0,1117 1 1479333 1479333 A G exonic SSU72 synonymous SNV SSU72:NM_014188:exon4:c.T399C:p.P133P 0.69 0.91 0.56 0.87 0.31 0.71 0.4601 0.8304 0.5888 0.8837 0.3289 0.2840 0.4447 0.6767 0.47 0.82 0.29 0.67 0.24 rs7533 COSM3747545 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4575 0.8402 0.5854 0.3190 0.8804 0.3310 0.2818 0.4077 0.6726 0.4809 0.8295 0.5477 0.31 0.8821 0.3378 0.2746 0.3697 het 1254.51 102 1 1479333 . A G 1254.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.293;DP=102;Dels=0.00;FS=2.574;HRun=2;HaplotypeScore=3.7255;MQ=58.81;MQ0=0;MQRankSum=0.405;QD=12.30;ReadPosRankSum=-0.385;VQSLOD=5.7718;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:54,48:102:99:1285,0,1488 1 1551927 1551927 T C exonic MIB2 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 0.48 0.54 0.48 0.21 0.71 0.44 0.6228 0.5830 0.3726 0.2442 0.7421 0.7375 0.6557 0.5010 0.67 0.56 0.72 0.54 0.61 rs7418389 COSM4142786 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.212 P -0.55 0.024 N 1.41 0.377 T 0.08 0.085 N 0.026 0.101 -0.931 0.440 T 0.000 0.000 T . . . -1.287 0.022 0.005 0.719 0.095 0.004 0.020 N c -1.498 -1.485 1.000 0.500 0.767 0.994 0 0.364 0.153 -0.394 0.073 -0.010 0.132 0.000 0.063 0.016 0.126 1.104 0.016 Mib-herc2 ENSG00000197530.8|ENSG00000272004.1|ENSG00000227775.3|ENSG00000189339.7|ENSG00000189339.7|ENSG00000215790.2|ENSG00000227775.3|ENSG00000189339.7|ENSG00000272004.1|ENSG00000227775.3|ENSG00000189339.7|ENSG00000272106.1|ENSG00000189339.7|ENSG00000189339.7|ENSG00000189339.7|ENSG00000197530.8|ENSG00000272004.1|ENSG00000189339.7|ENSG00000272004.1|ENSG00000189339.7|ENSG00000189339.7|ENSG00000197530.8|ENSG00000272106.1|ENSG00000272004.1|ENSG00000227775.3|ENSG00000189339.7|ENSG00000197530.8|ENSG00000215790.2|ENSG00000272004.1|ENSG00000227775.3|ENSG00000272106.1|ENSG00000189339.7|ENSG00000197530.8|ENSG00000189339.7|ENSG00000197530.8|ENSG00000228594.1|ENSG00000272106.1|ENSG00000189339.7|ENSG00000272004.1|ENSG00000189339.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.5863 0.5317 0.3624 0.7393 0.1890 0.7182 0.7163 0.6393 0.4728 0.6266 0.5437 0.3962 0.7450 0.1912 0.7187 0.7089 0.6584 hom 899.80 35 1 1551927 . T C 899.80 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3990;MQ=58.26;MQ0=0;QD=25.71;VQSLOD=5.6157;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:69.22:933,69,0 1 1558792 1558792 T C exonic MIB2 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 0.77 0.71 0.87 0.55 0.94 0.86 0.8797 0.7673 0.8125 0.6241 0.9004 0.9411 0.9115 0.8605 0.89 0.77 0.94 0.76 0.6 rs12755088 . . . . . . . . . . . . . 0.065 0.912 T 0.013 0.154 B 0.004 0.093 B 0.135 0.028 U 1 0.090 P 0 0.065 N 1.36 0.344 T 0.21 0.093 N 0.062 0.149 -1.000 0.300 T 0.000 0.000 T . . . -1.067 0.029 0.012 0.724 0.097 0.002 0.011 N c -1.343 -1.415 0.006 0.111 0.706 0.609 0 -2.47 0.060 -0.194 0.095 -1.025 0.021 0.000 0.063 0.002 0.062 4.729 0.123 Mib-herc2 ENSG00000269227.1 Thyroid 0.8679 0.7442 0.8097 0.9773 0.5707 0.8976 0.9381 0.9039 0.8568 0.8553 0.7507 0.8086 0.9868 0.5646 0.8940 0.9356 0.8965 hom 357.42 16 1 1558792 . T C 357.42 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=22.34;VQSLOD=13.1025;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:33.08:390,33,0 1 1647893 1647893 - TTTCTT exonic CDK11A;CDK11B nonframeshift insertion CDK11B:NM_001291345:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11A:NM_001313896:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11A:NM_001313982:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11B:NM_001787:exon5:c.379_380insAAGAAA:p.E126_R127insKE,CDK11A:NM_024011:exon5:c.379_380insAAGAAA:p.E126_R127insKE,CDK11B:NM_033486:exon5:c.379_380insAAGAAA:p.E126_R127insKE,CDK11A:NM_033529:exon5:c.349_350insAAGAAA:p.E116_R117insKE,CDK11B:NM_033489:exon6:c.277_278insAAGAAA:p.E92_R93insKE . . . . . . 0.4974 0.4974 0.4983 0.4938 0.4982 0.4969 0.4989 0.4998 . . . . . rs199866927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4075 0.3412 0.3731 0.4508 0.2980 0.4651 0.4263 0.3918 0.4194 0.4017 0.4940 0.4719 0.084 0.4988 0.5 0.3090 0.4397 het 1790.86 100 1 1647893 . C CTTTCTT 1790.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.605;DP=100;FS=10.963;HRun=0;HaplotypeScore=620.7623;MQ=52.65;MQ0=0;MQRankSum=-6.299;QD=17.56;ReadPosRankSum=-0.015;set=variant2 GT:AD:DP:GQ:PL 0/1:81,16:100:99:1830,0,3732 1 1686040 1686040 G T exonic NADK 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 0.25 0.05 0.27 0.28 0.41 0.31 0.3564 0.0973 0.2580 0.2600 0.3780 0.4307 0.3789 0.3291 0.32 0.11 0.42 0.18 0.37 rs4751 COSM424509;COSM3750562;COSM1472949 1(large_intestine) . . . . . . . . . . . 0.109 0.302 T 0.562 0.365 P 0.229 0.365 B 0.000 0.629 D 0.967 0.282 P 1.075 0.273 L 0.93 0.441 T -1.04 0.273 N 0.029 0.101 -0.956 0.399 T 0.000 0.000 T . . . -0.260 0.071 0.815 0.683 0.084 0.381 0.257 N c -1.473 -1.536 0.990 0.318 0.672 0.522 0 -1.93 0.071 -1.130 0.033 -1.814 0.006 0.005 0.169 0.001 0.043 13.146 0.587 NAD kinase/diacylglycerol kinase-like domain ENSG00000231050.1|ENSG00000008130.11|ENSG00000008130.11|ENSG00000178821.8|ENSG00000008130.11|ENSG00000169885.5|ENSG00000008130.11|ENSG00000178821.8|ENSG00000178821.8|ENSG00000231050.1|ENSG00000178821.8|ENSG00000231050.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Cerebellar_Hemisphere|Esophagus_Mucosa|Heart_Atrial_Appendage|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.3551 0.0907 0.2534 0.4895 0.2654 0.3786 0.4252 0.3985 0.3270 0.3038 0.1020 0.2638 0.4967 0.2516 0.3773 0.4042 0.3671 hom 5146.84 153 1 1686040 . G T 5146.84 Mask AC=2;AF=1.00;AN=2;DP=153;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.2100;MQ=59.88;MQ0=0;QD=33.64;VQSLOD=8.4095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5146,397,0 1 1916890 1916890 C T exonic CFAP74 synonymous SNV CFAP74:NM_001304360:exon6:c.G435A:p.L145L 0.44 0.66 0.28 0.43 0.31 0.39 0.3733 0.6239 0.2815 0.4395 0.3922 0.3375 0.3460 0.3930 0.41 0.58 0.33 0.51 0.28 rs3795280 COSM5427269 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3647 0.6246 0.2840 0.3387 0.4326 0.3712 0.3367 0.3429 0.3944 0.4261 0.6137 0.2715 0.3467 0.4386 0.3820 0.3390 0.3809 het 2498.65 202 1 1916890 . C T 2498.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.409;DP=202;Dels=0.00;FS=2.513;HRun=0;HaplotypeScore=2.8715;MQ=59.77;MQ0=0;MQRankSum=-1.208;QD=12.37;ReadPosRankSum=-1.205;VQSLOD=5.3726;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:103,98:202:99:2529,0,2768 1 1957037 1957037 T C exonic GABRD synonymous SNV GABRD:NM_000815:exon4:c.T330C:p.G110G 0.56 0.75 0.51 0.35 0.68 0.44 0.5934 0.7290 0.4569 0.3148 0.6309 0.6578 0.6473 0.4732 0.68 0.73 0.66 0.53 0.72 rs2229110 COSM424897 2(thyroid) Benign not_specified RCV000254456.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5883 0.7308 0.4730 0.6909 0.3125 0.6383 0.6570 0.6246 0.4739 0.6471 0.7303 0.5012 0.6967 0.3102 0.6380 0.6455 0.6293 hom 5016.54 157 1 1957037 . T C 5016.54 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7050;MQ=59.44;MQ0=0;QD=31.95;VQSLOD=7.7508;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5016,391,0 1 2161153 2161153 G A exonic SKI synonymous SNV SKI:NM_003036:exon1:c.G948A:p.K316K . . . . . . 0.0001 0 0.0010 0 0 0.0001 0 0 0.0002 . 0.0002 . . rs368128582 . . Benign|Likely benign not_specified|Shprintzen-Goldberg_syndrome RCV000196098.2|RCV000231718.2 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C1321551:182212:83092002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0 0.0006 0 0 0 0.0001 0 0 0.0002 0 0.0012 0 0 0 0.0003 0 het 147.17 14 1 2161153 . G A 147.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.065;DP=14;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.194;QD=10.51;ReadPosRankSum=2.517;VQSLOD=9.2967;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:8,6:14:99:177,0,217 1 2340200 2340200 T C exonic PEX10 synonymous SNV PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T 0.7 0.57 0.77 0.73 0.79 0.7 0.7714 0.6008 0.7699 0.7265 0.8119 0.8116 0.7595 0.7258 0.74 0.6 0.82 0.54 0.74 rs2494598 . . other|Benign not_specified|Zellweger_syndrome RCV000117902.3|RCV000326499.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043459:214100:ORPHA912:88469006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7743 0.5896 0.7707 0.8259 0.7203 0.8077 0.8113 0.7766 0.7253 0.7385 0.5953 0.7721 0.8278 0.7006 0.8083 0.8031 0.7781 hom 1624.59 51 1 2340200 . T C 1624.59 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2778;MQ=59.55;MQ0=0;QD=31.85;VQSLOD=9.0933;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1658,138,0 1 2430617 2430617 C T exonic PLCH2 synonymous SNV PLCH2:NM_001303012:exon19:c.C2448T:p.I816I,PLCH2:NM_001303013:exon19:c.C2589T:p.I863I,PLCH2:NM_014638:exon19:c.C2529T:p.I843I 0.37 0.17 0.45 0.48 0.48 0.33 0.4352 0.2208 0.4693 0.5221 0.4063 0.4689 0.4543 0.3643 0.39 0.22 0.47 0.37 . rs2296442 COSM3751044;COSM3751045 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4329 0.2084 0.4550 0.4282 0.5191 0.4022 0.4706 0.4552 0.3548 0.3832 0.2211 0.4678 0.4172 0.5186 0.4012 0.4514 0.4131 het 254.75 33 1 2430617 . C T 254.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.125;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.430;QD=7.72;ReadPosRankSum=0.692;VQSLOD=10.4700;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,12:33:99:285,0,540 1 2444414 2444414 G A exonic PANK4 nonsynonymous SNV PANK4:NM_018216:exon13:c.C1664T:p.A555V 0.23 0.014 0.3 0.3 0.39 0.21 0.3141 0.0663 0.2257 0.3693 0.3522 0.3738 0.3457 0.2456 0.27 0.072 0.37 0.21 0.43 rs7535528 COSM3746888 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.086 0.496 T 0.769 0.419 P 0.119 0.306 B 0.364 0.136 N 1 0.090 P 2.18 0.615 M 3.19 0.074 T -2.49 0.561 N 0.034 0.420 -0.867 0.508 T 0.000 0.000 T . . . 3.130 0.436 22.6 0.996 0.735 0.655 0.325 D c -0.119 -0.125 1.000 0.747 0.672 0.522 0 5.59 0.846 3.998 0.565 1.045 0.669 0.610 0.276 0.006 0.095 18.568 0.910 Domain of unknown function DUF89 ENSG00000142606.11|ENSG00000228037.1|ENSG00000142606.11 Lung|Spleen|Whole_Blood 0.3154 0.0612 0.2312 0.3740 0.3638 0.3504 0.3754 0.3433 0.2406 0.2736 0.0717 0.2614 0.3709 0.3758 0.3532 0.3580 0.3078 het 2224.67 160 1 2444414 . G A 2224.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.842;DP=160;Dels=0.00;FS=4.777;HRun=0;HaplotypeScore=5.4332;MQ=59.30;MQ0=0;MQRankSum=0.874;QD=13.90;ReadPosRankSum=-1.720;VQSLOD=4.5545;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,83:160:99:2255,0,1884 1 2452569 2452569 T C exonic PANK4 synonymous SNV PANK4:NM_018216:exon3:c.A417G:p.K139K 0.85 0.91 0.81 0.96 0.73 0.79 0.7806 0.9020 0.8555 0.9625 0.6845 0.7384 0.7655 0.7655 0.8 0.9 0.74 0.87 0.71 rs2985862 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7786 0.9047 0.8472 0.7261 0.9652 0.6853 0.7414 0.7681 0.7579 0.7894 0.8982 0.8294 0.7267 0.9636 0.6954 0.7324 0.7229 het 1909.27 145 1 2452569 . T C 1909.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.430;DP=145;Dels=0.00;FS=2.179;HRun=1;HaplotypeScore=0.0000;MQ=59.79;MQ0=1;MQRankSum=1.065;QD=13.17;ReadPosRankSum=-0.094;VQSLOD=6.5538;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,70:145:99:1939,0,1978 1 2488153 2488153 A G exonic TNFRSF14 nonsynonymous SNV TNFRSF14:NM_001297605:exon1:c.A50G:p.K17R,TNFRSF14:NM_003820:exon1:c.A50G:p.K17R 0.61 0.78 0.53 0.54 0.47 0.67 0.5443 0.7367 0.5341 0.5096 0.5385 0.4939 0.5566 0.6529 0.56 0.73 0.47 0.53 0.38 rs4870 COSM4143682;COSM4999217 1(pancreas);1(thyroid) not provided not_specified RCV000122164.1 MedGen CN169374 . . . . . . 0.471 0.176 T 0.61 0.377 P 0.145 0.330 B . . . 1 0.090 P 1.175 0.300 L -2.37 0.885 D -0.59 0.176 N 0.032 0.214 -0.931 0.441 T 0.000 0.000 T . . . -0.182 0.077 1.198 0.932 0.222 0.014 0.046 N c -0.956 -1.130 1.000 0.747 0.442 0.072 0 -1.09 0.093 -1.268 0.029 -0.844 0.029 0.000 0.063 0.000 0.016 7.533 0.267 . ENSG00000157873.13|ENSG00000272449.1|ENSG00000157873.13|ENSG00000228037.1|ENSG00000238164.2|ENSG00000142606.11|ENSG00000157873.13|ENSG00000157870.10|ENSG00000272449.1|ENSG00000142606.11|ENSG00000157873.13|ENSG00000238164.2|ENSG00000142606.11|ENSG00000142606.11 Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Pancreas|Pancreas|Thyroid|Whole_Blood 0.5129 0.7273 0.5109 0.4435 0.4874 0.4882 0.4662 0.4990 0.6332 0.5446 0.7156 0.5143 0.4467 0.4609 0.4842 0.4735 0.5154 het 146.56 16 1 2488153 . A G 146.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.271;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.573;QD=9.16;ReadPosRankSum=-2.115;VQSLOD=10.0782;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,6:16:99:177,0,265 1 2526746 2526746 A G exonic MMEL1 nonsynonymous SNV MMEL1:NM_033467:exon16:c.T1553C:p.M518T 0.54 0.73 0.49 0.54 0.33 0.54 0.4142 0.6816 0.4535 0.4994 0.3765 0.3345 0.4195 0.5090 0.45 0.68 0.34 0.52 0.27 rs3748816 COSM3746907 1(liver) . . . . . . . . . . . 0.715 0.040 T 0.0 0.026 B 0.0 0.013 B 0.090 0.024 N 1 0.090 P -1.28 0.007 N -1.51 0.814 D 1.61 0.007 N 0.038 0.018 -1.028 0.211 T 0.000 0.000 T . . . -2.189 0.006 0.001 0.239 0.010 0.016 0.052 N c -2.283 -2.243 0.998 0.361 0.516 0.203 0 -5.48 0.024 -2.273 0.012 -2.928 0.002 0.000 0.063 0.000 0.016 2.161 0.036 Peptidase M13\x2c N-terminal domain ENSG00000142606.11|ENSG00000272449.1|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11|ENSG00000157873.13|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11|ENSG00000142606.11 Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Liver|Lung|Pancreas|Small_Intestine_Terminal_Ileum|Spleen|Thyroid|Whole_Blood 0.4107 0.6870 0.4542 0.3010 0.5034 0.3776 0.3365 0.3814 0.5073 0.4521 0.6774 0.4522 0.2980 0.4857 0.3833 0.3408 0.3820 het 779.20 62 1 2526746 . A G 779.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.317;DP=62;Dels=0.00;FS=1.044;HRun=0;HaplotypeScore=1.8934;MQ=59.63;MQ0=0;MQRankSum=0.063;QD=12.57;ReadPosRankSum=-0.768;VQSLOD=6.7565;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:30,32:62:99:809,0,840 1 2535613 2535613 C A exonic MMEL1 synonymous SNV MMEL1:NM_033467:exon10:c.G924T:p.V308V 0.5 0.61 0.45 0.53 0.31 0.53 0.3908 0.5739 0.4242 0.4897 0.3592 0.3183 0.4080 0.4999 0.4 0.57 0.32 0.45 0.16 rs4648562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3863 0.5702 0.4247 0.2974 0.4928 0.3574 0.3168 0.3643 0.4950 0.4040 0.5579 0.4231 0.2914 0.4794 0.3587 0.3206 0.3595 het 749.71 64 1 2535613 . C A 749.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.083;DP=64;Dels=0.00;FS=1.422;HRun=1;HaplotypeScore=4.3874;MQ=59.64;MQ0=0;MQRankSum=1.715;QD=11.71;ReadPosRankSum=-1.083;VQSLOD=4.5776;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,30:64:99:780,0,972 1 2541269 2541269 A G exonic MMEL1 synonymous SNV MMEL1:NM_033467:exon5:c.T294C:p.A98A 0.53 0.7 0.49 0.54 0.33 0.53 0.4114 0.6580 0.4510 0.4963 0.3750 0.3330 0.4188 0.5257 0.44 0.66 0.33 0.51 0.23 rs10797440 COSM3997438;COSM3997439 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4075 0.6633 0.4512 0.3048 0.5033 0.3781 0.3330 0.3824 0.5003 0.4435 0.6524 0.4424 0.3 0.4919 0.3827 0.3378 0.3814 het 1438.58 128 1 2541269 . A G 1438.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.886;DP=128;Dels=0.00;FS=0.718;HRun=1;HaplotypeScore=4.5071;MQ=59.64;MQ0=0;MQRankSum=0.983;QD=11.24;ReadPosRankSum=-0.386;VQSLOD=5.7703;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,56:128:99:1469,0,1866 1 2938265 2938265 C T exonic ACTRT2 synonymous SNV ACTRT2:NM_080431:exon1:c.C15T:p.H5H 0.2 0.13 0.24 0.4 0.16 0.11 0.1941 0.1510 0.3204 0.4222 0.1367 0.1753 0.1787 0.1055 0.17 0.14 0.18 0.24 0.17 rs4576609 COSM3997474 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1951 0.1458 0.3036 0.1045 0.4289 0.1444 0.1787 0.1762 0.0981 0.1695 0.1390 0.2854 0.0993 0.4493 0.1411 0.1597 0.1507 het 995.23 79 1 2938265 . C T 995.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.844;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4661;MQ=59.53;MQ0=0;MQRankSum=0.103;QD=12.60;ReadPosRankSum=-0.958;VQSLOD=5.7858;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,42:79:99:1025,0,925 1 2938408 2938410 AGA - exonic ACTRT2 nonframeshift deletion ACTRT2:NM_080431:exon1:c.158_160del:p.K55del 0.11 0.011 0.22 0.19 0.16 0.046 0.1552 0.0360 0.3108 0.2243 0.1315 0.1676 0.1456 0.0454 0.12 0.036 0.17 . . rs4013154 COSM5713020 2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1624 0.0337 0.2952 0.0979 0.2267 0.1404 0.1727 0.1543 0.0460 0.1235 0.0351 0.2745 0.0933 0.2273 0.1357 0.1527 0.1293 het 1707.72 93 1 2938407 . CAGA C 1707.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.003;DP=93;FS=14.114;HRun=0;HaplotypeScore=363.2259;MQ=56.20;MQ0=0;MQRankSum=-1.278;QD=18.36;ReadPosRankSum=0.166;set=variant2 GT:AD:DP:GQ:PL 0/1:51,42:93:99:1747,0,2678 1 2938697 2938697 T G exonic ACTRT2 synonymous SNV ACTRT2:NM_080431:exon1:c.T447G:p.S149S 0.21 0.17 0.24 0.4 0.16 0.098 0.1923 0.1778 0.3208 0.4170 0.1364 0.1740 0.1786 0.0906 0.18 0.17 0.18 0.25 0.18 rs3795262 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1957 0.1731 0.3050 0.1038 0.4247 0.1442 0.1788 0.1764 0.0911 0.1763 0.1643 0.2883 0.0993 0.4438 0.1411 0.1596 0.1507 het 1475.26 142 1 2938697 . T G 1475.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.120;DP=142;Dels=0.00;FS=4.136;HRun=1;HaplotypeScore=6.7389;MQ=59.02;MQ0=0;MQRankSum=0.251;QD=10.39;ReadPosRankSum=-3.017;VQSLOD=3.0503;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:80,60:142:99:1505,0,2410 1 3301721 3301721 C T exonic PRDM16 synonymous SNV PRDM16:NM_022114:exon4:c.C444T:p.S148S,PRDM16:NM_199454:exon4:c.C444T:p.S148S 0.34 0.039 0.33 0.62 0.27 0.54 0.3295 0.0802 0.4145 0.5966 0.3095 0.2706 0.3158 0.5226 0.2 0.082 0.27 0.26 0.22 rs2282198 COSM3746938 1(liver);1(thyroid);1(biliary_tract) Benign not_specified RCV000213616.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3332 0.0761 0.4029 0.2102 0.5989 0.3076 0.2715 0.3016 0.5230 0.2446 0.0786 0.3816 0.2649 0.6075 0.2991 0.2782 0.2982 het 2361.94 198 1 3301721 . C T 2361.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.048;DP=198;Dels=0.00;FS=0.546;HRun=0;HaplotypeScore=4.7806;MQ=59.34;MQ0=0;MQRankSum=0.238;QD=11.93;ReadPosRankSum=-0.281;VQSLOD=5.5801;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,86:198:99:2392,0,2971 1 3328358 3328358 T C exonic PRDM16 nonsynonymous SNV PRDM16:NM_022114:exon9:c.T1597C:p.S533P,PRDM16:NM_199454:exon9:c.T1597C:p.S533P 0.95 0.99 0.9 1. 0.84 0.96 0.8897 0.9721 0.9243 0.9998 0.9099 0.8404 0.8873 0.9508 0.88 0.97 0.84 0.91 0.76 rs870124 COSM3751146 1(large_intestine) Benign not_specified RCV000217271.2 MedGen CN169374 . . . . . . 0.651 0.061 T 0.0 0.026 B 0.0 0.013 B 0.005 0.328 N 0.909 0.289 P -1.7 0.004 N 3.38 0.060 T 1.31 0.010 N 0.026 0.009 -0.955 0.401 T 0.000 0.000 T . . . -0.543 0.053 0.172 0.663 0.078 0.059 0.117 N c -0.721 -0.498 0.994 0.336 0.487 0.133 0 5.33 0.756 2.031 0.405 0.058 0.164 0.426 0.261 0.826 0.345 14.274 0.656 . . . 0.8901 0.9726 0.9239 0.8534 0.9997 0.9133 0.8350 0.8740 0.9500 0.9008 0.9696 0.9332 0.86 0.9994 0.9196 0.8459 0.8794 hom 6598.71 212 1 3328358 . T C 6598.71 Mask AC=2;AF=1.00;AN=2;DP=212;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4079;MQ=59.64;MQ0=0;QD=31.13;VQSLOD=7.4685;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,212:212:99:6598,512,0 1 3389727 3389727 C T exonic ARHGEF16 nonsynonymous SNV ARHGEF16:NM_014448:exon7:c.C1108T:p.H370Y 0.68 0.39 0.76 0.67 0.86 0.86 0.8050 0.4548 0.6769 0.6607 0.9028 0.8731 0.8497 0.8753 0.74 0.47 0.87 0.61 0.82 rs2185639 COSM4143832;COSM4143831 1(thyroid) . . . . . . . . . . . 0.476 0.228 T 0.004 0.147 B 0.012 0.220 B 0.000 0.629 D 0.000 0.588 P 1.935 0.520 L 0.07 0.617 T -2.16 0.547 N 0.255 0.311 -0.940 0.427 T 0.000 0.000 T . . . 1.043 0.194 10.90 0.914 0.201 0.840 0.428 D c -0.426 -0.327 1.000 0.500 0.696 0.567 0 3.43 0.382 1.729 0.375 0.925 0.434 0.681 0.282 0.649 0.298 7.811 0.282 Dbl homology (DH) domain ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10|ENSG00000130762.10 Brain_Cerebellum|Esophagus_Mucosa|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis 0.8060 0.4437 0.6844 0.8547 0.6503 0.9015 0.8727 0.8344 0.875 0.7351 0.4470 0.7261 0.9073 0.6361 0.9023 0.8638 0.8466 hom 3696.05 126 1 3389727 . C T 3696.05 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.9388;MQ=60.00;MQ0=0;QD=29.33;VQSLOD=5.2251;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,124:126:99:3695,310,0 1 3394456 3394456 T C exonic ARHGEF16 synonymous SNV ARHGEF16:NM_014448:exon11:c.T1491C:p.S497S 0.97 0.9 0.99 1. 1. 1. 0.9903 0.9036 0.9943 1 1 0.9986 0.9944 0.9986 0.97 0.91 1. 0.86 0.98 rs4638054 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9922 0.9025 0.9946 0.9959 1 1.0000 0.9987 0.9952 0.9987 0.9730 0.9078 0.9964 1 1 1 0.9987 0.9918 hom 2735.21 93 1 3394456 . T C 2735.21 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.62;MQ0=0;QD=29.41;VQSLOD=8.6753;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2768,220,0 1 3395039 3395039 G A exonic ARHGEF16 synonymous SNV ARHGEF16:NM_014448:exon12:c.G1677A:p.V559V 0.69 0.39 0.76 0.68 0.86 0.86 0.8037 0.4608 0.6739 0.6602 0.9019 0.8707 0.8517 0.8743 0.73 0.47 0.87 0.6 0.81 rs10797395 COSM4143834;COSM4143833 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8043 0.4465 0.6827 0.8519 0.6490 0.9000 0.8703 0.8325 0.8735 0.7350 0.4494 0.7231 0.9040 0.6321 0.9018 0.8630 0.8432 hom 6409.18 206 1 3395039 . G A 6409.18 Mask AC=2;AF=1.00;AN=2;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4783;MQ=59.53;MQ0=0;QD=31.11;VQSLOD=8.9549;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,206:206:99:6408,497,0 1 3428160 3428160 T G exonic MEGF6 synonymous SNV MEGF6:NM_001409:exon9:c.A1068C:p.T356T 0.5 0.75 0.4 0.64 0.29 0.3 0.3713 0.6994 0.4680 0.6653 0.2605 0.2988 0.3200 0.2928 0.42 0.67 0.3 0.62 0.24 rs2820999 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3699 0.7082 0.4598 0.2643 0.6705 0.2543 0.3048 0.3357 0.2940 0.4286 0.7051 0.4318 0.2815 0.7076 0.2380 0.2925 0.3149 het 896.33 66 1 3428160 . T G 896.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.176;DP=66;Dels=0.00;FS=2.605;HRun=1;HaplotypeScore=2.6159;MQ=59.88;MQ0=0;MQRankSum=-0.578;QD=13.58;ReadPosRankSum=0.989;VQSLOD=5.8717;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,31:66:99:926,0,935 1 3428608 3428608 G A exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon8:c.C938T:p.A313V 0.26 0.34 0.19 0.4 0.15 0.14 0.1840 0.3202 0.1761 0.4212 0.1373 0.1513 0.1705 0.1355 0.2 0.3 0.15 0.37 0.2 rs11585362 COSM3746942 1(haematopoietic_and_lymphoid_tissue);2(liver) . . . . . . . . . . . 0.035 0.437 D 0.95 0.519 P 0.36 0.414 B 0.000 0.513 D 1 0.090 P 1.955 0.530 M -3.01 0.922 D -2.04 0.468 N 0.074 0.338 -1.110 0.031 T 0.000 0.000 T . . . 2.464 0.357 19.23 0.994 0.639 0.901 0.508 D c -0.310 -0.365 0.093 0.162 0.732 0.924 0 3.71 0.416 5.734 0.680 0.030 0.149 0.979 0.349 0.018 0.130 8.415 0.316 EGF-like calcium-binding domain|EGF-like domain|EGF-like\x2c conserved site|Growth factor receptor cysteine-rich domain;EGF-like domain|Growth factor receptor cysteine-rich domain . . 0.1813 0.3197 0.1750 0.1687 0.4128 0.1463 0.1487 0.1763 0.1378 0.2060 0.3198 0.1790 0.1987 0.4326 0.1356 0.1367 0.1544 het 1665.84 109 1 3428608 . G A 1665.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.690;DP=109;Dels=0.00;FS=3.943;HRun=0;HaplotypeScore=2.5922;MQ=59.10;MQ0=0;MQRankSum=2.449;QD=15.28;ReadPosRankSum=-0.948;VQSLOD=5.0504;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,65:109:99:1696,0,1053 1 3496479 3496479 T C exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon4:c.A391G:p.S131G 0.85 0.87 0.89 0.71 0.92 0.89 0.8831 0.8634 0.8712 0.6875 0.9095 0.9112 0.9132 0.8815 0.9 0.88 0.92 0.85 0.59 rs2794340 COSM1162425 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.014 0.287 N 1 0.090 P 0.655 0.162 N -2.92 0.918 D 1.7 0.006 N 0.023 0.006 -0.951 0.409 T 0.000 0.000 T . . . -0.908 0.036 0.025 0.153 0.004 0.001 0.007 N c -1.158 -1.117 0.021 0.134 0.696 0.567 0 4.35 0.513 0.204 0.170 -0.052 0.122 0.000 0.063 0.011 0.114 8.494 0.321 EGF-like domain . . 0.8849 0.8558 0.8630 0.8930 0.6540 0.9230 0.9103 0.8924 0.8757 0.8917 0.8702 0.8699 0.9437 0.6910 0.9324 0.9160 0.9012 hom 473.69 20 1 3496479 . T C 473.69 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.520;DP=20;Dels=0.00;FS=5.006;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;MQRankSum=1.561;QD=23.68;ReadPosRankSum=1.561;VQSLOD=3.2560;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,19:20:14.70:506,15,0 1 3511934 3511934 A G exonic MEGF6 nonsynonymous SNV MEGF6:NM_001409:exon3:c.T344C:p.M115T 0.23 0.24 0.19 0.33 0.15 0.21 0.1900 0.2205 0.2274 0.3726 0.1567 0.1532 0.1828 0.2087 0.16 0.19 0.14 0.13 0.16 rs7513275 . . . . . . . . . . . . . 0.532 0.070 T 0.0 0.026 B 0.0 0.013 B 0.702 0.101 N 1.000 0.192 P -0.97 0.012 N -1.75 0.835 D 0.44 0.033 N 0.051 0.032 -1.101 0.040 T 0.000 0.000 T . . . -1.165 0.026 0.008 0.244 0.011 0.145 0.183 N c -1.136 -1.022 0.054 0.150 0.646 0.450 0 -0.333 0.120 0.757 0.259 -0.780 0.033 0.468 0.265 0.021 0.135 2.150 0.035 EMI domain . . 0.1875 0.2139 0.2202 0.1871 0.3711 0.1525 0.1475 0.1743 0.2061 0.1735 0.2134 0.2279 0.1987 0.3897 0.1425 0.1317 0.1582 het 587.91 62 1 3511934 . A G 587.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.029;DP=62;Dels=0.00;FS=4.349;HRun=0;HaplotypeScore=2.7658;MQ=59.02;MQ0=0;MQRankSum=1.366;QD=9.48;ReadPosRankSum=0.955;VQSLOD=5.2348;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,27:62:99:618,0,768 1 3548136 3548136 T C exonic WRAP73 synonymous SNV WRAP73:NM_017818:exon11:c.A1134G:p.A378A 0.91 0.89 0.85 0.99 0.84 0.95 0.8727 0.8771 0.8693 0.9971 0.8891 0.8402 0.8681 0.9303 0.85 0.88 0.84 0.77 0.79 rs2760321 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8701 0.8776 0.8709 0.8074 0.9966 0.8802 0.8382 0.8484 0.9268 0.8677 0.8737 0.8556 0.7715 0.9944 0.8812 0.8500 0.8671 het 698.35 66 1 3548136 . T C 698.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.177;DP=66;Dels=0.00;FS=7.734;HRun=0;HaplotypeScore=3.5362;MQ=58.89;MQ0=0;MQRankSum=1.298;QD=10.58;ReadPosRankSum=-1.231;VQSLOD=4.5648;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,28:66:99:728,0,1070 1 3638674 3638674 C T exonic TP73 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 0.74 0.77 0.72 0.53 0.91 0.73 0.8101 0.7695 0.6204 0.5180 0.8475 0.8972 0.8303 0.7576 0.85 0.77 0.89 0.79 0.91 rs1801174 COSM3997495;COSM3997496 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8051 0.7681 0.6279 0.9287 0.5133 0.8573 0.8973 0.8483 0.7614 0.8295 0.7682 0.6408 0.9338 0.5260 0.8641 0.8957 0.8684 het 2033.73 144 1 3638674 . C T 2033.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.903;DP=144;Dels=0.00;FS=4.538;HRun=0;HaplotypeScore=9.5367;MQ=58.28;MQ0=0;MQRankSum=1.418;QD=14.12;ReadPosRankSum=-0.559;VQSLOD=3.6388;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,74:144:99:2064,0,1582 1 3745924 3745924 G A exonic CEP104 nonsynonymous SNV CEP104:NM_014704:exon15:c.C2057T:p.A686V 0.21 0.08 0.13 0.52 0.056 0.28 0.1428 0.0947 0.2680 0.5181 0.0941 0.0510 0.1272 0.2774 0.06 0.088 0.046 0.17 0.016 rs2275831 . . . . . . . . . . . . . 0.183 0.217 T 0.061 0.217 B 0.019 0.176 B 0.019 0.274 N 0.858 0.284 P 1.81 0.478 L 1.05 0.400 T -1.55 0.375 N 0.082 0.075 -0.916 0.461 T 0.000 0.000 T . . . 2.627 0.377 20.4 0.922 0.210 0.903 0.511 D c -0.282 -0.147 0.033 0.141 0.706 0.609 0 4.39 0.520 2.135 0.415 0.120 0.210 1.000 0.715 0.625 0.293 7.149 0.246 . ENSG00000235169.3 Cells_Transformed_fibroblasts 0.1385 0.0890 0.2351 0.0429 0.5047 0.0832 0.0496 0.1012 0.2678 0.1003 0.0909 0.1945 0.0530 0.5266 0.0894 0.0583 0.0957 het 590.05 61 1 3745924 . G A 590.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.974;DP=61;Dels=0.00;FS=2.321;HRun=0;HaplotypeScore=4.6547;MQ=58.46;MQ0=0;MQRankSum=1.787;QD=9.67;ReadPosRankSum=0.007;VQSLOD=5.1125;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:620,0,866 1 3753136 3753136 A T exonic CEP104 nonsynonymous SNV CEP104:NM_014704:exon10:c.T1240A:p.L414I 0.3 0.06 0.49 0.34 0.43 0.33 0.3698 0.1096 0.4091 0.3225 0.3356 0.4291 0.3491 0.3058 0.33 0.12 0.43 0.26 0.47 rs2275824 COSM3746952 2(haematopoietic_and_lymphoid_tissue);1(pancreas);1(liver) . . . . . . . . . . . 0.166 0.323 T 0.021 0.174 B 0.018 0.173 B 0.863 0.071 N 1 0.090 P 0 0.065 N 2.35 0.162 T -0.02 0.116 N 0.03 0.245 -0.898 0.482 T 0.000 0.000 T . . . 1.122 0.202 11.33 0.919 0.206 0.040 0.094 N c -1.193 -1.215 0.039 0.144 0.732 0.924 0 -3.25 0.047 -0.286 0.084 -0.509 0.051 0.000 0.063 0.004 0.083 2.575 0.045 . ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000130764.5|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000116198.8|ENSG00000235169.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Thyroid|Whole_Blood|Whole_Blood 0.3750 0.1026 0.4230 0.3396 0.3250 0.3351 0.4350 0.3838 0.3068 0.3190 0.1036 0.4296 0.3311 0.3194 0.3194 0.4328 0.4019 het 2012.37 178 1 3753136 . A T 2012.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.250;DP=178;Dels=0.00;FS=2.004;HRun=0;HaplotypeScore=1.9722;MQ=58.97;MQ0=0;MQRankSum=-0.001;QD=11.31;ReadPosRankSum=-0.254;VQSLOD=5.9230;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,83:178:99:2042,0,2380 1 3755675 3755675 T C exonic CEP104 synonymous SNV CEP104:NM_014704:exon8:c.A744G:p.E248E 0.79 0.92 0.87 0.48 0.94 0.72 0.8584 0.9075 0.7321 0.4837 0.9061 0.9496 0.8733 0.7233 0.94 0.91 0.95 0.83 0.98 rs1891941 COSM5619177 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8565 0.9092 0.7574 0.9561 0.4882 0.9154 0.9499 0.8938 0.7260 0.8998 0.9088 0.8055 0.9470 0.4764 0.9106 0.9416 0.9043 het 2278.97 163 1 3755675 . T C 2278.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.938;DP=163;Dels=0.00;FS=2.268;HRun=0;HaplotypeScore=3.3471;MQ=58.84;MQ0=0;MQRankSum=1.213;QD=13.98;ReadPosRankSum=-0.090;VQSLOD=6.1581;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,79:163:99:2309,0,2185 1 3761479 3761479 C T exonic CEP104 synonymous SNV CEP104:NM_014704:exon6:c.G558A:p.T186T 0.35 0.23 0.49 0.34 0.43 0.33 0.3832 0.2530 0.4161 0.3233 0.3356 0.4297 0.3557 0.3060 0.38 0.26 0.43 0.38 0.46 rs2275822 COSM3997506;COSM3997507 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3857 0.2506 0.4301 0.3396 0.3255 0.3352 0.4358 0.3919 0.3070 0.3630 0.2532 0.4415 0.3311 0.3226 0.3196 0.4341 0.4127 het 1081.43 101 1 3761479 . C T 1081.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.358;DP=101;Dels=0.00;FS=13.589;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;MQRankSum=0.430;QD=10.71;ReadPosRankSum=-0.194;VQSLOD=4.4158;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:56,45:101:99:1111,0,1420 1 3786189 3786189 G A exonic DFFB synonymous SNV DFFB:NM_001282669:exon5:c.G603A:p.T201T,DFFB:NM_001320132:exon5:c.G384A:p.T128T,DFFB:NM_001320136:exon5:c.G339A:p.T113T,DFFB:NM_004402:exon5:c.G531A:p.T177T 0.21 0.14 0.23 0.13 0.35 0.26 0.2939 0.1677 0.1520 0.1384 0.3086 0.3653 0.2860 0.2606 0.31 0.18 0.37 0.22 0.3 rs1141070 COSM4143881 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2892 0.1639 0.1620 0.3153 0.1400 0.2981 0.3709 0.2979 0.2614 0.2856 0.1759 0.1933 0.2748 0.1562 0.3032 0.3622 0.3289 het 1257.72 92 1 3786189 . G A 1257.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.015;DP=92;Dels=0.00;FS=0.798;HRun=0;HaplotypeScore=3.7097;MQ=59.59;MQ0=0;MQRankSum=0.698;QD=13.67;ReadPosRankSum=-0.149;VQSLOD=6.0042;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,44:92:99:1288,0,1235 1 3800242 3800242 A G exonic DFFB synonymous SNV DFFB:NM_001282669:exon7:c.A1026G:p.P342P,DFFB:NM_001320132:exon7:c.A807G:p.P269P,DFFB:NM_001320136:exon7:c.A762G:p.P254P,DFFB:NM_004402:exon7:c.A954G:p.P318P 0.36 0.31 0.33 0.35 0.41 0.39 0.3971 0.3391 0.2580 0.3335 0.3716 0.4409 0.4108 0.3969 0.41 0.34 0.45 0.4 0.43 rs3205087 COSM4143882 1(kidney);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3871 0.3373 0.2544 0.3233 0.3233 0.3647 0.4505 0.3953 0.3977 0.3905 0.3411 0.2959 0.2667 0.3240 0.3698 0.4365 0.4255 het 2262.07 232 1 3800242 . A G 2262.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.416;DP=232;DS;Dels=0.00;FS=1.046;HRun=0;HaplotypeScore=11.5315;MQ=58.73;MQ0=0;MQRankSum=2.244;QD=9.75;ReadPosRankSum=1.413;VQSLOD=3.0018;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:136,96:232:99:2292,0,3572 1 3807593 3807593 G C exonic C1orf174 nonsynonymous SNV C1orf174:NM_207356:exon3:c.C158G:p.T53R 1. 1. 1. 1. 0.99 1. 0.9941 0.9988 0.9980 0.9999 0.9941 0.9912 0.9978 0.9968 0.99 1. 0.99 1. 0.99 rs4274008 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1 0.090 P -2.08 0.002 N 3.42 0.055 T 4.18 0.000 N 0.071 0.059 -1.001 0.297 T 0.000 0.000 T . . . -0.465 0.058 0.268 0.101 0.001 0.009 0.034 N c -1.378 -1.187 1.000 0.517 0.707 0.730 0 4.36 0.515 0.120 0.154 0.067 0.174 0.440 0.263 0.479 0.267 5.550 0.163 . . . 0.9944 0.9990 0.9973 0.9986 0.9998 0.9951 0.9905 0.9960 0.9976 0.9938 0.9985 0.9976 0.9967 1 0.9937 0.9906 0.9868 hom 6394.95 205 1 3807593 . G C 6394.95 Mask AC=2;AF=1.00;AN=2;DP=205;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.6109;MQ=59.02;MQ0=0;QD=31.19;VQSLOD=6.9033;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,205:205:99:6394,488,0 1 4772717 4772717 G A exonic AJAP1 nonsynonymous SNV AJAP1:NM_001042478:exon2:c.G787A:p.G263R,AJAP1:NM_018836:exon2:c.G787A:p.G263R 0.36 0.17 0.38 0.27 0.64 0.41 0.5284 0.2346 0.2865 0.2568 0.5495 0.6596 0.5527 0.4748 0.52 0.25 0.67 0.46 0.68 rs242056 . . . . . . . . . . . . . 0.261 0.165 T 0.999 0.764 D 0.892 0.615 P 0.004 0.346 N 0.829 0.288 P 1.67 0.430 L 0.9 0.453 T -3.86 0.724 D 0.13 0.149 -1.012 0.263 T 0.000 0.000 T . . . 2.786 0.396 21.3 0.987 0.444 0.832 0.420 D c 0.027 -0.050 1.000 0.441 0.677 0.550 0 4.76 0.600 1.474 0.348 0.994 0.605 0.019 0.194 0.308 0.238 13.265 0.594 AJAP1/PANP\x2c C-terminal . . 0.5238 0.2274 0.3062 0.6046 0.2586 0.5621 0.6676 0.5588 0.4636 0.4902 0.2327 0.3498 0.5861 0.2235 0.5576 0.6538 0.5780 het 2517.43 197 1 4772717 . G A 2517.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.649;DP=197;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.1268;MQ=58.31;MQ0=0;MQRankSum=0.293;QD=12.78;ReadPosRankSum=-0.865;VQSLOD=4.3708;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,100:197:99:2547,0,2435 1 5926507 5926507 T C exonic NPHP4 synonymous SNV NPHP4:NM_001291594:exon22:c.A2034G:p.E678E,NPHP4:NM_001291593:exon23:c.A2031G:p.E677E,NPHP4:NM_015102:exon26:c.A3570G:p.E1190E 0.32 0.16 0.38 0.28 0.41 0.43 0.4604 0.2681 0.4606 0.3327 0.4990 0.4929 0.4565 0.4711 0.35 0.2 0.42 0.28 . rs555164 COSM1126976 1(breast);1(prostate) Benign|Benign|Benign not_specified|Renal_dysplasia_and_retinal_aplasia|Nephronophthisis RCV000081716.5|RCV000266333.1|RCV000324301.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN117960:ORPHA3156:236531005|C0687120:204958008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3935 0.2006 0.3708 0.4706 0.2574 0.4254 0.4226 0.4067 0.4305 0.3592 0.2075 0.3771 0.5099 0.2837 0.4237 0.4333 0.4066 het 161.67 18 1 5926507 . T C 161.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.532;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.133;QD=8.98;ReadPosRankSum=1.022;VQSLOD=11.4778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,8:18:99:192,0,275 1 5937168 5937168 G A exonic NPHP4 synonymous SNV NPHP4:NM_001291594:exon16:c.C1266T:p.R422R,NPHP4:NM_001291593:exon17:c.C1263T:p.R421R,NPHP4:NM_015102:exon20:c.C2802T:p.R934R 0.45 0.29 0.46 0.73 0.42 0.42 0.4751 0.3408 0.5633 0.7722 0.4541 0.4302 0.4315 0.4962 0.35 0.29 0.38 0.46 . rs3747992 COSM426517 1(haematopoietic_and_lymphoid_tissue);1(liver) Benign|Benign|Benign not_specified|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia RCV000081712.5|RCV000288432.1|RCV000343148.1 MedGen|MedGen:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0687120:204958008|CN117960:ORPHA3156:236531005 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4289 0.2861 0.5138 0.3719 0.7590 0.3931 0.3854 0.4017 0.4190 0.3757 0.2893 0.4940 0.4007 0.7342 0.3959 0.3744 0.3898 het 324.81 22 1 5937168 . G A 324.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.670;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;MQRankSum=-1.883;QD=14.76;ReadPosRankSum=-0.604;VQSLOD=6.1520;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:9,13:22:99:355,0,247 1 6046264 6046264 G A exonic NPHP4 nonsynonymous SNV NPHP4:NM_015102:exon2:c.C86T:p.T29M 0.038 0.098 0.0086 0.001 0.027 0.029 0.0323 0.0868 0.0114 0.0002 0.0427 0.0310 0.0361 0.0326 0.043 0.078 0.025 0.022 . rs12142270 COSM3751330 1(large_intestine) Benign|Likely benign|Likely benign not_specified|Renal_dysplasia_and_retinal_aplasia|Nephronophthisis RCV000253888.1|RCV000307502.1|RCV000359933.1 MedGen|MedGen:Orphanet:SNOMED_CT|MedGen:SNOMED_CT CN169374|CN117960:ORPHA3156:236531005|C0687120:204958008 . . . . . . 0.01 0.564 D 0.992 0.629 D 0.59 0.486 P 0.104 0.197 N 1 0.090 N 1.32 0.331 L -2.25 0.873 D -0.81 0.223 N 0.161 0.315 -0.953 0.404 T 0.027 0.116 T . . . 2.265 0.333 17.93 0.997 0.811 0.056 0.114 N c -0.163 -0.296 1.000 0.462 0.651 0.465 0 3.77 0.423 0.911 0.280 1.048 0.713 0.009 0.180 0.915 0.391 9.094 0.356 . . . 0.0294 0.0894 0.0099 0.0317 0.0001 0.0443 0.0275 0.0340 0.0321 0.0446 0.0894 0.0167 0.0430 0.0006 0.0470 0.0247 0.0387 het 720.32 52 1 6046264 . G A 720.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.710;DP=52;Dels=0.00;FS=4.076;HRun=0;HaplotypeScore=0.0000;MQ=59.11;MQ0=0;MQRankSum=-0.653;QD=13.85;ReadPosRankSum=1.278;VQSLOD=5.8022;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,29:52:99:750,0,613 1 6158562 6158562 A G exonic KCNAB2 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 0.54 0.64 0.61 0.4 0.61 0.44 0.5750 0.6385 0.6817 0.4055 0.5546 0.6044 0.5343 0.4419 0.61 0.64 0.6 0.63 0.63 rs2229002 COSM3747041;COSM3747040 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5745 0.6397 0.6743 0.4136 0.4049 0.5581 0.6153 0.5765 0.4447 0.6086 0.6488 0.6355 0.3907 0.3810 0.5673 0.6239 0.5859 het 924.45 98 1 6158562 . A G 924.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.619;DP=98;Dels=0.00;FS=1.679;HRun=0;HaplotypeScore=3.5159;MQ=58.52;MQ0=0;MQRankSum=0.181;QD=9.43;ReadPosRankSum=-0.414;VQSLOD=5.8335;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,39:98:99:954,0,1441 1 6184092 6184092 A G exonic CHD5 nonsynonymous SNV CHD5:NM_015557:exon31:c.T4615C:p.S1539P 0.73 0.61 0.6 0.99 0.6 0.83 0.6570 0.6074 0.6040 0.9969 0.7162 0.5919 0.6765 0.7811 0.59 0.6 0.58 0.63 0.57 rs2843493 COSM4144117;COSM4144116 1(thyroid) . . . . . . . . . . . 0.365 0.117 T 0.0 0.026 B 0.0 0.013 B 0.024 0.262 N 1.000 0.090 P 0.345 0.112 N -2.8 0.911 D -0.06 0.079 N 0.013 0.005 -0.976 0.359 T 0.000 0.000 T . . . 2.368 0.346 18.61 0.973 0.329 0.005 0.025 N c -0.930 -0.794 0.053 0.150 0.646 0.450 0 3.35 0.373 0.362 0.199 0.062 0.168 0.161 0.236 0.946 0.421 6.147 0.194 . . . 0.6509 0.6008 0.5903 0.6946 0.9964 0.7045 0.5747 0.6241 0.7752 0.6270 0.5932 0.5754 0.7152 0.9975 0.7002 0.5893 0.6458 hom 1107.11 36 1 6184092 . A G 1107.11 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;QD=30.75;VQSLOD=9.3692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.27:1140,93,0 1 6196869 6196869 A G exonic CHD5 synonymous SNV CHD5:NM_015557:exon16:c.T2493C:p.I831I 0.52 0.34 0.47 0.8 0.39 0.63 0.4835 0.3458 0.5081 0.7965 0.5425 0.4241 0.5155 0.6030 0.39 0.34 0.41 0.43 0.38 rs2250358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4860 0.3394 0.4973 0.5004 0.7918 0.5342 0.4135 0.4629 0.6024 0.4371 0.3428 0.4772 0.5497 0.7983 0.5355 0.4214 0.4990 hom 1914.65 68 1 6196869 . A G 1914.65 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=60.00;MQ0=0;QD=28.16;VQSLOD=8.0494;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:1948,159,0 1 6204161 6204161 G A exonic CHD5 synonymous SNV CHD5:NM_015557:exon12:c.C1857T:p.Y619Y 0.083 0.015 0.21 0.034 0.12 0.096 0.1142 0.0316 0.1675 0.0197 0.1234 0.1296 0.1435 0.1109 0.092 0.033 0.12 0.076 0.066 rs17436816 COSM3751336 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1171 0.0284 0.1616 0.2171 0.0191 0.1170 0.1219 0.1442 0.1133 0.0875 0.0298 0.1663 0.2351 0.0167 0.1176 0.1126 0.1153 het 3976.52 250 1 6204161 . G A 3976.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.371;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8629;MQ=59.48;MQ0=0;MQRankSum=2.252;QD=15.91;ReadPosRankSum=-0.716;VQSLOD=5.4455;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:124,126:250:99:3340,0,3181 1 6209363 6209363 T C exonic CHD5 synonymous SNV CHD5:NM_015557:exon8:c.A1104G:p.V368V 0.52 0.72 0.21 0.65 0.31 0.56 0.4012 0.6645 0.2514 0.6691 0.4357 0.3113 0.3968 0.5383 0.41 0.65 0.29 0.58 0.34 rs12565328 COSM3751337 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3790 0.6667 0.2321 0.3503 0.6619 0.4242 0.2939 0.3314 0.5292 0.4378 0.6593 0.2458 0.3523 0.6740 0.4147 0.3060 0.3872 het 981.27 78 1 6209363 . T C 981.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.624;DP=78;Dels=0.00;FS=1.059;HRun=0;HaplotypeScore=1.8920;MQ=59.70;MQ0=0;MQRankSum=-0.225;QD=12.58;ReadPosRankSum=-0.205;VQSLOD=6.7843;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,38:78:99:1011,0,1129 1 6211183 6211183 G A exonic CHD5 synonymous SNV CHD5:NM_015557:exon7:c.C903T:p.F301F 0.51 0.69 0.21 0.65 0.3 0.53 0.3806 0.6243 0.2336 0.6627 0.4215 0.2984 0.3675 0.4989 0.39 0.61 0.28 0.56 0.34 rs9434711 COSM3751338 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3673 0.6304 0.2236 0.3499 0.6582 0.4214 0.2876 0.3215 0.4946 0.4260 0.6217 0.2375 0.3510 0.6693 0.4145 0.3033 0.3830 het 1409.44 99 1 6211183 . G A 1409.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.257;DP=99;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.5887;MQ=60.00;MQ0=0;MQRankSum=0.256;QD=14.24;ReadPosRankSum=0.370;VQSLOD=5.6038;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,51:99:99:1439,0,1236 1 6215736 6215736 C G exonic CHD5 synonymous SNV CHD5:NM_015557:exon4:c.G429C:p.L143L 0.15 0.37 0.06 0.0079 0.081 0.13 0.0956 0.3194 0.0390 0.0067 0.0607 0.0791 0.0956 0.1213 0.16 0.32 0.075 0.16 0.11 rs12074369 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0868 0.3270 0.0424 0.1000 0.0061 0.0574 0.0758 0.0778 0.1202 0.1342 0.3163 0.0561 0.0795 0.0080 0.0556 0.0697 0.0796 het 924.96 104 1 6215736 . C G 924.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.053;DP=104;Dels=0.00;FS=0.796;HRun=0;HaplotypeScore=0.9992;MQ=59.42;MQ0=0;MQRankSum=1.052;QD=8.89;ReadPosRankSum=-0.707;VQSLOD=5.6722;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:64,40:104:99:955,0,1884 1 6313938 6313938 C T exonic GPR153 nonsynonymous SNV GPR153:NM_207370:exon3:c.G626A:p.R209H 0.7 0.7 0.79 0.61 0.71 0.7 0.7075 0.7225 0.8217 0.5941 0.7000 0.7036 0.7235 0.6936 . . . 0.63 0.58 rs12735670 COSM3805738 1(breast);22(upper_aerodigestive_tract) . . . . . . . . . . . 0.394 0.107 T 0.012 0.151 B 0.011 0.145 B 0.002 0.369 N 0.411 0.324 P 0.695 0.181 N 0.97 0.425 T -0.35 0.129 N 0.146 0.172 -1.009 0.273 T 0.000 0.000 T . . . 1.052 0.195 10.95 0.937 0.230 0.512 0.286 D c -0.983 -0.894 0.889 0.258 0.660 0.495 0 2.03 0.256 -0.046 0.118 -0.902 0.026 0.653 0.280 0.000 0.016 7.468 0.263 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000158292.6|ENSG00000158292.6 Cells_Transformed_fibroblasts|Spleen 0.7068 0.7154 0.8109 0.7164 0.5942 0.7006 0.6961 0.7146 0.6882 0.7029 0.7154 0.7854 0.7053 0.5565 0.7100 0.7062 0.6871 hom 1192.73 36 1 6313938 . C T 1192.73 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.36;MQ0=0;QD=33.13;VQSLOD=9.0164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:99:1226,102,0 1 6314822 6314822 T C exonic GPR153 synonymous SNV GPR153:NM_207370:exon2:c.A144G:p.T48T 0.73 0.81 0.8 0.62 0.71 0.71 0.7092 0.7926 0.8205 0.5927 0.6900 0.6961 0.7195 0.6999 0.73 0.79 0.7 0.7 0.53 rs11590458 COSM4144138 1(haematopoietic_and_lymphoid_tissue);2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7121 0.7897 0.8151 0.7147 0.5978 0.6983 0.6942 0.7169 0.6984 0.7265 0.7927 0.7919 0.7053 0.5644 0.7106 0.7080 0.6930 hom 4410.28 140 1 6314822 . T C 4410.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.866;DP=140;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3171;MQ=59.17;MQ0=0;MQRankSum=-1.658;QD=31.50;ReadPosRankSum=-0.619;VQSLOD=8.2040;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,139:140:99:4378,347,0 1 6614535 6614535 G A exonic NOL9 nonsynonymous SNV NOL9:NM_024654:exon1:c.C28T:p.R10W 0.72 0.43 0.85 0.79 0.86 0.82 0.8446 0.5262 0.9255 0.7922 0.9116 0.8716 0.8178 0.8249 0.79 0.57 0.89 0.62 0.57 rs4908923 COSM3751365 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.925 0.643 D 0.092 0.203 N 1 0.090 P 1.04 0.263 L 1.96 0.223 T -2.44 0.534 N 0.215 0.291 -1.090 0.055 T 0.000 0.000 T . . . 5.337 0.723 25.8 0.998 0.894 0.006 0.026 N c -0.228 -0.409 1.0 0.983 0.442 0.072 0 2.15 0.265 0.060 0.141 1.048 0.713 0.002 0.151 0.005 0.090 6.737 0.225 . ENSG00000162408.10|ENSG00000162408.10|ENSG00000171680.16 Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.8459 0.4838 0.9168 0.8481 0.7716 0.9030 0.8689 0.8417 0.8161 0.7655 0.5112 0.8904 0.8510 0.7702 0.9095 0.8670 0.8193 hom 410.80 20 1 6614535 . G A 410.80 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.84;MQ0=0;QD=20.54;VQSLOD=6.1364;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:20:39.09:444,39,0 1 6635231 6635231 A G exonic TAS1R1 nonsynonymous SNV TAS1R1:NM_138697:exon3:c.A1039G:p.K347E 0.92 0.72 0.98 1. 1. 1. 0.9769 0.7550 0.9886 1 1 0.9991 0.9863 0.9989 0.92 0.76 1. 0.85 0.97 rs10864628 COSM4144162 1(thyroid) . . . . . . . . . . . 0.986 0.020 T 0.056 0.214 B 0.028 0.201 B 0.834 0.091 N 1 0.090 P -1.4 0.006 N -2.1 0.862 D -0.13 0.090 N 0.285 0.344 -0.971 0.370 T 0.000 0.000 T . . . -1.767 0.011 0.002 0.335 0.020 0.006 0.026 N c -1.379 -1.350 0.635 0.220 0.554 0.283 0 -0.461 0.115 -0.130 0.104 -0.281 0.084 0.000 0.063 0.000 0.016 6.901 0.233 Periplasmic binding protein-like I|Receptor\x2c ligand binding region . . 0.9811 0.7492 0.9877 0.9990 1 1 0.9991 0.9882 0.9990 0.9312 0.7590 0.9905 1 1 1 0.9995 0.9878 hom 1878.02 56 1 6635231 . A G 1878.02 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;QD=33.54;VQSLOD=9.6260;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1911,150,0 1 6659505 6659505 G A exonic KLHL21 synonymous SNV KLHL21:NM_001324309:exon2:c.C1029T:p.S343S,KLHL21:NM_014851:exon2:c.C1029T:p.S343S 0.35 0.27 0.31 0.38 0.32 0.48 0.3456 0.2716 0.2667 0.4095 0.2836 0.3385 0.3747 0.4686 0.31 0.27 0.34 0.41 0.31 rs2232460 COSM426608 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3364 0.2657 0.2612 0.3754 0.4032 0.2765 0.3343 0.3421 0.4504 0.3110 0.2563 0.2644 0.3609 0.4064 0.2692 0.3437 0.3119 hom 1146.02 36 1 6659505 . G A 1146.02 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.36;MQ0=0;QD=31.83;VQSLOD=9.0316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:93.28:1179,93,0 1 6693097 6693097 A G exonic THAP3 nonsynonymous SNV THAP3:NM_001195752:exon5:c.A677G:p.Q226R,THAP3:NM_001195753:exon6:c.A680G:p.Q227R 0.37 0.31 0.34 0.39 0.33 0.49 0.3911 0.3605 0.3266 0.4572 0.3063 0.3782 0.3925 0.4864 0.33 0.31 0.34 0.4 . rs3174820 COSM4417829 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.868 0.026 T 0.0 0.026 B 0.0 0.013 B 0.000 0.003 N 1 0.090 P 0 0.065 N -3.4 0.943 D 0.23 0.046 N 0.022 0.005 -0.934 0.436 T 0.000 0.000 T . . . -2.999 0.001 0.001 0.403 0.028 0.012 0.042 N c -2.020 -2.090 1.000 0.747 0.672 0.522 0 -7.5 0.012 -2.196 0.013 -0.552 0.047 0.000 0.063 0.008 0.104 1.286 0.019 . ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11|ENSG00000041988.11 Adrenal_Gland|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Testis 0.3511 0.3137 0.2783 0.3974 0.4098 0.2766 0.3463 0.3588 0.4682 0.3339 0.3126 0.2883 0.3808 0.4151 0.2738 0.3540 0.3194 het 317.03 28 1 6693097 . A G 317.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.091;DP=28;Dels=0.00;FS=7.402;HRun=3;HaplotypeScore=2.4432;MQ=57.03;MQ0=0;MQRankSum=0.534;QD=11.32;ReadPosRankSum=-1.370;VQSLOD=2.9647;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:347,0,415 1 6704635 6704635 A G exonic DNAJC11 synonymous SNV DNAJC11:NM_018198:exon10:c.T1080C:p.G360G 0.83 0.87 0.96 0.57 0.92 0.87 0.8836 0.8781 0.9655 0.5977 0.8741 0.9093 0.8612 0.8803 0.9 0.88 0.91 0.86 0.87 rs200458 COSM3747064 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8861 0.8774 0.9650 0.9187 0.5945 0.8708 0.9087 0.9055 0.8829 0.8748 0.8724 0.9499 0.8841 0.5730 0.8712 0.9033 0.9041 hom 3233.06 104 1 6704635 . A G 3233.06 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=59.60;MQ0=0;QD=31.09;VQSLOD=9.3102;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,104:104:99:3266,271,0 1 7723534 7723534 G A exonic CAMTA1 synonymous SNV CAMTA1:NM_001349608:exon8:c.G837A:p.S279S,CAMTA1:NM_001349612:exon8:c.G837A:p.S279S,CAMTA1:NM_001349609:exon9:c.G927A:p.S309S,CAMTA1:NM_001349610:exon9:c.G927A:p.S309S,CAMTA1:NM_015215:exon9:c.G927A:p.S309S 0.15 0.18 0.25 0.24 0.063 0.051 0.1189 0.1491 0.3579 0.2544 0.0634 0.0714 0.0928 0.0551 0.091 0.14 0.068 0.16 0.041 rs3737907 COSM5827993;COSM3751389 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1216 0.1556 0.3403 0.0318 0.2595 0.0665 0.0686 0.1032 0.0439 0.1076 0.1487 0.2876 0.0298 0.2469 0.0641 0.0719 0.0837 het 3029.02 161 1 7723534 . G A 3029.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.677;DP=161;DS;Dels=0.01;FS=1.408;HRun=0;HaplotypeScore=8.6476;MQ=59.58;MQ0=0;MQRankSum=-1.233;QD=18.70;ReadPosRankSum=-0.032;VQSLOD=3.1087;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,99:161:99:3059,0,1587 1 7723957 7723957 G A exonic CAMTA1 synonymous SNV CAMTA1:NM_001349608:exon8:c.G1260A:p.S420S,CAMTA1:NM_001349612:exon8:c.G1260A:p.S420S,CAMTA1:NM_001349609:exon9:c.G1350A:p.S450S,CAMTA1:NM_001349610:exon9:c.G1350A:p.S450S,CAMTA1:NM_015215:exon9:c.G1350A:p.S450S 0.4 0.39 0.45 0.33 0.43 0.42 0.4450 0.3792 0.5023 0.3479 0.5012 0.4652 0.3819 0.3961 0.43 0.37 0.46 0.41 0.4 rs12128526 COSM3751390;COSM5827995 1(breast);2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Likely benign not_specified RCV000116536.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4477 0.3836 0.5062 0.3893 0.3513 0.5112 0.4621 0.4230 0.3947 0.4396 0.3886 0.4964 0.4333 0.3456 0.4891 0.4624 0.4754 hom 5209.57 148 1 7723957 . G A 5209.57 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.03;MQ0=0;QD=35.20;VQSLOD=8.9071;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:5209,412,0 1 7870048 7870048 T C exonic PER3 synonymous SNV PER3:NM_001289861:exon12:c.T1338C:p.S446S,PER3:NM_001289862:exon12:c.T1338C:p.S446S,PER3:NM_001289863:exon12:c.T1338C:p.S446S,PER3:NM_001289864:exon12:c.T381C:p.S127S,PER3:NM_016831:exon12:c.T1335C:p.S445S 0.88 0.97 0.76 0.72 0.93 0.94 0.8916 0.9634 0.6337 0.7226 0.9525 0.9295 0.9207 0.9361 0.94 0.96 0.93 0.85 0.93 rs228669 COSM4144191 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8810 0.9659 0.6494 0.9403 0.7160 0.9561 0.9280 0.8889 0.9389 0.9258 0.9636 0.7160 0.9570 0.7132 0.9588 0.9299 0.9294 hom 4216.30 134 1 7870048 . T C 4216.30 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4287;MQ=59.72;MQ0=0;QD=31.46;VQSLOD=7.3510;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4216,337,0 1 7880683 7880683 T G exonic PER3 nonsynonymous SNV PER3:NM_001289861:exon16:c.T1940G:p.V647G,PER3:NM_001289862:exon16:c.T1940G:p.V647G,PER3:NM_001289863:exon16:c.T1919G:p.V640G,PER3:NM_001289864:exon16:c.T983G:p.V328G,PER3:NM_016831:exon16:c.T1916G:p.V639G 0.12 0.07 0.21 0.0079 0.2 0.16 0.1662 0.0905 0.1862 0.0078 0.2470 0.1838 0.1659 0.1804 0.16 0.096 0.19 0.098 0.2 rs10462020 . . . . . . . . . . . . . 0.001 0.784 D 0.22 0.516 B 0.115 0.537 B 0.021 0.269 N 1.000 0.192 P 1.975 0.537 M 1.7 0.280 T -5.36 0.852 D 0.153 0.267 -1.097 0.045 T 0.000 0.001 T . . . 0.901 0.180 10.08 0.986 0.427 0.196 0.205 N c -0.790 -1.043 0.020 0.132 0.732 0.924 0 -6.91 0.015 0.678 0.248 -0.121 0.113 0.309 0.252 0.000 0.016 8.540 0.324 . ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8 Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid|Whole_Blood 0.1704 0.0897 0.1920 0.1458 0.0044 0.2445 0.1857 0.1754 0.1784 0.1592 0.0872 0.1611 0.1788 0.0025 0.2477 0.1950 0.1884 het 867.69 82 1 7880683 . T G 867.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.890;DP=82;Dels=0.00;FS=1.960;HRun=1;HaplotypeScore=3.1233;MQ=58.69;MQ0=0;MQRankSum=0.128;QD=10.58;ReadPosRankSum=0.109;VQSLOD=6.2401;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,37:82:99:898,0,1140 1 7887493 7887493 T C exonic PER3 nonsynonymous SNV PER3:NM_001289861:exon18:c.T2504C:p.L835P,PER3:NM_001289862:exon18:c.T2504C:p.L835P,PER3:NM_001289863:exon18:c.T2483C:p.L828P,PER3:NM_001289864:exon18:c.T1547C:p.L516P,PER3:NM_016831:exon18:c.T2480C:p.L827P 0.98 0.98 0.97 1. 0.95 0.98 0.9688 0.9724 0.9892 0.9990 0.9645 0.9591 0.9769 0.9771 0.96 0.97 0.95 0.97 0.97 rs228696 . . . . . . . . . . . . . 0.501 0.077 T 0.0 0.026 B 0.0 0.040 B 0.738 0.064 N 1 0.090 P -1.435 0.006 N 2.88 0.103 T 3.58 0.001 N 0.05 0.100 -0.965 0.383 T 0.000 0.000 T . . . -0.730 0.043 0.061 0.453 0.035 0.002 0.014 N c -1.279 -1.279 1.000 0.747 0.707 0.730 0 2.16 0.265 0.951 0.285 -0.327 0.075 0.002 0.151 0.000 0.016 6.979 0.237 . . . 0.9695 0.9737 0.9858 0.9741 0.9994 0.9680 0.9572 0.9650 0.9782 0.9676 0.9709 0.9845 0.9801 1 0.9691 0.9606 0.9674 hom 4646.80 138 1 7887493 . T C 4646.80 Mask AC=2;AF=1.00;AN=2;DP=138;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.4496;MQ=59.23;MQ0=0;QD=33.67;VQSLOD=7.9222;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,137:138:99:4646,379,0 1 7890064 7890064 A G exonic;splicing PER3;PER3 NM_001289861:exon20:c.3002-2A>G;NM_001289863:exon20:c.2981-2A>G synonymous SNV PER3:NM_001289862:exon19:c.A3057G:p.T1019T,PER3:NM_001289864:exon19:c.A2097G:p.T699T,PER3:NM_016831:exon19:c.A3030G:p.T1010T 0.24 0.24 0.21 0.15 0.29 0.33 0.1347 0.1460 0.0618 0.0671 0.1506 0.1544 0.1582 0.1539 . . . . 0.32 rs12023156 COSM3747080 1(breast);2(liver) . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . . . . . . . . . . . . . . . -0.721 0.044 0.064 0.478 0.039 0.014 0.047 N c -0.742 -0.983 1.000 0.454 0.707 0.730 0 0.119 0.139 -0.791 0.047 -1.623 0.009 0.000 0.063 0.000 0.016 . . . . . 0.1385 0.1506 0.0969 0.1174 0.1019 0.2008 0.1417 0.1659 0.1427 0.4091 0.3826 0.3552 0.4430 0.3528 0.4270 0.4224 0.4245 het 2819.82 173 1 7890064 . A G 2819.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.237;DP=173;Dels=0.00;FS=2.761;HRun=2;HaplotypeScore=9.0990;MQ=59.21;MQ0=1;MQRankSum=-0.569;QD=16.30;ReadPosRankSum=0.270;VQSLOD=3.3368;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,102:173:99:2850,0,1825 1 7890117 7890117 T C exonic PER3 nonsynonymous SNV PER3:NM_001289862:exon19:c.T3110C:p.M1037T,PER3:NM_001289864:exon19:c.T2150C:p.M717T,PER3:NM_016831:exon19:c.T3083C:p.M1028T,PER3:NM_001289861:exon20:c.T3053C:p.M1018T,PER3:NM_001289863:exon20:c.T3032C:p.M1011T 0.19 0.097 0.29 0.051 0.29 0.26 0.2531 0.1146 0.2469 0.0538 0.3247 0.2903 0.2852 0.2677 0.24 0.13 0.3 0.15 0.29 rs2640909 COSM1741534 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract) . . . . . . . . . . . 0.203 0.201 T 0.0 0.163 B 0.001 0.154 B 0.039 0.019 N 1 0.090 P 0 0.065 N 2.58 0.134 T 0.76 0.028 N 0.051 0.043 -0.939 0.428 T 0.000 0.000 T . . . -1.496 0.017 0.003 0.390 0.026 0.001 0.007 N c -1.594 -1.674 1.000 0.462 0.707 0.730 0 -1.54 0.081 -0.207 0.093 0.341 0.273 0.007 0.175 0.031 0.148 3.401 0.068 . ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8 Cells_Transformed_fibroblasts|Esophagus_Muscularis|Whole_Blood 0.1356 0.0570 0.1371 0.1342 0.0241 0.2251 0.1539 0.1548 0.1326 0.2280 0.1115 0.2373 0.3179 0.0489 0.3251 0.2876 0.2697 het 4023.71 246 1 7890117 . T C 4023.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.525;DP=246;Dels=0.00;FS=5.194;HRun=0;HaplotypeScore=9.9578;MQ=59.36;MQ0=0;MQRankSum=-1.743;QD=16.36;ReadPosRankSum=-0.501;VQSLOD=2.2427;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,134:246:99:3409,0,2955 1 7897133 7897133 A G exonic PER3 nonsynonymous SNV PER3:NM_001289862:exon21:c.A3473G:p.H1158R,PER3:NM_001289864:exon21:c.A2513G:p.H838R,PER3:NM_016831:exon21:c.A3446G:p.H1149R,PER3:NM_001289861:exon22:c.A3416G:p.H1139R,PER3:NM_001289863:exon22:c.A3395G:p.H1132R 0.12 0.071 0.21 0.0079 0.2 0.16 0.1659 0.0907 0.1876 0.0073 0.2483 0.1839 0.1674 0.1757 0.16 0.096 0.19 0.098 0.2 rs10462021 COSM3751396 1(large_intestine) . . . . . . . . . . . 0.254 0.189 T 0.002 0.090 B 0.003 0.080 B 0.119 0.027 N 1 0.090 P 0.345 0.112 N 2.57 0.136 T -0.76 0.212 N 0.015 0.007 -0.990 0.327 T 0.000 0.000 T . . . -0.101 0.084 1.720 0.729 0.098 0.023 0.065 N c -1.408 -1.500 0.409 0.202 0.563 0.310 0 -8.51 0.008 -0.017 0.124 -0.855 0.029 0.000 0.063 0.019 0.132 1.389 0.021 Period circadian-like\x2c C-terminal ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8|ENSG00000049245.8 Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid|Whole_Blood 0.1706 0.0902 0.1920 0.1458 0.0042 0.2446 0.1861 0.1758 0.1777 0.1591 0.0875 0.1611 0.1788 0.0025 0.2480 0.1947 0.1878 het 1030.65 79 1 7897133 . A G 1030.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=79;Dels=0.00;FS=1.874;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.456;QD=13.05;ReadPosRankSum=-0.260;VQSLOD=6.6268;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,41:79:99:1061,0,983 1 7913430 7913430 G A exonic UTS2 nonsynonymous SNV UTS2:NM_021995:exon1:c.C62T:p.T21M 0.48 0.43 0.41 0.35 0.57 0.63 0.5229 0.4688 0.2982 0.3526 0.4511 0.5730 0.5650 0.6278 0.54 0.47 0.57 0.46 0.51 rs228648 COSM3751400 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.017 0.512 D 0.216 0.285 B 0.023 0.188 B . . . 1 0.090 P . . . 1.34 0.348 T -0.58 0.174 N 0.053 0.035 -0.943 0.422 T 0.000 0.000 T . . . 1.600 0.254 13.85 0.930 0.220 0.012 0.042 N c -0.958 -1.083 0.395 0.201 0.497 0.185 0 -3.06 0.050 -0.447 0.068 -0.102 0.116 0.001 0.137 0.052 0.166 10.906 0.461 . . . 0.5129 0.4691 0.3172 0.6255 0.3496 0.4497 0.5722 0.5339 0.6302 0.5079 0.4647 0.3852 0.6225 0.3683 0.4607 0.5617 0.5358 het 1040.38 89 1 7913430 . G A 1040.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.387;DP=89;Dels=0.00;FS=1.870;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=2.047;QD=11.69;ReadPosRankSum=1.426;VQSLOD=5.6363;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,39:89:99:1070,0,1283 1 8390495 8390495 A G exonic SLC45A1 synonymous SNV SLC45A1:NM_001080397:exon5:c.A1044G:p.P348P 0.78 0.74 0.78 0.85 0.74 0.79 0.7693 0.7588 0.7824 0.8524 0.8560 0.7457 0.7664 0.7799 0.74 0.75 0.74 0.71 0.5 rs1058619 COSM3749072;COSM3749071 1(thyroid);4(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7694 0.7563 0.7774 0.6359 0.8537 0.8548 0.7484 0.7389 0.7807 0.7804 0.7466 0.7673 0.6733 0.8605 0.8697 0.7717 0.8031 het 223.13 31 1 8390495 . A G 223.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.988;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7776;MQ=59.25;MQ0=0;MQRankSum=0.094;QD=7.20;ReadPosRankSum=-0.188;VQSLOD=5.1249;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,11:31:99:253,0,440 1 8390888 8390888 G A exonic SLC45A1 synonymous SNV SLC45A1:NM_001080397:exon5:c.G1437A:p.P479P 0.34 0.54 0.29 0.17 0.33 0.3 0.3144 0.5137 0.2599 0.1689 0.2096 0.3238 0.3114 0.3086 0.39 0.51 0.32 0.36 0.43 rs2289731 COSM4144193;COSM426744 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3049 0.5146 0.2643 0.4091 0.1700 0.2037 0.3176 0.3328 0.3099 0.3433 0.5203 0.2768 0.3675 0.1677 0.1916 0.3022 0.2781 het 605.09 88 1 8390888 . G A 605.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.843;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9937;MQ=58.62;MQ0=0;MQRankSum=0.162;QD=6.88;ReadPosRankSum=-0.478;VQSLOD=5.1706;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,27:88:99:635,0,1694 1 8418644 8418644 C A exonic RERE 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 0.8 0.86 0.78 0.9 0.67 0.75 0.7221 0.8407 0.7936 0.8888 0.5744 0.6787 0.7215 0.7390 0.73 0.84 0.68 0.79 0.48 rs11121172 COSM681943 1(lung);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7177 0.8441 0.7906 0.7888 0.8932 0.5656 0.6675 0.7118 0.7403 0.7193 0.8373 0.7897 0.7979 0.9005 0.5594 0.6675 0.6495 het 213.28 19 1 8418644 . C A 213.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.184;DP=19;Dels=0.00;FS=2.077;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.204;QD=11.23;ReadPosRankSum=0.449;VQSLOD=6.2385;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,9:19:99:243,0,274 1 8418650 8418650 T C exonic RERE 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 0.8 0.87 0.78 0.9 0.67 0.75 0.7225 0.8439 0.7936 0.8889 0.5734 0.6795 0.7195 0.7379 0.73 0.84 0.68 0.77 0.51 rs1058766 COSM3751406 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7186 0.8477 0.7910 0.7921 0.8940 0.5666 0.6682 0.7124 0.7403 0.7210 0.8395 0.7909 0.8027 0.9016 0.5598 0.6688 0.6546 het 252.58 21 1 8418650 . T C 252.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.532;DP=21;Dels=0.00;FS=4.269;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.608;QD=12.03;ReadPosRankSum=0.988;VQSLOD=5.3832;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,10:21:99:283,0,351 1 9009406 9009406 C T exonic CA6 nonsynonymous SNV CA6:NM_001215:exon2:c.C164T:p.T55M,CA6:NM_001270500:exon2:c.C164T:p.T55M 0.27 0.081 0.38 0.24 0.42 0.33 0.3544 0.1368 0.3180 0.2471 0.4672 0.4141 0.3708 0.2854 0.32 0.14 0.41 0.21 0.39 rs2274327 COSM4144237;COSM4144236 1(thyroid) . . . . . . . . . . . 0.101 0.496 T 0.987 0.600 D 0.715 0.528 P 0.734 0.098 N 1 0.090 P 1.335 0.334 L -0.32 0.682 T -0.27 0.291 N 0.069 0.426 -1.028 0.210 T 0.000 0.000 T . . . 3.011 0.422 22.3 0.991 0.530 0.033 0.083 N c -1.054 -1.300 0.990 0.320 0.487 0.133 0 -7.73 0.011 -0.241 0.089 -1.310 0.013 0.000 0.063 0.001 0.043 12.547 0.554 Alpha carbonic anhydrase . . 0.3583 0.1278 0.3189 0.5068 0.2462 0.4649 0.4041 0.4001 0.2799 0.3213 0.1341 0.3529 0.5563 0.2600 0.4593 0.3935 0.3932 het 684.62 62 1 9009406 . C T 684.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.852;DP=62;Dels=0.00;FS=5.329;HRun=0;HaplotypeScore=0.0000;MQ=58.64;MQ0=0;MQRankSum=1.150;QD=11.04;ReadPosRankSum=0.951;VQSLOD=4.9975;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,27:62:99:715,0,994 1 9009444 9009444 A C exonic CA6 nonsynonymous SNV CA6:NM_001215:exon2:c.A202C:p.M68L,CA6:NM_001270500:exon2:c.A202C:p.M68L 0.5 0.56 0.47 0.41 0.54 0.5 0.4908 0.5392 0.3747 0.4284 0.5486 0.5145 0.4922 0.4548 0.53 0.55 0.52 0.47 0.57 rs2274328 COSM1599878;COSM1599877 1(haematopoietic_and_lymphoid_tissue);2(liver);1(thyroid);1(central_nervous_system) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1 0.588 P -2.295 0.001 N 0.07 0.617 T 0.77 0.020 N 0.093 0.092 -0.928 0.444 T 0.000 0.000 T . . . -1.161 0.026 0.008 0.303 0.016 0.002 0.010 N c -1.321 -1.198 0.325 0.194 0.487 0.133 0 2.4 0.284 0.643 0.243 -0.305 0.080 0.416 0.261 0.002 0.062 4.599 0.117 Alpha carbonic anhydrase . . 0.4892 0.5381 0.3807 0.6239 0.4265 0.5470 0.5102 0.5090 0.4529 0.5087 0.5392 0.4305 0.7053 0.4134 0.5347 0.4965 0.4929 het 879.15 73 1 9009444 . A C 879.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.741;DP=73;Dels=0.00;FS=0.951;HRun=0;HaplotypeScore=4.3123;MQ=59.37;MQ0=0;MQRankSum=0.116;QD=12.04;ReadPosRankSum=-0.249;VQSLOD=6.1297;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:40,33:73:99:909,0,1101 1 9079365 9079365 G A exonic SLC2A7 synonymous SNV SLC2A7:NM_207420:exon4:c.C339T:p.I113I 0.085 0.1 0.06 0.19 0.004 0.056 0.0355 0.0910 0.0622 0.1824 0.0208 0.0039 0.0334 0.0381 0.032 0.085 0.0044 0.087 . rs10864379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0363 0.0888 0.0625 0.0035 0.1856 0.0204 0.0039 0.0299 0.0386 0.0417 0.0898 0.0489 0.0033 0.1807 0.0206 0.0053 0.0244 het 802.58 59 1 9079365 . G A 802.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.189;DP=59;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9987;MQ=59.22;MQ0=0;MQRankSum=-1.253;QD=13.60;ReadPosRankSum=-0.375;VQSLOD=6.1784;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,29:59:99:833,0,765 1 9304979 9304986 CCCAGGCA - exonic H6PD nonframeshift deletion H6PD:NM_001282587:exon2:c.24_26del:p.W8_H9delinsC 0.11 0.011 0.23 0.072 0.15 0.15 0.1526 0.0293 0.3293 0.0847 0.1725 0.1478 0.1498 0.1555 0.098 0.029 0.13 . . rs139855605 COSN518150 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1594 0.0247 0.3248 0.1343 0.0869 0.1703 0.1423 0.1466 0.1532 0.1198 0.0282 0.2993 0.1325 0.0666 0.1682 0.1548 0.1605 het 1074.52 95 1 9304978 . CCCCAGGCA C 1074.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.133;DP=95;FS=0.000;HRun=0;HaplotypeScore=663.9329;MQ=53.72;MQ0=0;MQRankSum=-5.411;QD=11.19;ReadPosRankSum=-0.750;set=variant2 GT:AD:DP:GQ:PL 0/1:79,17:95:99:1114,0,8158 1 9324571 9324571 T C exonic H6PD synonymous SNV H6PD:NM_001282587:exon5:c.T2052C:p.Y684Y,H6PD:NM_004285:exon5:c.T2019C:p.Y673Y 0.4 0.5 0.42 0.17 0.41 0.5 0.4157 0.4853 0.5444 0.1495 0.3444 0.4022 0.4022 0.5032 0.43 0.49 0.4 0.43 0.36 rs9434742 COSM426841 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4124 0.4848 0.5268 0.4239 0.1535 0.3376 0.3979 0.4019 0.5011 0.4092 0.4845 0.4713 0.4 0.1506 0.3406 0.4051 0.4252 het 1345.74 109 1 9324571 . T C 1345.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.578;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8815;MQ=58.89;MQ0=0;MQRankSum=1.598;QD=12.35;ReadPosRankSum=1.154;VQSLOD=5.8438;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,50:109:99:1376,0,1636 1 9324670 9324670 A G exonic H6PD synonymous SNV H6PD:NM_001282587:exon5:c.A2151G:p.S717S,H6PD:NM_004285:exon5:c.A2118G:p.S706S 0.4 0.51 0.43 0.15 0.4 0.49 0.4093 0.4942 0.5433 0.1347 0.3456 0.3926 0.4 0.4979 0.42 0.49 0.39 0.46 0.28 rs9434743 COSM3751457 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4070 0.4949 0.5269 0.4069 0.1391 0.3373 0.3900 0.3941 0.4966 0.4060 0.4930 0.4797 0.3907 0.1324 0.3390 0.3965 0.4105 het 1194.58 108 1 9324670 . A G 1194.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.341;DP=108;Dels=0.00;FS=18.546;HRun=0;HaplotypeScore=2.2566;MQ=58.75;MQ0=0;MQRankSum=0.526;QD=11.06;ReadPosRankSum=-0.162;VQSLOD=2.7642;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,47:108:99:1225,0,1618 1 9416346 9416346 C T exonic SPSB1 synonymous SNV SPSB1:NM_025106:exon2:c.C396T:p.L132L 0.2 0.065 0.18 0.28 0.32 0.18 0.2535 0.0921 0.1220 0.2989 0.3248 0.3016 0.2746 0.1993 0.23 0.097 0.3 0.23 0.36 rs3795309 COSM3747118 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2519 0.0870 0.1345 0.2272 0.2937 0.3156 0.3074 0.2537 0.1987 0.2367 0.0913 0.1667 0.2285 0.2571 0.3091 0.3035 0.2797 het 1174.32 81 1 9416346 . C T 1174.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.400;DP=81;Dels=0.00;FS=0.859;HRun=1;HaplotypeScore=1.8295;MQ=59.14;MQ0=0;MQRankSum=0.506;QD=14.50;ReadPosRankSum=1.432;VQSLOD=5.6617;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,39:81:99:1204,0,1134 1 9811541 9811541 A G exonic CLSTN1 synonymous SNV CLSTN1:NM_014944:exon4:c.T609C:p.V203V,CLSTN1:NM_001009566:exon5:c.T639C:p.V213V,CLSTN1:NM_001302883:exon5:c.T639C:p.V213V 0.31 0.61 0.22 0.19 0.077 0.33 0.1771 0.5353 0.2567 0.1770 0.0992 0.0854 0.1645 0.2984 0.23 0.52 0.084 0.45 0.057 rs11674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1692 0.5468 0.2376 0.0669 0.1718 0.1024 0.0849 0.1400 0.2975 0.2217 0.5455 0.2045 0.0695 0.1735 0.0939 0.0789 0.1332 het 1488.48 101 1 9811541 . A G 1488.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.651;DP=101;Dels=0.00;FS=2.986;HRun=0;HaplotypeScore=0.0000;MQ=59.17;MQ0=0;MQRankSum=1.324;QD=14.74;ReadPosRankSum=-0.709;VQSLOD=6.1443;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,60:101:99:1518,0,1142 1 10421878 10421878 A G exonic KIF1B synonymous SNV KIF1B:NM_015074:exon38:c.A4161G:p.P1387P 0.08 0.0045 0.092 0.013 0.12 0.2 0.1128 0.0222 0.0561 0.0052 0.1102 0.1292 0.1093 0.2003 0.09 0.021 0.13 0.043 0.074 rs12125492 COSM3747465 1(liver) other|Likely benign|Likely benign|Likely benign not_specified|Neuroblastoma|Charcot-Marie-Tooth\x2c_Type_2|Pheochromocytoma RCV000117407.3|RCV000311387.1|RCV000336025.1|RCV000404134.1 MedGen|MeSH:MedGen:OMIM|MedGen|MedGen:OMIM CN169374|D009447:C0027819:256700|CN239171|C0031511:171300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1120 0.0208 0.0575 0.1950 0.0041 0.1144 0.1263 0.1119 0.1976 0.0854 0.0218 0.0680 0.1623 0.0031 0.1042 0.1237 0.1255 het 2217.43 209 1 10421878 . A G 2217.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.757;DP=209;Dels=0.00;FS=0.528;HRun=1;HaplotypeScore=1.7046;MQ=59.60;MQ0=0;MQRankSum=-0.302;QD=10.61;ReadPosRankSum=-0.067;VQSLOD=6.7002;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:120,88:209:99:2247,0,3345 1 10511544 10511544 C T exonic CENPS-CORT;CORT synonymous SNV CORT:NM_001302:exon2:c.C210T:p.A70A,CENPS-CORT:NM_001243768:exon4:c.C324T:p.A108A,CENPS-CORT:NM_198544:exon5:c.C387T:p.A129A 0.29 0.021 0.31 0.49 0.39 0.32 0.3679 0.0723 0.3283 0.4906 0.3945 0.4097 0.4241 0.3250 0.29 0.08 0.4 0.2 0.27 rs628462 COSM1332195;COSM1332194 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3692 0.0619 0.3400 0.4005 0.4896 0.3975 0.4032 0.4054 0.3284 0.3111 0.0708 0.3756 0.3967 0.4771 0.3938 0.4048 0.3706 het 324.70 25 1 10511544 . C T 324.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.548;DP=25;Dels=0.00;FS=6.701;HRun=0;HaplotypeScore=0.9916;MQ=60.00;MQ0=0;MQRankSum=-0.837;QD=12.99;ReadPosRankSum=-0.144;VQSLOD=4.8090;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,12:25:99:355,0,355 1 10511589 10511589 T C exonic CENPS-CORT;CORT synonymous SNV CORT:NM_001302:exon2:c.T255C:p.S85S,CENPS-CORT:NM_001243768:exon4:c.T369C:p.S123S,CENPS-CORT:NM_198544:exon5:c.T432C:p.S144S 0.87 0.88 0.82 0.86 0.93 0.83 0.8965 0.8969 0.7740 0.8237 0.8631 0.9404 0.9087 0.8556 0.93 0.91 0.94 0.83 0.81 rs666103 COSM146398;COSM146397 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8922 0.8937 0.7932 0.9892 0.8251 0.8679 0.9390 0.9011 0.8561 0.9116 0.8981 0.8496 0.9834 0.8393 0.8645 0.9408 0.9018 hom 599.59 22 1 10511589 . T C 599.59 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=27.25;VQSLOD=8.4574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:54.13:633,54,0 1 10596341 10596341 C T exonic PEX14 synonymous SNV PEX14:NM_004565:exon3:c.C156T:p.F52F 0.23 0.066 0.43 0.2 0.31 0.25 0.2843 0.1040 0.4313 0.2069 0.3381 0.3052 0.2577 0.2303 0.25 0.11 0.32 0.17 0.39 rs12375 COSM3750201 1(large_intestine) Benign|Benign not_specified|Zellweger_syndrome RCV000253456.1|RCV000408124.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0043459:214100:ORPHA912:88469006 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2951 0.0992 0.4109 0.2756 0.2106 0.3299 0.3132 0.2915 0.2296 0.2537 0.0992 0.3624 0.2550 0.2005 0.3353 0.3220 0.2906 het 862.89 65 1 10596341 . C T 862.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.121;DP=65;Dels=0.00;FS=9.134;HRun=2;HaplotypeScore=1.9311;MQ=59.14;MQ0=0;MQRankSum=0.427;QD=13.28;ReadPosRankSum=-1.320;VQSLOD=4.7518;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,34:65:99:893,0,811 1 11087524 11087524 G A exonic MASP2 synonymous SNV MASP2:NM_006610:exon11:c.C1479T:p.S493S 0.69 0.3 0.8 0.87 0.84 0.8 0.7855 0.3490 0.8305 0.8675 0.8269 0.8289 0.8084 0.7929 0.67 0.36 0.83 0.56 0.84 rs1782455 COSM527457 1(pancreas) Benign|Benign|Benign|Benign Amyotrophic_Lateral_Sclerosis\x2c_Dominant|MASP2_deficiency|Frontotemporal_dementia|not_specified RCV000262387.1|RCV000294328.1|RCV000357134.1|RCV000455702.1 MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen CN239175|C3151085:613791:ORPHA331187|C0338451:600274:ORPHA282:230270009|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7941 0.3379 0.8241 0.7317 0.8664 0.8306 0.8344 0.8007 0.7934 0.6937 0.3467 0.8198 0.6854 0.8818 0.8277 0.8310 0.7821 hom 7432.36 230 1 11087524 . G A 7432.36 Mask AC=2;AF=1.00;AN=2;DP=230;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5993;MQ=59.23;MQ0=0;QD=32.31;VQSLOD=8.1073;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7431,581,0 1 11090916 11090916 C A exonic MASP2 nonsynonymous SNV MASP2:NM_006610:exon9:c.G1111T:p.D371Y 0.58 0.17 0.75 0.67 0.82 0.68 0.7359 0.2507 0.8123 0.6551 0.8172 0.8092 0.7616 0.7001 0.63 0.27 0.81 0.42 0.78 rs12711521 COSM3996739 1(haematopoietic_and_lymphoid_tissue) Benign|Benign MASP2_deficiency|not_specified RCV000396976.1|RCV000454761.1 MedGen:OMIM:Orphanet|MedGen C3151085:613791:ORPHA331187|CN169374 . . . . . . 0.057 0.379 T 0.748 0.413 P 0.566 0.479 P 0.005 0.336 N 0.060 0.373 P 2.855 0.832 M -0.28 0.676 T -2.85 0.600 D 0.296 0.356 -1.010 0.270 T 0.000 0.000 T . . . 2.949 0.415 22.1 0.991 0.530 0.454 0.273 N c -0.107 -0.279 1.000 0.517 0.498 0.195 0 3.5 0.390 0.882 0.276 0.071 0.179 0.019 0.194 0.048 0.163 10.583 0.443 Sushi/SCR/CCP domain ENSG00000271895.1|ENSG00000171824.9|ENSG00000226849.1|ENSG00000171824.9|ENSG00000009724.12|ENSG00000271895.1|ENSG00000271895.1|ENSG00000171824.9 Adipose_Subcutaneous|Brain_Cerebellum|Brain_Cortex|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7464 0.2350 0.8028 0.6923 0.6559 0.8200 0.8157 0.7630 0.7001 0.6413 0.2450 0.7914 0.6533 0.6636 0.8153 0.8128 0.7505 hom 2919 104 1 11090916 . C A 2919 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.266;DP=104;Dels=0.00;FS=3.054;HRun=1;HaplotypeScore=4.5539;MQ=59.64;MQ0=0;MQRankSum=1.699;QD=28.07;ReadPosRankSum=-0.666;VQSLOD=3.8605;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,103:104:99:2952,199,0 1 11106666 11106666 T C exonic MASP2 nonsynonymous SNV MASP2:NM_006610:exon3:c.A359G:p.D120G,MASP2:NM_139208:exon3:c.A359G:p.D120G 0.012 0.0008 0.023 . 0.039 0.0041 0.0225 0.0050 0.0088 0 0.0479 0.0326 0.0204 0.0041 0.021 0.0059 0.029 0.022 0.033 rs72550870 COSM1320150 1(ovary) other|Benign MASP2_deficiency|not_specified RCV000005520.4|RCV000239142.1 MedGen:OMIM:Orphanet|MedGen C3151085:613791:ORPHA331187|CN169374 . . . . . . 0.0 0.912 D 0.996 0.670 D 0.954 0.710 D 0.000 0.629 D 1 0.810 A 3.615 0.940 H 1.1 0.390 T -6.57 0.936 D 0.97 0.970 -0.375 0.728 T 0.104 0.382 T . . . 5.811 0.795 27.2 0.998 0.923 0.974 0.742 D c 0.798 0.713 1.000 0.747 0.554 0.283 0 4.77 0.603 7.729 0.837 1.061 0.807 1.000 0.715 0.990 0.544 13.272 0.594 CUB domain . . 0.0216 0.0043 0.0102 0.0033 0 0.0473 0.0323 0.0173 0.0040 0.0252 0.0054 0.0084 0.0033 0 0.0461 0.0355 0.0337 het 843.17 81 1 11106666 . T C 843.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.011;DP=81;Dels=0.00;FS=0.861;HRun=1;HaplotypeScore=1.6439;MQ=59.72;MQ0=0;MQRankSum=0.462;QD=10.41;ReadPosRankSum=-0.532;VQSLOD=5.9209;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,33:81:99:873,0,1204 1 11119899 11119899 T C exonic SRM synonymous SNV SRM:NM_003132:exon1:c.A102G:p.S34S 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 0.36 0.61 rs7545802 COSM4142128 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 417.44 17 1 11119899 . T C 417.44 Mask AC=2;AF=1.00;AN=2;DP=17;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.39;MQ0=0;QD=24.56;VQSLOD=6.7419;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,17:17:39.10:450,39,0 1 11132217 11132217 G A exonic EXOSC10 synonymous SNV EXOSC10:NM_002685:exon19:c.C2094T:p.R698R,EXOSC10:NM_001001998:exon20:c.C2169T:p.R723R 0.61 0.2 0.76 0.78 0.74 0.72 0.7022 0.2696 0.8060 0.7950 0.7227 0.7326 0.7081 0.7220 0.59 0.29 0.74 0.53 0.7 rs1130683 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7108 0.2533 0.7993 0.5819 0.7885 0.7204 0.7420 0.7036 0.7217 0.6023 0.2664 0.7799 0.5497 0.7887 0.7101 0.7384 0.6830 hom 4086.71 137 1 11132217 . G A 4086.71 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.53;MQ0=0;QD=29.83;VQSLOD=9.2324;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4086,331,0 1 11141187 11141187 C G exonic EXOSC10 synonymous SNV EXOSC10:NM_001001998:exon11:c.G1389C:p.P463P,EXOSC10:NM_002685:exon11:c.G1389C:p.P463P 0.77 0.54 0.84 0.94 0.77 0.87 0.7790 0.5476 0.8896 0.9412 0.7737 0.7617 0.7892 0.8338 0.69 0.56 0.76 0.76 0.76 rs2258621 COSM4142130;COSM4142129 1(skin);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7844 0.5371 0.8822 0.6479 0.9384 0.7750 0.7663 0.7717 0.8330 0.7153 0.5512 0.8652 0.6159 0.9400 0.7726 0.7640 0.7541 hom 2548.96 87 1 11141187 . C G 2548.96 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.8941;MQ=59.25;MQ0=0;QD=29.30;VQSLOD=7.3208;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2582,226,0 1 11205058 11205058 C T exonic MTOR synonymous SNV MTOR:NM_004958:exon33:c.G4731A:p.A1577A 0.55 0.064 0.7 0.82 0.74 0.62 0.6779 0.1588 0.7357 0.8203 0.7245 0.7321 0.7004 0.6512 0.55 0.18 0.73 0.46 0.69 rs1057079 COSM4142146 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6868 0.1410 0.7281 0.5828 0.8135 0.7214 0.7409 0.6849 0.6543 0.5689 0.1535 0.7124 0.5530 0.8004 0.7093 0.7379 0.6735 hom 6691.67 237 1 11205058 . C T 6691.67 Mask AC=2;AF=1.00;AN=2;DP=237;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.61;MQ0=0;QD=28.23;VQSLOD=8.3208;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,237:237:99:6691,503,0 1 11288758 11288758 G A exonic MTOR synonymous SNV MTOR:NM_004958:exon19:c.C2997T:p.N999N 0.7 0.34 0.81 0.92 0.72 0.86 0.7429 0.3842 0.8724 0.9192 0.7455 0.7316 0.7731 0.8284 0.62 0.4 0.73 0.65 0.7 rs1064261 COSM4142152 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7517 0.3697 0.8633 0.6567 0.9183 0.7462 0.7336 0.7446 0.8278 0.6449 0.3858 0.8365 0.6126 0.9283 0.7467 0.7263 0.7157 hom 2823.14 87 1 11288758 . G A 2823.14 Mask AC=2;AF=1.00;AN=2;DP=87;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.74;MQ0=0;QD=32.45;VQSLOD=9.1889;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:87:99:2856,232,0 1 11301714 11301714 A G exonic MTOR synonymous SNV MTOR:NM_004958:exon10:c.T1437C:p.D479D 0.64 0.22 0.76 0.88 0.72 0.78 0.7170 0.2905 0.8029 0.8811 0.7454 0.7313 0.7577 0.7681 0.59 0.31 0.73 0.59 0.57 rs1135172 COSM4142157 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7257 0.2740 0.7938 0.6566 0.8782 0.7473 0.7333 0.7251 0.7700 0.6129 0.2871 0.7751 0.6126 0.8837 0.7487 0.7263 0.7070 hom 7327.47 246 1 11301714 . A G 7327.47 Mask AC=2;AF=1.00;AN=2;DP=246;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.9392;MQ=59.20;MQ0=0;QD=29.79;VQSLOD=4.5779;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,246:246:99:7326,602,0 1 11561593 11561593 G A exonic DISP3 nonsynonymous SNV DISP3:NM_020780:exon2:c.G544A:p.G182S 0.37 0.14 0.63 0.27 0.66 0.3 0.5561 0.2300 0.6722 0.2823 0.6473 0.6451 0.6008 0.3745 0.51 0.25 0.63 0.34 0.43 rs2817580 COSM3750253;COSM3750254 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.008 0.135 B 0.011 0.145 B . . . 1 0.090 P 0 0.065 N 1.99 0.217 T -0.31 0.121 N 0.063 0.048 -0.987 0.334 T 0.000 0.000 T . . . -1.561 0.015 0.002 0.962 0.284 0.076 0.134 N c -1.167 -1.206 0.037 0.143 0.495 0.175 0 0.794 0.177 0.571 0.232 0.784 0.316 0.002 0.151 0.002 0.062 6.431 0.209 . . . 0.5487 0.2079 0.6644 0.5536 0.2801 0.6370 0.6366 0.5932 0.3567 0.4976 0.2128 0.6790 0.5497 0.2859 0.6190 0.6426 0.5645 het 290.56 28 1 11561593 . G A 290.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.952;DP=28;Dels=0.00;FS=3.674;HRun=0;HaplotypeScore=0.7887;MQ=58.33;MQ0=0;MQRankSum=0.073;QD=10.38;ReadPosRankSum=1.391;VQSLOD=4.9796;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,12:28:99:321,0,455 1 11771988 11771988 A G exonic DRAXIN synonymous SNV DRAXIN:NM_198545:exon4:c.A723G:p.L241L 0.097 0.094 0.082 0.066 0.13 0.11 0.1301 0.1037 0.0970 0.0492 0.1620 0.1469 0.1179 0.1335 0.12 0.096 0.13 0.098 0.13 rs17037327 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1202 0.0915 0.0899 0.1107 0.0520 0.1455 0.1381 0.1196 0.1259 0.1163 0.0913 0.0993 0.1060 0.0494 0.1453 0.1304 0.1466 het 773.04 61 1 11771988 . A G 773.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.791;DP=61;Dels=0.00;FS=2.178;HRun=0;HaplotypeScore=2.7769;MQ=59.62;MQ0=0;MQRankSum=-0.036;QD=12.67;ReadPosRankSum=-0.137;VQSLOD=6.3076;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:29,32:61:99:803,0,699 1 11854457 11854457 G A exonic MTHFR synonymous SNV MTHFR:NM_001330358:exon8:c.C1428T:p.F476F,MTHFR:NM_005957:exon8:c.C1305T:p.F435F 0.9 0.66 0.97 1. 1. 1. 0.9697 0.6834 0.9845 0.9990 1 0.9974 0.9845 0.9992 0.89 0.68 1. 0.85 1. rs4846051 . . Benign|Benign not_specified|Neural_tube_defects\x2c_folate-sensitive RCV000153514.4|RCV000293357.1 MedGen|MedGen:OMIM CN169374|C1866558:601634 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9755 0.6770 0.9820 0.9850 0.9992 1 0.9984 0.9803 0.9992 0.9091 0.6825 0.9809 0.9768 0.9988 1 0.9992 0.9867 hom 5799.26 194 1 11854457 . G A 5799.26 Mask AC=2;AF=1.00;AN=2;DP=194;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5769;MQ=58.91;MQ0=0;QD=29.89;VQSLOD=8.9623;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,194:194:99:5799,442,0 1 11856378 11856378 G A exonic MTHFR nonsynonymous SNV MTHFR:NM_001330358:exon5:c.C788T:p.A263V,MTHFR:NM_005957:exon5:c.C665T:p.A222V 0.25 0.09 0.47 0.3 0.36 0.12 0.3037 0.1124 0.5141 0.3052 0.2227 0.3450 0.3062 0.1409 0.27 0.12 0.35 0.16 0.35 rs1801133 COSM146404;COSM3927609 1(stomach);3(haematopoietic_and_lymphoid_tissue);24(soft_tissue);1(prostate) other|Uncertain significance|other|drug response|drug response|Likely benign|drug response|not provided|Benign MTHFR_deficiency\x2c_thermolabile_type|Gastrointestinal_stromal_tumor|not_provided|cyclophosphamide_response_-_Toxicity/ADR|carboplatin_response_-_Efficacy|Neural_tube_defects\x2c_folate-sensitive|methotrexate_response_-_Dosage\x2c_Efficacy\x2c_Toxicity/ADR|Neoplasm_of_stomach|not_specified RCV000003697.6|RCV000144921.1|RCV000153516.4|RCV000211133.1|RCV000211336.1|RCV000259890.1|RCV000417131.1|RCV000427078.1|RCV000428048.1 MedGen|MeSH:MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen|MedGen:OMIM|MedGen|MeSH:MedGen:OMIM:SNOMED_CT|MedGen C1856059|D046152:C0238198:606764:ORPHA44890|CN221809|CN236519|CN236495|C1866558:601634|CN240598|D013274:C0038356:613659:126824007|CN169374 Homocysteine levels . .05 20031578 rs1801133 8E-35 0.002 0.721 D 0.998 0.764 D 0.941 0.759 D 0.000 0.843 D 0.000 0.588 P 2.965 0.855 M -4.03 0.964 D -3.76 0.712 D 0.955 0.952 -1.455 0.000 T 0.000 0.000 T . . . 4.914 0.660 25.0 0.999 0.995 0.980 0.783 D c 0.739 0.658 1.0 0.983 0.722 0.854 0 5.08 0.682 9.137 0.937 1.048 0.713 1.000 0.715 0.530 0.276 17.432 0.874 FAD-linked oxidoreductase-like ENSG00000242349.1 Nerve_Tibial 0.3143 0.1055 0.5031 0.4572 0.2937 0.2300 0.3397 0.3254 0.1444 0.2572 0.1131 0.4845 0.4470 0.2866 0.2351 0.3265 0.2633 het 2598.71 239 1 11856378 . G A 2598.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.571;DP=239;DS;Dels=0.00;FS=2.975;HRun=0;HaplotypeScore=7.9562;MQ=59.34;MQ0=0;MQRankSum=1.340;QD=10.87;ReadPosRankSum=0.229;VQSLOD=4.5684;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:137,101:239:99:2629,0,3877 1 11884555 11884555 A G exonic CLCN6 nonsynonymous SNV CLCN6:NM_001256959:exon7:c.A527G:p.E176G,CLCN6:NM_001286:exon8:c.A593G:p.E198G 1. 1. 1. 1. 1. 1. 0.9994 0.9997 0.9996 1 1 0.9990 0.9989 1 1. 1. 1. 1. 0.79 rs198400 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.000 0.843 N 0.883 0.280 P -3.9 0.000 N 0.63 0.531 T 7.57 0.000 N 0.335 0.436 -0.910 0.469 T 0.000 0.000 T . . . 1.519 0.245 13.41 0.740 0.102 0.207 0.209 N c -0.991 -0.593 1.000 0.747 0.461 0.090 0 5.79 0.917 7.784 0.842 0.138 0.222 1.000 0.715 0.988 0.529 14.207 0.651 Chloride channel\x2c core . . 0.9994 0.9997 0.9997 1 1 1 0.9989 0.9996 0.9999 0.9997 0.9999 0.9988 1 1 1 0.9995 0.9990 hom 3851.55 124 1 11884555 . A G 3851.55 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.4734;MQ=58.46;MQ0=0;QD=31.06;VQSLOD=7.8971;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3851,295,0 1 12024235 12024235 C T exonic PLOD1 synonymous SNV PLOD1:NM_000302:exon12:c.C1206T:p.N402N,PLOD1:NM_001316320:exon13:c.C1347T:p.N449N 0.35 0.27 0.35 0.38 0.32 0.45 0.3631 0.2908 0.3748 0.3933 0.5194 0.3325 0.3987 0.4434 0.31 0.29 0.32 0.37 0.2 rs1130529 COSM3996784;COSM3996785 2(haematopoietic_and_lymphoid_tissue);2(thyroid) Benign|Benign not_specified|Ehlers-Danlos_syndrome\x2c_hydroxylysine-deficient RCV000252620.3|RCV000350343.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0268342:225400:ORPHA1900:25606004 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3624 0.2925 0.3687 0.2219 0.3874 0.5038 0.3279 0.3640 0.4443 0.3530 0.2900 0.3636 0.2351 0.3990 0.5020 0.3484 0.4018 het 3151.38 244 1 12024235 . C T 3151.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.043;DP=244;DS;Dels=0.00;FS=6.254;HRun=0;HaplotypeScore=4.2434;MQ=59.28;MQ0=0;MQRankSum=0.826;QD=12.92;ReadPosRankSum=-0.892;VQSLOD=4.6730;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,119:244:99:3181,0,3074 1 12082926 12082926 A G exonic MIIP nonsynonymous SNV MIIP:NM_021933:exon4:c.A499G:p.K167E 0.67 0.8 0.6 0.55 0.73 0.61 0.7058 0.7973 0.5936 0.5744 0.8337 0.7297 0.7094 0.6438 0.74 0.79 0.71 0.67 0.58 rs2295283 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.201 0.166 N 1 0.090 P -1.545 0.005 N 2.68 0.124 T 1.84 0.005 N 0.016 0.003 -1.010 0.268 T 0.000 0.000 T . . . -0.850 0.038 0.033 0.725 0.097 0.006 0.028 N c -1.499 -1.351 1.000 0.517 0.707 0.730 0 1.47 0.217 2.408 0.440 0.038 0.153 0.682 0.282 0.019 0.132 5.711 0.171 . ENSG00000116688.12|ENSG00000116688.12|ENSG00000116688.12|ENSG00000083444.12|ENSG00000116688.12|ENSG00000116691.6 Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Whole_Blood|Whole_Blood|Whole_Blood 0.6826 0.7910 0.5676 0.6075 0.5499 0.8228 0.7173 0.6921 0.6279 0.7440 0.7845 0.6098 0.5993 0.5762 0.8246 0.7310 0.7320 het 800.59 44 1 12082926 . A G 800.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=44;Dels=0.00;FS=1.306;HRun=0;HaplotypeScore=3.8277;MQ=59.48;MQ0=0;MQRankSum=-0.920;QD=18.20;ReadPosRankSum=0.391;VQSLOD=5.3199;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,30:44:99:831,0,345 1 12164437 12164437 C T exonic TNFRSF8 synonymous SNV TNFRSF8:NM_001243:exon4:c.C270T:p.D90D 0.29 0.21 0.38 0.33 0.23 0.37 0.2802 0.2045 0.4358 0.3293 0.2580 0.2353 0.2881 0.3833 0.23 0.22 0.24 0.28 0.31 rs2230622 COSM4142271 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2876 0.2039 0.4144 0.3002 0.3346 0.2566 0.2332 0.2743 0.3823 0.2394 0.1967 0.3616 0.2881 0.3420 0.2524 0.2403 0.2706 het 1698.63 146 1 12164437 . C T 1698.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.825;DP=146;Dels=0.00;FS=6.188;HRun=0;HaplotypeScore=3.3274;MQ=58.90;MQ0=0;MQRankSum=0.216;QD=11.63;ReadPosRankSum=-0.924;VQSLOD=5.1206;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,70:146:99:1729,0,1857 1 12175729 12175729 C T exonic TNFRSF8 nonsynonymous SNV TNFRSF8:NM_001281430:exon7:c.C556T:p.R186C,TNFRSF8:NM_001243:exon8:c.C889T:p.R297C 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 0.9999 1 1 . . . 1. 1. rs1763642 COSM4142272 1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 0.9999 1 1 1 1 1 1 1 1 1 1 hom 5170.96 153 1 12175729 . C T 5170.96 Mask AC=2;AF=1.00;AN=2;DP=153;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8725;MQ=59.55;MQ0=0;QD=33.80;VQSLOD=8.2705;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,153:153:99:5170,418,0 1 12248942 12248942 A G exonic TNFRSF1B synonymous SNV TNFRSF1B:NM_001066:exon2:c.A168G:p.K56K 0.2 0.2 0.13 0.15 0.21 0.27 0.2248 0.2171 0.1198 0.1608 0.2043 0.2454 0.2283 0.2622 0.24 0.22 0.24 0.16 0.17 rs945439 COSM3747514 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2157 0.2183 0.1193 0.2688 0.1564 0.1983 0.2390 0.2171 0.2633 0.2184 0.2139 0.1587 0.2947 0.1646 0.2038 0.2321 0.2194 het 668.69 70 1 12248942 . A G 668.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.256;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.29;MQ0=0;MQRankSum=-0.977;QD=9.55;ReadPosRankSum=0.290;VQSLOD=6.2140;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,27:70:99:699,0,1138 1 12252955 12252955 T G exonic TNFRSF1B nonsynonymous SNV TNFRSF1B:NM_001066:exon6:c.T587G:p.M196R 0.19 0.19 0.13 0.15 0.22 0.28 0.2249 0.2049 0.1171 0.1575 0.2408 0.2447 0.2337 0.2613 0.23 0.21 0.24 0.16 0.21 rs1061622 COSM146406 1(stomach);1(liver) . . . . . . . . . . . 0.255 0.168 T 0.0 0.026 B 0.001 0.040 B 0.217 0.034 N 1 0.090 P 0.3 0.102 N 0.18 0.604 T -0.4 0.138 N 0.068 0.055 -1.075 0.084 T 0.000 0.000 T . . . 0.369 0.130 6.341 0.836 0.143 0.038 0.091 N c -1.150 -1.183 1.000 0.439 0.707 0.730 0 -4.13 0.036 -1.605 0.022 -0.265 0.087 0.000 0.063 0.971 0.463 7.083 0.243 TNFR/NGFR cysteine-rich region . . 0.2167 0.2080 0.1188 0.2692 0.1547 0.2260 0.2379 0.2201 0.2624 0.2194 0.2036 0.1527 0.2947 0.1611 0.2336 0.2333 0.2279 het 804.82 67 1 12252955 . T G 804.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.089;DP=67;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.9779;MQ=58.96;MQ0=0;MQRankSum=0.985;QD=12.01;ReadPosRankSum=-1.307;VQSLOD=6.3332;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,31:67:99:835,0,984 1 12336147 12336147 T C exonic VPS13D synonymous SNV VPS13D:NM_015378:exon19:c.T2502C:p.N834N,VPS13D:NM_018156:exon19:c.T2502C:p.N834N 0.027 0.08 0.014 . 0.0099 0.0082 0.0189 0.0769 0.0089 0 0.0209 0.0170 0.0110 0.0064 0.04 0.079 0.019 0.043 0.0082 rs7546794 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0178 0.0771 0.0096 0.0431 0 0.0170 0.0160 0.0175 0.0061 0.0340 0.0802 0.0072 0.0530 0 0.0215 0.0162 0.0143 het 1068.88 77 1 12336147 . T C 1068.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.775;DP=77;Dels=0.00;FS=7.921;HRun=0;HaplotypeScore=2.8729;MQ=60.00;MQ0=0;MQRankSum=-2.338;QD=13.88;ReadPosRankSum=0.572;VQSLOD=3.3319;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,39:77:99:1099,0,1014 1 12389953 12389953 T C exonic VPS13D synonymous SNV VPS13D:NM_015378:exon37:c.T8265C:p.D2755D,VPS13D:NM_018156:exon37:c.T8265C:p.D2755D 0.022 0.063 0.014 . 0.0099 0.0082 0.0176 0.0643 0.0080 0.0001 0.0209 0.0168 0.0088 0.0064 0.035 0.065 0.019 0.022 0.0082 rs79566132 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0166 0.0625 0.0083 0.0427 0 0.0170 0.0159 0.0162 0.0061 0.0287 0.0617 0.0072 0.0530 0 0.0215 0.0159 0.0153 het 998.86 78 1 12389953 . T C 998.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.877;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.74;MQ0=0;MQRankSum=0.490;QD=12.81;ReadPosRankSum=2.478;VQSLOD=5.1524;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,39:78:99:1029,0,962 1 12401868 12401868 A C exonic VPS13D synonymous SNV VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P 0.8 0.74 0.76 0.9 0.79 0.8 0.7910 0.7549 0.6982 0.9027 0.7486 0.8004 0.7985 0.7992 0.79 0.76 0.8 0.86 0.85 rs28551666 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7873 0.7495 0.7078 0.7749 0.8958 0.7599 0.8023 0.7935 0.8002 0.7863 0.7572 0.7151 0.7517 0.8861 0.7575 0.8033 0.7959 hom 5335.58 173 1 12401868 . A C 5335.58 Mask AC=2;AF=1.00;AN=2;DP=173;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.8633;MQ=59.10;MQ0=0;QD=30.84;VQSLOD=9.3223;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,173:173:99:5335,406,0 1 12638964 12638964 T C exonic DHRS3 synonymous SNV DHRS3:NM_001319225:exon4:c.A225G:p.P75P,DHRS3:NM_001324370:exon4:c.A225G:p.P75P,DHRS3:NM_004753:exon4:c.A480G:p.P160P 0.8 0.8 0.73 0.73 0.85 0.9 0.8314 0.8238 0.6487 0.7254 0.8293 0.8620 0.8314 0.8962 0.85 0.83 0.86 0.77 0.74 rs2275875 COSM5438334 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8213 0.8216 0.6558 0.8430 0.7250 0.8283 0.8620 0.8247 0.8965 0.8345 0.8233 0.7033 0.8377 0.7407 0.8222 0.8612 0.8340 het 549.91 48 1 12638964 . T C 549.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.134;DP=48;Dels=0.00;FS=2.541;HRun=0;HaplotypeScore=2.7312;MQ=59.13;MQ0=0;MQRankSum=0.010;QD=11.46;ReadPosRankSum=0.362;VQSLOD=6.5575;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,22:48:99:580,0,673 1 12776344 12776344 A T exonic AADACL3 unknown UNKNOWN 0.66 0.4 0.85 0.62 0.82 0.74 0.7779 0.4753 0.8512 0.6424 0.8051 0.8290 0.7956 0.7585 0.73 0.51 0.83 0.65 0.8 rs3000859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7834 0.4677 0.8418 0.7726 0.6398 0.8118 0.8332 0.7935 0.7576 0.7158 0.4731 0.8266 0.7980 0.6132 0.8224 0.8309 0.7806 het 1576.11 145 1 12776344 . A T 1576.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.579;DP=145;Dels=0.00;FS=3.052;HRun=1;HaplotypeScore=8.4126;MQ=59.26;MQ0=0;MQRankSum=-0.398;QD=10.87;ReadPosRankSum=0.194;VQSLOD=3.7045;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,62:145:99:1606,0,2030 1 12779560 12779560 T C exonic AADACL3 unknown UNKNOWN 0.85 0.92 0.88 0.78 0.83 0.82 0.8328 0.9124 0.8897 0.7770 0.7746 0.8260 0.8333 0.8257 0.86 0.91 0.83 0.94 0.81 rs3010876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8343 0.9130 0.8891 0.8605 0.7728 0.7796 0.8271 0.8296 0.8280 0.8377 0.9116 0.8795 0.8510 0.7608 0.7837 0.8148 0.8084 hom 5433.95 160 1 12779560 . T C 5433.95 Mask AC=2;AF=1.00;AN=2;DP=160;DS;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8606;MQ=59.62;MQ0=0;QD=33.96;VQSLOD=9.9990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5433,427,0 1 12779618 12779618 T C exonic AADACL3 unknown UNKNOWN 0.85 0.92 0.88 0.78 0.83 0.82 0.8317 0.9100 0.8889 0.7768 0.7753 0.8244 0.8333 0.8253 0.86 0.92 0.83 0.94 0.81 rs3010877 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8329 0.9102 0.8878 0.8606 0.7728 0.7799 0.8249 0.8285 0.8276 0.8355 0.9088 0.8747 0.8510 0.7623 0.7841 0.8123 0.8045 hom 4399.39 128 1 12779618 . T C 4399.39 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.35;MQ0=0;QD=34.37;VQSLOD=9.4852;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:4399,343,0 1 12785494 12785494 G T exonic AADACL3 unknown UNKNOWN 0.68 0.48 0.78 0.78 0.73 0.73 0.7182 0.5227 0.8252 0.78 0.6973 0.7210 0.7133 0.7240 0.67 0.52 0.73 0.74 0.7 rs7513079 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7262 0.5198 0.8206 0.7732 0.7759 0.6928 0.7223 0.7103 0.7240 0.6590 0.5124 0.8026 0.7748 0.7674 0.6984 0.7123 0.6694 hom 5416.84 166 1 12785494 . G T 5416.84 Mask AC=2;AF=1.00;AN=2;DP=166;DS;Dels=0.00;FS=0.000;HRun=7;HaplotypeScore=6.4303;MQ=59.37;MQ0=0;QD=32.63;VQSLOD=7.1851;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,166:166:99:5416,433,0 1 12820870 12820870 T C exonic C1orf158 nonsynonymous SNV C1orf158:NM_001330361:exon3:c.T457C:p.F153L,C1orf158:NM_152290:exon4:c.T571C:p.F191L 0.82 0.92 0.85 0.78 0.79 0.76 0.7952 0.9006 0.8652 0.7792 0.7596 0.7789 0.7909 0.7681 0.82 0.89 0.79 0.91 0.72 rs1132185 COSM5424326 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7964 0.9005 0.8621 0.8192 0.7750 0.7654 0.7788 0.7816 0.7663 0.8099 0.8963 0.8413 0.8046 0.7636 0.7722 0.7747 0.7648 hom 3577.14 109 1 12820870 . T C 3577.14 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4394;MQ=59.58;MQ0=0;QD=32.82;VQSLOD=8.8097;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3577,280,0 1 12835868 12835868 T C exonic PRAMEF12 nonsynonymous SNV PRAMEF12:NM_001080830:exon2:c.T470C:p.M157T 0.72 0.57 0.82 0.72 0.8 0.75 0.7739 0.6069 0.8468 0.7309 0.7790 0.7955 0.7764 0.7606 0.74 0.61 0.8 0.74 0.8 rs1812242 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7806 0.6014 0.8420 0.8622 0.7282 0.7731 0.7947 0.7765 0.7612 0.7257 0.5975 0.8067 0.8433 0.7146 0.7682 0.7830 0.7464 hom 5298.88 171 1 12835868 . T C 5298.88 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.29;MQ0=0;QD=30.99;VQSLOD=9.1062;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,171:171:99:5298,433,0 1 12837634 12837634 T A exonic PRAMEF12 synonymous SNV PRAMEF12:NM_001080830:exon3:c.T1344A:p.I448I 0.66 0.37 0.81 0.72 0.8 0.76 0.7635 0.4233 0.8431 0.7331 0.7841 0.8049 0.7759 0.7620 0.68 0.43 0.81 0.63 0.81 rs848578 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7798 0.4188 0.8395 0.8657 0.7372 0.7844 0.8112 0.7802 0.7729 0.6806 0.4193 0.8058 0.8523 0.7204 0.7753 0.7929 0.7361 hom 5850.40 176 1 12837634 . T A 5850.40 Mask AC=2;AF=1.00;AN=2;DP=176;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.9925;MQ=59.50;MQ0=0;QD=33.24;VQSLOD=8.9422;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,175:176:99:5819,469,0 1 12854530 12854530 C G exonic PRAMEF1 nonsynonymous SNV PRAMEF1:NM_023013:exon3:c.C754G:p.Q252E 0.87 0.93 0.89 0.8 0.86 0.84 0.8553 0.9125 0.8941 0.7989 0.8470 0.8538 0.8642 0.8301 0.87 0.91 0.86 0.043 0.84 rs1063776 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8567 0.9110 0.8900 0.9231 0.7990 0.8444 0.8518 0.8544 0.8307 0.8687 0.9118 0.8699 0.9020 0.7932 0.8445 0.8580 0.8423 hom 7697.13 245 1 12854530 . C G 7697.13 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8892;MQ=51.08;MQ0=10;QD=31.42;VQSLOD=3.1488;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,245:245:99:7695,653,0 1 13940864 13940864 C G exonic PDPN 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 0.98 1. 0.99 1. 0.93 0.99 0.9552 0.9929 0.9891 0.9999 0.8669 0.9386 0.9482 0.9872 0.97 0.99 0.95 1. 0.95 rs2486188 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.018 0.275 N 1 0.090 P -1.935 0.002 N 2.71 0.121 T 4.97 0.001 N 0.086 0.089 -0.947 0.415 T 0.000 0.000 T . . . 1.587 0.252 13.78 0.289 0.015 0.019 0.058 N c -0.953 -0.685 0.077 0.158 0.707 0.730 0 5.93 0.959 0.775 0.262 0.136 0.221 0.977 0.347 0.043 0.159 13.370 0.600 . . . 0.9558 0.9936 0.9870 0.9684 0.9999 0.8620 0.9435 0.9513 0.9876 0.9492 0.9932 0.9880 0.9669 1 0.8626 0.9380 0.9134 het 1837.76 192 1 13940864 . C G 1837.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.789;DP=192;Dels=0.00;FS=0.548;HRun=1;HaplotypeScore=8.5136;MQ=58.87;MQ0=0;MQRankSum=-1.087;QD=9.57;ReadPosRankSum=0.805;VQSLOD=3.0545;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,79:192:99:1868,0,2770 1 14109319 14109319 G A exonic PRDM2 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 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.114 0.286 T 0.999 0.764 D 0.879 0.662 P 0.000 0.843 D 1.000 0.810 D 0.975 0.246 L 4.61 0.021 T -1.18 0.309 N 0.145 0.179 -0.640 0.632 T 0.013 0.052 T 0.023 0.458 T 3.503 0.479 23.1 0.997 0.829 0.988 0.864 D c 0.648 0.747 1.0 0.983 0.632 0.406 0 6.07 0.987 9.352 0.965 1.048 0.713 1.000 0.715 1.000 0.888 19.208 0.937 Zinc finger\x2c C2H2 . . . . . . . . . . . . . . . . . . . het 718.95 49 1 14109319 . G A 718.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.737;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.09;MQ0=0;MQRankSum=-0.273;QD=14.67;ReadPosRankSum=0.515;VQSLOD=4.7500;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,28:49:99:749,0,506 1 14143003 14143003 A G exonic PRDM2 nonsynonymous SNV PRDM2:NM_001135610:exon7:c.A593G:p.Q198R 0.82 0.93 0.86 0.71 0.86 0.73 0.8256 0.9304 0.8019 0.7162 0.8166 0.8451 0.8381 0.7571 0.87 0.93 0.84 0.81 0.84 rs1046331 COSM5021264;COSM5021263 1(bone) . . . . . . . . . . . 0.0 0.912 D 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P . . . 0.56 0.546 T -0.75 0.740 N . . -1.038 0.180 T 0.000 0.000 T . . . 0.129 0.106 3.917 0.594 0.061 0.002 0.010 N c -1.464 -1.534 0.016 0.129 0.706 0.609 0 -4.33 0.034 -1.752 0.019 -0.876 0.028 0.000 0.063 0.332 0.243 7.200 0.249 . . . 0.8223 0.9294 0.8103 0.8044 0.7117 0.8157 0.8487 0.8349 0.7570 0.8594 0.9377 0.8067 0.7748 0.6968 0.8144 0.8477 0.8388 hom 3124.46 104 1 14143003 . A G 3124.46 Mask AC=2;AF=1.00;AN=2;DP=104;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.6628;MQ=59.60;MQ0=0;QD=30.04;VQSLOD=8.3682;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:104:99:3157,259,0 1 15438990 15438990 G A exonic KAZN nonsynonymous SNV KAZN:NM_201628:exon14:c.G2116A:p.A706T 0.44 0.26 0.44 0.66 0.4 0.51 0.4799 0.3171 0.6221 0.6988 0.4808 0.4344 0.4778 0.5336 0.36 0.28 0.4 0.49 . rs10803354 COSM3747562;COSM3747563 1(liver);1(large_intestine) . . . . . . . . . . . 0.243 0.175 T 0.001 0.067 B 0.002 0.063 B 0.118 0.191 N 0.985 0.247 P 1.79 0.469 L 2.24 0.179 T -0.19 0.100 N 0.054 0.036 -1.025 0.220 T 0.000 0.000 T . . . 2.285 0.336 18.07 0.987 0.439 0.363 0.253 N c -0.338 -0.162 1.000 0.489 0.516 0.207 1 3.61 0.403 1.583 0.360 1.044 0.665 0.998 0.411 0.181 0.213 6.379 0.206 . . . 0.4534 0.2751 0.5783 0.4397 0.6870 0.4299 0.3942 0.4286 0.5057 0.4055 0.2878 0.5617 0.4555 0.7095 0.4368 0.4194 0.4629 hom 283.61 10 1 15438990 . G A 283.61 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=28.36;VQSLOD=8.3438;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.06:317,27,0 1 15789297 15789297 A C exonic CELA2A synonymous SNV CELA2A:NM_033440:exon4:c.A297C:p.A99A 0.4 0.68 0.32 0.23 0.32 0.34 0.3399 0.6126 0.2717 0.2393 0.2472 0.3276 0.3458 0.3552 0.43 0.61 0.33 0.38 0.29 rs3815787 COSM301916 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3301 0.6150 0.2731 0.4493 0.2393 0.2453 0.3206 0.3527 0.3552 0.3832 0.6122 0.3055 0.4564 0.2287 0.2451 0.3071 0.3074 hom 3991.88 124 1 15789297 . A C 3991.88 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5578;MQ=58.67;MQ0=0;QD=32.19;VQSLOD=8.2689;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3991,322,0 1 15812432 15812432 A G exonic CELA2B nonsynonymous SNV CELA2B:NM_015849:exon6:c.A530G:p.Q177R 0.99 0.98 0.99 1. 1. 1. 0.9982 0.9821 0.9986 0.9995 1 0.9999 0.9989 0.9998 0.99 0.98 1. 1. 1. rs6429745 . . . . . . . . . . . . . 0.379 0.112 T 0.0 0.026 B 0.0 0.013 B 0.305 0.145 N 1 0.090 P -0.14 0.045 N -2.38 0.883 D 1.23 0.010 N 0.01 0.137 -0.971 0.370 T 0.000 0.000 T . . . -0.274 0.070 0.762 0.880 0.171 0.043 0.098 N c -1.503 -1.494 0.012 0.123 0.428 0.059 0 -2.83 0.054 -1.209 0.031 -0.001 0.135 0.000 0.063 0.562 0.282 0.461 0.005 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9984 0.9803 0.9979 1 0.9998 1 0.9999 0.9998 0.9997 0.9947 0.9819 0.9964 1 0.9994 0.9997 1 1 hom 8020.08 250 1 15812432 . A G 8020.08 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4440;MQ=59.48;MQ0=0;QD=32.08;VQSLOD=9.2452;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8019,671,0 1 16056364 16056364 G A exonic PLEKHM2 synonymous SNV PLEKHM2:NM_015164:exon14:c.G2148A:p.T716T 0.31 0.71 0.26 0.044 0.21 0.17 0.2415 0.6578 0.1754 0.0453 0.1694 0.2289 0.2528 0.2222 0.35 0.62 0.23 0.34 . rs3817269 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2305 0.6578 0.1855 0.2655 0.0442 0.1650 0.2262 0.2476 0.2201 0.3334 0.6667 0.2220 0.2483 0.0451 0.1740 0.2232 0.2159 het 1026.99 73 1 16056364 . G A 1026.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.393;DP=73;Dels=0.00;FS=7.940;HRun=0;HaplotypeScore=3.8279;MQ=59.17;MQ0=0;MQRankSum=-0.197;QD=14.07;ReadPosRankSum=0.998;VQSLOD=4.8117;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,38:73:99:1057,0,949 1 16069644 16069644 C T exonic TMEM82 synonymous SNV TMEM82:NM_001013641:exon3:c.C291T:p.L97L 0.19 0.23 0.17 0.034 0.29 0.18 0.2340 0.2198 0.1521 0.0360 0.2170 0.2767 0.2650 0.2389 0.25 0.21 0.28 0.2 0.25 rs11584945 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2273 0.2123 0.1581 0.3221 0.0333 0.1999 0.2746 0.2554 0.2345 0.2311 0.2147 0.1969 0.3377 0.0247 0.2038 0.2688 0.2387 het 430.16 43 1 16069644 . C T 430.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.188;DP=43;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=2.622;QD=10.00;ReadPosRankSum=-1.982;VQSLOD=9.0380;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,18:43:99:460,0,582 1 16096934 16096934 C T exonic FBLIM1 nonsynonymous SNV FBLIM1:NM_001024216:exon4:c.C281T:p.S94F,FBLIM1:NM_001024215:exon5:c.C572T:p.S191F,FBLIM1:NM_017556:exon6:c.C572T:p.S191F,FBLIM1:NM_001350151:exon7:c.C572T:p.S191F 0.64 0.38 0.69 0.83 0.65 0.76 0.6816 0.4195 0.7554 0.8033 0.6219 0.6895 0.6493 0.7246 0.62 0.43 0.71 0.6 0.63 rs10927851 COSM3750523;COSM3750522 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.766 0.386 T 0.996 0.689 D 0.916 0.634 D 0.059 0.223 N 0.146 0.391 P 0.875 0.216 L 0.93 0.441 T -2.34 0.672 N 0.332 0.396 -1.081 0.071 T 0.000 0.000 T . . . 6.698 0.916 32 0.998 0.858 0.981 0.797 D c 0.398 0.444 1.000 0.747 0.672 0.522 0 5.24 0.728 3.730 0.545 0.888 0.391 1.000 0.715 0.996 0.625 14.607 0.679 Zinc finger\x2c LIM-type . . 0.6883 0.4162 0.7576 0.5612 0.8049 0.6245 0.7003 0.6723 0.7282 0.6206 0.4192 0.7271 0.5728 0.8149 0.6380 0.7049 0.6660 het 1781.97 149 1 16096934 . C T 1781.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.439;DP=149;Dels=0.00;FS=2.145;HRun=1;HaplotypeScore=2.2859;MQ=59.19;MQ0=1;MQRankSum=2.490;QD=11.96;ReadPosRankSum=-0.693;VQSLOD=5.0239;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:77,72:149:99:1812,0,1899 1 16101217 16101217 C T exonic FBLIM1 synonymous SNV FBLIM1:NM_001024216:exon5:c.C525T:p.C175C,FBLIM1:NM_001024215:exon6:c.C816T:p.C272C,FBLIM1:NM_017556:exon7:c.C816T:p.C272C,FBLIM1:NM_001350151:exon8:c.C816T:p.C272C 0.055 0.045 0.085 . 0.12 0.035 0.0760 0.0499 0.0516 0.0010 0.0838 0.1025 0.0784 0.0388 0.078 0.051 0.092 0.076 0.098 rs41268337 COSM3750524;COSM3750525 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0752 0.0448 0.0555 0.1242 0.0009 0.0814 0.1008 0.0866 0.0387 0.0684 0.0468 0.0656 0.1523 0.0012 0.0799 0.0835 0.0777 het 2185.09 208 1 16101217 . C T 2185.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.406;DP=208;Dels=0.00;FS=5.912;HRun=0;HaplotypeScore=0.9867;MQ=58.75;MQ0=0;MQRankSum=1.924;QD=10.51;ReadPosRankSum=-0.775;VQSLOD=4.1337;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,86:208:99:2215,0,3196 1 16256007 16256007 T C exonic SPEN nonsynonymous SNV SPEN:NM_015001:exon11:c.T3272C:p.L1091P 0.65 0.98 0.71 0.32 0.56 0.59 0.6154 0.9195 0.7683 0.3288 0.6043 0.5770 0.6018 0.6278 0.69 0.91 0.58 0.59 0.41 rs848209 COSM4142934 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.846 0.028 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.090 P -0.895 0.014 N 3.2 0.073 T 0.6 0.025 N 0.012 0.012 -1.030 0.206 T 0.000 0.000 T . . . -0.797 0.040 0.043 0.776 0.115 0.020 0.059 N c -1.030 -0.892 0.097 0.163 0.707 0.730 0 3.51 0.391 1.064 0.300 -0.302 0.080 0.124 0.230 0.197 0.217 11.158 0.475 . ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7 Artery_Aorta|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid 0.6159 0.9253 0.7545 0.6131 0.3282 0.6082 0.5749 0.6194 0.6276 0.6713 0.9243 0.7584 0.61 0.2983 0.6105 0.5802 0.5867 het 634.25 58 1 16256007 . T C 634.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.041;DP=58;Dels=0.00;FS=2.243;HRun=1;HaplotypeScore=0.9916;MQ=59.36;MQ0=0;MQRankSum=0.122;QD=10.94;ReadPosRankSum=-0.155;VQSLOD=6.8665;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,24:58:99:664,0,899 1 16259813 16259813 A G exonic SPEN nonsynonymous SNV SPEN:NM_015001:exon11:c.A7078G:p.N2360D 0.65 0.98 0.71 0.32 0.56 0.59 0.6146 0.9193 0.7674 0.3278 0.6050 0.5760 0.6020 0.6270 0.69 0.91 0.58 0.61 0.69 rs848210 COSM4142938 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.853 0.027 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.625 0.021 N 3.13 0.080 T 0.77 0.020 N 0.001 0.000 -1.042 0.168 T 0.000 0.000 T . . . -1.105 0.028 0.010 0.538 0.049 0.094 0.150 N c -1.237 -1.093 0.230 0.184 0.707 0.730 0 3.1 0.346 3.586 0.534 0.076 0.183 0.665 0.281 0.006 0.095 7.596 0.271 . ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000186510.7 Artery_Aorta|Brain_Cortex|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Muscle_Skeletal|Nerve_Tibial|Thyroid|Thyroid 0.6160 0.9254 0.7544 0.6132 0.3282 0.6086 0.5750 0.6205 0.6272 0.6706 0.9239 0.7590 0.6033 0.2976 0.6101 0.5793 0.5866 het 1229.48 110 1 16259813 . A G 1229.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.635;DP=110;Dels=0.00;FS=9.439;HRun=0;HaplotypeScore=2.9912;MQ=59.24;MQ0=0;MQRankSum=-1.058;QD=11.18;ReadPosRankSum=0.641;VQSLOD=4.3830;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,47:110:99:1259,0,1766 1 16260606 16260606 G A exonic SPEN nonsynonymous SNV SPEN:NM_015001:exon11:c.G7871A:p.R2624Q . . . . . . 0.0003 0 0 0 0 0.0004 0.0022 6.104e-05 0.0002 . 0.0003 . . rs200512596 COSM4024565 1(stomach) . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 0.994 0.807 D . . . 1.000 0.530 D 1.79 0.469 L 2.35 0.162 T -1.31 0.328 N 0.615 0.637 -1.094 0.048 T 0.110 0.397 T 0.017 0.392 T 6.762 0.922 32 0.999 0.940 0.982 0.803 D c 0.697 0.689 1.000 0.747 0.707 0.730 0 5.24 0.728 7.464 0.798 1.048 0.713 1.000 0.715 0.990 0.544 18.818 0.920 . . . 0.0002 0 0 0 0 4.489e-05 0.0004 0 3.257e-05 0.0003 0.0001 0 0 0 0.0003 0.0004 0 het 2893.81 190 1 16260606 . G A 2893.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.310;DP=190;Dels=0.00;FS=0.541;HRun=0;HaplotypeScore=4.9852;MQ=59.09;MQ0=0;MQRankSum=0.131;QD=15.23;ReadPosRankSum=-1.425;VQSLOD=3.5290;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,106:190:99:2924,0,1998 1 16272250 16272250 A G exonic ZBTB17 synonymous SNV ZBTB17:NM_001242884:exon5:c.T375C:p.A125A,ZBTB17:NM_001324137:exon5:c.T393C:p.A131A,ZBTB17:NM_001324138:exon5:c.T432C:p.A144A,ZBTB17:NM_001287603:exon6:c.T621C:p.A207A,ZBTB17:NM_001287604:exon6:c.T393C:p.A131A,ZBTB17:NM_003443:exon6:c.T621C:p.A207A 0.48 0.47 0.63 0.32 0.5 0.54 0.5232 0.4727 0.7181 0.3291 0.5210 0.5075 0.5150 0.5811 0.48 0.46 0.49 0.45 0.52 rs848217 COSM5425001;COSM3930473;COSM1747901;COSM1747902 1(haematopoietic_and_lymphoid_tissue);7(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5310 0.4693 0.7009 0.5844 0.3299 0.5266 0.5005 0.5325 0.5819 0.4920 0.4741 0.6909 0.5728 0.2996 0.5382 0.4991 0.4990 het 664.96 70 1 16272250 . A G 664.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.329;DP=70;Dels=0.00;FS=4.946;HRun=1;HaplotypeScore=3.4691;MQ=59.34;MQ0=0;MQRankSum=0.837;QD=9.50;ReadPosRankSum=0.902;VQSLOD=4.9315;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,28:70:99:695,0,1005 1 16342237 16342237 A G exonic HSPB7 synonymous SNV HSPB7:NM_001349683:exon3:c.T363C:p.T121T,HSPB7:NM_001349685:exon3:c.T333C:p.T111T,HSPB7:NM_001349687:exon3:c.T336C:p.T112T,HSPB7:NM_001349688:exon3:c.T348C:p.T116T,HSPB7:NM_001349689:exon3:c.T366C:p.T122T,HSPB7:NM_014424:exon3:c.T351C:p.T117T,HSPB7:NM_001349682:exon4:c.T576C:p.T192T 0.65 0.72 0.46 0.76 0.59 0.64 0.5938 0.7044 0.3760 0.7423 0.5752 0.5930 0.6024 0.6121 0.62 0.7 0.59 0.69 0.44 rs1739840 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5787 0.7045 0.3917 0.5170 0.7526 0.5691 0.5939 0.5721 0.5933 0.6276 0.7075 0.4200 0.5563 0.7932 0.5562 0.5932 0.6227 het 1482.14 103 1 16342237 . A G 1482.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.792;DP=103;Dels=0.00;FS=1.747;HRun=1;HaplotypeScore=2.7040;MQ=59.40;MQ0=0;MQRankSum=1.679;QD=14.39;ReadPosRankSum=-0.433;VQSLOD=5.9636;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:45,58:103:99:1512,0,1295 1 16344360 16344360 A G exonic HSPB7 synonymous SNV HSPB7:NM_001349683:exon1:c.T99C:p.A33A,HSPB7:NM_001349685:exon1:c.T99C:p.A33A,HSPB7:NM_001349686:exon1:c.T99C:p.A33A,HSPB7:NM_001349687:exon1:c.T99C:p.A33A,HSPB7:NM_001349688:exon1:c.T99C:p.A33A,HSPB7:NM_001349689:exon1:c.T99C:p.A33A,HSPB7:NM_014424:exon1:c.T99C:p.A33A 0.65 0.71 0.46 0.76 0.59 0.64 0.5893 0.6905 0.3768 0.7401 0.5837 0.5903 0.5979 0.5926 0.62 0.68 0.59 0.65 0.34 rs732286 COSM5428072;COSM5428071 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5750 0.6889 0.3910 0.5108 0.7515 0.5669 0.5915 0.5694 0.5897 0.6239 0.6927 0.4189 0.5563 0.7920 0.5565 0.5944 0.6214 het 658.06 37 1 16344360 . A G 658.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.799;DP=37;Dels=0.00;FS=3.278;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.830;QD=17.79;ReadPosRankSum=-0.423;VQSLOD=5.1023;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,23:37:99:688,0,318 1 16344402 16344402 G A exonic HSPB7 synonymous SNV HSPB7:NM_001349683:exon1:c.C57T:p.S19S,HSPB7:NM_001349685:exon1:c.C57T:p.S19S,HSPB7:NM_001349686:exon1:c.C57T:p.S19S,HSPB7:NM_001349687:exon1:c.C57T:p.S19S,HSPB7:NM_001349688:exon1:c.C57T:p.S19S,HSPB7:NM_001349689:exon1:c.C57T:p.S19S,HSPB7:NM_014424:exon1:c.C57T:p.S19S 0.65 0.71 0.46 0.76 0.59 0.64 0.5885 0.6896 0.3758 0.7420 0.5779 0.5900 0.5978 0.5908 0.62 0.68 0.58 0.67 . rs945416 COSM5483361;COSM4142947 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5750 0.6884 0.3910 0.5107 0.7512 0.5672 0.5913 0.5693 0.5897 0.6228 0.6911 0.4187 0.5567 0.7907 0.5559 0.5933 0.6235 het 783.48 54 1 16344402 . G A 783.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.805;DP=54;Dels=0.00;FS=5.672;HRun=1;HaplotypeScore=2.7256;MQ=58.37;MQ0=0;MQRankSum=0.035;QD=14.51;ReadPosRankSum=0.647;VQSLOD=5.0704;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:23,31:54:99:813,0,579 1 16351275 16351275 A G exonic CLCNKA nonsynonymous SNV CLCNKA:NM_001042704:exon4:c.A247G:p.R83G,CLCNKA:NM_004070:exon4:c.A247G:p.R83G 0.64 0.72 0.45 0.77 0.56 0.63 0.5636 0.7042 0.3644 0.7458 0.5317 0.5580 0.5642 0.5549 0.6 0.7 0.55 0.67 0.48 rs10927887 COSM1737823 1(liver);2(central_nervous_system) . . . . . . . . . . . 0.389 0.109 T 0.0 0.026 B 0.0 0.013 B 0.728 0.099 N 1.000 0.242 P 1.385 0.346 L -3.05 0.924 D -0.17 0.096 N 0.056 0.039 -0.919 0.457 T 0.000 0.000 T . . . 0.117 0.105 3.790 0.886 0.175 0.204 0.208 N c -0.925 -0.843 0.014 0.126 0.549 0.223 0 0.872 0.182 0.107 0.151 -1.287 0.014 0.003 0.159 0.826 0.345 7.321 0.255 Chloride channel\x2c core ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000184908.13|ENSG00000173641.13|ENSG00000186510.7 Adipose_Subcutaneous|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Thyroid|Thyroid 0.5497 0.7056 0.3784 0.4636 0.7568 0.5231 0.5600 0.5427 0.5534 0.6030 0.7043 0.3986 0.4967 0.7954 0.5143 0.5592 0.5746 het 1422.42 109 1 16351275 . A G 1422.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.134;DP=109;Dels=0.00;FS=2.660;HRun=3;HaplotypeScore=0.0000;MQ=58.50;MQ0=0;MQRankSum=-0.343;QD=13.05;ReadPosRankSum=0.725;VQSLOD=4.8723;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,57:109:99:1452,0,1447 1 16356501 16356501 G A exonic CLCNKA 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 0.65 0.75 0.45 0.77 0.56 0.63 0.5612 0.7221 0.3629 0.7457 0.5284 0.5529 0.5601 0.5492 0.6 0.71 0.54 0.72 0.42 rs1805152 COSM3747578 2(liver);2(thyroid) . . . . . . . . . . . 0.122 0.276 T 0.006 0.126 B 0.005 0.127 B 0.019 0.272 N 0.984 0.248 P 1.55 0.394 L -3.11 0.927 D -0.1 0.096 N 0.012 0.040 -0.938 0.429 T 0.000 0.000 T . . . 0.469 0.139 7.191 0.852 0.152 0.057 0.115 N c -1.332 -1.345 0.001 0.076 0.554 0.283 0 0.33 0.151 -0.320 0.080 -1.817 0.006 0.000 0.063 0.000 0.016 5.676 0.169 Chloride channel\x2c core ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000173641.13|ENSG00000184908.13|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000186510.7|ENSG00000184908.13|ENSG00000173641.13|ENSG00000186510.7 Adipose_Subcutaneous|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Thyroid|Thyroid 0.5465 0.7225 0.3763 0.4502 0.7560 0.5206 0.5549 0.5383 0.5482 0.6045 0.7211 0.3962 0.4698 0.7932 0.5115 0.5541 0.5755 het 736.47 103 1 16356501 . G A 736.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.363;DP=103;Dels=0.00;FS=1.785;HRun=0;HaplotypeScore=3.4265;MQ=59.09;MQ0=0;MQRankSum=1.122;QD=7.15;ReadPosRankSum=-1.400;VQSLOD=5.3143;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,33:103:99:766,0,1707 1 16371067 16371067 G T exonic CLCNKB nonsynonymous SNV CLCNKB:NM_000085:exon2:c.G80T:p.R27L 0.56 0.25 0.69 0.65 0.66 0.66 0.6413 0.3297 0.7585 0.6597 0.5866 0.6565 0.6387 0.6965 0.53 0.3 0.64 0.52 0.49 rs2015352 COSM3750546 1(large_intestine) . . . . . . . . . . . 0.025 0.473 D 0.468 0.346 P 0.162 0.332 B 0.094 0.202 N 0.882 0.280 P 2.745 0.805 M -1.92 0.848 D -3.05 0.629 D 0.16 0.192 -0.903 0.477 T 0.000 0.000 T . . . 4.307 0.577 24.0 0.995 0.698 0.137 0.178 N c -0.286 -0.299 0.002 0.094 0.497 0.185 0 3.16 0.353 0.008 0.130 0.926 0.436 0.000 0.063 0.983 0.502 6.147 0.194 . . . 0.6271 0.2847 0.7316 0.6828 0.6346 0.5516 0.6333 0.6228 0.6876 0.5347 0.2923 0.7146 0.6788 0.6464 0.5570 0.6378 0.6445 hom 232.48 10 1 16371067 . G T 232.48 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=23.25;VQSLOD=11.9894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:21.05:265,21,0 1 16373124 16373124 A G exonic CLCNKB synonymous SNV CLCNKB:NM_000085:exon4:c.A324G:p.S108S 0.74 0.31 0.85 0.99 0.83 0.89 0.8022 0.3879 0.9074 0.9898 0.7626 0.8104 0.8002 0.8742 0.67 0.4 0.81 0.7 0.7 rs5257 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8123 0.3761 0.9003 0.8342 0.9891 0.7625 0.8095 0.8088 0.8739 0.6923 0.3788 0.8675 0.8212 0.9864 0.7649 0.8061 0.8039 hom 3507.58 114 1 16373124 . A G 3507.58 Mask AC=2;AF=1.00;AN=2;DP=114;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.23;MQ0=0;QD=30.77;VQSLOD=8.4599;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,114:114:99:3507,289,0 1 16374533 16374533 G C exonic CLCNKB synonymous SNV CLCNKB:NM_000085:exon5:c.G492C:p.G164G 0.89 0.72 0.93 1. 0.94 0.94 0.9298 0.7633 0.9605 0.9997 0.9258 0.9424 0.9292 0.9277 0.88 0.77 0.94 0.86 0.86 rs2014562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9317 0.7566 0.9581 0.8928 0.9997 0.9235 0.9438 0.9251 0.9276 0.8936 0.7582 0.9475 0.8808 1 0.9189 0.9492 0.9376 hom 1992.80 59 1 16374533 . G C 1992.80 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5215;MQ=58.10;MQ0=0;QD=33.78;VQSLOD=7.8309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:2026,159,0 1 16376319 16376319 T C exonic CLCNKB synonymous SNV CLCNKB:NM_001165945:exon3:c.T369C:p.C123C,CLCNKB:NM_000085:exon10:c.T876C:p.C292C 0.83 0.49 0.91 1. 0.94 0.94 0.9114 0.5638 0.9532 0.9998 0.9262 0.9414 0.9218 0.9267 0.82 0.58 0.94 0.79 0.81 rs7368151 COSM4142955;COSM4142954 1(thyroid) Benign not_specified RCV000427070.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9173 0.5553 0.9490 0.8919 0.9998 0.9234 0.9431 0.9155 0.9268 0.8369 0.5588 0.9296 0.8833 1 0.9189 0.9490 0.9252 hom 8071.32 247 1 16376319 . T C 8071.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.376;DP=247;DS;Dels=0.00;FS=5.105;HRun=0;HaplotypeScore=4.5311;MQ=55.03;MQ0=0;MQRankSum=1.943;QD=32.68;ReadPosRankSum=-0.363;VQSLOD=3.4175;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,245:247:99:8033,610,0 1 16380196 16380196 T C exonic CLCNKB nonsynonymous SNV CLCNKB:NM_001165945:exon9:c.T1178C:p.M393T,CLCNKB:NM_000085:exon16:c.T1685C:p.M562T 0.84 0.65 0.92 0.84 0.97 0.91 0.9310 0.6908 0.9539 0.8081 0.9356 0.9802 0.9302 0.9302 0.89 0.7 0.98 0.84 0.97 rs5253 . . . . . . . . . . . . . 0.872 0.032 T 0.0 0.026 B 0.003 0.080 B 0.986 0.081 N 1 0.090 P -0.935 0.013 N -3.01 0.922 D 0.22 0.047 N 0.008 0.198 -0.983 0.344 T 0.000 0.000 T . . . -1.784 0.011 0.002 0.534 0.048 0.002 0.014 N c -1.919 -1.856 0.088 0.160 0.615 0.372 0 -3.73 0.041 -1.338 0.027 -2.268 0.003 0.000 0.063 0.299 0.237 7.111 0.244 CBS domain . . 0.9354 0.6839 0.9477 0.9514 0.8066 0.9378 0.9843 0.9515 0.9315 0.8837 0.6920 0.9414 0.9735 0.8230 0.9393 0.9803 0.9358 hom 4340.35 158 1 16380196 . T C 4340.35 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.707;DP=158;Dels=0.00;FS=3.163;HRun=0;HaplotypeScore=2.4703;MQ=51.79;MQ0=6;MQRankSum=0.091;QD=27.47;ReadPosRankSum=0.684;VQSLOD=3.0190;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,157:158:99:4307,331,0 1 16388646 16388646 T C exonic FAM131C synonymous SNV FAM131C:NM_182623:exon4:c.A216G:p.R72R 0.82 0.72 0.86 0.83 0.87 0.85 0.8516 0.7235 0.9126 0.8321 0.7969 0.8664 0.8180 0.8579 0.82 0.72 0.87 0.5 0.77 rs2863456 COSM3930479 1(urinary_tract);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8546 0.7251 0.9051 0.8854 0.8334 0.7986 0.8666 0.8579 0.8610 0.8132 0.7281 0.8902 0.89 0.8383 0.8110 0.8535 0.8224 hom 1731.62 63 1 16388646 . T C 1731.62 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.540;DP=63;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9992;MQ=44.52;MQ0=2;MQRankSum=0.596;QD=27.49;ReadPosRankSum=0.994;VQSLOD=2.6219;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:1,62:63:99:1765,117,0 1 16451767 16451767 G A exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon16:c.C2712T:p.I904I,EPHA2:NM_004431:exon17:c.C2874T:p.I958I 0.24 0.11 0.31 0.15 0.32 0.35 0.2751 0.1305 0.3441 0.1479 0.2591 0.2811 0.2926 0.3645 0.23 0.12 0.28 0.16 0.29 rs3754334 COSM4142961 2(thyroid) Benign|Benign not_specified|Age-related_cortical_cataract RCV000244865.1|RCV000304354.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2787 0.1263 0.3420 0.2842 0.1464 0.2620 0.2805 0.2968 0.3595 0.2237 0.1269 0.3337 0.2848 0.1429 0.2669 0.2687 0.2649 het 451.89 42 1 16451767 . G A 451.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.858;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=0.390;QD=10.76;ReadPosRankSum=-1.347;VQSLOD=6.2693;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,20:42:99:482,0,575 1 16464653 16464653 G C exonic EPHA2 nonsynonymous SNV EPHA2:NM_001329090:exon4:c.C845G:p.T282R,EPHA2:NM_004431:exon5:c.C1007G:p.T336R . . . . . . 0.0001 0 0 0 0 0.0002 0 0 0.0003 . 0.0005 . . rs146085387 . . . . . . . . . . . . . 0.002 0.721 D 0.938 0.506 P 0.589 0.486 P 0.010 0.302 N 1.000 0.537 D 1.4 0.355 L 0.39 0.574 T -2.7 0.576 D 0.708 0.710 -0.766 0.571 T 0.175 0.519 T 0.075 0.722 D 5.134 0.692 25.4 0.991 0.522 0.651 0.323 D c 0.136 0.153 1.000 0.747 0.722 0.854 0 4.97 0.653 0.655 0.244 1.048 0.713 0.026 0.200 0.978 0.483 16.109 0.810 Fibronectin type III|Immunoglobulin-like fold . . 0.0001 0 0 0 0 5.299e-05 0.0003 0 0 0.0001 0 0 0 0 0.0003 0.0002 0 het 916.39 60 1 16464653 . G C 916.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.252;DP=60;Dels=0.00;FS=3.607;HRun=0;HaplotypeScore=4.8923;MQ=57.96;MQ0=0;MQRankSum=0.160;QD=15.27;ReadPosRankSum=1.443;VQSLOD=2.7532;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,33:60:99:946,0,688 1 16464673 16464673 G A exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon4:c.C825T:p.P275P,EPHA2:NM_004431:exon5:c.C987T:p.P329P 0.35 0.34 0.43 0.15 0.42 0.44 0.3787 0.3621 0.3510 0.1218 0.3417 0.4022 0.3855 0.4607 0.39 0.36 0.4 0.33 0.44 rs2230597 COSM3749009 1(breast);4(large_intestine) Benign|Benign not_specified|Age-related_cortical_cataract RCV000247172.1|RCV000281939.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3775 0.3497 0.3589 0.4487 0.1249 0.3438 0.4019 0.4061 0.4583 0.3666 0.3567 0.3753 0.4669 0.1239 0.3430 0.3990 0.4059 het 784.84 48 1 16464673 . G A 784.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.031;DP=48;Dels=0.00;FS=4.180;HRun=1;HaplotypeScore=1.7781;MQ=59.52;MQ0=0;MQRankSum=0.652;QD=16.35;ReadPosRankSum=0.238;VQSLOD=6.2009;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,26:48:99:815,0,625 1 16475123 16475123 C T exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon2:c.G411A:p.L137L,EPHA2:NM_004431:exon3:c.G573A:p.L191L 0.23 0.15 0.37 0.031 0.36 0.3 0.2900 0.1663 0.3174 0.0176 0.2533 0.3320 0.2993 0.3365 0.28 0.17 0.35 0.26 0.33 rs6678616 . . Benign|Benign not_specified|Age-related_cortical_cataract RCV000253199.1|RCV000309096.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2989 0.1615 0.3307 0.3980 0.0174 0.2776 0.3343 0.3326 0.3368 0.2598 0.1617 0.3233 0.4371 0.0179 0.2786 0.3281 0.3180 het 895.47 107 1 16475123 . C T 895.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.183;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=60.00;MQ0=0;MQRankSum=0.494;QD=8.37;ReadPosRankSum=0.202;VQSLOD=5.2062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,40:107:99:925,0,1833 1 16475126 16475126 C T exonic EPHA2 synonymous SNV EPHA2:NM_001329090:exon2:c.G408A:p.A136A,EPHA2:NM_004431:exon3:c.G570A:p.A190A 0.23 0.15 0.37 0.031 0.36 0.3 0.2900 0.1667 0.3175 0.0176 0.2535 0.3320 0.2993 0.3365 0.28 0.17 0.35 0.26 0.36 rs6678618 COSM1178394 1(prostate) Benign|Benign not_specified|Age-related_cortical_cataract RCV000249831.1|RCV000363768.1 MedGen|Human_Phenotype_Ontology:MedGen CN169374|HP:0011143:C2880562 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2988 0.1616 0.3307 0.3981 0.0174 0.2765 0.3342 0.3329 0.3369 0.2598 0.1612 0.3241 0.4371 0.0179 0.2788 0.3282 0.3186 het 943.78 104 1 16475126 . C T 943.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.223;DP=104;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5810;MQ=59.78;MQ0=0;MQRankSum=0.286;QD=9.07;ReadPosRankSum=-0.529;VQSLOD=6.3645;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,41:104:99:974,0,1559 1 16532498 16532498 G A exonic ARHGEF19 nonsynonymous SNV ARHGEF19:NM_153213:exon8:c.C1379T:p.P460L 0.036 0.0038 0.062 . 0.1 0.032 0.1135 0.0302 0.0876 0.0002 0.1285 0.1623 0.1270 0.0413 0.087 0.023 0.12 . 0.082 rs41269185 COSM4999250;COSM4999249 1(pancreas) . . . . . . . . . . . 0.008 0.586 D 0.999 0.764 D 0.983 0.742 D 0.000 0.513 D 0.000 0.588 P 1.925 0.515 L 1.45 0.325 T -9.03 0.983 D 0.298 0.358 -1.030 0.205 T 0.005 0.017 T . . . 6.683 0.915 32 0.997 0.819 0.934 0.577 D c 0.380 0.439 1.000 0.747 0.609 0.349 0 4.66 0.577 5.008 0.635 1.048 0.713 1.000 0.715 0.968 0.456 15.048 0.714 Dbl homology (DH) domain ENSG00000142632.12|ENSG00000237276.4|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000237276.4|ENSG00000142632.12|ENSG00000237276.4|ENSG00000142632.12|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Hippocampus|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Stomach|Testis|Whole_Blood|Whole_Blood|Whole_Blood 0.0809 0.0204 0.0559 0.1262 6.075e-05 0.0716 0.1208 0.0951 0.0307 0.0735 0.0218 0.0646 0.1490 0 0.0722 0.1110 0.0723 het 396.58 35 1 16532498 . G A 396.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.432;DP=35;Dels=0.00;FS=1.281;HRun=0;HaplotypeScore=1.5592;MQ=58.93;MQ0=0;MQRankSum=2.363;QD=11.33;ReadPosRankSum=-2.053;VQSLOD=4.9272;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:427,0,450 1 16534646 16534646 C G exonic ARHGEF19 nonsynonymous SNV ARHGEF19:NM_153213:exon3:c.G487C:p.G163R 0.24 0.086 0.39 0.15 0.27 0.42 0.2700 0.1023 0.4630 0.1269 0.1736 0.2584 0.2428 0.3996 0.21 0.1 0.26 0.3 0.25 rs221058 COSM1335927 1(thyroid) . . . . . . . . . . . 0.069 0.355 T 0.014 0.156 B 0.011 0.145 B 0.615 0.057 N 0.998 0.222 P 0.975 0.246 L 0.76 0.499 T -2.16 0.488 N 0.087 0.083 -0.995 0.312 T 0.000 0.000 T . . . 2.399 0.350 18.81 0.988 0.457 0.186 0.201 N c -0.669 -0.606 1.000 0.747 0.646 0.442 0 2.13 0.263 0.184 0.166 0.848 0.348 0.001 0.137 0.674 0.303 6.672 0.221 . ENSG00000142632.12|ENSG00000132881.7|ENSG00000142632.12|ENSG00000204377.3|ENSG00000132881.7|ENSG00000132881.7|ENSG00000132881.7|ENSG00000142632.12|ENSG00000142632.12|ENSG00000132881.7|ENSG00000142632.12|ENSG00000132881.7|ENSG00000234166.1|ENSG00000142627.9|ENSG00000234166.1|ENSG00000142632.12|ENSG00000234166.1|ENSG00000184908.13|ENSG00000132881.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.2776 0.0968 0.4515 0.2914 0.1261 0.1815 0.2573 0.2914 0.3990 0.1994 0.0968 0.4199 0.2933 0.1187 0.1956 0.2502 0.2673 het 1174.13 81 1 16534646 . C G 1174.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.781;DP=81;Dels=0.00;FS=0.850;HRun=0;HaplotypeScore=0.9973;MQ=59.72;MQ0=0;MQRankSum=0.882;QD=14.50;ReadPosRankSum=-0.262;VQSLOD=6.6528;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,46:81:99:1204,0,890 1 16577908 16577908 G C exonic FBXO42 nonsynonymous SNV FBXO42:NM_018994:exon10:c.C1411G:p.P471A 0.27 0.43 0.21 0.17 0.33 0.13 0.3035 0.4361 0.1663 0.1889 0.3377 0.3558 0.2919 0.1532 0.38 0.42 0.36 0.37 0.37 rs12069239 COSM3747581 1(liver) . . . . . . . . . . . 0.885 0.030 T 0.0 0.026 B 0.0 0.013 B 0.323 0.142 N 1.000 0.198 P 0 0.065 N 3.68 0.394 T 0.08 0.060 N 0.01 0.100 -0.919 0.456 T 0.000 0.000 T . . . -1.071 0.029 0.011 0.457 0.036 0.046 0.102 N c -0.995 -0.856 0.713 0.228 0.707 0.730 0 0.736 0.174 0.318 0.191 -1.646 0.008 0.073 0.219 0.941 0.415 1.564 0.024 . ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000037637.6|ENSG00000142632.12|ENSG00000142632.12|ENSG00000234166.1|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000142632.12|ENSG00000237276.4|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000142632.12|ENSG00000237276.4|ENSG00000234166.1|ENSG00000237276.4|ENSG00000142632.12|ENSG00000037637.6|ENSG00000204377.3|ENSG00000142632.12|ENSG00000237276.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cortex|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2971 0.4341 0.1745 0.2938 0.1848 0.3376 0.3637 0.3064 0.1539 0.3632 0.4307 0.2249 0.2947 0.1805 0.3342 0.3638 0.2959 het 731.58 69 1 16577908 . G C 731.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.596;DP=69;Dels=0.00;FS=2.191;HRun=0;HaplotypeScore=5.5690;MQ=59.67;MQ0=0;MQRankSum=0.486;QD=10.60;ReadPosRankSum=-1.727;VQSLOD=4.2012;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,27:69:99:762,0,1168 1 16641899 16641899 C T exonic FBXO42 synonymous SNV FBXO42:NM_018994:exon2:c.G15A:p.S5S 0.36 0.047 0.34 0.68 0.42 0.39 0.3970 0.1106 0.3606 0.6819 0.5105 0.4000 0.4404 0.3936 0.3 0.12 0.4 0.27 0.29 rs2273311 COSM5427407 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4031 0.1039 0.3641 0.3605 0.6867 0.5111 0.3979 0.3851 0.3927 0.3434 0.1044 0.3270 0.3344 0.6952 0.5003 0.4039 0.4255 het 1389.45 99 1 16641899 . C T 1389.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.870;DP=99;Dels=0.00;FS=1.625;HRun=0;HaplotypeScore=2.8276;MQ=59.24;MQ0=0;MQRankSum=-0.447;QD=14.03;ReadPosRankSum=0.877;VQSLOD=6.4193;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,55:99:99:1419,0,1046 1 16727305 16727305 - CTT exonic SPATA21 nonframeshift insertion SPATA21:NM_198546:exon11:c.1083_1084insAAG:p.K361_L362insK 0.099 0.22 0.084 0.001 0.11 0.034 0.1018 0.2226 0.0594 0.0005 0.0712 0.1232 0.0947 0.0350 0.16 0.21 0.13 . . rs80260069 COSM327968;COSM5713024 1(pancreas);2(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0978 0.2207 0.0663 0.1277 0.0004 0.0734 0.1250 0.1074 0.0332 0.1290 0.2127 0.0704 0.1490 0 0.0736 0.1131 0.0835 het 5046.08 233 1 16727305 . G GCTT 5046.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.829;DP=233;DS;FS=2.399;HRun=0;HaplotypeScore=753.4762;MQ=57.34;MQ0=0;MQRankSum=-1.048;QD=21.56;ReadPosRankSum=1.287;set=variant2 GT:AD:DP:GQ:PL 0/1:147,85:233:99:5046,0,5067 1 16730308 16730308 G T exonic SPATA21 nonsynonymous SNV SPATA21:NM_198546:exon10:c.C915A:p.H305Q 0.051 0.0061 0.068 0.069 0.074 0.059 0.0678 0.0126 0.0604 0.0760 0.0959 0.0758 0.0779 0.0587 0.05 0.015 0.068 0.033 0.082 rs41269193 COSM146418 1(stomach) . . . . . . . . . . . 0.358 0.185 T 0.257 0.297 B 0.074 0.267 B 0.980 0.078 N 1 0.090 N 0.69 0.170 N 1.03 0.626 T -0.91 0.245 N 0.05 0.031 -1.101 0.040 T 0.008 0.029 T . . . 0.263 0.119 5.324 0.870 0.164 0.007 0.031 N c -1.086 -1.098 0.086 0.160 0.428 0.059 0 -4.0 0.038 -0.790 0.047 -1.367 0.012 0.095 0.225 0.597 0.288 8.329 0.312 EF-hand domain|EF-hand domain pair . . 0.0693 0.0116 0.0643 0.0885 0.0747 0.1053 0.0724 0.0788 0.0561 0.0600 0.0114 0.0573 0.0927 0.0717 0.0964 0.0767 0.0809 het 1959.03 162 1 16730308 . G T 1959.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DP=162;Dels=0.00;FS=4.933;HRun=2;HaplotypeScore=8.8221;MQ=59.74;MQ0=0;MQRankSum=0.144;QD=12.09;ReadPosRankSum=-1.068;VQSLOD=3.9562;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,75:162:99:1989,0,2197 1 16736326 16736326 C T exonic SPATA21 synonymous SNV SPATA21:NM_198546:exon6:c.G357A:p.P119P 0.0026 . 0.0072 . 0.008 . 0.0037 0.0011 0.0035 0 0.0010 0.0056 0.0048 0.0002 0.0044 0.0009 0.0062 . . rs146259783 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0007 0.0042 0.0017 0 0.0006 0.0064 0.004 0.0001 0.0036 0.0016 0.0072 0.0033 0 0.0003 0.0057 0.0031 het 271.53 25 1 16736326 . C T 271.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.637;DP=25;Dels=0.00;FS=6.761;HRun=0;HaplotypeScore=2.6492;MQ=59.07;MQ0=0;MQRankSum=0.579;QD=10.86;ReadPosRankSum=-0.463;VQSLOD=3.4440;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:13,11:25:99:302,0,372 1 16892272 16892272 - T exonic NBPF1 unknown UNKNOWN . . . . . . 0.0582 0.0702 0.0424 0.0569 0.1047 0.0584 0.0657 0.0391 . . . . . rs373748839 COSN15651581;COSN20094404;COSN20094406;COSN15651580;COSN20094405;COSN20094403 2(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0280 0.0182 0.0366 0.0340 0.0163 0.0295 0.0279 0.0332 0.0255 0.0024 0.0033 0 0 0.0014 0.0004 0.0031 0 het 697.55 42 1 16892272 . C CT 697.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.528;DP=42;DS;FS=88.834;HRun=1;HaplotypeScore=407.5146;MQ=13.50;MQ0=153;MQRankSum=-5.049;QD=2.85;ReadPosRankSum=-1.171;set=variant2 GT:AD:DP:GQ:PL 0/1:222,23:42:99:737,0,647 1 16892277 16892277 G - exonic NBPF1 unknown UNKNOWN . . . . . . 0.1505 0.1435 0.1584 0.1502 0.2398 0.1426 0.1609 0.1340 0.17 0.17 0.17 . . rs368729374 COSN15648855;COSN15648856;COSN20094407;COSN20094409;COSN20094408;COSN20094410 2(upper_aerodigestive_tract);4(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0787 0.0492 0.0891 0.1382 0.0381 0.0631 0.0889 0.0867 0.0861 0.0903 0.1087 0.0288 0.0488 0.235 0.0149 0.1258 0.0726 het 670.93 42 1 16892276 . TG T 670.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.459;DP=42;DS;FS=95.161;HRun=1;HaplotypeScore=398.5461;MQ=13.46;MQ0=154;MQRankSum=-5.006;QD=2.76;ReadPosRankSum=0.101;set=variant2 GT:AD:DP:GQ:PL 0/1:220,23:42:99:710,0,796 1 17087542 17087546 GTGCT - exonic MST1L frameshift deletion MST1L:NM_001271733:exon2:c.119_123del:p.Q40Pfs*17 . . . . . . 0.4409 0.4598 0.4695 0.4701 0.4653 0.4310 0.4317 0.4238 . . . . . rs56364660 COSM1317622;COSM1317623 3(haematopoietic_and_lymphoid_tissue);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3555 0.4646 0.3883 0.2176 0.4370 0.3943 0.3318 0.3245 0.2905 0.4837 0.4949 0.4904 0.4722 0.4967 0.4916 0.4726 0.4765 het 1171.99 152 1 17087541 . GGTGCT G 1171.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.327;DP=152;DS;FS=35.118;HRun=0;HaplotypeScore=853.6694;MQ=40.47;MQ0=6;MQRankSum=-4.137;QD=5.48;ReadPosRankSum=-3.075;set=variant2 GT:AD:DP:GQ:PL 0/1:142,72:152:99:1211,0,10568 1 17250836 17250836 A G exonic CROCC synonymous SNV CROCC:NM_014675:exon3:c.A213G:p.T71T . . . . . . 0.3367 0.3872 0.3081 0.4356 0.3474 0.3351 0.3485 0.2748 0.34 0.38 0.32 0.34 0.26 rs57174186 COSM424603 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3250 0.3789 0.3037 0.3157 0.4344 0.3249 0.3244 0.3360 0.2641 0.3442 0.3819 0.3195 0.2736 0.4394 0.3120 0.3236 0.3240 het 393.30 55 1 17250836 . A G 393.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.821;DP=55;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.600;QD=7.15;ReadPosRankSum=0.493;VQSLOD=10.2539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:35,20:55:99:423,0,957 1 17265560 17265560 C T exonic CROCC nonsynonymous SNV CROCC:NM_014675:exon12:c.C1531T:p.P511S . . . . . . 0.3898 0.4256 0.3720 0.4628 0.4178 0.3852 0.4216 0.3465 . . . 0.26 0.11 rs9435793 COSM424610 1(haematopoietic_and_lymphoid_tissue);1(skin);7(thyroid);13(upper_aerodigestive_tract);9(large_intestine);4(central_nervous_system) . . . . . . . . . . . 0.217 0.191 T 0.007 0.384 B 0.013 0.416 B . . . 0.888 0.279 N 0.82 0.209 L 3.0 0.092 T 0.15 0.053 N 0.196 0.240 -0.958 0.397 T 0.000 0.000 T . . . 2.197 0.325 17.49 0.951 0.256 0.642 0.321 D c -0.186 0.002 0.980 0.300 0.731 0.878 0 4.42 0.526 1.342 0.333 0.931 0.441 0.816 0.297 0.924 0.398 8.338 0.312 . ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000268869.1|ENSG00000235241.1|ENSG00000238142.1 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid 0.3461 0.4030 0.3260 0.3492 0.4453 0.3563 0.3404 0.3546 0.2954 0.3421 0.3812 0.3074 0.2945 0.4395 0.3098 0.3205 0.3219 het 109.82 12 1 17265560 . C T 109.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.678;DP=12;Dels=0.00;FS=6.264;HRun=0;HaplotypeScore=0.0000;MQ=58.05;MQ0=0;MQRankSum=-0.678;QD=9.15;ReadPosRankSum=-1.663;VQSLOD=3.2823;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:4,8:12:99:140,0,125 1 17266536 17266536 G C exonic CROCC nonsynonymous SNV CROCC:NM_014675:exon13:c.G1756C:p.D586H . . . . . . 0.2566 0.1719 0.2157 0.4145 0.2473 0.2537 0.3025 0.2611 . . . 0.13 0.057 rs9435714 COSM1747941 3(breast);1(haematopoietic_and_lymphoid_tissue);2(urinary_tract);2(thyroid);8(upper_aerodigestive_tract);4(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.999 0.899 D 0.964 0.715 D . . . 0.990 0.412 D 2.215 0.627 M 2.82 0.109 T -3.9 0.729 D 0.531 0.571 -0.955 0.402 T 0.000 0.000 T . . . 5.102 0.688 25.3 0.983 0.398 0.959 0.665 D c 0.559 0.485 0.448 0.205 0.757 0.989 0 4.08 0.467 7.569 0.816 1.048 0.713 1.000 0.715 0.580 0.285 11.879 0.517 . ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000058453.12|ENSG00000235241.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1|ENSG00000238142.1|ENSG00000235241.1|ENSG00000238142.1 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.2292 0.1382 0.1904 0.2707 0.4013 0.2114 0.2218 0.2373 0.2411 0.2107 0.1454 0.2039 0.2483 0.4185 0.2068 0.2248 0.2278 het 252.18 42 1 17266536 . G C 252.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.832;DP=42;Dels=0.00;FS=1.574;HRun=0;HaplotypeScore=0.9469;MQ=58.09;MQ0=0;MQRankSum=0.715;QD=6.00;ReadPosRankSum=-1.030;VQSLOD=3.3778;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,11:42:99:282,0,903 1 17295679 17295679 T C exonic CROCC synonymous SNV CROCC:NM_014675:exon32:c.T5145C:p.A1715A 0.94 0.99 0.95 0.97 0.89 0.91 0.9155 0.9821 0.9612 0.9653 0.9146 0.8959 0.9308 0.8955 0.93 0.98 0.9 0.96 0.72 rs4920574 COSM4143042 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9152 0.9827 0.9581 0.9093 0.9653 0.9033 0.8937 0.9123 0.8950 0.9223 0.9820 0.9451 0.9106 0.9710 0.8986 0.8882 0.9008 hom 819.03 24 1 17295679 . T C 819.03 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;QD=34.13;VQSLOD=9.8757;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:66.21:852,66,0 1 17297252 17297252 A C exonic CROCC nonsynonymous SNV CROCC:NM_014675:exon35:c.A5774C:p.Q1925P . . . . . . 0.0002 0.0001 9.009e-05 0 0 0.0004 0 0 0.0004 . 0.0006 . . rs140590876 . . . . . . . . . . . . . 0.015 0.524 D 0.998 0.764 D 0.99 0.774 D . . . 0.947 0.376 D 2.72 0.798 M 2.72 0.120 T -3.68 0.703 D 0.566 0.599 -1.024 0.225 T 0.092 0.351 T 0.022 0.453 T 3.020 0.423 22.3 0.990 0.499 0.706 0.344 D c 0.543 0.490 0.993 0.330 0.635 0.413 0 4.6 0.564 2.290 0.430 1.083 0.853 1.000 0.715 0.994 0.587 12.282 0.539 . . . 0.0003 6.786e-05 0.0001 0 0 9.689e-05 0.0005 0 7.819e-05 0.0003 0.0001 0 0 0 0.0003 0.0004 0 het 87.88 18 1 17297252 . A C 87.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.070;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5606;MQ=58.71;MQ0=0;MQRankSum=-0.394;QD=4.88;ReadPosRankSum=0.000;VQSLOD=2.6560;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:118,0,367 1 17301780 17301780 A G exonic MFAP2 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 0.42 0.47 0.46 0.24 0.49 0.41 0.4427 0.4557 0.4797 0.2560 0.3895 0.4635 0.4473 0.4425 0.47 0.45 0.47 0.43 0.47 rs761422 COSM4417131 1(haematopoietic_and_lymphoid_tissue);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4460 0.4527 0.4859 0.4752 0.2586 0.3842 0.4724 0.4365 0.4461 0.4420 0.4433 0.4678 0.4868 0.2556 0.3793 0.4737 0.4424 het 424.66 45 1 17301780 . A G 424.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.796;DP=45;Dels=0.00;FS=2.704;HRun=0;HaplotypeScore=0.9469;MQ=58.55;MQ0=0;MQRankSum=1.054;QD=9.44;ReadPosRankSum=-0.197;VQSLOD=5.9954;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,18:45:99:455,0,672 1 17313343 17313343 G A exonic ATP13A2 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 0.34 0.14 0.46 0.26 0.51 0.43 0.4648 0.1973 0.4806 0.2930 0.4935 0.5210 0.4736 0.4700 0.42 0.21 0.52 0.26 0.55 rs9435659 COSM3747592;COSM3747591 3(liver);1(thyroid);1(large_intestine) Benign|Benign not_specified|Parkinson_disease_9 RCV000116442.2|RCV000309613.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4669 0.1868 0.4792 0.4839 0.2913 0.4828 0.5224 0.4668 0.4729 0.4122 0.1849 0.4665 0.5132 0.2923 0.4822 0.5309 0.4898 het 785.93 47 1 17313343 . G A 785.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.829;DP=47;Dels=0.00;FS=4.422;HRun=0;HaplotypeScore=0.0000;MQ=56.47;MQ0=0;MQRankSum=2.119;QD=16.72;ReadPosRankSum=1.115;VQSLOD=2.5731;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,27:47:99:816,0,426 1 17313654 17313654 C T exonic ATP13A2 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 0.35 0.17 0.46 0.25 0.51 0.43 0.4639 0.2236 0.4803 0.2894 0.4831 0.5174 0.4693 0.4688 0.43 0.24 0.52 0.23 0.54 rs761421 COSM3750608;COSM3750609 1(thyroid);1(large_intestine) Benign|Benign not_specified|Parkinson_disease_9 RCV000116439.2|RCV000360410.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4670 0.2153 0.4798 0.4841 0.2851 0.4812 0.5201 0.4673 0.4729 0.4177 0.2127 0.4664 0.5132 0.2844 0.4814 0.5274 0.4877 het 593.16 50 1 17313654 . C T 593.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.290;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-2.590;QD=11.86;ReadPosRankSum=-0.910;VQSLOD=9.3893;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:623,0,682 1 17314942 17314942 G A exonic ATP13A2 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 0.34 0.14 0.46 0.26 0.51 0.43 0.4590 0.1922 0.4754 0.2900 0.4779 0.5152 0.4635 0.4681 0.42 0.21 0.52 0.27 0.57 rs9435662 COSM3750612;COSM3750613 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign not_specified|Parkinson_disease_9 RCV000116435.2|RCV000331660.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4650 0.1860 0.4781 0.4835 0.2909 0.4808 0.5192 0.4664 0.4726 0.4103 0.1853 0.4616 0.5133 0.2915 0.4808 0.5279 0.4866 het 2787.09 192 1 17314942 . G A 2787.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.800;DP=192;DS;Dels=0.00;FS=2.011;HRun=0;HaplotypeScore=3.6448;MQ=59.76;MQ0=0;MQRankSum=2.737;QD=14.52;ReadPosRankSum=0.084;VQSLOD=4.5543;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,113:192:99:2817,0,2062 1 17319011 17319011 G A exonic ATP13A2 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 0.45 0.41 0.52 0.26 0.62 0.47 0.5540 0.4426 0.5381 0.2867 0.5433 0.6189 0.5640 0.5165 0.57 0.45 0.63 0.46 0.57 rs2076603 COSM3997075;COSM3997076 2(haematopoietic_and_lymphoid_tissue) Benign|Benign not_specified|Parkinson_disease_9 RCV000116434.2|RCV000299686.1 MedGen|MedGen:OMIM:Orphanet CN169374|C1847640:606693:ORPHA306674 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5576 0.4421 0.5458 0.6199 0.2882 0.5435 0.6259 0.5737 0.5186 0.5417 0.4381 0.5324 0.6367 0.2881 0.5424 0.6261 0.5675 hom 6970.57 240 1 17319011 . G A 6970.57 Mask AC=2;AF=1.00;AN=2;DP=240;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.8940;MQ=58.96;MQ0=0;QD=29.04;VQSLOD=3.4517;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,240:240:99:6970,542,0 1 17380497 17380497 G T exonic SDHB synonymous SNV SDHB:NM_003000:exon1:c.C18A:p.A6A 0.96 0.88 0.98 1. 0.97 0.99 0.9721 0.9100 0.9875 0.9986 0.9812 0.9701 0.9789 0.9878 0.95 0.91 0.97 0.92 0.75 rs2746462 . . Benign|Benign|Benign|Benign not_specified|Hereditary_cancer-predisposing_syndrome|Paraganglioma_and_gastric_stromal_sarcoma|Pheochromocytoma RCV000037717.7|RCV000162442.1|RCV000262815.1|RCV000329603.1 MedGen|MedGen:SNOMED_CT|MedGen:OMIM:Orphanet|MedGen:OMIM CN169374|C0027672:699346009|C1847319:606864:ORPHA97286|C0031511:171300 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9737 0.9123 0.9830 0.9540 0.9990 0.9790 0.9720 0.9670 0.9878 0.9577 0.9069 0.9690 0.9371 0.9994 0.9823 0.9755 0.9785 hom 804.36 32 1 17380497 . G T 804.36 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=2.286;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7077;MQ=59.28;MQ0=0;MQRankSum=1.455;QD=25.14;ReadPosRankSum=0.956;VQSLOD=5.6127;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:2,28:32:69.19:837,69,0 1 17396703 17396703 T C exonic PADI2 synonymous SNV PADI2:NM_007365:exon15:c.A1644G:p.L548L 0.44 0.31 0.54 0.39 0.59 0.47 0.5538 0.3768 0.5760 0.4075 0.5738 0.6085 0.5430 0.4979 0.53 0.39 0.6 0.37 0.67 rs2076595 COSM3750623 1(breast);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5553 0.3716 0.5698 0.5461 0.4097 0.5920 0.6075 0.5600 0.4988 0.5313 0.3784 0.5203 0.5662 0.3830 0.6015 0.6160 0.5891 het 2698.59 232 1 17396703 . T C 2698.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.814;DP=232;DS;Dels=0.00;FS=1.628;HRun=1;HaplotypeScore=2.9294;MQ=58.88;MQ0=0;MQRankSum=-0.244;QD=11.63;ReadPosRankSum=0.788;VQSLOD=6.3571;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:129,103:232:99:2729,0,3402 1 17402255 17402255 C T exonic PADI2 synonymous SNV PADI2:NM_007365:exon12:c.G1374A:p.A458A 0.53 0.48 0.58 0.4 0.66 0.54 0.6133 0.5310 0.6212 0.4127 0.5890 0.6639 0.6233 0.5694 0.62 0.54 0.65 0.41 0.69 rs3818032 COSM3750624 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6126 0.5251 0.6184 0.6819 0.4154 0.6056 0.6593 0.6323 0.5704 0.6009 0.5335 0.5817 0.7053 0.3859 0.6155 0.6579 0.6145 hom 5347 171 1 17402255 . C T 5347 Mask AC=2;AF=1.00;AN=2;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6513;MQ=59.29;MQ0=0;QD=31.27;VQSLOD=7.3140;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:171:99:5346,433,0 1 17405809 17405809 G A exonic PADI2 synonymous SNV PADI2:NM_007365:exon11:c.C1260T:p.N420N 0.43 0.29 0.53 0.39 0.57 0.46 0.5377 0.3526 0.5738 0.4020 0.5455 0.5876 0.5430 0.4944 0.5 0.36 0.58 0.39 0.61 rs2057096 COSM3997079;COSM3750625 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5393 0.3484 0.5656 0.5258 0.4034 0.5644 0.5863 0.5449 0.4964 0.5083 0.3580 0.5156 0.5662 0.3708 0.5742 0.5902 0.5592 het 1840.23 140 1 17405809 . G A 1840.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.516;DP=140;Dels=0.00;FS=4.282;HRun=0;HaplotypeScore=6.9513;MQ=59.38;MQ0=0;MQRankSum=-1.237;QD=13.14;ReadPosRankSum=0.620;VQSLOD=4.3099;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:65,75:140:99:1870,0,1506 1 17550121 17550121 G A exonic PADI1 synonymous SNV PADI1:NM_013358:exon3:c.G279A:p.R93R 0.15 0.048 0.31 0.16 0.14 0.16 0.1662 0.0587 0.3570 0.1437 0.1334 0.1577 0.1391 0.1610 0.12 0.055 0.16 0.12 0.12 rs2293912 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1749 0.0552 0.3525 0.1492 0.1483 0.1277 0.1580 0.1606 0.1617 0.1345 0.0514 0.3110 0.1325 0.1389 0.1334 0.1708 0.1673 het 1129.49 85 1 17550121 . G A 1129.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.560;DP=85;Dels=0.00;FS=13.853;HRun=0;HaplotypeScore=2.7979;MQ=58.25;MQ0=0;MQRankSum=1.313;QD=13.29;ReadPosRankSum=0.641;VQSLOD=3.7928;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,47:85:99:1159,0,899 1 17555508 17555508 G T exonic PADI1 synonymous SNV PADI1:NM_013358:exon8:c.G891T:p.T297T 0.21 0.18 0.19 0.059 0.35 0.29 0.3318 0.2453 0.2376 0.0814 0.3743 0.3750 0.3476 0.3445 0.28 0.21 0.32 0.18 0.16 rs2977234 COSM424650 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2682 0.1970 0.1730 0.2762 0.0502 0.3248 0.3167 0.2860 0.3220 0.2782 0.2173 0.2055 0.2947 0.0512 0.3359 0.3275 0.2953 het 282.58 27 1 17555508 . G T 282.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.854;DP=27;Dels=0.00;FS=5.734;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.073;QD=10.47;ReadPosRankSum=1.439;VQSLOD=5.0178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,12:27:99:313,0,401 1 17557133 17557133 A C exonic PADI1 synonymous SNV PADI1:NM_013358:exon10:c.A1120C:p.R374R 0.41 0.4 0.32 0.37 0.43 0.5 0.4193 0.4200 0.2639 0.3643 0.4492 0.4336 0.3790 0.4862 0.41 0.41 0.42 0.4 0.33 rs3003406 COSM146420 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4032 0.4119 0.2619 0.3867 0.3590 0.4424 0.4281 0.3851 0.4674 0.4219 0.4131 0.2804 0.4238 0.3998 0.4467 0.4320 0.4143 hom 609.16 24 1 17557133 . A C 609.16 Mask AC=2;AF=1.00;AN=2;DP=24;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=25.38;VQSLOD=13.5756;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,24:24:51.15:642,51,0 1 17601165 17601165 C T exonic PADI3 synonymous SNV PADI3:NM_016233:exon11:c.C1191T:p.R397R 0.061 0.012 0.099 0.001 0.18 0.042 0.1219 0.0296 0.0592 0.0002 0.2032 0.1724 0.1217 0.0507 0.11 0.029 0.15 0.065 0.13 rs11585357 COSM3750634 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1210 0.0280 0.0652 0.1098 0.0002 0.2049 0.1720 0.1308 0.0514 0.1252 0.0301 0.0646 0.1291 0 0.2142 0.1738 0.1697 het 1686.38 126 1 17601165 . C T 1686.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.577;DP=126;Dels=0.00;FS=4.421;HRun=0;HaplotypeScore=2.7886;MQ=59.85;MQ0=0;MQRankSum=0.117;QD=13.38;ReadPosRankSum=-1.388;VQSLOD=5.5991;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:59,67:126:99:1716,0,1459 1 17657534 17657534 G A exonic PADI4 nonsynonymous SNV PADI4:NM_012387:exon2:c.G163A:p.G55S 0.52 0.45 0.54 0.56 0.58 0.52 0.5612 0.4751 0.5016 0.5836 0.5975 0.5877 0.5639 0.5238 0.55 0.48 0.58 0.39 0.56 rs11203366 COSM3746670 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.900 0.073 N 1 0.090 P -1.15 0.009 N 3.29 0.065 T 1.46 0.010 N 0.022 0.005 -0.912 0.466 T 0.000 0.000 T . . . -1.891 0.009 0.002 0.485 0.040 0.005 0.024 N c -2.090 -2.135 1.000 0.500 0.554 0.246 0 -10.9 0.002 -1.239 0.030 -1.964 0.005 0.000 0.063 0.000 0.016 4.291 0.102 Cupredoxin|Protein-arginine deiminase (PAD) N-terminal ENSG00000159339.9|ENSG00000159339.9|ENSG00000159339.9 Brain_Cortex|Brain_Frontal_Cortex_BA9|Lung 0.5593 0.4690 0.5007 0.5960 0.5763 0.5905 0.5861 0.5702 0.5221 0.5579 0.4784 0.5489 0.5867 0.5989 0.5854 0.5918 0.5786 het 1231.64 100 1 17657534 . G A 1231.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.871;DP=100;Dels=0.00;FS=2.683;HRun=0;HaplotypeScore=5.9130;MQ=59.19;MQ0=0;MQRankSum=0.406;QD=12.32;ReadPosRankSum=-1.162;VQSLOD=4.9922;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,45:100:99:1262,0,1357 1 17657616 17657616 T C exonic PADI4 nonsynonymous SNV PADI4:NM_012387:exon2:c.T245C:p.V82A 0.53 0.48 0.55 0.56 0.57 0.52 0.5641 0.4996 0.5030 0.5837 0.5976 0.5878 0.5653 0.5279 0.55 0.51 0.58 0.41 0.55 rs11203367 COSM3746671 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 1.0 0.030 T 0.0 0.026 B 0.0 0.013 B 0.173 0.173 N 1 0.090 P -2.405 0.001 N 3.24 0.069 T 2.3 0.004 N 0.011 0.002 -0.959 0.394 T 0.000 0.000 T . . . -1.269 0.023 0.005 0.260 0.012 0.001 0.005 N c -1.343 -1.171 0.068 0.154 0.549 0.223 0 4.66 0.577 1.251 0.322 0.069 0.176 0.070 0.219 0.007 0.100 9.012 0.351 Cupredoxin|Protein-arginine deiminase (PAD) N-terminal ENSG00000159339.9|ENSG00000159339.9|ENSG00000159339.9 Brain_Cortex|Brain_Frontal_Cortex_BA9|Lung 0.5619 0.4966 0.5021 0.5968 0.5777 0.5903 0.5862 0.5722 0.5270 0.5648 0.5040 0.5489 0.5894 0.5979 0.5853 0.5913 0.5792 het 721.43 75 1 17657616 . T C 721.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.325;DP=75;Dels=0.00;FS=0.904;HRun=0;HaplotypeScore=5.4511;MQ=59.17;MQ0=0;MQRankSum=1.779;QD=9.62;ReadPosRankSum=1.173;VQSLOD=4.8413;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,30:75:99:751,0,1183 1 17660499 17660499 G C exonic PADI4 nonsynonymous SNV PADI4:NM_012387:exon3:c.G335C:p.G112A 0.52 0.46 0.54 0.56 0.55 0.52 0.5462 0.4786 0.4969 0.5812 0.5648 0.5644 0.5463 0.5242 0.53 0.49 0.55 0.39 0.52 rs874881 COSM3746672 1(bone);1(haematopoietic_and_lymphoid_tissue);2(liver) . . . . . . . . . . . 0.821 0.054 T 0.639 0.385 P 0.19 0.347 B 0.001 0.436 D 0.290 0.335 P 1.715 0.445 L 3.16 0.077 T -2.94 0.614 D 0.191 0.360 -1.027 0.214 T 0.000 0.000 T . . . 1.496 0.242 13.29 0.861 0.158 0.793 0.390 D c 0.016 0.108 0.905 0.262 0.487 0.133 0 4.74 0.596 3.695 0.542 0.948 0.535 0.912 0.315 0.975 0.474 13.600 0.613 Cupredoxin ENSG00000159339.9|ENSG00000159339.9|ENSG00000159339.9 Brain_Cortex|Brain_Frontal_Cortex_BA9|Lung 0.5454 0.4767 0.4979 0.5775 0.5780 0.5587 0.5637 0.5545 0.5252 0.5399 0.4802 0.5432 0.5733 0.5962 0.5567 0.5624 0.5602 het 1367.51 119 1 17660499 . G C 1367.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.510;DP=119;Dels=0.00;FS=0.700;HRun=0;HaplotypeScore=2.6287;MQ=59.65;MQ0=0;MQRankSum=-0.683;QD=11.49;ReadPosRankSum=0.481;VQSLOD=6.1207;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,60:119:99:1398,0,1624 1 17662662 17662662 T C exonic PADI4 synonymous SNV PADI4:NM_012387:exon4:c.T349C:p.L117L 0.59 0.54 0.58 0.62 0.66 0.57 0.6373 0.5738 0.5278 0.6332 0.6863 0.6778 0.6192 0.5738 0.64 0.58 0.66 0.47 0.62 rs1748033 COSM3746673 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6326 0.5702 0.5325 0.6537 0.6276 0.6817 0.6768 0.6332 0.5731 0.6488 0.5772 0.5839 0.6424 0.6450 0.6718 0.6882 0.6639 het 503.14 54 1 17662662 . T C 503.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.475;DP=54;Dels=0.00;FS=2.509;HRun=2;HaplotypeScore=3.9897;MQ=58.02;MQ0=0;MQRankSum=-0.188;QD=9.32;ReadPosRankSum=-0.116;VQSLOD=4.9379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,20:54:99:533,0,935 1 17674537 17674537 C A exonic PADI4 synonymous SNV PADI4:NM_012387:exon10:c.C1149A:p.R383R 0.42 0.35 0.41 0.56 0.35 0.45 0.3895 0.3722 0.4149 0.5867 0.3462 0.3545 0.3794 0.4389 0.36 0.37 0.35 0.25 0.3 rs2240335 COSM4143062 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3887 0.3731 0.4123 0.4147 0.5831 0.3361 0.3493 0.3779 0.4369 0.3668 0.3711 0.4475 0.3907 0.6046 0.3339 0.3409 0.3709 het 804.19 91 1 17674537 . C A 804.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.722;DP=91;Dels=0.00;FS=0.878;HRun=0;HaplotypeScore=2.1101;MQ=59.18;MQ0=0;MQRankSum=0.235;QD=8.84;ReadPosRankSum=1.964;VQSLOD=5.9461;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,36:91:99:834,0,1401 1 17739586 17739586 G A exonic RCC2 synonymous SNV RCC2:NM_001136204:exon9:c.C1296T:p.I432I,RCC2:NM_018715:exon10:c.C1296T:p.I432I 0.33 0.37 0.37 0.16 0.37 0.39 0.3577 0.3934 0.3412 0.1624 0.4101 0.3635 0.34 0.4055 0.36 0.39 0.35 0.23 0.25 rs942457 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3534 0.3883 0.3475 0.2454 0.1651 0.4060 0.3660 0.3314 0.4030 0.3683 0.3899 0.3505 0.2748 0.1741 0.4084 0.3688 0.3924 het 745.94 65 1 17739586 . G A 745.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.647;DP=65;Dels=0.00;FS=3.459;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.136;QD=11.48;ReadPosRankSum=0.085;VQSLOD=6.3027;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:34,31:65:99:776,0,850 1 17991052 17991052 T C exonic ARHGEF10L nonsynonymous SNV ARHGEF10L:NM_001319838:exon15:c.T2080C:p.W694R,ARHGEF10L:NM_001328124:exon18:c.T2305C:p.W769R,ARHGEF10L:NM_001319837:exon23:c.T2839C:p.W947R,ARHGEF10L:NM_001011722:exon24:c.T2854C:p.W952R,ARHGEF10L:NM_018125:exon26:c.T2971C:p.W991R 1. 1. 1. 1. 1. 1. 1.0000 0.9995 1 1 1 1 1 1 1. 1. 1. 1. 0.97 rs6695710 COSM4143083;COSM4143084;COSM4143082 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9992 0.9999 0.9999 1 0.9996 0.9999 0.9998 1.0000 0.9999 0.9997 1 1 1 1 1 1 hom 987.92 33 1 17991052 . T C 987.92 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.8321;MQ=58.15;MQ0=0;QD=29.94;VQSLOD=7.8664;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:81.24:1021,81,0 1 18023365 18023365 C T exonic ARHGEF10L synonymous SNV ARHGEF10L:NM_001319838:exon18:c.C2439T:p.N813N,ARHGEF10L:NM_001328124:exon21:c.C2664T:p.N888N,ARHGEF10L:NM_001319837:exon26:c.C3198T:p.N1066N,ARHGEF10L:NM_001011722:exon27:c.C3213T:p.N1071N,ARHGEF10L:NM_018125:exon29:c.C3330T:p.N1110N 0.78 0.59 0.87 0.84 0.82 0.91 0.8169 0.6268 0.8969 0.8160 0.7810 0.8202 0.8467 0.8946 0.76 0.63 0.83 0.73 0.84 rs2270978 COSM3750657;COSM3750656;COSM3750658 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8223 0.6202 0.8898 0.8464 0.8184 0.7846 0.8207 0.8386 0.8920 0.7625 0.6163 0.8831 0.8808 0.8337 0.7785 0.8245 0.8 hom 1981.48 68 1 18023365 . C T 1981.48 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.98;MQ0=0;QD=29.14;VQSLOD=9.0940;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2014,156,0 1 18023509 18023509 T C exonic ARHGEF10L synonymous SNV ARHGEF10L:NM_001319838:exon18:c.T2583C:p.D861D,ARHGEF10L:NM_001328124:exon21:c.T2808C:p.D936D,ARHGEF10L:NM_001319837:exon26:c.T3342C:p.D1114D,ARHGEF10L:NM_001011722:exon27:c.T3357C:p.D1119D,ARHGEF10L:NM_018125:exon29:c.T3474C:p.D1158D 0.83 0.72 0.88 0.9 0.82 0.91 0.8351 0.7444 0.9004 0.8931 0.7815 0.8194 0.8527 0.8920 0.81 0.76 0.83 0.74 0.6 rs2270977 COSM3750661;COSM3750660;COSM3750659 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8387 0.7405 0.8962 0.8506 0.8947 0.7819 0.8195 0.8455 0.8929 0.8031 0.7421 0.8911 0.8841 0.9036 0.7806 0.8260 0.8102 hom 1060.31 32 1 18023509 . T C 1060.31 Mask AC=2;AF=1.00;AN=2;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.95;MQ0=0;QD=33.13;VQSLOD=8.4404;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,32:32:87.27:1093,87,0 1 18023690 18023690 A G exonic ARHGEF10L nonsynonymous SNV ARHGEF10L:NM_001319838:exon18:c.A2764G:p.I922V,ARHGEF10L:NM_001328124:exon21:c.A2989G:p.I997V,ARHGEF10L:NM_001319837:exon26:c.A3523G:p.I1175V,ARHGEF10L:NM_001011722:exon27:c.A3538G:p.I1180V,ARHGEF10L:NM_018125:exon29:c.A3655G:p.I1219V 0.82 0.67 0.87 0.9 0.82 0.92 0.8355 0.7006 0.9020 0.8953 0.7883 0.8238 0.8561 0.8947 0.8 0.71 0.84 0.48 0.69 rs2270976 COSM3750662;COSM3750664;COSM3750663 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.018 0.276 N 1 0.090 P -1.195 0.008 N 0.63 0.580 T 0.26 0.044 N 0.02 0.004 -0.952 0.407 T 0.000 0.000 T . . . 0.292 0.122 5.618 0.702 0.089 0.021 0.061 N c -0.971 -0.769 0.370 0.199 0.632 0.408 0 2.98 0.334 1.226 0.320 0.073 0.181 0.841 0.301 0.996 0.625 7.746 0.279 . . . 0.8387 0.6957 0.8960 0.8499 0.8950 0.7852 0.8242 0.8462 0.8960 0.7914 0.6948 0.8878 0.8841 0.9036 0.7818 0.8293 0.8078 hom 1223.16 39 1 18023690 . A G 1223.16 Mask AC=2;AF=1.00;AN=2;DP=39;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.55;MQ0=0;QD=31.36;VQSLOD=9.5518;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,39:39:99:1256,111,0 1 18149510 18149510 G T exonic ACTL8 nonsynonymous SNV ACTL8:NM_030812:exon2:c.G7T:p.A3S 0.31 0.14 0.32 0.43 0.44 0.25 0.3921 0.2029 0.3192 0.4187 0.5284 0.4430 0.4066 0.2816 0.35 0.2 0.42 0.25 0.4 rs694214 COSM3746686 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.164 0.233 T 0.004 0.112 B 0.008 0.127 B 0.426 0.047 N 1 0.090 P -0.2 0.042 N -3.46 0.945 D -0.23 0.107 N 0.073 0.062 -1.017 0.247 T 0.000 0.000 T . . . -1.302 0.022 0.004 0.880 0.171 0.113 0.164 N c -1.276 -1.338 0.000 0.041 0.554 0.283 0 -3.42 0.045 0.210 0.171 -0.465 0.055 0.000 0.063 0.052 0.166 3.746 0.080 . . . 0.3889 0.1977 0.3176 0.4680 0.4263 0.5170 0.4302 0.4047 0.2721 0.3735 0.1932 0.3341 0.4667 0.4440 0.5046 0.4364 0.4367 het 740.31 69 1 18149510 . G T 740.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.818;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9977;MQ=59.67;MQ0=0;MQRankSum=-0.682;QD=10.73;ReadPosRankSum=0.043;VQSLOD=6.4687;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,27:69:99:770,0,1307 1 18149566 18149566 C A exonic ACTL8 synonymous SNV ACTL8:NM_030812:exon2:c.C63A:p.G21G 0.48 0.32 0.58 0.69 0.47 0.43 0.4969 0.3488 0.6865 0.6575 0.5808 0.4792 0.4912 0.4116 0.42 0.34 0.46 0.43 0.43 rs2296035 COSM3746687 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5095 0.3508 0.6786 0.5444 0.6674 0.5726 0.4664 0.5009 0.4161 0.4630 0.3370 0.6391 0.5633 0.6689 0.5633 0.4756 0.5143 het 1326.18 119 1 18149566 . C A 1326.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.889;DP=119;Dels=0.00;FS=3.897;HRun=0;HaplotypeScore=4.1893;MQ=59.30;MQ0=0;MQRankSum=-0.088;QD=11.14;ReadPosRankSum=0.019;VQSLOD=5.5784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,53:119:99:1356,0,1948 1 18807897 18807897 C G exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C422G:p.P141R 0.65 0.57 0.71 0.9 0.61 0.48 0.6493 0.5786 0.8126 0.8993 0.6345 0.6326 0.6512 0.5159 0.62 0.6 0.63 0.59 0.64 rs2992755 COSM1742560 1(urinary_tract) . . . . . . . . . . . 0.482 0.082 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 0 0.065 N -0.68 0.726 T 0.32 0.040 N 0.037 0.017 -1.015 0.253 T 0.000 0.000 T . . . -0.317 0.067 0.607 0.758 0.109 0.010 0.037 N c -1.400 -1.365 1.000 0.407 0.545 0.220 0 1.18 0.200 0.014 0.131 -1.654 0.008 0.000 0.063 0.000 0.016 5.254 0.148 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6583 0.5810 0.8040 0.6972 0.8954 0.6454 0.6290 0.6618 0.5068 0.6361 0.5783 0.7673 0.6391 0.8776 0.6431 0.6339 0.6439 hom 1814.17 58 1 18807897 . C G 1814.17 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=31.28;VQSLOD=8.9509;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1847,159,0 1 18807953 18807953 C A exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C478A:p.R160S 0.28 0.25 0.34 0.23 0.36 0.24 0.3362 0.2715 0.3790 0.2293 0.3699 0.3689 0.3650 0.2535 0.32 0.25 0.35 0.27 0.46 rs11261022 COSM3750705 1(haematopoietic_and_lymphoid_tissue);2(large_intestine);1(central_nervous_system) . . . . . . . . . . . 0.724 0.039 T 0.026 0.181 B 0.008 0.127 B 0.550 0.054 U 1 0.090 P 0.69 0.170 N -0.62 0.719 T 0.34 0.038 N 0.033 0.013 -1.049 0.146 T 0.000 0.000 T . . . -0.191 0.077 1.144 0.886 0.176 0.051 0.108 N c -1.576 -1.611 1.000 0.473 0.387 0.051 2 -3.99 0.038 -4.109 0.003 -1.000 0.022 0.000 0.063 0.001 0.043 2.446 0.042 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Lung|Pituitary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3386 0.2719 0.3695 0.3951 0.2279 0.3720 0.3661 0.3703 0.2528 0.3286 0.2668 0.3657 0.3907 0.2292 0.3786 0.3580 0.3635 hom 2830.55 88 1 18807953 . C A 2830.55 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9962;MQ=58.65;MQ0=0;QD=32.17;VQSLOD=8.8923;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2864,226,0 1 18808292 18808292 C A exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.C817A:p.H273N 0.67 0.66 0.73 0.9 0.61 0.48 0.6539 0.6651 0.8149 0.8996 0.6345 0.6310 0.6582 0.5053 0.64 0.67 0.63 0.62 0.63 rs2992753 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.182 0.171 N 1 0.090 P -2.135 0.001 N -0.31 0.680 T 1.5 0.007 N 0.012 0.001 -0.948 0.413 T 0.000 0.000 T . . . 0.181 0.111 4.482 0.296 0.016 0.041 0.094 N c -1.052 -0.824 1.000 0.434 0.487 0.133 0 4.92 0.640 3.380 0.519 0.125 0.212 0.918 0.317 0.947 0.422 10.544 0.440 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6638 0.6700 0.8076 0.6959 0.8954 0.6439 0.6283 0.6655 0.5068 0.6624 0.6702 0.7745 0.6391 0.8781 0.6420 0.6345 0.6469 hom 5402.15 169 1 18808292 . C A 5402.15 Mask AC=2;AF=1.00;AN=2;DP=169;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.7591;MQ=59.46;MQ0=0;QD=31.97;VQSLOD=8.8115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,169:169:99:5402,436,0 1 18808465 18808465 T A exonic KLHDC7A synonymous SNV KLHDC7A:NM_152375:exon1:c.T990A:p.A330A 0.67 0.66 0.73 0.89 0.61 0.48 0.6557 0.6701 0.8170 0.8988 0.6397 0.6324 0.6540 0.5058 0.64 0.66 0.63 0.62 0.58 rs3007718 COSM3722302 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6646 0.6721 0.8079 0.6961 0.8950 0.6445 0.6288 0.6642 0.5065 0.6621 0.6699 0.7745 0.6367 0.8782 0.6418 0.6340 0.6459 hom 1096.55 36 1 18808465 . T A 1096.55 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2859;MQ=58.71;MQ0=0;QD=30.46;VQSLOD=8.4087;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:36:93.28:1130,93,0 1 18808526 18808526 A C exonic KLHDC7A nonsynonymous SNV KLHDC7A:NM_152375:exon1:c.A1051C:p.T351P 0.67 0.66 0.73 0.89 0.61 0.48 0.6552 0.6690 0.8169 0.8983 0.6390 0.6318 0.6519 0.5065 0.64 0.66 0.63 0.64 0.59 rs2992752 COSM424852 4(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.496 0.051 N 1 0.090 P -2.005 0.002 N -0.57 0.713 T 2.23 0.003 N 0.053 0.035 -0.969 0.374 T 0.000 0.000 T . . . -2.153 0.006 0.001 0.086 0.001 0.021 0.062 N c -1.876 -1.772 1.000 0.409 0.487 0.133 0 0.69 0.171 -0.725 0.050 -0.975 0.023 0.000 0.063 0.000 0.016 3.866 0.085 . ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7|ENSG00000179023.7 Adipose_Subcutaneous|Breast_Mammary_Tissue|Colon_Transverse|Esophagus_Mucosa|Lung|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6640 0.6707 0.8079 0.6961 0.8947 0.6435 0.6277 0.6648 0.5071 0.6622 0.6704 0.7763 0.6391 0.8778 0.6421 0.6339 0.6469 hom 1150.74 35 1 18808526 . A C 1150.74 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=32.88;VQSLOD=9.1507;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:93.29:1184,93,0 1 19175846 19175846 T C exonic TAS1R2 nonsynonymous SNV TAS1R2:NM_152232:exon4:c.A1456G:p.I486V 0.13 0.14 0.24 0.002 0.21 0.07 0.1755 0.1441 0.2150 0.0020 0.2462 0.2069 0.1938 0.1028 0.19 0.15 0.21 0.15 0.19 rs28374389 COSM4986357 8(soft_tissue);1(pancreas) . . . . . . . . . . . 0.276 0.157 T 0.0 0.026 B 0.0 0.013 B 0.168 0.174 N 1 0.090 P 0.69 0.170 N -2.34 0.880 D 0.49 0.030 N 0.014 0.002 -1.105 0.035 T 0.000 0.000 T . . . -0.985 0.033 0.017 0.585 0.059 0.015 0.048 N c -1.387 -1.388 0.000 0.055 0.497 0.185 0 -1.92 0.072 -0.517 0.063 -0.954 0.024 0.000 0.063 0.885 0.372 9.840 0.400 . . . 0.1799 0.1460 0.2092 0.1954 0.0020 0.2517 0.2079 0.1870 0.1067 0.1933 0.1423 0.2315 0.1887 0.0018 0.2556 0.2263 0.2086 het 967.14 66 1 19175846 . T C 967.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.344;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5757;MQ=59.05;MQ0=0;MQRankSum=0.439;QD=14.65;ReadPosRankSum=-0.401;VQSLOD=6.2664;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,37:66:99:997,0,748 1 19186129 19186129 G C exonic TAS1R2 nonsynonymous SNV TAS1R2:NM_152232:exon1:c.C26G:p.S9C 0.8 0.82 0.84 0.77 0.78 0.78 0.7804 0.8181 0.8332 0.7517 0.7009 0.7755 0.75 0.7880 0.79 0.83 0.77 0.87 0.75 rs9701796 COSM3746703 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.675 0.000 N -2.47 0.890 D 2.02 0.004 N 0.061 0.045 -0.963 0.387 T 0.000 0.000 T . . . -2.170 0.006 0.001 0.564 0.054 0.002 0.010 N c -1.595 -1.511 0.000 0.029 0.447 0.083 0 1.14 0.197 -0.020 0.124 -0.478 0.053 0.000 0.063 0.004 0.083 8.487 0.321 . . . 0.7815 0.8159 0.8301 0.8186 0.7566 0.6902 0.7785 0.7886 0.7890 0.7696 0.8202 0.8270 0.7815 0.7550 0.6887 0.7591 0.7393 hom 3656.48 110 1 19186129 . G C 3656.48 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4787;MQ=58.95;MQ0=0;QD=33.24;VQSLOD=8.6540;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3656,280,0 1 19201956 19201956 A G exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001319218:exon12:c.T1227C:p.D409D,ALDH4A1:NM_001161504:exon13:c.T1200C:p.D400D,ALDH4A1:NM_003748:exon13:c.T1380C:p.D460D,ALDH4A1:NM_170726:exon13:c.T1380C:p.D460D 0.74 0.7 0.81 0.71 0.74 0.76 0.7298 0.6894 0.8260 0.7163 0.6986 0.7175 0.7208 0.7575 0.7 0.68 0.71 0.72 0.64 rs2230708 . . Benign Hyperprolinemia RCV000316598.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7323 0.6882 0.8184 0.7179 0.7132 0.6822 0.7192 0.7393 0.7578 0.6951 0.6823 0.7959 0.6987 0.7140 0.6725 0.6993 0.7070 het 1361.92 142 1 19201956 . A G 1361.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.512;DP=142;Dels=0.00;FS=3.122;HRun=0;HaplotypeScore=4.1164;MQ=59.40;MQ0=0;MQRankSum=0.954;QD=9.59;ReadPosRankSum=-0.230;VQSLOD=5.3178;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,57:142:99:1392,0,2382 1 19202896 19202896 G A exonic ALDH4A1 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 0.52 0.46 0.65 0.6 0.45 0.49 0.5069 0.4468 0.7109 0.6211 0.4430 0.4738 0.5056 0.5007 0.45 0.44 0.46 0.51 0.24 rs2230707 COSM4143136;COSM4143135 1(thyroid);1(large_intestine) Likely benign Hyperprolinemia RCV000295896.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5110 0.4397 0.6940 0.4964 0.6119 0.4345 0.4696 0.5110 0.4988 0.4583 0.4380 0.6468 0.4967 0.6035 0.4390 0.4470 0.4682 het 1095.72 67 1 19202896 . G A 1095.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.082;DP=67;Dels=0.00;FS=2.508;HRun=0;HaplotypeScore=4.5456;MQ=58.96;MQ0=0;MQRankSum=1.500;QD=16.35;ReadPosRankSum=-0.563;VQSLOD=4.8755;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:29,38:67:99:1126,0,857 1 19202917 19202917 T C exonic ALDH4A1 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 0.66 0.47 0.77 0.71 0.71 0.74 0.7024 0.5050 0.8090 0.7275 0.6789 0.7011 0.6974 0.7487 0.62 0.48 0.69 0.56 0.37 rs7550938 COSM1337325;COSM1337326 1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) Benign Hyperprolinemia RCV000350845.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6990 0.4836 0.7950 0.6881 0.7146 0.6512 0.6943 0.7086 0.7419 0.6232 0.4823 0.7632 0.66 0.7148 0.6503 0.6768 0.6784 het 505.98 45 1 19202917 . T C 505.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.478;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3901;MQ=58.97;MQ0=0;MQRankSum=0.114;QD=11.24;ReadPosRankSum=0.419;VQSLOD=5.2918;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:19,25:45:99:536,0,470 1 19202926 19202926 T C exonic ALDH4A1 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 0.66 0.47 0.77 0.7 0.71 0.74 0.7061 0.5095 0.8123 0.7310 0.6821 0.7043 0.6975 0.7509 0.62 0.48 0.69 0.58 0.26 rs2230706 COSM1337328;COSM1337327 1(kidney);1(thyroid) Benign Hyperprolinemia RCV000397654.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6985 0.4825 0.7944 0.6896 0.7132 0.6489 0.6930 0.7087 0.7421 0.6223 0.4818 0.7620 0.66 0.7137 0.6503 0.6756 0.6776 het 390.06 33 1 19202926 . T C 390.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.264;DP=33;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.5506;MQ=59.30;MQ0=0;MQRankSum=1.246;QD=11.82;ReadPosRankSum=1.246;VQSLOD=4.2394;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:420,0,314 1 19203997 19203997 C G exonic ALDH4A1 synonymous SNV ALDH4A1:NM_001161504:exon10:c.G870C:p.A290A,ALDH4A1:NM_001319218:exon10:c.G1050C:p.A350A,ALDH4A1:NM_003748:exon10:c.G1050C:p.A350A,ALDH4A1:NM_170726:exon10:c.G1050C:p.A350A 0.64 0.73 0.74 0.47 0.71 0.56 0.7072 0.7378 0.7631 0.5004 0.8077 0.7353 0.7132 0.6051 0.71 0.72 0.71 0.69 0.66 rs2230705 COSM424869;COSM1473186 1(breast);2(thyroid);1(large_intestine) Benign Hyperprolinemia RCV000267887.1 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6899 0.7223 0.7466 0.6149 0.4518 0.8004 0.7184 0.7007 0.5899 0.7197 0.7211 0.7279 0.6159 0.4439 0.7994 0.7301 0.7474 het 363.05 34 1 19203997 . C G 363.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.107;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.090;QD=10.68;ReadPosRankSum=0.702;VQSLOD=12.0030;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,17:34:99:393,0,490 1 19411129 19411129 A G exonic UBR4 synonymous SNV UBR4:NM_020765:exon102:c.T14877C:p.H4959H 0.72 0.84 0.73 0.81 0.61 0.57 0.6447 0.8051 0.8129 0.8122 0.5252 0.6036 0.5773 0.5557 0.67 0.81 0.6 0.71 0.6 rs1043905 COSM3750714;COSM5827644;COSM4783669;COSM3750713 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6450 0.8033 0.7925 0.5685 0.8142 0.5235 0.6106 0.6202 0.5523 0.6701 0.8088 0.7883 0.57 0.7974 0.5284 0.6081 0.6063 het 1303.69 103 1 19411129 . A G 1303.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.386;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;MQRankSum=0.736;QD=12.66;ReadPosRankSum=0.300;VQSLOD=7.2795;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,50:103:99:1334,0,1491 1 19413261 19413261 T A exonic UBR4 nonsynonymous SNV UBR4:NM_020765:exon100:c.A14599T:p.M4867L 0.6 0.54 0.68 0.76 0.58 0.49 0.5830 0.5470 0.7738 0.7618 0.5058 0.5674 0.5365 0.4748 0.56 0.55 0.57 0.61 0.54 rs12584 COSM5827646;COSM3750715;COSM3750716;COSM4783674 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.163 0.234 T 0.0 0.026 B 0.0 0.013 B 0.001 0.437 N 0.751 0.296 P -0.345 0.033 N 1.64 0.278 T -0.11 0.087 N 0.045 0.071 -1.040 0.172 T 0.000 0.000 T . . . 2.334 0.342 18.39 0.875 0.167 0.751 0.365 D c -0.628 -0.417 0.965 0.288 0.707 0.730 0 0.893 0.183 2.611 0.458 0.964 0.580 1.000 0.715 1.000 0.888 5.268 0.148 . ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9|ENSG00000127463.9 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid 0.5888 0.5405 0.7552 0.5501 0.7636 0.5018 0.5726 0.5718 0.4707 0.5690 0.5376 0.7326 0.5497 0.7478 0.5057 0.5750 0.5520 het 669.01 61 1 19413261 . T A 669.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.410;DP=61;Dels=0.00;FS=0.982;HRun=1;HaplotypeScore=0.0000;MQ=58.69;MQ0=0;MQRankSum=-1.126;QD=10.97;ReadPosRankSum=-1.141;VQSLOD=5.0809;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,27:61:99:699,0,898 1 19415304 19415304 C T exonic UBR4 synonymous SNV UBR4:NM_020765:exon98:c.G14379A:p.K4793K 0.59 0.51 0.68 0.76 0.58 0.48 0.5807 0.5249 0.7729 0.7607 0.5059 0.5671 0.5341 0.4744 0.55 0.53 0.57 0.61 0.54 rs1043899 COSM3750718;COSM3750717;COSM5827648;COSM4783648 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5871 0.5187 0.7545 0.5498 0.7622 0.5019 0.5724 0.5715 0.4703 0.5611 0.5116 0.7314 0.5430 0.7450 0.5057 0.5743 0.5532 het 1182.18 108 1 19415304 . C T 1182.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.561;DP=108;Dels=0.00;FS=6.260;HRun=2;HaplotypeScore=2.8100;MQ=59.77;MQ0=0;MQRankSum=0.730;QD=10.95;ReadPosRankSum=-0.280;VQSLOD=5.1060;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,50:108:99:1212,0,1681 1 19433449 19433449 A G exonic UBR4 synonymous SNV UBR4:NM_020765:exon82:c.T12117C:p.V4039V 0.72 0.84 0.73 0.81 0.61 0.57 0.6461 0.8057 0.8138 0.8107 0.5322 0.6048 0.5766 0.5574 0.67 0.81 0.6 0.7 0.6 rs6426677 COSM4783664;COSM3750719;COSM3750720;COSM5827655 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6452 0.8027 0.7925 0.5715 0.8143 0.5236 0.6104 0.6202 0.5529 0.6702 0.8089 0.7902 0.5695 0.8015 0.5284 0.6078 0.6066 het 517.01 46 1 19433449 . A G 517.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.125;DP=46;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6421;MQ=60.00;MQ0=0;MQRankSum=-0.221;QD=11.24;ReadPosRankSum=0.287;VQSLOD=6.1963;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:25,21:46:99:547,0,741 1 19447843 19447843 C G exonic UBR4 synonymous SNV UBR4:NM_020765:exon68:c.G9981C:p.L3327L 0.6 0.54 0.68 0.76 0.58 0.48 0.5831 0.5492 0.7736 0.7611 0.5056 0.5682 0.5366 0.4715 0.56 0.55 0.57 0.62 0.47 rs1044010 COSM5827658;COSM4783706;COSM3750721;COSM1337405 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5888 0.5422 0.7551 0.5497 0.7631 0.5019 0.5733 0.5718 0.4673 0.5701 0.5401 0.7321 0.5497 0.7488 0.5077 0.5752 0.5553 het 1516.41 112 1 19447843 . C G 1516.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.640;DP=112;Dels=0.00;FS=8.855;HRun=0;HaplotypeScore=3.5553;MQ=58.63;MQ0=0;MQRankSum=0.017;QD=13.54;ReadPosRankSum=0.320;VQSLOD=4.5542;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1546,0,1685 1 19499560 19499560 T C exonic UBR4 nonsynonymous SNV UBR4:NM_020765:exon25:c.A3319G:p.T1107A 0.14 0.28 0.17 0.011 0.16 0.031 0.1445 0.2545 0.2150 0.0087 0.1192 0.1586 0.1509 0.0496 0.19 0.25 0.16 0.18 0.16 rs16862578 COSM4778190;COSM146428;COSM4778191;COSM3927619 1(stomach);6(prostate) . . . . . . . . . . . 0.13 0.267 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 0.301 0.334 P 0.55 0.145 N 0.96 0.429 T -0.65 0.189 N 0.077 0.134 -1.025 0.221 T 0.000 0.000 T . . . 0.545 0.146 7.768 0.988 0.458 0.977 0.762 D c -0.257 -0.013 0.954 0.281 0.707 0.730 0 4.82 0.615 4.706 0.613 1.061 0.807 1.000 0.715 0.995 0.604 6.841 0.230 . ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10|ENSG00000127481.10 Adipose_Subcutaneous|Artery_Aorta|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Testis 0.1464 0.2508 0.2107 0.2157 0.0080 0.1234 0.1580 0.1588 0.0524 0.1745 0.2559 0.2208 0.2285 0.0068 0.1180 0.1567 0.1446 het 1344.99 91 1 19499560 . T C 1344.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.101;DP=91;Dels=0.00;FS=0.783;HRun=0;HaplotypeScore=1.7219;MQ=58.92;MQ0=0;MQRankSum=1.991;QD=14.78;ReadPosRankSum=-0.266;VQSLOD=6.0240;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,48:91:99:1375,0,1103 1 19566881 19566881 C T exonic EMC1 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 0.086 0.11 0.15 0.001 0.17 0.022 0.1278 0.1094 0.1886 0.0010 0.1181 0.1585 0.1347 0.0425 0.14 0.11 0.16 0.15 0.12 rs12084825 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1324 0.1018 0.1911 0.2091 0.0010 0.1211 0.1581 0.1449 0.0452 0.1311 0.1057 0.2029 0.2219 0.0012 0.1168 0.1573 0.1337 het 1800.83 137 1 19566881 . C T 1800.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.418;DP=137;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1361;MQ=59.07;MQ0=0;MQRankSum=-0.158;QD=13.14;ReadPosRankSum=-0.769;VQSLOD=5.7004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:61,76:137:99:1831,0,1506 1 19595137 19595137 C T exonic AKR7L unknown UNKNOWN 0.67 0.4 0.73 0.8 0.69 0.81 0.6876 0.4364 0.7562 0.7769 0.7591 0.6719 0.6965 0.7847 0.59 0.44 0.67 0.49 0.63 rs2235795 . . . . . . . . . . . . . . . . 0.003 0.102 B 0.011 0.145 B 0.039 0.242 N 1 0.090 P . . . . . . . . . 0.312 0.373 -1.041 0.169 T 0.000 0.000 T . . . 0.730 0.164 9.025 0.962 0.285 0.039 0.091 N c -1.316 -1.436 0.474 0.207 0.208 0.033 0 -4.47 0.033 -0.273 0.085 -0.603 0.044 0.000 0.063 0.000 0.016 7.771 0.280 NADP-dependent oxidoreductase domain ENSG00000053372.4|ENSG00000053372.4 Esophagus_Mucosa|Muscle_Skeletal 0.6932 0.4359 0.7480 0.6172 0.7733 0.7604 0.6690 0.6915 0.7800 0.6188 0.4293 0.7117 0.6358 0.7813 0.7611 0.6681 0.6922 het 1475.17 121 1 19595137 . C T 1475.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.649;DP=121;Dels=0.00;FS=4.550;HRun=0;HaplotypeScore=3.9944;MQ=59.26;MQ0=0;MQRankSum=-0.569;QD=12.19;ReadPosRankSum=1.550;VQSLOD=4.2551;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,64:121:99:1505,0,1419 1 19611227 19611227 G A exonic AKR7A3 synonymous SNV AKR7A3:NM_012067:exon5:c.C657T:p.P219P 0.15 0.13 0.14 0.026 0.18 0.27 0.1678 0.1322 0.0860 0.0124 0.1653 0.1818 0.1971 0.2720 0.17 0.13 0.18 0.087 0.18 rs1065658 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1643 0.1266 0.0928 0.2136 0.0114 0.1614 0.1801 0.1802 0.2726 0.1461 0.1231 0.1079 0.22 0.0111 0.1666 0.1694 0.1534 het 2210 176 1 19611227 . G A 2210 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.113;DP=176;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.7906;MQ=59.24;MQ0=0;MQRankSum=-0.124;QD=12.56;ReadPosRankSum=0.610;VQSLOD=4.1662;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,88:176:99:2240,0,2195 1 19611241 19611241 T C exonic AKR7A3 nonsynonymous SNV AKR7A3:NM_012067:exon5:c.A643G:p.N215D 0.81 0.64 0.86 0.85 0.86 0.9 0.8247 0.6594 0.8398 0.8202 0.8638 0.8320 0.8194 0.8752 0.77 0.66 0.83 0.71 0.8 rs1738023 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.843 N 1.000 0.090 P . . . 1.89 0.237 T 2.58 0.002 N 0.009 0.001 -0.957 0.397 T 0.000 0.000 T . . . -0.428 0.060 0.332 0.370 0.024 0.024 0.067 N c -0.993 -0.910 0.011 0.122 0.554 0.283 0 3.02 0.338 0.857 0.273 -0.153 0.108 1.000 0.715 0.919 0.394 8.979 0.349 NADP-dependent oxidoreductase domain . . 0.8264 0.6531 0.8380 0.7790 0.8180 0.8648 0.8320 0.8280 0.8713 0.7817 0.6489 0.8210 0.7833 0.8249 0.8694 0.8275 0.8330 het 2039.63 166 1 19611241 . T C 2039.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.651;DP=166;Dels=0.00;FS=0.573;HRun=1;HaplotypeScore=5.8570;MQ=59.35;MQ0=0;MQRankSum=-0.296;QD=12.29;ReadPosRankSum=-0.887;VQSLOD=5.0563;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:82,84:166:99:2070,0,2097 1 19652063 19652063 G A exonic PQLC2 synonymous SNV PQLC2:NM_001040125:exon4:c.G369A:p.T123T,PQLC2:NM_001040126:exon4:c.G174A:p.T58T,PQLC2:NM_001287531:exon4:c.G36A:p.T12T,PQLC2:NM_017765:exon5:c.G369A:p.T123T 0.21 0.16 0.18 0.083 0.29 0.33 0.2477 0.1853 0.1165 0.0817 0.2678 0.2819 0.2761 0.3183 0.25 0.18 0.29 0.22 0.3 rs11558390 COSM3750722 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2423 0.1840 0.1277 0.2586 0.0797 0.2650 0.2832 0.2441 0.3171 0.2343 0.1782 0.1566 0.3013 0.0983 0.2707 0.2746 0.2598 het 777.46 67 1 19652063 . G A 777.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.505;DP=67;Dels=0.00;FS=3.821;HRun=0;HaplotypeScore=3.4742;MQ=58.04;MQ0=0;MQRankSum=-1.041;QD=11.60;ReadPosRankSum=0.450;VQSLOD=4.3868;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:35,31:67:99:807,0,968 1 19950062 19950062 T C exonic MINOS1 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 0.35 0.7 0.2 0.14 0.23 0.29 0.2465 0.6529 0.1507 0.1741 0.2516 0.2090 0.2104 0.2473 0.35 0.65 0.2 0.4 0.19 rs1737428 COSM3997128 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2340 0.6575 0.1600 0.1587 0.1765 0.2451 0.2087 0.2171 0.2474 0.3357 0.6542 0.1770 0.1258 0.1921 0.2342 0.2091 0.2387 het 1583.38 138 1 19950062 . T C 1583.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.403;DP=138;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7840;MQ=59.39;MQ0=0;MQRankSum=-0.128;QD=11.47;ReadPosRankSum=-3.223;VQSLOD=4.4578;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:75,63:138:99:1613,0,2153 1 20005822 20005822 C T exonic HTR6 synonymous SNV HTR6:NM_000871:exon3:c.C1284T:p.P428P 0.011 0.0008 0.0043 0.016 0.007 0.027 0.0137 0.0049 0.0071 0.0223 0.0095 0.0104 0.0152 0.0344 0.0069 0.0029 0.0088 0.011 0.0082 rs8192534 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0118 0.0034 0.0070 0.0037 0.0184 0.0086 0.0105 0.0086 0.0267 0.0088 0.0036 0.0119 0.0066 0.0185 0.0086 0.0108 0.0061 het 191.54 19 1 20005822 . C T 191.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.857;DP=19;Dels=0.00;FS=1.952;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.286;QD=10.08;ReadPosRankSum=-1.347;VQSLOD=5.7803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:9,10:19:99:222,0,201 1 20020993 20020993 A G exonic TMCO4 synonymous SNV TMCO4:NM_001349112:exon14:c.T1434C:p.R478R,TMCO4:NM_001349113:exon15:c.T1434C:p.R478R,TMCO4:NM_181719:exon15:c.T1434C:p.R478R,TMCO4:NM_001349114:exon16:c.T1434C:p.R478R 0.66 0.53 0.68 0.58 0.8 0.76 0.7615 0.5714 0.6241 0.6000 0.8413 0.8203 0.7987 0.7906 0.73 0.57 0.81 0.2 0.53 rs4370779 COSM3997130 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7590 0.5706 0.6309 0.7775 0.5867 0.8495 0.8210 0.7702 0.7902 0.7392 0.5708 0.6519 0.7881 0.5954 0.8523 0.8252 0.8184 hom 6197.72 217 1 20020993 . A G 6197.72 Mask AC=2;AF=1.00;AN=2;DP=217;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=59.69;MQ0=0;QD=28.56;VQSLOD=6.2904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,217:217:99:6196,526,0 1 20020994 20020994 C T exonic TMCO4 nonsynonymous SNV TMCO4:NM_001349112:exon14:c.G1433A:p.R478H,TMCO4:NM_001349113:exon15:c.G1433A:p.R478H,TMCO4:NM_181719:exon15:c.G1433A:p.R478H,TMCO4:NM_001349114:exon16:c.G1433A:p.R478H 0.43 0.19 0.54 0.28 0.67 0.59 0.5734 0.2555 0.4925 0.2687 0.7067 0.6521 0.6308 0.6150 0.51 0.26 0.64 . 0.5 rs4515815 COSM4415151 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.194 0.208 T 0.006 0.322 B 0.004 0.208 B 0.848 0.070 N 1.000 0.182 P 1.055 0.270 L 0.84 0.475 T -0.19 0.100 N 0.059 0.043 -0.960 0.393 T 0.000 0.000 T . . . 0.629 0.154 8.358 0.925 0.213 0.016 0.051 N c -1.361 -1.440 0.868 0.253 0.707 0.730 0 -3.89 0.039 -0.026 0.122 -0.346 0.071 0.010 0.182 0.031 0.148 11.943 0.520 . ENSG00000158748.3 Whole_Blood 0.5761 0.2492 0.4953 0.5891 0.2691 0.7121 0.6533 0.5989 0.6125 0.5065 0.2468 0.5132 0.6126 0.2751 0.6972 0.6274 0.6391 het 2665.54 220 1 20020994 . C T 2665.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.251;DP=220;Dels=0.00;FS=1.811;HRun=0;HaplotypeScore=0.9993;MQ=59.70;MQ0=0;MQRankSum=-0.874;QD=12.12;ReadPosRankSum=-0.563;VQSLOD=6.2414;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:110,110:220:99:2696,0,2808 1 20246876 20246876 C T exonic PLA2G2E nonsynonymous SNV PLA2G2E:NM_014589:exon4:c.G353A:p.R118H 0.094 0.087 0.043 0.15 0.088 0.081 0.0936 0.0871 0.0486 0.1513 0.1011 0.0987 0.0850 0.0758 0.089 0.084 0.091 0.087 0.066 rs61729970 . . . . . . . . . . . . . 0.211 0.195 T 0.003 0.102 B 0.014 0.158 B 0.224 0.035 N 1 0.090 P 0.77 0.194 N 1.64 0.278 T -1.77 0.418 N 0.023 0.007 -1.058 0.121 T 0.000 0.002 T . . . 1.478 0.240 13.20 0.944 0.241 0.004 0.019 N c -1.301 -1.372 1.000 0.517 0.428 0.059 0 -7.18 0.013 -0.744 0.049 -0.264 0.087 0.000 0.063 0.834 0.348 16.572 0.844 Phospholipase A2 domain . . 0.0901 0.0865 0.0497 0.0911 0.1544 0.0988 0.0950 0.0861 0.0765 0.1010 0.0858 0.0609 0.1192 0.1634 0.1043 0.1041 0.1039 het 1021.19 74 1 20246876 . C T 1021.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.582;DP=74;Dels=0.00;FS=3.412;HRun=0;HaplotypeScore=4.3302;MQ=59.44;MQ0=0;MQRankSum=-0.371;QD=13.80;ReadPosRankSum=1.746;VQSLOD=4.8233;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,40:74:99:1051,0,827 1 20304926 20304926 G A exonic PLA2G2A 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 0.11 0.097 0.11 0.027 0.21 0.095 0.1848 0.0998 0.0790 0.0305 0.2552 0.2481 0.1727 0.1193 0.17 0.099 0.21 0.13 0.3 rs4744 COSM1132970 1(liver);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1768 0.1028 0.0899 0.1326 0.0300 0.2466 0.2425 0.1830 0.1203 0.1989 0.1061 0.1050 0.1291 0.0321 0.2477 0.2623 0.2587 het 729.14 63 1 20304926 . G A 729.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.929;DP=63;Dels=0.00;FS=1.156;HRun=0;HaplotypeScore=3.5716;MQ=58.89;MQ0=0;MQRankSum=-1.517;QD=11.57;ReadPosRankSum=0.490;VQSLOD=5.4607;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,28:63:99:759,0,657 1 20411332 20411332 C T exonic PLA2G5 synonymous SNV PLA2G5:NM_000929:exon2:c.C9T:p.G3G 0.25 0.095 0.26 0.31 0.34 0.31 0.3298 0.1250 0.2351 0.3062 0.4152 0.3696 0.3689 0.3399 0.27 0.13 0.35 0.2 0.37 rs2020887 COSM146435 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3263 0.1196 0.2312 0.3638 0.3088 0.4156 0.3601 0.3518 0.3391 0.2998 0.1142 0.2464 0.3733 0.3288 0.4156 0.3732 0.3996 het 1965.19 195 1 20411332 . C T 1965.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.649;DP=195;Dels=0.00;FS=0.546;HRun=0;HaplotypeScore=4.4223;MQ=59.38;MQ0=0;MQRankSum=1.067;QD=10.08;ReadPosRankSum=-0.112;VQSLOD=5.8959;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,86:195:99:1995,0,2844 1 20442054 20442054 T C exonic PLA2G2D nonsynonymous SNV PLA2G2D:NM_012400:exon3:c.A238G:p.S80G 0.77 0.97 0.7 0.76 0.59 0.75 0.6607 0.9161 0.6828 0.7723 0.5920 0.5855 0.6498 0.7579 0.69 0.9 0.58 0.79 0.63 rs584367 COSM3750787 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.864 0.026 T 0.0 0.026 B 0.0 0.013 B 0.017 0.015 N 1 0.090 P 0.105 0.085 N 1.68 0.272 T 1.49 0.007 N 0.035 0.016 -0.975 0.362 T 0.000 0.000 T . . . -2.310 0.005 0.001 0.456 0.035 0.034 0.085 N c -1.922 -1.919 0.909 0.263 0.526 0.212 0 -4.38 0.034 -1.315 0.028 -2.592 0.002 0.000 0.063 0.000 0.016 1.181 0.017 Phospholipase A2 domain . . 0.6573 0.9203 0.6853 0.5957 0.7753 0.5933 0.5853 0.6484 0.7586 0.6942 0.9226 0.6718 0.5960 0.7825 0.6002 0.5829 0.5941 het 1241.80 123 1 20442054 . T C 1241.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.522;DP=123;Dels=0.00;FS=0.677;HRun=1;HaplotypeScore=3.8074;MQ=58.08;MQ0=0;MQRankSum=0.973;QD=10.10;ReadPosRankSum=-0.368;VQSLOD=5.4583;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,56:123:99:1272,0,1743 1 20490518 20490518 T C exonic PLA2G2C nonsynonymous SNV PLA2G2C:NM_001316722:exon4:c.A410G:p.Q137R 0.66 0.75 0.49 0.73 0.58 0.67 0.6079 0.7306 0.4106 0.7346 0.5347 0.5909 0.5833 0.7010 0.64 0.72 0.59 0.66 . rs6426616 COSM3746742 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.911 0.024 T 0.0 0.026 B 0.001 0.040 B 0.051 0.020 N 1 0.090 P -1.76 0.003 N 1.73 0.264 T 1.21 0.011 N 0.021 0.011 -0.948 0.414 T 0.000 0.000 T . . . -0.753 0.042 0.055 0.560 0.053 0.018 0.055 N c -1.008 -0.815 0.001 0.085 0.487 0.133 0 3.36 0.374 0.116 0.153 -0.384 0.065 0.991 0.370 0.009 0.108 5.563 0.163 Phospholipase A2 domain ENSG00000227066.1 Artery_Coronary 0.5902 0.7238 0.4101 0.6186 0.7280 0.5280 0.5855 0.5765 0.6988 0.6183 0.7183 0.4678 0.6192 0.7255 0.5306 0.5803 0.5724 hom 994.34 33 1 20490518 . T C 994.34 Mask AC=2;AF=1.00;AN=2;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.86;MQ0=0;QD=30.13;VQSLOD=9.2598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,33:33:81.25:1027,81,0 1 20915701 20915701 A C exonic CDA nonsynonymous SNV CDA:NM_001785:exon1:c.A79C:p.K27Q 0.19 0.067 0.31 0.12 0.31 0.23 0.2758 0.0914 0.2784 0.1253 0.2044 0.3427 0.2671 0.2272 0.26 0.1 0.35 0.17 0.27 rs2072671 COSM3750847 1(breast);2(haematopoietic_and_lymphoid_tissue);7(soft_tissue);1(skin);1(large_intestine) . . . . . . . . . . . 0.308 0.141 T 0.004 0.112 B 0.005 0.104 B 0.001 0.394 N 0.000 0.489 P 1.17 0.299 L 0.98 0.421 T -0.29 0.117 N 0.164 0.238 -0.964 0.384 T 0.000 0.000 T . . . 1.907 0.290 15.63 0.972 0.322 0.532 0.291 D c -0.293 -0.089 1.000 0.747 0.726 0.872 0 3.98 0.452 1.373 0.337 1.199 0.960 0.999 0.424 1.000 0.888 7.795 0.281 Cytidine and deoxycytidylate deaminases\x2c zinc-binding|Cytidine deaminase-like ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158828.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5|ENSG00000158825.5 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Atrial_Appendage|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Whole_Blood 0.2798 0.0846 0.2882 0.4322 0.1202 0.1995 0.3454 0.3038 0.2252 0.2258 0.0870 0.2852 0.4172 0.1222 0.1911 0.3161 0.2710 het 757.65 82 1 20915701 . A C 757.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.119;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.44;MQ0=0;MQRankSum=-0.440;QD=9.24;ReadPosRankSum=-0.622;VQSLOD=6.7718;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,31:82:99:788,0,1360 1 20945055 20945055 C T exonic CDA synonymous SNV CDA:NM_001785:exon4:c.C435T:p.T145T 0.31 0.38 0.32 0.24 0.32 0.27 0.3088 0.3883 0.2973 0.2393 0.3271 0.3166 0.2777 0.2660 0.34 0.4 0.31 0.43 0.33 rs1048977 COSM146436 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3069 0.3868 0.3078 0.2422 0.2387 0.3225 0.3207 0.2993 0.2651 0.3364 0.3875 0.3278 0.2053 0.2466 0.3072 0.3275 0.3189 het 771.89 64 1 20945055 . C T 771.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.366;DP=64;Dels=0.00;FS=0.955;HRun=0;HaplotypeScore=1.8664;MQ=59.12;MQ0=0;MQRankSum=-0.383;QD=12.06;ReadPosRankSum=-0.881;VQSLOD=6.5890;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,30:64:99:802,0,948 1 20972111 20972111 G A exonic PINK1 nonsynonymous SNV PINK1:NM_032409:exon5:c.G1018A:p.A340T 0.12 0.011 0.058 0.27 0.046 0.24 0.0921 0.0172 0.1044 0.2733 0.0905 0.0469 0.0916 0.2191 0.037 0.018 0.047 0.043 0.11 rs3738136 . . Likely benign Parkinson_Disease\x2c_Recessive RCV000322826.1 MedGen CN239372 . . . . . . 1.0 0.010 T 0.001 0.090 B 0.001 0.063 B 0.000 0.443 N 1 0.090 P 0.425 0.126 N -0.82 0.741 T 1.34 0.009 N 0.114 0.124 -1.075 0.084 T 0.000 0.000 T . . . 0.341 0.127 6.083 0.759 0.109 0.215 0.212 N c -0.991 -0.827 0.440 0.204 0.707 0.730 0 2.4 0.284 1.029 0.295 0.235 0.261 0.999 0.424 0.003 0.074 4.692 0.121 Protein kinase domain|Protein kinase-like domain . . 0.0923 0.0161 0.0997 0.0368 0.2649 0.0927 0.0454 0.0738 0.2163 0.0557 0.0142 0.0979 0.0530 0.2652 0.0932 0.0442 0.0878 het 1262.33 86 1 20972111 . G A 1262.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.307;DP=86;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8874;MQ=57.05;MQ0=0;MQRankSum=-0.879;QD=14.68;ReadPosRankSum=0.628;VQSLOD=4.0622;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,46:86:99:1292,0,977 1 20977000 20977000 A C exonic PINK1 nonsynonymous SNV PINK1:NM_032409:exon8:c.A1562C:p.N521T 0.3 0.25 0.19 0.36 0.29 0.4 0.2974 0.2679 0.2290 0.3596 0.3665 0.2795 0.2907 0.3763 0.27 0.27 0.27 0.26 0.37 rs1043424 . . Likely benign|Likely benign Congenital_disorder_of_glycosylation|Parkinson_Disease\x2c_Recessive RCV000362537.1|RCV000408170.1 MedGen:Orphanet:SNOMED_CT|MedGen C0282577:ORPHA137:238049009|CN239372 . . . . . . 0.247 0.173 T 0.004 0.174 B 0.005 0.112 B 0.169 0.174 N 1 0.090 P 1.67 0.430 L -0.81 0.740 T -0.94 0.251 N 0.078 0.069 -1.033 0.195 T 0.000 0.000 T . . . 1.699 0.265 14.40 0.982 0.390 0.232 0.218 N c -0.672 -0.607 0.070 0.155 0.672 0.522 0 1.55 0.222 0.617 0.239 1.140 0.893 0.224 0.244 0.999 0.750 7.400 0.260 . . . 0.2930 0.2671 0.2323 0.1937 0.3526 0.3694 0.2780 0.2691 0.3742 0.2873 0.2556 0.2518 0.2152 0.3585 0.3655 0.2813 0.3180 het 1003.44 83 1 20977000 . A C 1003.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.770;DP=83;Dels=0.00;FS=4.981;HRun=0;HaplotypeScore=1.7882;MQ=59.19;MQ0=0;MQRankSum=-0.512;QD=12.09;ReadPosRankSum=-0.263;VQSLOD=5.9103;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:48,35:83:99:1033,0,1347 1 20987873 20987873 G C exonic DDOST nonsynonymous SNV DDOST:NM_005216:exon1:c.C22G:p.R8G 0.97 0.9 0.99 1. 1. 1. 0.9925 0.9175 0.9950 1 1 0.9996 0.9940 1 0.97 0.93 1. 0.96 0.72 rs537816 COSM3750850 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.449 N 1 0.090 P 0 0.065 N 0.72 0.510 T 0.01 0.069 N 0.205 0.258 -0.922 0.452 T 0.000 0.000 T . . . 2.284 0.336 18.06 0.909 0.195 0.080 0.138 N c -0.955 -0.793 1.0 0.983 0.442 0.072 0 3.4 0.379 -0.184 0.096 0.067 0.174 0.000 0.063 0.148 0.204 5.342 0.152 . ENSG00000244038.5 Muscle_Skeletal 0.9941 0.9186 0.9945 0.9998 0.9999 1 0.9997 0.9961 1.0000 0.9772 0.9206 0.9928 1 1 1 0.9998 0.9969 hom 715.64 21 1 20987873 . G C 715.64 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.08;VQSLOD=12.9095;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:57.19:749,57,0 1 21024901 21024901 C T exonic KIF17 nonsynonymous SNV KIF17:NM_001122819:exon6:c.G1204A:p.V402M,KIF17:NM_001287212:exon6:c.G904A:p.V302M,KIF17:NM_020816:exon6:c.G1204A:p.V402M 0.6 0.45 0.72 0.65 0.69 0.57 0.6210 0.4918 0.6605 0.6299 0.6702 0.6411 0.6116 0.5700 0.59 0.5 0.64 0.54 0.64 rs522496 COSM1338584 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine) . . . . . . . . . . . 0.794 0.050 T 0.006 0.126 B 0.008 0.127 B 0.914 0.085 N 1 0.090 P 0 0.065 N -0.64 0.721 T 0.15 0.053 N 0.035 0.015 -0.918 0.458 T 0.000 0.000 T . . . 0.859 0.176 9.821 0.703 0.090 0.011 0.041 N c -1.199 -1.129 1.000 0.489 0.626 0.397 0 2.87 0.324 0.127 0.155 0.090 0.195 0.017 0.192 0.064 0.173 7.644 0.273 . . . 0.6278 0.4868 0.6649 0.6877 0.6291 0.6781 0.6358 0.6298 0.5722 0.5999 0.4792 0.6487 0.6921 0.6170 0.6683 0.6447 0.6469 hom 2345.35 78 1 21024901 . C T 2345.35 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9940;MQ=58.78;MQ0=0;QD=30.07;VQSLOD=9.0026;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2378,187,0 1 21036265 21036265 C T exonic KIF17 synonymous SNV KIF17:NM_001122819:exon4:c.G537A:p.V179V,KIF17:NM_001287212:exon4:c.G237A:p.V79V,KIF17:NM_020816:exon4:c.G537A:p.V179V 0.0054 0.0015 0.01 . 0.014 0.0041 0.0130 0.0037 0.0097 0.0002 0.0088 0.0186 0.0113 0.0067 0.014 0.0048 0.019 0.011 0.049 rs33996125 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0127 0.0031 0.0105 0.0080 0.0001 0.0089 0.0196 0.0128 0.0063 0.0106 0.0018 0.0072 0.0033 0.0006 0.0109 0.0170 0.0112 het 1612.53 115 1 21036265 . C T 1612.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.411;DP=115;Dels=0.00;FS=7.521;HRun=0;HaplotypeScore=1.8245;MQ=60.00;MQ0=0;MQRankSum=-0.484;QD=14.02;ReadPosRankSum=1.200;VQSLOD=3.8246;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,58:115:99:1643,0,1588 1 21042033 21042033 T C exonic KIF17 nonsynonymous SNV KIF17:NM_001122819:exon2:c.A331G:p.R111G,KIF17:NM_001287212:exon2:c.A31G:p.R11G,KIF17:NM_020816:exon2:c.A331G:p.R111G 0.0066 0.0015 0.0058 . 0.025 0.002 0.0136 0.0021 0.0035 0 0.0403 0.0188 0.0122 0.0036 0.011 0.0023 0.016 0.011 0.0082 rs35835983 COSM3360618 1(kidney) . . . . . . . . . . . 0.002 0.721 D 0.944 0.585 P 0.596 0.550 P 0.069 0.216 U 0.989 0.409 D 2.465 0.718 M -0.94 0.753 T -5.27 0.841 D 0.254 0.310 -0.394 0.723 T 0.251 0.621 T . . . 3.942 0.531 23.5 0.994 0.613 0.772 0.376 D c 0.126 -0.039 1.000 0.747 0.696 0.567 0 2.27 0.274 0.718 0.254 0.085 0.192 0.631 0.278 0.751 0.322 6.448 0.210 Kinesin motor domain|P-loop containing nucleoside triphosphate hydrolase . . 0.0134 0.0017 0.0050 0.0001 0 0.0429 0.0174 0.0150 0.0038 0.0146 0.0029 0.0036 0 0 0.0430 0.0167 0.0234 het 1921.13 137 1 21042033 . T C 1921.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.303;DP=137;Dels=0.00;FS=0.640;HRun=1;HaplotypeScore=3.8587;MQ=59.18;MQ0=0;MQRankSum=1.291;QD=14.02;ReadPosRankSum=-0.694;VQSLOD=5.3310;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,71:137:99:1951,0,1846 1 21042115 21042115 G A exonic KIF17 synonymous SNV KIF17:NM_001122819:exon2:c.C249T:p.Y83Y,KIF17:NM_020816:exon2:c.C249T:p.Y83Y 0.01 0.0023 0.013 . 0.036 0.0031 0.0219 0.0046 0.0063 0 0.0642 0.0299 0.0188 0.0062 0.019 0.0059 0.026 0.022 0.0082 rs34126615 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0222 0.0042 0.0087 0.0159 0 0.0641 0.0287 0.0235 0.0067 0.0240 0.0047 0.0072 0.0132 0 0.0670 0.0281 0.0378 het 1362.85 115 1 21042115 . G A 1362.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.654;DP=115;Dels=0.00;FS=0.751;HRun=0;HaplotypeScore=4.4891;MQ=59.60;MQ0=0;MQRankSum=-0.985;QD=11.85;ReadPosRankSum=0.188;VQSLOD=4.7688;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,53:115:99:1393,0,1700 1 21044161 21044161 A G exonic KIF17 synonymous SNV KIF17:NM_001122819:exon1:c.T39C:p.R13R,KIF17:NM_020816:exon1:c.T39C:p.R13R 0.71 0.6 0.62 0.89 0.72 0.74 0.7131 0.6303 0.6859 0.9048 0.7202 0.6954 0.6725 0.7393 0.67 0.63 0.69 0.46 0.48 rs601329 COSM3746771 1(liver);16(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7065 0.6121 0.6785 0.5592 0.9020 0.7176 0.7000 0.6855 0.7362 0.7003 0.6220 0.6542 0.5333 0.8965 0.7287 0.7224 0.7195 hom 1131.07 34 1 21044161 . A G 1131.07 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.27;VQSLOD=13.5182;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:90.28:1164,90,0 1 21050958 21050958 C T exonic SH2D5 synonymous SNV SH2D5:NM_001103160:exon5:c.G309A:p.Q103Q,SH2D5:NM_001103161:exon6:c.G561A:p.Q187Q 0.88 0.98 0.76 0.98 0.77 0.83 0.8054 0.9604 0.7693 0.9932 0.7566 0.7627 0.7717 0.8332 0.82 0.96 0.76 0.95 0.66 rs592060 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7991 0.9611 0.7719 0.7319 0.9925 0.7606 0.7608 0.7767 0.8309 0.8342 0.9606 0.7524 0.7318 0.9907 0.7519 0.7719 0.7943 hom 1155.91 38 1 21050958 . C T 1155.91 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8321;MQ=59.39;MQ0=0;QD=30.42;VQSLOD=9.2606;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:96.27:1189,96,0 1 21071419 21071419 G A exonic HP1BP3 synonymous SNV HP1BP3:NM_016287:exon13:c.C1533T:p.P511P 0.013 0.0023 0.02 . 0.042 0.0072 0.0295 0.0067 0.0122 0 0.0659 0.0406 0.0220 0.0125 0.028 0.0098 0.037 0.022 0.033 rs17448349 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0296 0.0059 0.0141 0.0250 0 0.0655 0.0398 0.0317 0.0128 0.0297 0.0064 0.0107 0.0199 0 0.0696 0.0375 0.0449 hom 2512.74 73 1 21071419 . G A 2512.74 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=59.37;MQ0=0;QD=34.42;VQSLOD=9.5603;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:2546,199,0 1 21076274 21076274 G A exonic HP1BP3 synonymous SNV HP1BP3:NM_016287:exon10:c.C1083T:p.T361T 0.013 0.0023 0.02 . 0.042 0.0072 0.0296 0.0067 0.0124 0 0.0659 0.0407 0.0221 0.0126 0.028 0.0098 0.037 0.022 0.033 rs12729575 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0297 0.0059 0.0148 0.0251 0 0.0655 0.0399 0.0317 0.0128 0.0298 0.0064 0.0119 0.0199 0 0.0693 0.0376 0.0449 hom 4242.56 136 1 21076274 . G A 4242.56 Mask AC=2;AF=1.00;AN=2;DP=136;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.04;MQ0=0;QD=31.20;VQSLOD=9.6947;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,136:136:99:4242,331,0 1 21167404 21167404 A G exonic EIF4G3 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 0.94 0.78 0.98 1. 1. 1. 0.9831 0.8149 0.9914 1 1 0.9997 0.9945 0.9999 0.94 0.81 1. 0.95 0.98 rs2230573 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9863 0.8078 0.9896 1 1 1 0.9997 0.9907 0.9996 0.9425 0.7985 0.9881 1 1 1 0.9997 0.9888 hom 3371.50 103 1 21167404 . A G 3371.50 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.55;MQ0=0;QD=32.73;VQSLOD=9.2273;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3371,265,0 1 21560080 21560080 A G exonic ECE1 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 0.14 0.45 0.065 0.004 0.047 0.026 0.0646 0.3800 0.0314 0.0035 0.0655 0.0398 0.0420 0.0228 0.15 0.37 0.035 0.12 0.066 rs2228321 . . Benign not_specified RCV000242717.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0582 0.3887 0.0359 0.0389 0.0030 0.0656 0.0385 0.0542 0.0225 0.1382 0.3900 0.0406 0.0265 0.0037 0.0691 0.0354 0.0634 het 768.79 76 1 21560080 . A G 768.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.119;DP=76;Dels=0.00;FS=1.951;HRun=1;HaplotypeScore=2.6203;MQ=58.55;MQ0=1;MQRankSum=1.205;QD=10.12;ReadPosRankSum=0.487;VQSLOD=6.1127;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,33:76:99:799,0,1150 1 21573722 21573722 G A exonic ECE1 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 0.15 0.014 0.27 0.13 0.25 0.15 0.2204 0.0526 0.2071 0.1339 0.2591 0.2684 0.2522 0.1696 0.2 0.057 0.27 0.12 0.29 rs2229450 COSM4143321;COSM4143320;COSM4143319 1(thyroid) Benign not_specified RCV000244888.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2224 0.0474 0.2117 0.2167 0.1329 0.2616 0.2698 0.2231 0.1730 0.2004 0.0484 0.2327 0.1788 0.1330 0.2657 0.2765 0.2490 het 1103.05 86 1 21573722 . G A 1103.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.524;DP=86;Dels=0.00;FS=1.847;HRun=0;HaplotypeScore=1.9940;MQ=58.44;MQ0=0;MQRankSum=0.497;QD=12.83;ReadPosRankSum=0.273;VQSLOD=5.8703;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,45:86:99:1133,0,978 1 21573855 21573855 G A exonic ECE1 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 0.029 0.0038 0.032 . 0.079 0.038 0.0555 0.0133 0.0187 0 0.0779 0.0774 0.0442 0.0398 0.055 0.015 0.075 0.033 0.074 rs1076669 . . Benign not_specified RCV000253112.1 MedGen CN169374 . . . . . . 0.168 0.302 T 0.04 0.198 B 0.063 0.256 B 0.142 0.182 N 1.000 0.189 N 1.81 0.478 L -0.81 0.740 T -2.03 0.496 N 0.118 0.130 -1.102 0.038 T 0.015 0.058 T . . . 2.616 0.376 20.3 0.994 0.649 0.201 0.207 N c -0.318 -0.189 0.999 0.387 0.707 0.730 0 4.56 0.555 2.288 0.429 0.953 0.551 0.989 0.365 0.939 0.413 7.444 0.262 Peptidase M13\x2c N-terminal domain . . 0.0547 0.0122 0.0244 0.0448 0.0002 0.0796 0.0783 0.0490 0.0398 0.0509 0.0128 0.0298 0.0397 0 0.0833 0.0718 0.0591 het 1358.57 116 1 21573855 . G A 1358.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.695;DP=116;Dels=0.00;FS=3.674;HRun=0;HaplotypeScore=5.8423;MQ=58.88;MQ0=0;MQRankSum=-0.232;QD=11.71;ReadPosRankSum=0.533;VQSLOD=5.0288;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:59,57:116:99:1389,0,1487 1 21795388 21795388 A G exonic NBPF3 nonsynonymous SNV NBPF3:NM_001256416:exon3:c.A341G:p.Y114C,NBPF3:NM_032264:exon3:c.A341G:p.Y114C,NBPF3:NM_001330381:exon7:c.A173G:p.Y58C 0.42 0.14 0.48 0.58 0.54 0.48 0.5182 0.2062 0.5494 0.5618 0.5360 0.5603 0.5606 0.4898 0.44 0.22 0.55 0.35 0.48 rs1827293 COSM425331;COSM3750874 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.008 0.586 D 1.0 0.899 D 0.998 0.875 D . . . 1 0.090 P 1.995 0.543 M 3.55 0.049 T -6.03 0.897 D 0.083 0.432 -0.903 0.477 T 0.000 0.000 T . . . 2.367 0.346 18.61 0.976 0.341 0.012 0.043 N c -0.490 -0.860 0.992 0.327 0.657 0.484 0 -2.16 0.066 0.172 0.164 0.360 0.273 0.001 0.137 0.000 0.016 1.989 0.032 . ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000176378.8|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000176378.8|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000176378.8|ENSG00000227001.2|ENSG00000142794.14|ENSG00000227001.2|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14|ENSG00000142794.14 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.5268 0.1962 0.5554 0.5769 0.5682 0.5430 0.5579 0.5603 0.4902 0.4614 0.2084 0.5431 0.5795 0.5749 0.5307 0.5657 0.5798 hom 4891.88 148 1 21795388 . A G 4891.88 Mask AC=2;AF=1.00;AN=2;DP=148;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.84;MQ0=0;QD=33.05;VQSLOD=9.8031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,148:148:99:4892,373,0 1 21889635 21889635 T C exonic ALPL 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 0.93 0.85 0.95 0.98 0.94 0.96 0.9450 0.8664 0.9735 0.9878 0.9318 0.9456 0.9502 0.9542 0.92 0.87 0.95 0.91 0.96 rs1780316 COSM3746801 1(liver) Benign not_specified RCV000178778.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9473 0.8639 0.9678 0.9772 0.9867 0.9376 0.9436 0.9522 0.9537 0.9266 0.8662 0.9678 0.9735 0.9864 0.9367 0.9495 0.9277 hom 4367.57 143 1 21889635 . T C 4367.57 Mask AC=2;AF=1.00;AN=2;DP=143;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9958;MQ=59.15;MQ0=0;QD=30.54;VQSLOD=9.1929;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,143:143:99:4367,355,0 1 21940555 21940555 C T exonic RAP1GAP 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,RAP1GAP:NM_001330383:exon9:c.G319A:p.A107T,RAP1GAP:NM_001350524:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350525:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350527:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350528:exon10:c.G319A:p.A107T,RAP1GAP:NM_001350526:exon11:c.G319A:p.A107T 0.39 0.36 0.28 0.42 0.44 0.43 0.4351 0.3814 0.2875 0.4109 0.4700 0.4708 0.4047 0.4247 0.43 0.37 0.46 0.4 0.46 rs2275363 . . . . . . . . . . . . . 0.508 0.088 T 0.001 0.067 B 0.001 0.063 B 0.247 0.156 N 1 0.090 P 1.79 0.469 L -3.27 0.936 D 0.42 0.034 N 0.037 0.137 -1.021 0.233 T 0.000 0.000 T . . . 2.331 0.341 18.37 0.967 0.304 0.030 0.078 N c -0.960 -0.921 0.992 0.328 0.706 0.609 0 -1.45 0.083 -1.826 0.018 -0.208 0.100 0.000 0.063 0.991 0.552 10.547 0.441 Rap GTPase activating protein domain . . 0.4087 0.3568 0.2748 0.4482 0.3950 0.4283 0.4520 0.3942 0.4092 0.4230 0.3641 0.2792 0.4533 0.3747 0.4493 0.4628 0.4388 hom 1445 44 1 21940555 . C T 1445 Mask AC=2;AF=1.00;AN=2;DP=44;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.48;MQ0=0;QD=32.84;VQSLOD=9.0979;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,44:44:99:1478,117,0 1 22149935 22149935 T C exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon97:c.A13053G:p.S4351S,HSPG2:NM_005529:exon97:c.A13050G:p.S4350S 0.78 0.68 0.75 0.82 0.83 0.85 0.8204 0.7297 0.7689 0.8206 0.8281 0.8389 0.8082 0.8304 0.79 0.72 0.83 0.73 0.44 rs897467 COSM3750884 1(thyroid);10(large_intestine) Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000302221.1|RCV000359351.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8081 0.7074 0.7491 0.8896 0.8181 0.8161 0.8247 0.8100 0.8263 0.7927 0.7179 0.7679 0.9139 0.8195 0.8199 0.8235 0.8289 hom 407.76 12 1 22149935 . T C 407.76 Mask AC=2;AF=1.00;AN=2;DP=12;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.43;MQ0=0;QD=33.98;VQSLOD=8.7282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,12:12:36.09:441,36,0 1 22154387 22154387 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon91:c.C12561T:p.S4187S,HSPG2:NM_005529:exon91:c.C12558T:p.S4186S 0.029 0.0015 0.023 . 0.04 0.09 0.0699 0.0116 0.0672 0 0.0590 0.0813 0.0816 0.1036 0.035 0.0086 0.049 0.022 0.025 rs11552570 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000311383.1|RCV000392517.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0408 0.0083 0.0219 0.0406 0.0001 0.0217 0.0488 0.0423 0.0853 0.0316 0.0087 0.0191 0.0331 0 0.0209 0.0505 0.0458 het 261.63 24 1 22154387 . G A 261.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.430;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=60.00;MQ0=0;MQRankSum=-1.025;QD=10.90;ReadPosRankSum=-1.259;VQSLOD=6.1354;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:14,10:24:99:292,0,346 1 22154845 22154845 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon89:c.T12315C:p.D4105D,HSPG2:NM_005529:exon89:c.T12312C:p.D4104D 0.26 0.12 0.22 0.16 0.32 0.51 0.2982 0.1360 0.1835 0.1607 0.3359 0.3143 0.2757 0.4733 0.25 0.15 0.31 0.23 0.27 rs2228347 COSM3746805 1(breast);1(liver) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000319755.1|RCV000353544.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2931 0.1324 0.1841 0.3414 0.1598 0.3269 0.3081 0.2821 0.4744 0.2493 0.1328 0.1969 0.3245 0.1421 0.3459 0.3015 0.3422 hom 3784.22 112 1 22154845 . A G 3784.22 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.021;DP=112;Dels=0.00;FS=4.890;HRun=0;HaplotypeScore=0.0000;MQ=59.24;MQ0=0;MQRankSum=-1.639;QD=33.79;ReadPosRankSum=-1.392;VQSLOD=4.0295;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,111:112:99:3749,269,0 1 22157545 22157545 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon85:c.C11604T:p.Y3868Y,HSPG2:NM_005529:exon85:c.C11601T:p.Y3867Y 0.029 0.0015 0.023 . 0.04 0.089 0.0693 0.0100 0.0547 0 0.0468 0.0795 0.0773 0.1024 0.034 0.0077 0.048 0.022 0.016 rs112494360 COSM1320466 1(ovary) Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000265105.1|RCV000359769.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0415 0.0069 0.0217 0.0401 0.0002 0.0212 0.0498 0.0409 0.0857 0.0310 0.0071 0.0203 0.0331 0 0.0206 0.0502 0.0459 het 139.03 13 1 22157545 . G A 139.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.101;DP=13;Dels=0.00;FS=5.756;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.101;QD=10.69;ReadPosRankSum=-0.377;VQSLOD=4.7916;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,6:13:99:169,0,209 1 22158157 22158157 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon82:c.T11343C:p.N3781N,HSPG2:NM_005529:exon82:c.T11340C:p.N3780N 0.083 0.17 0.052 . 0.067 0.093 0.0827 0.1823 0.0468 0 0.0435 0.0811 0.0657 0.0977 0.11 0.17 0.077 0.098 0.016 rs2229488 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000296602.1|RCV000351453.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0719 0.1753 0.0419 0.0632 0.0001 0.0402 0.0794 0.0750 0.0915 0.0933 0.1740 0.0359 0.0464 0.0006 0.0378 0.0752 0.0686 het 241.27 18 1 22158157 . A G 241.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.148;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9950;MQ=56.56;MQ0=0;MQRankSum=0.795;QD=13.40;ReadPosRankSum=-0.088;VQSLOD=3.4432;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:9,9:18:99:271,0,239 1 22159774 22159774 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon80:c.C11085T:p.P3695P,HSPG2:NM_005529:exon80:c.C11082T:p.P3694P 0.086 0.17 0.052 . 0.068 0.11 0.0792 0.1712 0.0372 0 0.0587 0.0772 0.0710 0.1091 0.11 0.17 0.077 0.098 0.049 rs2229486 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000304022.1|RCV000393030.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0755 0.1717 0.0411 0.0571 0.0002 0.0588 0.0795 0.0768 0.1110 0.0958 0.1744 0.0346 0.0397 0.0006 0.0599 0.0745 0.0786 het 1037.54 88 1 22159774 . G A 1037.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.638;DP=88;Dels=0.00;FS=5.874;HRun=0;HaplotypeScore=0.9992;MQ=59.15;MQ0=0;MQRankSum=2.068;QD=11.79;ReadPosRankSum=1.344;VQSLOD=4.6027;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,38:88:99:1068,0,1129 1 22160001 22160001 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon79:c.G10940A:p.R3647H,HSPG2:NM_005529:exon79:c.G10937A:p.R3646H 0.0006 . . . 0.002 0.001 0.0035 0.0004 0.0009 0 0.0040 0.0051 0.0078 0.0021 0.0034 0.0005 0.0049 . . rs112062179 . . Likely benign|Uncertain significance|Uncertain significance not_specified|Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000180084.1|RCV000310089.1|RCV000364726.1 MedGen|MedGen:OMIM:Orphanet|MedGen:Orphanet CN169374|C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.047 0.403 D 0.999 0.899 D 0.986 0.916 D 0.034 0.248 N 0.757 0.340 D 1.57 0.397 L -1.25 0.791 T -2.39 0.526 N 0.106 0.112 -0.101 0.801 T 0.460 0.791 T 0.149 0.831 D 3.695 0.501 23.3 0.998 0.927 0.583 0.303 D c 0.103 0.014 0.994 0.332 0.722 0.854 0 2.11 0.262 0.573 0.232 0.807 0.329 0.958 0.332 0.998 0.697 8.825 0.340 Concanavalin A-like lectin/glucanase domain|Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.0032 0.0005 0.0009 0.0027 0 0.0040 0.0049 0.0042 0.0018 0.0035 0.0006 0.0012 0 0 0.0052 0.0053 0.0041 het 933.64 72 1 22160001 . C T 933.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.471;DP=72;Dels=0.00;FS=6.518;HRun=0;HaplotypeScore=0.8667;MQ=59.16;MQ0=0;MQRankSum=0.812;QD=12.97;ReadPosRankSum=0.329;VQSLOD=4.7444;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,33:72:99:964,0,896 1 22160043 22160043 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon79:c.G10898A:p.R3633Q,HSPG2:NM_005529:exon79:c.G10895A:p.R3632Q 0.086 0.17 0.05 . 0.068 0.11 0.0795 0.1733 0.0372 0 0.0588 0.0774 0.0702 0.1091 0.11 0.17 0.077 0.098 0.049 rs2229493 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000276227.1|RCV000389238.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.399 0.110 T 0.003 0.237 B 0.015 0.195 B 0.965 0.082 N 1 0.090 P 0.93 0.236 L -0.15 0.652 T -1.51 0.439 N 0.132 0.152 -1.067 0.102 T 0.000 0.001 T . . . 0.200 0.113 4.684 0.880 0.171 0.191 0.203 N c -1.666 -1.655 0.967 0.289 0.722 0.854 0 -1.15 0.092 0.057 0.140 -0.966 0.023 0.005 0.169 0.016 0.126 8.850 0.342 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0756 0.1727 0.0411 0.0571 0.0001 0.0588 0.0795 0.0766 0.1111 0.0960 0.1748 0.0347 0.0397 0.0006 0.0599 0.0747 0.0777 het 1120.59 76 1 22160043 . C T 1120.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.074;DP=76;Dels=0.00;FS=0.918;HRun=1;HaplotypeScore=1.7675;MQ=58.65;MQ0=0;MQRankSum=0.260;QD=14.74;ReadPosRankSum=0.801;VQSLOD=5.8881;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,39:76:99:1151,0,882 1 22165901 22165901 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon73:c.T9855C:p.A3285A,HSPG2:NM_005529:exon73:c.T9852C:p.A3284A 0.35 0.55 0.24 0.16 0.27 0.41 0.2876 0.5338 0.1840 0.1621 0.2849 0.2616 0.2311 0.3795 0.35 0.53 0.26 0.37 0.22 rs2291826 COSM5427757 1(haematopoietic_and_lymphoid_tissue) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000336014.1|RCV000399444.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2765 0.5378 0.1852 0.2533 0.1611 0.2762 0.2601 0.2551 0.3821 0.3318 0.5427 0.1930 0.2318 0.1445 0.2833 0.2519 0.3119 het 1018.43 83 1 22165901 . A G 1018.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.149;DP=83;Dels=0.00;FS=4.183;HRun=1;HaplotypeScore=8.5766;MQ=59.22;MQ0=0;MQRankSum=0.733;QD=12.27;ReadPosRankSum=-1.025;VQSLOD=4.1919;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:41,42:83:99:1048,0,1183 1 22167605 22167605 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon71:c.G9505A:p.A3169T,HSPG2:NM_005529:exon71:c.G9502A:p.A3168T 0.084 0.16 0.05 . 0.068 0.11 0.1176 0.2266 0.0711 0 0.1124 0.1144 0.1 0.1355 0.1 0.16 0.075 0.098 . rs2228349 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000259415.1|RCV000316947.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.271 0.160 T 0.006 0.126 B 0.027 0.198 B 0.510 0.118 N 1 0.090 P 0.925 0.236 L -0.25 0.670 T -1.16 0.297 N 0.028 0.009 -1.066 0.104 T 0.001 0.002 T . . . 1.523 0.245 13.43 0.936 0.228 0.306 0.239 N c -1.024 -1.018 0.001 0.077 0.672 0.522 0 -0.426 0.116 0.959 0.286 -0.249 0.090 0.865 0.305 0.024 0.140 10.313 0.427 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0738 0.1605 0.0404 0.0566 0.0001 0.0578 0.0788 0.0742 0.1107 0.0929 0.1643 0.0346 0.0397 0.0006 0.0599 0.0744 0.0765 het 347.83 27 1 22167605 . C T 347.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.092;DP=27;Dels=0.00;FS=9.864;HRun=0;HaplotypeScore=0.9916;MQ=58.44;MQ0=0;MQRankSum=-1.480;QD=12.88;ReadPosRankSum=1.237;VQSLOD=3.6353;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:14,13:27:99:378,0,360 1 22168801 22168801 T C exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon68:c.A8986G:p.S2996G,HSPG2:NM_005529:exon68:c.A8983G:p.S2995G 0.089 0.18 0.053 . 0.068 0.11 0.0812 0.1832 0.0383 0 0.0614 0.0781 0.0727 0.1110 0.11 0.18 0.077 0.12 0.025 rs2229491 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000313160.1|RCV000370135.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.031 0.252 N 1 0.090 P 0.93 0.236 L 0.94 0.437 T 1.26 0.010 N 0.036 0.016 -1.020 0.237 T 0.000 0.000 T . . . -1.372 0.020 0.004 0.270 0.013 0.011 0.041 N c -1.431 -1.406 0.000 0.044 0.632 0.406 0 1.0 0.189 -0.183 0.096 -0.441 0.057 0.000 0.063 0.000 0.016 1.546 0.024 Immunoglobulin subtype 2|Immunoglobulin-like domain ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.0760 0.1809 0.0412 0.0568 0.0001 0.0585 0.0795 0.0773 0.1105 0.0975 0.1804 0.0346 0.0397 0.0006 0.0599 0.0745 0.0777 het 822.56 69 1 22168801 . T C 822.56 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.303;DP=69;Dels=0.00;FS=3.363;HRun=1;HaplotypeScore=1.7219;MQ=60.00;MQ0=0;MQRankSum=-0.367;QD=11.92;ReadPosRankSum=-0.150;VQSLOD=6.0626;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,32:69:99:853,0,935 1 22168845 22168845 A T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon68:c.T8942A:p.L2981H,HSPG2:NM_005529:exon68:c.T8939A:p.L2980H 0.034 0.0015 0.025 . 0.049 0.11 0.0560 0.0095 0.0258 0 0.0553 0.0606 0.0563 0.1160 0.04 0.0091 0.056 0.033 0.0082 rs2229489 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000262561.1|RCV000354940.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.446 0.126 N 1 0.090 N -0.895 0.014 N 1.03 0.405 T 2.3 0.003 N 0.052 0.034 -1.036 0.184 T 0.005 0.017 T . . . 0.574 0.149 7.972 0.263 0.013 0.180 0.199 N c -0.941 -0.733 0.001 0.085 0.632 0.406 0 4.95 0.648 3.368 0.518 0.088 0.194 0.998 0.411 0.772 0.328 10.134 0.417 Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000187942.7|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.0495 0.0082 0.0239 0.0421 0.0001 0.0439 0.0570 0.0479 0.1052 0.0378 0.0086 0.0191 0.0331 0 0.0470 0.0567 0.0562 het 604.76 50 1 22168845 . A T 604.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.486;DP=50;Dels=0.00;FS=12.025;HRun=0;HaplotypeScore=0.9665;MQ=59.25;MQ0=0;MQRankSum=1.175;QD=12.10;ReadPosRankSum=1.058;VQSLOD=3.7155;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:26,24:50:99:635,0,774 1 22174518 22174518 G T exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon60:c.C7809A:p.V2603V,HSPG2:NM_005529:exon60:c.C7806A:p.V2602V 0.035 0.0015 0.025 . 0.049 0.11 0.0511 0.0086 0.0225 0 0.0487 0.0558 0.0564 0.1060 0.041 0.0093 0.057 0.033 0.033 rs12737091 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000318918.1|RCV000375837.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0497 0.0082 0.0239 0.0421 0.0001 0.0439 0.0570 0.0495 0.1063 0.0375 0.0084 0.0191 0.0331 0 0.0467 0.0565 0.0542 het 662.05 56 1 22174518 . G T 662.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.783;DP=56;Dels=0.00;FS=3.480;HRun=1;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;MQRankSum=0.320;QD=11.82;ReadPosRankSum=0.386;VQSLOD=6.6048;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,26:56:99:692,0,861 1 22179244 22179244 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon52:c.G6676A:p.G2226S,HSPG2:NM_005529:exon52:c.G6673A:p.G2225S 0.035 0.0023 0.025 . 0.049 0.11 0.0509 0.0087 0.0222 0 0.0472 0.0558 0.0563 0.1050 0.041 0.0095 0.057 0.033 0.016 rs35669711 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000306325.1|RCV000398821.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.141 0.255 T 0.299 0.308 B 0.228 0.364 B 0.807 0.068 N 1 0.090 N 1.945 0.524 M -0.83 0.742 T -2.27 0.506 N 0.056 0.039 -0.861 0.512 T 0.072 0.293 T . . . 1.308 0.222 12.31 0.922 0.210 0.132 0.175 N c -0.638 -0.725 1.000 0.747 0.707 0.730 0 1.57 0.224 0.057 0.140 -1.623 0.009 0.000 0.063 0.000 0.016 8.045 0.295 Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000187942.7|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.0498 0.0083 0.0240 0.0421 0.0001 0.0443 0.0571 0.0492 0.1064 0.0376 0.0086 0.0191 0.0331 0 0.0470 0.0564 0.0564 het 2949.57 195 1 22179244 . C T 2949.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.195;DP=195;DS;Dels=0.00;FS=0.714;HRun=0;HaplotypeScore=2.6493;MQ=59.53;MQ0=0;MQRankSum=0.666;QD=15.13;ReadPosRankSum=1.825;VQSLOD=5.2732;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:89,106:195:99:2980,0,2208 1 22179451 22179451 C T exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon51:c.G6555A:p.T2185T,HSPG2:NM_005529:exon51:c.G6552A:p.T2184T 0.035 0.0015 0.025 . 0.049 0.11 0.0512 0.0087 0.0223 0.0002 0.0475 0.0561 0.0567 0.1048 0.041 0.0095 0.057 0.033 0.0082 rs34443576 . . Likely benign|Likely benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000263025.1|RCV000318160.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0499 0.0084 0.0242 0.0421 0.0003 0.0442 0.0570 0.0495 0.1066 0.0377 0.0088 0.0191 0.0331 0 0.0464 0.0566 0.0562 het 779.32 77 1 22179451 . C T 779.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.429;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.03;MQ0=0;MQRankSum=0.202;QD=10.12;ReadPosRankSum=-0.377;VQSLOD=5.8927;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,32:77:99:809,0,1219 1 22180723 22180723 C T exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon50:c.G6405A:p.V2135V,HSPG2:NM_005529:exon50:c.G6402A:p.V2134V 0.035 0.0015 0.025 . 0.049 0.11 0.0895 0.0125 0.0502 0 0.1132 0.1021 0.0879 0.1323 0.039 0.0093 0.055 0.033 0.016 rs12742444 . . Benign|Likely benign|Likely benign not_specified|Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000289771.1|RCV000294008.1|RCV000330249.1 MedGen|MedGen:Orphanet|MedGen:OMIM:Orphanet CN169374|C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0477 0.0072 0.0234 0.0419 0.0001 0.0422 0.0542 0.0474 0.1050 0.0376 0.0086 0.0191 0.0331 0 0.0464 0.0563 0.0560 het 129.55 11 1 22180723 . C T 129.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.466;DP=11;Dels=0.00;FS=2.430;HRun=0;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=0.717;QD=11.78;ReadPosRankSum=1.532;VQSLOD=5.9205;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,6:11:99:160,0,117 1 22181895 22181895 C T exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon47:c.G5902A:p.V1968I,HSPG2:NM_005529:exon47:c.G5899A:p.V1967I 0.035 0.0015 0.025 . 0.05 0.11 0.0536 0.0092 0.0238 0 0.0532 0.0580 0.0615 0.1125 0.041 0.0093 0.057 0.043 0.025 rs2229475 . . Likely benign|Likely benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000339647.1|RCV000375538.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 0.191 0.210 T 0.998 0.715 D 0.995 0.818 D 0.003 0.359 N 0.994 0.421 D 1.5 0.380 L -0.47 0.701 T -0.58 0.174 N 0.153 0.182 -0.638 0.632 T 0.090 0.345 T . . . 4.547 0.609 24.3 0.997 0.785 0.814 0.405 D c 0.411 0.383 1.000 0.747 0.672 0.522 0 5.12 0.693 1.934 0.396 0.852 0.362 0.992 0.373 0.958 0.437 16.043 0.804 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000187942.7|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12|ENSG00000142798.12 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.0492 0.0080 0.0238 0.0418 0.0001 0.0435 0.0563 0.0496 0.1058 0.0375 0.0085 0.0191 0.0298 0 0.0464 0.0564 0.0562 het 289.98 35 1 22181895 . C T 289.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.097;DP=35;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.577;QD=8.29;ReadPosRankSum=0.122;VQSLOD=6.0116;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,14:35:99:320,0,570 1 22191454 22191454 G A exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon36:c.C4511T:p.A1504V,HSPG2:NM_005529:exon36:c.C4508T:p.A1503V 0.69 0.59 0.78 0.89 0.73 0.53 0.7463 0.6525 0.8269 0.9042 0.7712 0.7581 0.7778 0.6023 0.7 0.62 0.74 0.71 0.5 rs897471 COSM3750893 1(pancreas);1(thyroid);1(upper_aerodigestive_tract);6(large_intestine) Benign|Benign|Benign Schwartz_Jampel_syndrome_type_1|not_specified|Dyssegmental_Dysplasia RCV000274418.1|RCV000299057.1|RCV000371265.1 MedGen:OMIM:Orphanet|MedGen|MedGen:Orphanet C0036391:255800:ORPHA800|CN169374|C1857100:ORPHA1865 . . . . . . 0.056 0.381 T 1.0 0.899 D 0.997 0.850 D 0.002 0.381 N 0.999 0.214 P 2.045 0.562 M 1.27 0.361 T -3.11 0.636 D 0.088 0.084 -1.100 0.041 T 0.000 0.000 T . . . 3.682 0.500 23.3 0.999 0.972 0.459 0.274 N c -0.002 -0.161 1.000 0.500 0.672 0.522 0 4.37 0.517 4.315 0.587 0.998 0.613 0.998 0.411 0.536 0.277 12.819 0.569 Laminin IV . . 0.7312 0.6118 0.8066 0.7424 0.8933 0.7495 0.7348 0.7578 0.5761 0.7093 0.6147 0.7900 0.7384 0.9 0.7334 0.7329 0.7074 het 103.60 16 1 22191454 . G A 103.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.674;DP=16;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9330;MQ=57.05;MQ0=0;MQRankSum=-0.061;QD=6.48;ReadPosRankSum=1.286;VQSLOD=2.7454;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,5:16:99:134,0,291 1 22206649 22206649 T C exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon17:c.A2297G:p.N766S,HSPG2:NM_005529:exon17:c.A2294G:p.N765S 0.93 0.75 0.98 1. 1. 1. 0.9811 0.7916 0.9923 1 1 0.9996 0.9868 0.9997 0.94 0.81 1. 0.88 0.99 rs989994 . . Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000317586.1|RCV000372262.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.246 0.173 T 0.003 0.102 B 0.016 0.166 B 0.016 0.281 N 0.002 0.449 P 1.425 0.359 L 0.11 0.612 T -1.88 0.439 N 0.082 0.075 -0.967 0.378 T 0.000 0.000 T . . . 2.117 0.315 16.97 0.993 0.594 0.821 0.411 D c -0.124 0.050 1.000 0.747 0.707 0.730 0 5.38 0.772 0.800 0.265 0.964 0.580 1.000 0.715 1.000 0.888 13.348 0.599 Laminin EGF domain . . 0.9849 0.7857 0.9903 1 1 1 0.9996 0.9916 0.9995 0.9404 0.7918 0.9857 1 0.9988 1 0.9994 0.9939 hom 2604.58 83 1 22206649 . T C 2604.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.357;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9789;MQ=59.42;MQ0=0;MQRankSum=1.690;QD=31.38;ReadPosRankSum=1.315;VQSLOD=7.8585;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,82:83:99:2638,181,0 1 22206942 22206942 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon16:c.C2112T:p.A704A,HSPG2:NM_005529:exon16:c.C2109T:p.A703A 0.93 0.75 0.98 1. 1. 1. 0.9812 0.7924 0.9923 1 1 0.9996 0.9867 0.9998 0.94 0.81 1. 0.89 0.99 rs1874793 COSM4143367 1(thyroid) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000282418.1|RCV000318734.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9850 0.7860 0.9903 1 1 1 0.9996 0.9916 0.9996 0.9405 0.7921 0.9857 1 0.9981 1 0.9994 0.9939 hom 1683.29 54 1 22206942 . G A 1683.29 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9916;MQ=59.14;MQ0=0;QD=31.17;VQSLOD=9.4576;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:54:99:1716,132,0 1 22207235 22207235 T C exonic HSPG2 nonsynonymous SNV HSPG2:NM_001291860:exon15:c.A1915G:p.M639V,HSPG2:NM_005529:exon15:c.A1912G:p.M638V 0.97 0.9 0.99 1. 1. 1. 0.9931 0.9216 0.9971 1 1 0.9997 0.9985 1 0.98 0.93 1. 0.94 0.79 rs1874792 . . Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000260399.1|RCV000296869.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.062 0.221 N 1.000 0.198 P -2.085 0.002 N 1.34 0.348 T 1.09 0.013 N 0.016 0.003 -0.979 0.352 T 0.000 0.000 T . . . -1.579 0.015 0.002 0.341 0.021 0.174 0.196 N c -1.163 -0.925 0.962 0.286 0.672 0.522 0 3.56 0.397 1.148 0.310 -0.425 0.059 0.757 0.290 0.008 0.104 7.569 0.269 Laminin IV . . 0.9946 0.9186 0.9965 1 1 1 0.9997 0.9970 0.9999 0.9785 0.9254 0.9916 1 0.9994 1 0.9996 0.9990 hom 454.51 15 1 22207235 . T C 454.51 Mask AC=2;AF=1.00;AN=2;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.30;VQSLOD=13.9582;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,15:15:39.12:488,39,0 1 22214127 22214127 A G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon8:c.T744C:p.L248L,HSPG2:NM_005529:exon8:c.T744C:p.L248L 0.54 0.71 0.58 0.65 0.32 0.38 0.4175 0.6406 0.5977 0.6264 0.3508 0.3354 0.4011 0.4014 0.43 0.63 0.32 0.5 0.34 rs2229478 COSM3750895;COSM3750894 3(large_intestine) Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000267416.1|RCV000317902.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . 0.0 0.912 D 0.001 0.067 B 0.001 0.040 B 0.682 0.102 N 1.000 0.090 P . . . 0.45 0.565 T 0.18 0.050 N . . -0.946 0.417 T 0.000 0.000 T . . . -0.843 0.038 0.034 0.896 0.184 0.061 0.120 N c -1.402 -1.444 0.998 0.365 0.672 0.522 0 0.117 0.139 -1.838 0.018 -0.948 0.024 0.000 0.063 0.000 0.016 0.623 0.007 . . . 0.4167 0.6396 0.5795 0.2545 0.6254 0.3575 0.3335 0.4032 0.4041 0.4500 0.6428 0.5373 0.2285 0.6445 0.3805 0.3370 0.3857 het 2030.21 163 1 22214127 . A G 2030.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.557;DP=163;Dels=0.00;FS=1.251;HRun=0;HaplotypeScore=1.6281;MQ=59.32;MQ0=0;MQRankSum=2.023;QD=12.46;ReadPosRankSum=0.616;VQSLOD=5.5305;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:82,81:163:99:2060,0,2196 1 22216604 22216604 C G exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon6:c.G444C:p.L148L,HSPG2:NM_005529:exon6:c.G444C:p.L148L 0.44 0.22 0.42 0.35 0.68 0.62 0.5770 0.2937 0.3976 0.3732 0.6487 0.6657 0.5960 0.6000 0.55 0.3 0.68 0.46 0.65 rs2254357 COSM3997260;COSM3997259 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia RCV000295447.1|RCV000352676.1 MedGen:OMIM:Orphanet|MedGen:Orphanet C0036391:255800:ORPHA800|C1857100:ORPHA1865 . . . . . . 0.243 0.175 T 0.946 0.514 P 0.509 0.461 P . . . 0.000 0.810 P . . . 0.56 0.546 T 0.76 0.020 N . . -1.050 0.143 T 0.000 0.000 T . . . 1.275 0.218 12.14 0.917 0.204 0.915 0.533 D c 0.227 0.286 1.000 0.747 0.672 0.522 0 4.5 0.542 1.139 0.309 0.935 0.490 1.000 0.715 0.992 0.562 14.050 0.641 . . . 0.5796 0.2904 0.4157 0.7461 0.3750 0.6427 0.6673 0.5947 0.5970 0.5299 0.2865 0.4606 0.7733 0.3559 0.6195 0.6626 0.6148 het 2391.28 243 1 22216604 . C G 2391.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.753;DP=243;DS;Dels=0.00;FS=5.372;HRun=0;HaplotypeScore=8.9823;MQ=59.23;MQ0=0;MQRankSum=-0.010;QD=9.84;ReadPosRankSum=2.176;VQSLOD=2.7482;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:146,97:243:99:2421,0,4144 1 22217108 22217108 G A exonic HSPG2 synonymous SNV HSPG2:NM_001291860:exon4:c.C324T:p.F108F,HSPG2:NM_005529:exon4:c.C324T:p.F108F 0.95 0.81 0.98 1. 1. 1. 0.9861 0.8475 0.9944 1 1 0.9996 0.9879 0.9998 0.95 0.87 1. 0.91 1. rs2501260 . . Benign|Benign Dyssegmental_Dysplasia|Schwartz_Jampel_syndrome_type_1 RCV000289547.1|RCV000406389.1 MedGen:Orphanet|MedGen:OMIM:Orphanet C1857100:ORPHA1865|C0036391:255800:ORPHA800 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9891 0.8440 0.9936 1 1 1 0.9997 0.9933 0.9997 0.9559 0.8462 0.9881 1 1 1 0.9996 0.9939 hom 6782.90 224 1 22217108 . G A 6782.90 Mask AC=2;AF=1.00;AN=2;DP=224;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.5304;MQ=58.87;MQ0=0;QD=30.28;VQSLOD=5.8944;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,223:224:99:6782,539,0 1 22307538 22307538 C T exonic CELA3B nonsynonymous SNV CELA3B:NM_007352:exon4:c.C235T:p.R79W 0.89 0.84 0.96 0.76 0.99 0.95 0.9555 0.8584 0.9437 0.7490 0.9991 0.9922 0.9659 0.9672 0.95 0.86 0.99 0.84 0.98 rs7528405 COSM3997262;COSM3997263 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.148 0.386 T 0.962 0.536 D 0.598 0.488 P 0.718 0.100 N 1 0.090 P 1.5 0.380 L -2.49 0.892 D -4.64 0.836 D 0.156 0.503 -0.923 0.452 T 0.000 0.000 T . . . 1.946 0.295 15.87 0.995 0.687 0.107 0.160 N c -0.383 -0.621 0.000 0.012 0.526 0.212 0 -0.773 0.104 -0.489 0.065 0.022 0.145 0.000 0.063 0.011 0.114 1.847 0.029 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9574 0.8590 0.9470 0.9736 0.7494 0.9990 0.9933 0.9712 0.9662 0.9435 0.8638 0.9547 0.9669 0.7531 0.9983 0.9939 0.9826 hom 3947.76 120 1 22307538 . C T 3947.76 Mask AC=2;AF=1.00;AN=2;DP=120;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=56.30;MQ0=0;QD=32.90;VQSLOD=8.0145;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,120:120:99:3948,304,0 1 22310725 22310725 G C exonic CELA3B synonymous SNV CELA3B:NM_007352:exon6:c.G543C:p.P181P . . . . . . 0.9105 0.7430 0.9219 0.7487 0.9311 0.9437 0.9084 0.9502 0.88 0.76 0.94 0.79 0.93 rs3820287 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9146 0.7416 0.9219 0.9590 0.7495 0.9307 0.9446 0.9236 0.9490 0.8761 0.7525 0.9356 0.9570 0.7540 0.9321 0.9388 0.9427 hom 4126.63 123 1 22310725 . G C 4126.63 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7870;MQ=54.49;MQ0=0;QD=33.55;VQSLOD=3.8803;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4126,343,0 1 22313161 22313161 T C exonic CELA3B synonymous SNV CELA3B:NM_007352:exon7:c.T780C:p.I260I 0.88 0.79 0.95 0.76 0.99 0.96 0.9510 0.8078 0.9393 0.7505 0.9991 0.9915 0.9570 0.9710 0.93 0.81 0.99 0.76 1. rs1803530 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9537 0.8067 0.9420 0.9744 0.7528 0.9990 0.9925 0.9671 0.9695 0.9273 0.8077 0.9545 0.9669 0.7547 0.9983 0.9929 0.9794 hom 2492.37 85 1 22313161 . T C 2492.37 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=43.80;MQ0=1;QD=29.32;VQSLOD=2.5593;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2525,217,0 1 22336277 22336277 C G exonic CELA3A nonsynonymous SNV CELA3A:NM_005747:exon7:c.C722G:p.A241G 0.9 0.9 0.9 0.74 0.98 0.95 0.9449 0.9252 0.8616 0.7543 0.9779 0.9784 0.9515 0.9657 0.96 0.92 0.98 0.85 0.98 rs3820285 COSM4143379 1(thyroid) . . . . . . . . . . . 0.47 0.085 T 0.0 0.026 B 0.004 0.093 B . . . 1 0.090 P -1.87 0.003 N 2.27 0.174 T 0.57 0.087 N 0.061 0.065 -0.994 0.316 T 0.000 0.000 T . . . -0.758 0.042 0.053 0.579 0.057 0.042 0.096 N c -1.318 -1.312 0.000 0.012 0.570 0.322 0 1.71 0.233 -0.043 0.119 -0.545 0.048 0.000 0.063 0.001 0.043 11.399 0.489 Peptidase S1\x2c PA clan|Serine proteases\x2c trypsin domain . . 0.9415 0.9244 0.8665 0.9685 0.7542 0.9781 0.9782 0.9527 0.9651 0.9507 0.9272 0.8864 0.96 0.7566 0.9797 0.9804 0.9702 hom 2806.68 89 1 22336277 . C G 2806.68 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.575;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7792;MQ=56.96;MQ0=0;MQRankSum=1.653;QD=31.54;ReadPosRankSum=1.142;VQSLOD=5.0463;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,88:89:99:2840,199,0 1 22835677 22835677 A G exonic ZBTB40 nonsynonymous SNV ZBTB40:NM_001330398:exon7:c.A1448G:p.Y483C,ZBTB40:NM_014870:exon9:c.A1784G:p.Y595C,ZBTB40:NM_001083621:exon10:c.A1784G:p.Y595C 0.82 0.94 0.84 0.89 0.72 0.69 0.7648 0.9102 0.8960 0.8982 0.7065 0.7209 0.7302 0.7137 0.78 0.9 0.72 0.88 0.75 rs209729 COSM3746832 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . 0.421 0.105 T 0.0 0.026 B 0.0 0.013 B 0.668 0.104 N 1 0.090 P -0.345 0.033 N 1.03 0.405 T 0.9 0.022 N 0.033 0.019 -1.050 0.144 T 0.000 0.000 T . . . 0.229 0.116 4.977 0.275 0.014 0.035 0.086 N c -1.416 -1.358 0.001 0.078 0.707 0.730 0 0.925 0.185 0.226 0.174 -0.827 0.030 0.006 0.172 0.000 0.016 2.866 0.052 . ENSG00000184677.12 Whole_Blood 0.7662 0.9142 0.8848 0.7503 0.8973 0.7111 0.7171 0.7465 0.7166 0.7793 0.9106 0.8816 0.7550 0.8813 0.7093 0.7054 0.7418 hom 5609.42 170 1 22835677 . A G 5609.42 Mask AC=2;AF=1.00;AN=2;DP=170;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.5313;MQ=59.04;MQ0=0;QD=33.00;VQSLOD=7.9411;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,169:170:99:5609,433,0 1 22846709 22846709 G A exonic ZBTB40 nonsynonymous SNV ZBTB40:NM_001330398:exon12:c.G2653A:p.V885M,ZBTB40:NM_014870:exon14:c.G2989A:p.V997M,ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M 1. 1. 1. 1. 0.99 1. 0.9970 0.9992 0.9979 1 0.9976 0.9955 0.9967 0.9992 1. 1. 0.99 1. 0.99 rs209720 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.040 B 0.000 0.629 N 1.000 0.189 P -0.465 0.027 N 3.53 0.049 T 1.03 0.015 N 0.085 0.080 -0.944 0.420 T 0.000 0.000 T . . . 1.673 0.262 14.26 0.844 0.147 0.389 0.259 N c -0.502 -0.249 0.383 0.200 0.707 0.730 0 5.79 0.917 1.868 0.389 -0.113 0.115 1.000 0.715 0.998 0.697 8.282 0.309 Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.9969 0.9992 0.9973 0.9996 1 0.9985 0.9949 0.9960 0.9993 0.9972 0.9991 0.9988 0.9967 1 0.9994 0.9951 0.9980 hom 5531.98 162 1 22846709 . G A 5531.98 Mask AC=2;AF=1.00;AN=2;DP=162;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.8127;MQ=59.25;MQ0=0;QD=34.15;VQSLOD=8.4821;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,162:162:99:5531,454,0 1 22852715 22852715 G C exonic ZBTB40 synonymous SNV ZBTB40:NM_001330398:exon16:c.G3210C:p.P1070P,ZBTB40:NM_014870:exon18:c.G3546C:p.P1182P,ZBTB40:NM_001083621:exon19:c.G3546C:p.P1182P 0.32 0.12 0.22 0.47 0.39 0.42 0.3422 0.1588 0.1585 0.4547 0.3439 0.3677 0.3532 0.4232 0.3 0.16 0.37 0.27 0.38 rs881646 COSM3746849 1(liver);1(large_intestine);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3392 0.1518 0.1762 0.3631 0.4569 0.3349 0.3727 0.3245 0.4210 0.2967 0.1588 0.2363 0.3510 0.4702 0.3381 0.3470 0.3592 het 1147.88 91 1 22852715 . G C 1147.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.111;DP=91;Dels=0.00;FS=7.979;HRun=2;HaplotypeScore=3.2388;MQ=59.08;MQ0=0;MQRankSum=2.187;QD=12.61;ReadPosRankSum=0.413;VQSLOD=3.6995;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,41:91:99:1178,0,1300 1 22852880 22852880 G C exonic ZBTB40 nonsynonymous SNV ZBTB40:NM_001330398:exon16:c.G3375C:p.E1125D,ZBTB40:NM_014870:exon18:c.G3711C:p.E1237D,ZBTB40:NM_001083621:exon19:c.G3711C:p.E1237D 0.026 0.0015 0.019 . 0.037 0.082 0.0362 0.0043 0.0162 0.0003 0.0467 0.0398 0.0396 0.0704 0.026 0.007 0.035 0.022 0.074 rs45502998 . . . . . . . . . . . . . 0.097 0.309 T 0.884 0.466 P 0.507 0.460 P 0.000 0.559 D 0.747 0.339 D 1.645 0.421 L 2.97 0.095 T -0.3 0.134 N 0.076 0.067 -1.031 0.201 T 0.007 0.023 T . . . 2.379 0.347 18.68 0.992 0.556 0.930 0.569 D c 0.124 0.182 0.052 0.149 0.707 0.730 0 3.74 0.419 1.701 0.372 1.048 0.713 1.000 0.715 1.000 0.888 7.607 0.271 . . . 0.0357 0.0037 0.0155 0.0420 0.0001 0.0498 0.0381 0.0414 0.0719 0.0334 0.0063 0.0107 0.0397 0.0006 0.0461 0.0502 0.0440 het 1769.29 167 1 22852880 . G C 1769.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.925;DP=167;Dels=0.00;FS=0.624;HRun=0;HaplotypeScore=4.1049;MQ=59.25;MQ0=0;MQRankSum=0.350;QD=10.59;ReadPosRankSum=0.477;VQSLOD=5.4406;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:91,76:167:99:1799,0,2540 1 22919904 22919904 C T exonic EPHA8 synonymous SNV EPHA8:NM_020526:exon6:c.C1401T:p.N467N 0.34 0.39 0.35 0.17 0.27 0.49 0.3741 0.4274 0.4974 0.2416 0.3275 0.3243 0.3664 0.5017 0.29 0.38 0.24 0.33 0.21 rs209696 COSM5019394 1(breast);8(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3025 0.3761 0.4058 0.2770 0.1955 0.2208 0.2476 0.2915 0.4755 0.2786 0.3716 0.3945 0.2781 0.1920 0.2352 0.2390 0.2571 het 160.63 12 1 22919904 . C T 160.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.588;DP=12;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9950;MQ=58.43;MQ0=0;MQRankSum=0.779;QD=13.39;ReadPosRankSum=-0.259;VQSLOD=6.0895;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:6,6:12:99:191,0,154 1 23219493 23219493 T C exonic EPHB2 synonymous SNV EPHB2:NM_001309192:exon7:c.T1545C:p.G515G,EPHB2:NM_001309193:exon7:c.T1545C:p.G515G,EPHB2:NM_004442:exon7:c.T1545C:p.G515G,EPHB2:NM_017449:exon7:c.T1545C:p.G515G 1. 1. 1. 1. 0.99 1. 0.9963 0.9986 0.9984 1 0.9973 0.9943 0.9978 0.9993 0.99 1. 0.99 1. 1. rs309472 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9988 0.9977 0.9976 1 0.9985 0.9940 0.9967 0.9995 0.9968 0.9994 0.9952 0.9934 1 0.9997 0.9943 0.9969 hom 3368.67 111 1 23219493 . T C 3368.67 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.575;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5568;MQ=59.46;MQ0=0;MQRankSum=0.094;QD=30.35;ReadPosRankSum=0.850;VQSLOD=8.9784;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,110:111:99:3346,259,0 1 23418153 23418153 C T exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.G2602A:p.D868N,LUZP1:NM_033631:exon4:c.G2602A:p.D868N 0.75 0.84 0.62 0.81 0.83 0.56 0.7686 0.8271 0.4946 0.8123 0.8809 0.8373 0.8073 0.5760 0.83 0.82 0.83 0.78 0.84 rs10799790 COSM5002336 1(pancreas) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.292 N 1 0.090 P -2.34 0.001 N 2.87 0.128 T 0.95 0.017 N 0.005 0.001 -1.004 0.288 T 0.000 0.000 T . . . 0.983 0.188 10.56 0.825 0.137 0.002 0.014 N c -1.299 -1.075 0.996 0.343 0.707 0.730 0 2.74 0.312 1.187 0.315 0.117 0.209 0.958 0.332 0.989 0.536 6.231 0.198 . ENSG00000215906.4 Testis 0.7612 0.8281 0.5228 0.8027 0.8111 0.8840 0.8367 0.7749 0.5824 0.8353 0.8253 0.5719 0.8311 0.8161 0.8912 0.8452 0.8282 hom 5300.49 175 1 23418153 . C T 5300.49 Mask AC=2;AF=1.00;AN=2;DP=175;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.3403;MQ=59.18;MQ0=0;QD=30.29;VQSLOD=7.7097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,175:175:99:5300,421,0 1 23418803 23418803 G C exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.C1952G:p.S651C,LUZP1:NM_033631:exon4:c.C1952G:p.S651C 0.0034 0.0008 0.0029 . 0.014 . 0.0092 0.0026 0.0025 0 0.0221 0.0133 0.0154 0.0010 0.01 0.0034 0.014 0.022 . rs35645814 COSM3746865 1(liver) . . . . . . . . . . . 0.006 0.614 D 0.003 0.102 B 0.003 0.080 B 0.287 0.148 N 1.000 0.090 N 2.24 0.636 M 2.52 0.170 T -1.91 0.444 N 0.061 0.246 -1.015 0.255 T 0.025 0.105 T . . . 2.057 0.308 16.58 0.968 0.305 0.302 0.238 N c -0.606 -0.593 0.998 0.364 0.707 0.730 0 1.62 0.227 1.106 0.305 1.045 0.669 0.049 0.212 1.000 0.888 3.666 0.077 . . . 0.0092 0.0021 0.0030 0.0074 0 0.0216 0.0134 0.0111 0.0008 0.0103 0.0022 0.0012 0.0066 0 0.0252 0.0133 0.0092 het 4616.87 250 1 23418803 . G C 4616.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.604;DP=250;DS;Dels=0.00;FS=2.835;HRun=0;HaplotypeScore=3.5919;MQ=59.76;MQ0=0;MQRankSum=-0.767;QD=18.47;ReadPosRankSum=0.879;VQSLOD=4.3852;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:115,135:250:99:3969,0,3125 1 23419261 23419261 G A exonic LUZP1 synonymous SNV LUZP1:NM_001142546:exon3:c.C1494T:p.S498S,LUZP1:NM_033631:exon4:c.C1494T:p.S498S 0.69 0.64 0.59 0.81 0.83 0.56 0.7529 0.6559 0.4889 0.8124 0.8811 0.8364 0.7996 0.5764 0.77 0.66 0.83 0.69 0.81 rs477717 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7484 0.6496 0.5150 0.7987 0.8110 0.8840 0.8358 0.7671 0.5823 0.7853 0.6531 0.5526 0.8278 0.8167 0.8912 0.8437 0.8219 hom 7673.38 250 1 23419261 . G A 7673.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.704;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8300;MQ=59.33;MQ0=0;MQRankSum=-0.182;QD=30.69;ReadPosRankSum=-0.880;VQSLOD=9.4121;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,247:250:99:7672,635,0 1 23419374 23419374 G T exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.C1381A:p.Q461K,LUZP1:NM_033631:exon4:c.C1381A:p.Q461K 0.68 0.59 0.59 0.81 0.83 0.56 0.7490 0.6118 0.4871 0.8119 0.8811 0.8364 0.7996 0.5760 0.76 0.62 0.83 0.66 0.77 rs3765407 . . . . . . . . . . . . . 0.065 0.363 T 0.403 0.384 B 0.082 0.303 B 0.076 0.212 N 1.000 0.196 P 2.28 0.651 M 2.7 0.147 T -0.58 0.245 N 0.072 0.319 -1.097 0.045 T 0.000 0.000 T . . . 1.206 0.211 11.78 0.961 0.280 0.961 0.672 D c 0.150 0.235 1.000 0.489 0.707 0.730 0 3.97 0.451 2.989 0.488 1.048 0.713 0.657 0.280 0.971 0.463 13.124 0.586 . ENSG00000215906.4 Testis 0.7452 0.6056 0.5129 0.7982 0.8113 0.8838 0.8358 0.7656 0.5821 0.7712 0.6063 0.5525 0.8333 0.8157 0.8910 0.8428 0.8124 hom 7874.68 227 1 23419374 . G T 7874.68 Mask AC=2;AF=1.00;AN=2;DP=227;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5345;MQ=58.81;MQ0=0;QD=34.69;VQSLOD=9.4876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:7874,629,0 1 23419383 23419383 C T exonic LUZP1 nonsynonymous SNV LUZP1:NM_001142546:exon3:c.G1372A:p.G458S,LUZP1:NM_033631:exon4:c.G1372A:p.G458S 0.69 0.64 0.59 0.81 0.83 0.56 0.7530 0.6560 0.4886 0.8125 0.8808 0.8365 0.7996 0.5767 0.77 0.66 0.83 0.69 0.75 rs477830 . . . . . . . . . . . . . 0.183 0.231 T 0.038 0.196 B 0.012 0.149 B 0.000 0.491 D 1 0.090 P 2.485 0.726 M 2.59 0.158 T -0.06 0.079 N 0.104 0.211 -1.062 0.113 T 0.000 0.000 T . . . 1.118 0.202 11.31 0.995 0.695 0.178 0.198 N c -0.641 -0.621 1.000 0.500 0.707 0.730 0 3.97 0.451 1.564 0.358 0.935 0.490 0.019 0.194 0.665 0.302 12.789 0.567 . ENSG00000215906.4 Testis 0.7483 0.6493 0.5148 0.7983 0.8113 0.8839 0.8359 0.7663 0.5823 0.7844 0.6525 0.5514 0.8322 0.8164 0.8909 0.8427 0.8200 hom 8297.99 241 1 23419383 . C T 8297.99 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8215;MQ=58.88;MQ0=0;QD=34.43;VQSLOD=8.5651;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,240:241:99:8297,659,0 1 23419855 23419855 T C exonic LUZP1 synonymous SNV LUZP1:NM_001142546:exon3:c.A900G:p.T300T,LUZP1:NM_033631:exon4:c.A900G:p.T300T 0.75 0.84 0.62 0.81 0.83 0.56 0.7691 0.8299 0.4961 0.8113 0.8809 0.8376 0.8073 0.5766 0.83 0.82 0.83 0.79 0.84 rs1983965 COSM5420058 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7619 0.8311 0.5239 0.8030 0.8111 0.8839 0.8366 0.7757 0.5824 0.8359 0.8277 0.5730 0.8311 0.8177 0.8914 0.8450 0.8289 hom 6629.53 216 1 23419855 . T C 6629.53 Mask AC=2;AF=1.00;AN=2;DP=216;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8078;MQ=59.66;MQ0=0;QD=30.69;VQSLOD=7.5059;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,216:216:99:6628,530,0 1 23688933 23688933 A G exonic ZNF436 synonymous SNV ZNF436:NM_030634:exon3:c.T942C:p.N314N,ZNF436:NM_001077195:exon4:c.T942C:p.N314N 0.51 0.19 0.65 0.63 0.73 0.5 0.6487 0.2577 0.6241 0.6406 0.7299 0.7337 0.6586 0.5402 0.58 0.28 0.73 0.45 0.73 rs2849028 COSM5420061 1(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6596 0.2513 0.6384 0.7575 0.6325 0.7354 0.7327 0.6892 0.5443 0.5957 0.2594 0.6427 0.7583 0.6455 0.7497 0.7373 0.6953 hom 6661.30 196 1 23688933 . A G 6661.30 Mask AC=2;AF=1.00;AN=2;DP=196;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1365;MQ=59.22;MQ0=0;QD=33.99;VQSLOD=9.5428;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,196:196:99:6661,527,0 1 23763449 23763449 G A exonic ASAP3 synonymous SNV ASAP3:NM_001143778:exon14:c.C1404T:p.R468R,ASAP3:NM_017707:exon15:c.C1431T:p.R477R 0.05 0.012 0.06 . 0.1 0.089 0.0884 0.0256 0.0458 0.0002 0.1289 0.1141 0.0792 0.0848 0.074 0.027 0.098 0.033 0.16 rs115515935 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0832 0.0229 0.0462 0.1184 0.0001 0.1148 0.1062 0.0913 0.0840 0.0745 0.0194 0.0513 0.0933 0.0006 0.1140 0.1042 0.1049 het 138.88 21 1 23763449 . G A 138.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.571;DP=21;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.8941;MQ=59.11;MQ0=0;MQRankSum=0.253;QD=6.61;ReadPosRankSum=-0.471;VQSLOD=5.2603;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,8:21:99:169,0,379 1 23847464 23847464 C A exonic E2F2 nonsynonymous SNV E2F2:NM_004091:exon4:c.G678T:p.Q226H 0.36 0.062 0.41 0.6 0.51 0.3 0.4514 0.1134 0.3623 0.6199 0.5781 0.5112 0.4570 0.3455 0.38 0.13 0.5 0.35 0.57 rs2075995 COSM3746872 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.44 0.092 T 0.985 0.592 D 0.669 0.512 P 0.000 0.457 D 0.024 0.392 P 2.15 0.603 M -2.0 0.854 D -1.61 0.387 N 0.132 0.152 -0.876 0.501 T 0.000 0.000 T . . . 4.114 0.552 23.8 0.996 0.717 0.775 0.378 D c 0.311 0.335 1.000 0.747 0.707 0.730 0 5.06 0.677 0.078 0.145 0.935 0.490 0.960 0.334 1.000 0.888 14.136 0.647 E2F transcription factor\x2c CC-MB domain ENSG00000204219.5|ENSG00000088280.14 Cells_Transformed_fibroblasts|Muscle_Skeletal 0.4550 0.1073 0.3645 0.4939 0.6122 0.5749 0.5072 0.4605 0.3486 0.4144 0.1110 0.3804 0.4503 0.6084 0.5833 0.5265 0.4969 het 1088.69 100 1 23847464 . C A 1088.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.180;DP=100;Dels=0.00;FS=2.749;HRun=0;HaplotypeScore=4.2716;MQ=59.77;MQ0=0;MQRankSum=-0.007;QD=10.89;ReadPosRankSum=-0.285;VQSLOD=5.5941;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,43:100:99:1119,0,1589 1 23885498 23885498 T C exonic ID3 nonsynonymous SNV ID3:NM_002167:exon2:c.A313G:p.T105A 0.89 0.99 0.74 0.97 0.76 0.92 0.8037 0.9508 0.7009 0.9754 0.6796 0.7620 0.8142 0.9101 0.82 0.94 0.76 0.88 0.77 rs11574 . . . . . . . . . . . . . 0.865 0.026 T 0.0 0.026 B 0.0 0.013 B 0.902 0.086 N 1 0.090 P -0.205 0.041 N -0.56 0.712 T 0.23 0.046 N 0.016 0.003 -0.986 0.337 T 0.000 0.000 T . . . -2.559 0.003 0.001 0.525 0.047 0.009 0.034 N c -1.707 -1.664 1.000 0.747 0.628 0.401 0 -2.76 0.055 -0.496 0.065 -1.609 0.009 0.000 0.063 0.145 0.203 4.909 0.131 . ENSG00000117318.8 Thyroid 0.7958 0.9544 0.7008 0.8988 0.9759 0.6854 0.7563 0.8021 0.9087 0.8086 0.9543 0.7303 0.9040 0.9746 0.6847 0.7405 0.7541 het 357.74 41 1 23885498 . T C 357.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.913;DP=41;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.54;MQ0=0;MQRankSum=0.569;QD=8.73;ReadPosRankSum=-0.040;VQSLOD=6.6794;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:24,17:41:99:388,0,665 1 23965704 23965704 A C exonic MDS2 nonsynonymous SNV MDS2:NM_001348075:exon5:c.A109C:p.N37H 0.27 0.076 0.4 0.43 0.25 0.32 0.2848 0.1113 0.5187 0.4485 0.2446 0.2374 0.3056 0.3236 0.2 0.12 0.24 0.22 . rs10917403 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.090 P . . . . . . 3.67 0.001 N 0.05 0.031 -0.954 0.404 T 0.000 0.000 T . . . -1.338 0.021 0.004 0.137 0.003 0.002 0.013 N c -0.807 -1.007 1.000 0.747 0.516 0.203 0 1.19 0.200 -0.884 0.042 -0.238 0.093 0.000 0.063 0.000 0.016 6.825 0.229 . . . 0.2901 0.1004 0.5002 0.2481 0.4397 0.2454 0.2337 0.2944 0.3090 0.2154 0.1022 0.4484 0.24 0.4637 0.2494 0.2318 0.2378 het 281.15 32 1 23965704 . A C 281.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.666;DP=32;Dels=0.00;FS=1.440;HRun=0;HaplotypeScore=3.8547;MQ=58.69;MQ0=0;MQRankSum=0.409;QD=8.79;ReadPosRankSum=0.058;VQSLOD=5.8618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,12:32:99:311,0,556 1 24134721 24134721 T C exonic HMGCL synonymous SNV HMGCL:NM_001166059:exon5:c.A441G:p.L147L,HMGCL:NM_000191:exon7:c.A654G:p.L218L 0.89 0.97 0.89 0.78 0.93 0.84 0.9042 0.9668 0.9007 0.7920 0.9631 0.9114 0.9108 0.8727 0.93 0.96 0.91 0.94 0.92 rs719400 . . Benign|Benign not_specified|Deficiency_of_hydroxymethylglutaryl-CoA_lyase RCV000078343.6|RCV000268428.1 MedGen|MedGen:OMIM:SNOMED_CT CN169374|C0268601:246450:124611007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9027 0.9674 0.8938 0.8706 0.7886 0.9592 0.9133 0.9081 0.8744 0.9306 0.9665 0.8816 0.8676 0.7829 0.9590 0.9234 0.9216 hom 5451.38 157 1 24134721 . T C 5451.38 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.85;MQ0=0;QD=34.72;VQSLOD=9.4761;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,157:157:99:5451,427,0 1 24201094 24201094 G C exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.C1014G:p.T338T 0.65 0.79 0.64 0.5 0.59 0.7 0.6190 0.7589 0.7110 0.5385 0.5712 0.5720 0.6454 0.7159 0.63 0.75 0.57 0.67 0.57 rs2229581 COSM146443 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6179 0.7608 0.6862 0.5762 0.5298 0.5828 0.5747 0.6141 0.7176 0.6301 0.7604 0.6611 0.5795 0.5161 0.5759 0.5822 0.5714 hom 7092.22 229 1 24201094 . G C 7092.22 Mask AC=2;AF=1.00;AN=2;DP=229;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.5696;MQ=59.38;MQ0=0;QD=30.97;VQSLOD=7.7104;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,229:229:99:7091,566,0 1 24201109 24201109 C T exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.G999A:p.P333P 0.65 0.79 0.64 0.5 0.59 0.7 0.6190 0.7589 0.7112 0.5391 0.5712 0.5720 0.6454 0.7158 0.63 0.75 0.57 0.67 0.57 rs2229580 COSM146444 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6179 0.7608 0.6863 0.5762 0.5300 0.5829 0.5747 0.6141 0.7177 0.6302 0.7603 0.6603 0.5795 0.5155 0.5751 0.5829 0.5714 hom 7737.36 239 1 24201109 . C T 7737.36 Mask AC=2;AF=1.00;AN=2;DP=239;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.40;MQ0=0;QD=32.37;VQSLOD=9.2744;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,239:239:99:7737,602,0 1 24201262 24201262 A G exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.T846C:p.A282A 0.65 0.79 0.64 0.5 0.59 0.7 0.6190 0.7589 0.7113 0.5389 0.5716 0.5719 0.6457 0.7160 0.63 0.75 0.57 0.67 0.57 rs2502993 COSM146445 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6179 0.7609 0.6863 0.5761 0.5302 0.5828 0.5747 0.6141 0.7177 0.6303 0.7604 0.6611 0.5767 0.5161 0.5754 0.5827 0.5706 hom 5467.72 156 1 24201262 . A G 5467.72 Mask AC=2;AF=1.00;AN=2;DP=156;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.8073;MQ=59.85;MQ0=0;QD=35.05;VQSLOD=9.3355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:156:99:5467,424,0 1 24201357 24201357 A G exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.T751C:p.L251L 0.65 0.79 0.64 0.5 0.59 0.7 0.6184 0.7587 0.7102 0.5370 0.5708 0.5712 0.6460 0.7159 0.63 0.75 0.57 0.67 0.57 rs4649124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6175 0.7610 0.6858 0.5758 0.5294 0.5824 0.5742 0.6136 0.7176 0.6307 0.7604 0.6627 0.5845 0.5173 0.5759 0.5830 0.5716 hom 3554.03 105 1 24201357 . A G 3554.03 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.19;MQ0=0;QD=33.85;VQSLOD=10.0554;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3554,277,0 1 24201448 24201448 C T exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.G660A:p.V220V 0.65 0.79 0.64 0.5 0.59 0.7 0.6191 0.7590 0.7111 0.5402 0.5708 0.5722 0.6477 0.7180 0.63 0.75 0.57 0.67 0.57 rs3003336 COSM146446 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6175 0.7607 0.6865 0.5758 0.5298 0.5828 0.5739 0.6148 0.7167 0.6303 0.7600 0.6611 0.5795 0.5174 0.5756 0.5828 0.5716 hom 2963.27 90 1 24201448 . C T 2963.27 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9815;MQ=59.26;MQ0=0;QD=32.93;VQSLOD=9.4669;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2996,244,0 1 24201643 24201643 G A exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.C465T:p.G155G 0.65 0.79 0.64 0.5 0.59 0.7 0.6198 0.7588 0.7117 0.5412 0.5716 0.5723 0.6460 0.7199 0.63 0.75 0.57 0.67 0.57 rs2501431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6181 0.7607 0.6867 0.5765 0.5305 0.5831 0.5746 0.6140 0.7178 0.6298 0.7601 0.6603 0.5833 0.5161 0.5757 0.5822 0.5694 hom 3172.23 98 1 24201643 . G A 3172.23 Mask AC=2;AF=1.00;AN=2;DP=98;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9138;MQ=59.76;MQ0=0;QD=32.37;VQSLOD=8.9585;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,98:98:99:3205,268,0 1 24201919 24201919 T C exonic CNR2 synonymous SNV CNR2:NM_001841:exon2:c.A189G:p.Q63Q 0.65 0.8 0.64 0.5 0.59 0.7 0.6183 0.7586 0.7106 0.5381 0.5711 0.5711 0.6449 0.7157 0.61 0.73 0.55 . 0.49 rs2502992 COSM146447;COSM3751042 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6174 0.7610 0.6860 0.5763 0.5296 0.5825 0.5739 0.6136 0.7175 0.6287 0.7599 0.6603 0.5767 0.5126 0.5763 0.5800 0.5694 hom 4087.11 122 1 24201919 . T C 4087.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.241;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6198;MQ=58.43;MQ0=0;MQRankSum=1.472;QD=33.50;ReadPosRankSum=1.184;VQSLOD=7.6584;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,121:122:99:4055,299,0 1 24201920 24201920 T C exonic CNR2 nonsynonymous SNV CNR2:NM_001841:exon2:c.A188G:p.Q63R 0.65 0.79 0.64 0.5 0.59 0.7 0.6182 0.7575 0.7104 0.5376 0.5711 0.5711 0.6449 0.7156 0.61 0.73 0.55 . 0.5 rs2501432 COSM3927625;COSM146448 1(stomach);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.091 0.203 N 1 0.090 P -1.57 0.005 N -0.51 0.706 T 1.29 0.010 N 0.016 0.004 -0.955 0.400 T 0.000 0.000 T . . . -1.464 0.018 0.003 0.171 0.005 0.101 0.155 N c -0.914 -0.698 1.000 0.427 0.461 0.090 0 5.12 0.693 1.470 0.347 0.069 0.176 0.445 0.263 0.124 0.197 8.677 0.332 GPCR\x2c rhodopsin-like\x2c 7TM ENSG00000179163.11|ENSG00000188822.6|ENSG00000179163.11 Heart_Left_Ventricle|Testis|Whole_Blood 0.6174 0.7605 0.6859 0.5762 0.5296 0.5826 0.5739 0.6135 0.7175 0.6282 0.7589 0.6619 0.5805 0.5100 0.5760 0.5796 0.5706 hom 4132.49 126 1 24201920 . T C 4132.49 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3187;MQ=58.48;MQ0=0;QD=32.80;VQSLOD=6.2836;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4132,349,0 1 24393563 24393563 C T exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon28:c.G3371A:p.R1124Q 0.28 0.49 0.16 0.2 0.14 0.31 0.3076 0.4715 0.3078 0.3267 0.3458 0.2557 0.2724 0.3271 0.21 0.36 0.14 0.26 0.19 rs16829071 COSM3751049;COSM3751050 2(thyroid);1(large_intestine) . . . . . . . . . . . 0.059 0.375 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P 0 0.065 N 0.64 0.529 T 1.87 0.005 N 0.023 0.016 -0.981 0.348 T 0.000 0.000 T . . . 4.883 0.656 24.9 0.991 0.528 0.015 0.049 N c -0.559 -0.376 0.998 0.367 0.487 0.133 0 5.53 0.825 5.368 0.657 0.119 0.209 1.000 0.715 0.603 0.289 11.538 0.497 Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.1880 0.4006 0.1525 0.3030 0.1967 0.1129 0.1384 0.1957 0.2949 0.2034 0.3860 0.1938 0.2815 0.2144 0.1144 0.1198 0.1442 het 80.26 18 1 24393563 . C T 80.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.577;DP=18;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;MQRankSum=1.676;QD=4.46;ReadPosRankSum=-1.774;VQSLOD=4.5083;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,5:18:99:110,0,341 1 24394811 24394811 A G exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon26:c.T3197C:p.I1066T 0.2 0.23 0.14 0.2 0.14 0.25 0.1636 0.2013 0.1276 0.1941 0.1193 0.1445 0.1633 0.2456 0.15 0.18 0.13 0.17 0.23 rs12145360 COSM3997372;COSM3997371 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.28 0.155 T 0.004 0.161 B 0.02 0.179 B 0.003 0.358 N 0.050 0.377 P 0.765 0.194 N 3.65 0.043 T -2.19 0.493 N 0.083 0.100 -0.912 0.467 T 0.000 0.000 T . . . 2.448 0.355 19.13 0.973 0.330 0.963 0.685 D c -0.195 -0.010 0.970 0.291 0.497 0.185 0 4.69 0.584 4.828 0.622 0.187 0.248 1.000 0.715 0.909 0.387 9.561 0.383 Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000203589.2 Esophagus_Muscularis 0.1636 0.2001 0.1364 0.3020 0.1978 0.1145 0.1363 0.1709 0.2450 0.1478 0.1931 0.1695 0.2815 0.2163 0.1155 0.1190 0.1283 het 3059.13 250 1 24394811 . A G 3059.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.609;DP=250;DS;Dels=0.00;FS=1.025;HRun=1;HaplotypeScore=5.9263;MQ=58.75;MQ0=0;MQRankSum=1.667;QD=12.24;ReadPosRankSum=0.199;VQSLOD=5.1068;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:139,111:250:99:3089,0,3856 1 24406535 24406535 G A exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon20:c.C2557T:p.P853S 0.089 0.0091 0.24 0.002 0.19 0.082 0.1715 0.0385 0.2938 0.0003 0.1996 0.2030 0.1779 0.1143 0.15 0.041 0.2 0.043 0.11 rs35446243 COSM3746880;COSM3746881 1(liver);1(thyroid) . . . . . . . . . . . 0.131 0.266 T 0.004 0.176 B 0.012 0.149 B 0.094 0.202 N 1 0.090 P -0.93 0.013 N 0.66 0.524 T -0.24 0.108 N 0.015 0.009 -1.013 0.260 T 0.000 0.000 T . . . 0.020 0.096 2.782 0.845 0.148 0.103 0.157 N c -1.023 -0.934 0.000 0.053 0.497 0.185 0 1.21 0.201 0.043 0.137 0.135 0.219 0.018 0.193 0.134 0.200 1.576 0.024 Fibronectin type III|Immunoglobulin-like fold . . 0.1749 0.0361 0.2833 0.1152 0.0005 0.2026 0.2054 0.1823 0.1105 0.1563 0.0379 0.2494 0.1126 0.0006 0.1928 0.2254 0.2157 het 1706.45 118 1 24406535 . G A 1706.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.391;DP=118;Dels=0.00;FS=3.455;HRun=0;HaplotypeScore=8.0844;MQ=58.41;MQ0=0;MQRankSum=0.402;QD=14.46;ReadPosRankSum=-0.297;VQSLOD=4.2855;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:52,64:118:99:1736,0,1440 1 24409165 24409165 C T exonic MYOM3 synonymous SNV MYOM3:NM_152372:exon17:c.G2010A:p.E670E 0.18 0.19 0.14 0.19 0.13 0.25 0.1593 0.1781 0.1253 0.1917 0.1178 0.1404 0.1618 0.2491 0.14 0.15 0.13 0.18 0.17 rs4320728 COSM3997373;COSM3997374 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1564 0.1740 0.1307 0.2854 0.1893 0.1127 0.1304 0.1603 0.2429 0.1380 0.1714 0.1671 0.2567 0.2098 0.1147 0.1130 0.1253 het 1666.39 130 1 24409165 . C T 1666.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.070;DP=130;Dels=0.00;FS=5.438;HRun=1;HaplotypeScore=1.9849;MQ=59.34;MQ0=0;MQRankSum=2.058;QD=12.82;ReadPosRankSum=0.684;VQSLOD=5.2664;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:65,65:130:99:1696,0,1714 1 24416059 24416059 T C exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon14:c.A1583G:p.D528G 0.98 0.93 0.98 1. 1. 1. 0.9940 0.9306 0.9967 1 1 0.9997 1 0.9999 0.98 0.94 1. 0.94 0.87 rs4393101 COSM4143595;COSM4143594 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.997 0.229 P -3.43 0.000 N 0.83 0.478 T 6.45 0.000 N 0.083 0.163 -0.935 0.434 T 0.000 0.000 T . . . 0.753 0.166 9.170 0.715 0.093 0.038 0.090 N c -1.007 -0.652 1.000 0.747 0.554 0.283 0 5.29 0.743 4.714 0.614 0.016 0.142 1.000 0.715 0.262 0.230 14.151 0.648 Fibronectin type III|Immunoglobulin-like fold . . 0.9951 0.9303 0.9968 1 0.9999 1 0.9996 0.9970 0.9998 0.9790 0.9281 0.9893 1 1 1 0.9997 0.9929 hom 329.44 10 1 24416059 . T C 329.44 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.9159;MQ=60.00;MQ0=0;QD=32.94;VQSLOD=9.5604;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:30.08:362,30,0 1 24416133 24416133 C T exonic MYOM3 synonymous SNV MYOM3:NM_152372:exon14:c.G1509A:p.P503P 0.17 0.19 0.13 0.18 0.11 0.24 0.2006 0.2120 0.2024 0.2460 0.2080 0.1692 0.2037 0.2656 0.12 0.15 0.11 0.15 0.11 rs4276859 COSM3751057;COSM1340817 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1406 0.1670 0.1232 0.2264 0.1859 0.1037 0.1075 0.1497 0.2311 0.1254 0.1688 0.1487 0.2 0.1896 0.1065 0.0958 0.1102 het 137.87 14 1 24416133 . C T 137.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.406;DP=14;Dels=0.00;FS=2.522;HRun=0;HaplotypeScore=1.6643;MQ=56.62;MQ0=0;MQRankSum=-0.910;QD=9.85;ReadPosRankSum=0.068;VQSLOD=3.6270;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:168,0,161 1 24417415 24417415 T C exonic MYOM3 nonsynonymous SNV MYOM3:NM_152372:exon12:c.A1304G:p.Q435R 0.17 0.24 0.13 0.003 0.18 0.27 0.1634 0.2135 0.0822 0.0035 0.1503 0.1668 0.1704 0.2655 0.17 0.2 0.16 0.18 0.19 rs6700245 COSM3751059;COSM3751058 1(large_intestine) . . . . . . . . . . . 0.371 0.115 T 0.003 0.102 B 0.021 0.181 B 0.074 0.213 N 0.994 0.235 P 0.105 0.085 N 0.44 0.566 T -0.7 0.199 N 0.029 0.022 -1.052 0.137 T 0.000 0.000 T . . . 1.257 0.216 12.05 0.980 0.372 0.681 0.334 D c -0.419 -0.219 0.986 0.309 0.403 0.052 0 3.03 0.339 1.813 0.384 1.061 0.807 1.000 0.715 0.998 0.697 3.636 0.076 Fibronectin type III|Immunoglobulin-like fold . . 0.1632 0.2163 0.0904 0.3254 0.0039 0.1571 0.1602 0.1681 0.2682 0.1632 0.2116 0.1026 0.3113 0.0043 0.1588 0.1536 0.1626 het 1281.60 124 1 24417415 . T C 1281.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.169;DP=124;Dels=0.00;FS=5.856;HRun=0;HaplotypeScore=6.2808;MQ=59.14;MQ0=0;MQRankSum=-0.837;QD=10.34;ReadPosRankSum=-0.145;VQSLOD=4.4049;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,57:124:99:1312,0,1847 1 24447468 24447468 G C exonic IL22RA1 nonsynonymous SNV IL22RA1:NM_021258:exon7:c.C1552G:p.R518G 0.47 0.29 0.4 0.73 0.4 0.55 0.4174 0.3088 0.4231 0.6988 0.3186 0.3816 0.3918 0.5202 0.37 0.3 0.41 0.45 0.27 rs3795299 COSM3751064 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.257 0.167 T 0.178 0.273 B 0.039 0.223 B 0.248 0.036 N 1 0.090 P 0.69 0.170 N 3.11 0.082 T -0.28 0.116 N 0.094 0.094 -0.974 0.363 T 0.000 0.000 T . . . 2.946 0.415 22.0 0.976 0.342 0.609 0.311 D c -0.563 -0.468 1.000 0.747 0.554 0.283 0 4.24 0.493 1.882 0.390 -0.304 0.080 0.976 0.346 0.001 0.043 11.300 0.483 . ENSG00000142677.3|ENSG00000142677.3|ENSG00000142661.14|ENSG00000142677.3|ENSG00000142661.14 Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg 0.4179 0.3116 0.4116 0.3833 0.7016 0.3124 0.3895 0.3937 0.5134 0.3716 0.3146 0.3840 0.3874 0.7064 0.3164 0.3801 0.3758 het 848.07 73 1 24447468 . G C 848.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.250;DP=73;Dels=0.00;FS=2.003;HRun=1;HaplotypeScore=1.9989;MQ=59.49;MQ0=0;MQRankSum=0.398;QD=11.62;ReadPosRankSum=1.239;VQSLOD=6.3268;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,30:73:99:878,0,1115 1 24447943 24447943 G A exonic IL22RA1 synonymous SNV IL22RA1:NM_021258:exon7:c.C1077T:p.V359V 0.12 0.22 0.062 0.003 0.097 0.16 0.0983 0.1934 0.0443 0.0033 0.0565 0.0996 0.0970 0.1687 0.13 0.19 0.098 0.11 0.13 rs34967816 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0946 0.1944 0.0472 0.1491 0.0031 0.0583 0.0982 0.0918 0.1697 0.1132 0.1927 0.0644 0.1722 0.0025 0.0624 0.0936 0.0969 het 1649.27 119 1 24447943 . G A 1649.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.302;DP=119;Dels=0.00;FS=1.504;HRun=1;HaplotypeScore=3.5964;MQ=57.22;MQ0=0;MQRankSum=0.609;QD=13.86;ReadPosRankSum=0.619;VQSLOD=3.8684;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:59,60:119:99:1679,0,1467 1 24460797 24460797 T G exonic IL22RA1 synonymous SNV IL22RA1:NM_021258:exon4:c.A435C:p.P145P 0.52 0.7 0.46 0.3 0.61 0.47 0.5715 0.6933 0.3874 0.3207 0.6353 0.6206 0.5940 0.5289 0.63 0.69 0.6 0.55 0.7 rs17852649 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5612 0.6955 0.4086 0.6564 0.3132 0.6330 0.6125 0.5843 0.5247 0.6248 0.7021 0.4567 0.6854 0.3122 0.6252 0.6229 0.6020 het 1219.14 91 1 24460797 . T G 1219.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.766;DP=91;Dels=0.00;FS=1.674;HRun=2;HaplotypeScore=1.8937;MQ=59.49;MQ0=0;MQRankSum=-0.472;QD=13.40;ReadPosRankSum=2.159;VQSLOD=6.0112;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:44,47:91:99:1249,0,1234 1 24465113 24465113 C T exonic IL22RA1 synonymous SNV IL22RA1:NM_021258:exon2:c.G135A:p.P45P 0.47 0.26 0.52 0.76 0.36 0.53 0.4218 0.2723 0.6095 0.7316 0.3558 0.3667 0.3894 0.4733 0.34 0.27 0.38 0.41 0.3 rs10903022 COSM3746889 2(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4294 0.2656 0.5862 0.3207 0.7358 0.3580 0.3723 0.4010 0.4674 0.3584 0.2588 0.5335 0.3079 0.7407 0.3668 0.3629 0.3806 het 1325.22 78 1 24465113 . C T 1325.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.901;DP=78;Dels=0.00;FS=0.895;HRun=0;HaplotypeScore=2.8612;MQ=59.52;MQ0=0;MQRankSum=0.568;QD=16.99;ReadPosRankSum=1.089;VQSLOD=6.0788;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,50:78:99:1355,0,609 1 24496085 24496085 G A exonic IFNLR1 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 0.12 0.29 0.043 0.033 0.042 0.097 0.0609 0.2588 0.0271 0.0370 0.0147 0.0355 0.0576 0.0974 0.11 0.24 0.037 0.14 0.049 rs34654982 COSM4415269 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0536 0.2610 0.0284 0.0513 0.0327 0.0130 0.0354 0.0466 0.0856 0.0961 0.2677 0.0370 0.0430 0.0197 0.0109 0.0320 0.0489 het 1356.40 116 1 24496085 . G A 1356.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.684;DP=116;Dels=0.00;FS=1.590;HRun=0;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;MQRankSum=1.945;QD=11.69;ReadPosRankSum=0.866;VQSLOD=5.6683;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,54:116:99:1386,0,1704 1 24785393 24785393 C T exonic NIPAL3 synonymous SNV NIPAL3:NM_001322860:exon6:c.C306T:p.A102A,NIPAL3:NM_001322861:exon6:c.C306T:p.A102A,NIPAL3:NM_001322859:exon7:c.C306T:p.A102A,NIPAL3:NM_001322864:exon8:c.C786T:p.A262A,NIPAL3:NM_001322854:exon9:c.C789T:p.A263A,NIPAL3:NM_001322857:exon9:c.C789T:p.A263A,NIPAL3:NM_001322863:exon9:c.C543T:p.A181A,NIPAL3:NM_001322866:exon9:c.C762T:p.A254A,NIPAL3:NM_020448:exon9:c.C789T:p.A263A,NIPAL3:NM_001322855:exon10:c.C789T:p.A263A,NIPAL3:NM_001322856:exon10:c.C789T:p.A263A,NIPAL3:NM_001322858:exon10:c.C306T:p.A102A,NIPAL3:NM_001322862:exon10:c.C543T:p.A181A,NIPAL3:NM_001330409:exon10:c.C789T:p.A263A 0.31 0.16 0.44 0.45 0.28 0.29 0.2959 0.1677 0.4834 0.4564 0.2542 0.2692 0.2885 0.2867 0.23 0.16 0.26 0.29 0.17 rs2272935 COSM3746895;COSM3746894 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3037 0.1663 0.4611 0.3073 0.4624 0.2551 0.2639 0.3137 0.2879 0.2522 0.1705 0.4368 0.3046 0.4666 0.2506 0.2628 0.2926 het 1472.87 136 1 24785393 . C T 1472.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.210;DP=136;Dels=0.00;FS=1.397;HRun=1;HaplotypeScore=3.9084;MQ=59.40;MQ0=0;MQRankSum=-0.378;QD=10.83;ReadPosRankSum=-0.176;VQSLOD=6.1181;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,57:136:99:1503,0,2103 1 24859617 24859617 G A exonic RCAN3 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 0.38 0.25 0.33 0.68 0.32 0.37 0.3597 0.2613 0.3410 0.6500 0.328 0.3373 0.3455 0.3895 0.3 0.27 0.32 0.3 0.22 rs196429 COSM3746902 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3352 0.2548 0.2993 0.2722 0.6377 0.3106 0.3228 0.3200 0.3408 0.3236 0.2625 0.2983 0.2649 0.6475 0.3138 0.3286 0.3320 het 642.96 46 1 24859617 . G A 642.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.315;DP=46;Dels=0.00;FS=1.988;HRun=0;HaplotypeScore=2.7743;MQ=59.50;MQ0=0;MQRankSum=0.634;QD=13.98;ReadPosRankSum=0.603;VQSLOD=6.2995;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:17,25:46:99:673,0,357 1 24859665 24859665 G A exonic RCAN3 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 0.38 0.25 0.33 0.68 0.32 0.37 0.3552 0.2603 0.3417 0.6501 0.3245 0.3346 0.3456 0.3659 0.3 0.27 0.32 0.3 0.22 rs196430 COSM3746903 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3445 0.2576 0.3155 0.2855 0.6430 0.3146 0.3294 0.3314 0.3583 0.3238 0.2641 0.3005 0.2649 0.6461 0.3139 0.3282 0.3313 het 1052.65 76 1 24859665 . G A 1052.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.916;DP=76;Dels=0.00;FS=3.172;HRun=0;HaplotypeScore=4.9350;MQ=58.56;MQ0=0;MQRankSum=1.775;QD=13.85;ReadPosRankSum=0.578;VQSLOD=4.9995;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:38,38:76:99:1083,0,876 1 24861704 24861704 G A exonic RCAN3 nonsynonymous SNV RCAN3:NM_001251985:exon2:c.G317A:p.R106Q,RCAN3:NM_001251982:exon3:c.G491A:p.R164Q 0.51 0.47 0.4 0.73 0.46 0.47 0.4822 0.4614 0.3865 0.7088 0.5061 0.4726 0.4525 0.4742 0.46 0.46 0.46 0.45 0.3 rs196432 COSM1341222 1(large_intestine) . . . . . . . . . . . 1.0 0.021 T 0.014 0.156 B 0.005 0.104 B . . . 1.000 0.588 P . . . . . . 0.68 0.070 N . . -1.029 0.207 T 0.000 0.000 T . . . 0.365 0.129 6.307 0.872 0.165 0.036 0.087 N c -2.199 -2.346 1.0 0.983 0.652 0.477 0 -11.6 0.000 -3.514 0.005 -2.227 0.004 0.000 0.063 0.080 0.181 9.401 0.374 Nucleotide-binding alpha-beta plait domain ENSG00000001461.12 Thyroid 0.4716 0.4608 0.3745 0.3810 0.7079 0.4946 0.4706 0.4547 0.4691 0.4811 0.4594 0.3711 0.3933 0.7036 0.4851 0.4767 0.4807 het 763.80 50 1 24861704 . G A 763.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.808;DP=50;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=-0.934;QD=15.28;ReadPosRankSum=-0.253;VQSLOD=6.3753;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,27:50:99:794,0,542 1 25291010 25291010 A T exonic RUNX3 nonsynonymous SNV RUNX3:NM_001031680:exon1:c.T53A:p.I18N,RUNX3:NM_001320672:exon2:c.T53A:p.I18N 0.58 0.39 0.72 0.69 0.52 0.68 0.5703 0.4606 0.7847 0.7180 0.5685 0.4982 0.6003 0.6853 0.46 0.42 0.48 0.48 0.42 rs6672420 COSM3751117 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.013 0.538 D 1.0 0.899 D 0.994 0.807 D 0.414 0.046 N 0.783 0.293 P . . . -4.2 0.969 D -2.02 0.465 N 0.11 0.118 -0.903 0.477 T 0.000 0.000 T . . . 3.109 0.433 22.5 0.970 0.312 0.944 0.607 D c 0.446 0.455 1.000 0.747 0.497 0.185 0 5.67 0.876 5.815 0.687 1.199 0.960 1.000 0.715 0.931 0.405 12.316 0.541 . . . 0.5599 0.4203 0.7517 0.5046 0.7106 0.5332 0.4753 0.5568 0.6737 0.4953 0.4242 0.7208 0.4934 0.7395 0.5298 0.4873 0.5318 het 533.54 32 1 25291010 . A T 533.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.061;DP=32;Dels=0.00;FS=6.205;HRun=1;HaplotypeScore=0.9983;MQ=58.83;MQ0=0;MQRankSum=-0.305;QD=16.67;ReadPosRankSum=0.996;VQSLOD=4.0617;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:10,22:32:99:564,0,247 1 25570081 25570081 T C exonic RSRP1 nonsynonymous SNV RSRP1:NM_001321772:exon4:c.A716G:p.E239G,RSRP1:NM_020317:exon4:c.A716G:p.E239G 0.11 0.013 0.21 0.033 0.27 0.073 0.1996 0.0465 0.1331 0.0240 0.2628 0.2731 0.2274 0.1111 0.2 0.054 0.27 0.054 0.23 rs1043879 COSM5001454 1(pancreas) . . . . . . . . . . . 0.007 0.599 D 0.087 0.234 B 0.063 0.256 B 0.290 0.148 N 0.921 0.273 P 1.15 0.294 L 1.36 0.344 T -3.87 0.726 D 0.067 0.243 -1.036 0.185 T 0.000 0.000 T . . . 2.968 0.417 22.1 0.993 0.588 0.774 0.377 D c -0.407 -0.378 1.000 0.747 0.719 0.830 0 3.97 0.451 1.992 0.401 1.011 0.635 1.000 0.715 0.483 0.268 8.521 0.323 . ENSG00000187010.14|ENSG00000187010.14|ENSG00000188672.12|ENSG00000187010.14|ENSG00000224183.1|ENSG00000183726.6|ENSG00000187010.14|ENSG00000188672.12|ENSG00000187010.14|ENSG00000188672.12|ENSG00000188672.12|ENSG00000188672.12|ENSG00000224183.1|ENSG00000187010.14|ENSG00000188672.12|ENSG00000183726.6|ENSG00000187010.14|ENSG00000188672.12|ENSG00000187010.14|ENSG00000188672.12|ENSG00000224183.1|ENSG00000187010.14|ENSG00000204178.5|ENSG00000188672.12|ENSG00000187010.14|ENSG00000259984.1 Adipose_Subcutaneous|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2030 0.0436 0.1487 0.3812 0.0218 0.2616 0.2655 0.2355 0.1110 0.1827 0.0485 0.1814 0.44 0.0216 0.2692 0.2505 0.2214 het 1509.97 120 1 25570081 . T C 1509.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.755;DP=120;Dels=0.00;FS=1.494;HRun=1;HaplotypeScore=0.9995;MQ=59.27;MQ0=0;MQRankSum=1.059;QD=12.58;ReadPosRankSum=-0.658;VQSLOD=6.7439;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,65:120:99:1540,0,1243 1 25572984 25572984 T G exonic RSRP1 nonsynonymous SNV RSRP1:NM_001321772:exon2:c.A471C:p.R157S,RSRP1:NM_020317:exon2:c.A471C:p.R157S 0.015 . 0.0072 . 0.043 0.03 0.0344 0.0071 0.0130 0.0002 0.0668 0.0410 0.0343 0.0449 0.028 0.0061 0.04 . 0.057 rs34484514 . . . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.994 0.807 D 0.001 0.432 D 1.000 0.090 N 1.935 0.520 L 0.06 0.672 T -5.45 0.854 D 0.278 0.341 -0.583 0.655 T 0.132 0.444 T . . . 4.441 0.595 24.2 0.985 0.422 0.093 0.149 N c -0.406 -0.703 1.000 0.747 0.628 0.401 0 -4.75 0.030 -1.872 0.017 0.141 0.225 0.001 0.137 0.330 0.242 13.205 0.590 . ENSG00000261349.1|ENSG00000261349.1|ENSG00000261349.1 Artery_Tibial|Esophagus_Mucosa|Thyroid 0.0343 0.0067 0.0141 0.0245 0.0002 0.0610 0.0422 0.0325 0.0444 0.0345 0.0066 0.0191 0.0099 0 0.0578 0.0505 0.0337 het 2503.17 232 1 25572984 . T G 2503.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.768;DP=232;DS;Dels=0.00;FS=2.291;HRun=0;HaplotypeScore=3.8192;MQ=59.44;MQ0=0;MQRankSum=1.338;QD=10.79;ReadPosRankSum=-0.348;VQSLOD=5.6684;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:135,97:232:99:2533,0,3534 1 25889632 25889632 T C exonic LDLRAP1 nonsynonymous SNV LDLRAP1:NM_015627:exon6:c.T604C:p.S202P 0.43 0.32 0.51 0.44 0.52 0.44 0.5011 0.3527 0.5547 0.4507 0.5026 0.5376 0.5223 0.4334 0.47 0.34 0.53 0.33 0.52 rs6687605 COSM4440827 2(large_intestine) Benign|Benign Familial_hypercholesterolemia|not_specified RCV000386734.1|RCV000427792.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen C0020445:143890:397915002:398036000|CN169374 . . . . . . 0.14 0.256 T 0.079 0.230 B 0.048 0.236 B 0.252 0.155 N 1 0.090 P 1.755 0.458 L 0.36 0.579 T -0.76 0.212 N 0.023 0.006 -0.928 0.445 T 0.000 0.000 T . . . -1.042 0.030 0.013 0.596 0.061 0.021 0.061 N c -1.872 -1.900 1.000 0.517 0.646 0.450 0 -2.44 0.061 -0.666 0.053 -2.495 0.003 0.000 0.063 0.000 0.016 2.213 0.037 . ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7|ENSG00000157978.7 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hippocampus|Breast_Mammary_Tissue|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Ovary|Pancreas|Spleen|Thyroid|Whole_Blood 0.5055 0.3506 0.5521 0.5818 0.4496 0.5021 0.5346 0.5290 0.4316 0.4730 0.3534 0.5421 0.5960 0.4418 0.4860 0.5351 0.4969 hom 1409.68 45 1 25889632 . T C 1409.68 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=1.8646;MQ=59.03;MQ0=0;QD=31.33;VQSLOD=9.5429;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1443,114,0 1 25890189 25890189 A G exonic LDLRAP1 synonymous SNV LDLRAP1:NM_015627:exon7:c.A654G:p.T218T 0.59 0.83 0.6 0.44 0.53 0.45 0.5515 0.7906 0.5881 0.4524 0.5021 0.5497 0.5682 0.4533 0.63 0.78 0.56 0.55 0.59 rs28969504 COSM3751120 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign|Benign Familial_hypercholesterolemia|not_specified RCV000329172.1|RCV000435861.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen C0020445:143890:397915002:398036000|CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5492 0.7968 0.5897 0.6212 0.4510 0.5040 0.5471 0.5655 0.4513 0.6038 0.7868 0.5967 0.6258 0.4431 0.4880 0.5469 0.5244 hom 1936.26 68 1 25890189 . A G 1936.26 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.39;MQ0=0;QD=28.47;VQSLOD=8.5979;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:68:99:1969,162,0 1 26131654 26131654 G A exonic SELENON unknown UNKNOWN 0.84 0.75 0.89 0.94 0.78 0.9 0.8144 0.7804 0.9150 0.9416 0.7282 0.7777 0.8158 0.8805 . . . 0.76 0.7 rs7349185 COSM4594405 1(upper_aerodigestive_tract) Benign|Benign not_specified|SEPN1-Related_Disorders RCV000082016.9|RCV000371932.1 MedGen|MedGen CN169374|CN239420 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.076 0.212 N 1 0.090 P 1.1 0.281 L 0.68 0.520 T 2.8 0.002 N 0.07 0.236 -0.907 0.472 T 0.000 0.000 T . . . -0.989 0.032 0.017 0.318 0.018 0.008 0.031 N c -1.121 -1.048 1.000 0.517 0.696 0.567 0 1.58 0.224 0.869 0.275 0.241 0.266 0.358 0.256 0.906 0.385 0.970 0.013 . ENSG00000272478.1|ENSG00000117640.13|ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000162430.12|ENSG00000228172.1|ENSG00000162430.12 Artery_Tibial|Artery_Tibial|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Thyroid 0.8181 0.7786 0.9056 0.7882 0.9425 0.7230 0.7833 0.8128 0.8774 0.7820 0.7789 0.9007 0.7781 0.9363 0.7357 0.7726 0.7643 hom 3932.86 128 1 26131654 . G A 3932.86 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.705;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3714;MQ=58.46;MQ0=0;MQRankSum=1.596;QD=30.73;ReadPosRankSum=0.832;VQSLOD=5.6727;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,127:128:99:3932,340,0 1 26136282 26136282 C T exonic SELENON unknown UNKNOWN 0.01 0.0008 0.019 . 0.031 0.0061 0.0251 0.0085 0.0195 0 0.0144 0.0379 0.0167 0.0052 0.031 0.0095 0.042 0.011 0.066 rs147587542 COSM5653779 1(haematopoietic_and_lymphoid_tissue) other|Likely benign not_specified|SEPN1-Related_Disorders RCV000082021.9|RCV000406527.1 MedGen|MedGen CN169374|CN239420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0256 0.0075 0.0196 0.0227 0 0.0181 0.0411 0.0261 0.0054 0.0298 0.0086 0.0167 0.0265 0 0.0226 0.0476 0.0336 het 2406.70 188 1 26136282 . C T 2406.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.604;DP=188;Dels=0.00;FS=8.496;HRun=0;HaplotypeScore=6.5302;MQ=59.75;MQ0=0;MQRankSum=0.504;QD=12.80;ReadPosRankSum=0.323;VQSLOD=2.8976;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,91:188:99:2437,0,2277 1 26138262 26138262 T C exonic SELENON unknown UNKNOWN 0.79 0.56 0.85 0.97 0.78 0.9 0.8132 0.6368 0.9016 0.9641 0.7717 0.7917 0.8045 0.8825 0.74 0.63 0.79 0.74 0.45 rs760597 COSM1127046 1(oesophagus);1(prostate) Benign|Benign not_specified|SEPN1-Related_Disorders RCV000082009.8|RCV000358370.1 MedGen|MedGen CN169374|CN239420 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8096 0.6070 0.8895 0.7706 0.9651 0.7417 0.7843 0.8128 0.8773 0.7396 0.6114 0.8819 0.7450 0.9667 0.7547 0.7761 0.7664 hom 517.83 18 1 26138262 . T C 517.83 Mask AC=2;AF=1.00;AN=2;DP=18;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=57.90;MQ0=0;QD=28.77;VQSLOD=8.3958;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,18:18:42.13:551,42,0 1 26140573 26140573 C A exonic SELENON unknown UNKNOWN 0.7 0.21 0.83 0.97 0.78 0.9 0.7747 0.2938 0.8902 0.9643 0.7486 0.7769 0.7964 0.8804 0.63 0.32 0.79 0.55 0.72 rs2294228 COSM4143697 1(thyroid) Benign|Benign not_specified|SEPN1-Related_Disorders RCV000082012.8|RCV000299948.1 MedGen|MedGen CN169374|CN239420 . . . . . . 0.053 0.491 T 0.0 0.026 B 0.001 0.040 B 0.054 0.228 N 0.999 0.361 P 1.525 0.387 L -2.36 0.882 D -1.8 0.526 N 0.012 0.071 -0.998 0.306 T 0.000 0.000 T . . . 2.958 0.416 22.1 0.978 0.356 0.368 0.254 N c -0.749 -0.748 0.983 0.304 0.672 0.522 0 2.58 0.299 0.140 0.158 0.023 0.146 0.718 0.286 0.032 0.149 7.686 0.275 . ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000162430.12|ENSG00000117640.13|ENSG00000272478.1|ENSG00000117640.13|ENSG00000272478.1|ENSG00000162430.12|ENSG00000117640.13|ENSG00000228172.1|ENSG00000272478.1|ENSG00000117640.13 Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Thyroid|Thyroid 0.7861 0.2900 0.8782 0.7697 0.9655 0.7439 0.7829 0.7973 0.8771 0.6485 0.2947 0.8513 0.7450 0.9654 0.7549 0.7748 0.7526 hom 3451.44 111 1 26140573 . C A 3451.44 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.4833;MQ=58.45;MQ0=0;QD=31.09;VQSLOD=7.9826;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:111:99:3451,280,0 1 26357656 26357656 C A exonic EXTL1 nonsynonymous SNV EXTL1:NM_004455:exon5:c.C1135A:p.H379N 0.59 0.2 0.73 0.75 0.7 0.76 0.6742 0.2742 0.7677 0.7315 0.8157 0.6854 0.7192 0.7263 0.55 0.29 0.68 0.45 0.69 rs2736831 . . . . . . . . . . . . . 0.083 0.330 T 0.029 0.185 B 0.01 0.139 B 0.019 0.273 N 0.557 0.313 P 1.59 0.404 L -3.54 0.948 D -0.84 0.229 N 0.057 0.040 -0.903 0.477 T 0.000 0.000 T . . . 3.943 0.531 23.5 0.971 0.320 0.677 0.333 D c -0.449 -0.398 1.000 0.747 0.516 0.203 0 4.7 0.586 1.364 0.336 0.935 0.490 0.001 0.137 0.810 0.339 16.601 0.846 . ENSG00000158008.5|ENSG00000158008.5|ENSG00000158006.9|ENSG00000142675.13|ENSG00000158014.10|ENSG00000158022.6 Artery_Aorta|Cells_Transformed_fibroblasts|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.6864 0.2688 0.7504 0.5917 0.7204 0.8187 0.6896 0.6960 0.7266 0.6026 0.2823 0.7237 0.5828 0.7333 0.8200 0.7103 0.7188 het 1553.27 136 1 26357656 . C A 1553.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.629;DP=136;Dels=0.00;FS=0.647;HRun=1;HaplotypeScore=3.6155;MQ=59.42;MQ0=0;MQRankSum=0.350;QD=11.42;ReadPosRankSum=-0.390;VQSLOD=6.4296;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,64:136:99:1583,0,1867 1 26392824 26392824 C A exonic TRIM63 synonymous SNV TRIM63:NM_032588:exon2:c.G267T:p.V89V 0.018 0.003 0.029 . 0.065 0.0031 0.0529 0.0135 0.0286 0 0.0604 0.0801 0.0509 0.0102 0.061 0.016 0.084 0.022 0.11 rs35123100 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0545 0.0126 0.0300 0.0541 0 0.0655 0.0864 0.0498 0.0105 0.0659 0.0140 0.0322 0.0596 0 0.0698 0.1033 0.0825 het 1396.98 103 1 26392824 . C A 1396.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.974;DP=103;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7320;MQ=59.33;MQ0=0;MQRankSum=0.274;QD=13.56;ReadPosRankSum=0.182;VQSLOD=6.3759;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,54:103:99:1427,0,1337 1 26487940 26487940 A G exonic FAM110D nonsynonymous SNV FAM110D:NM_024869:exon2:c.A158G:p.H53R 0.19 0.04 0.23 0.27 0.33 0.13 0.3310 0.1086 0.3640 0.3656 0.4848 0.4094 0.3195 0.1898 0.22 0.069 0.3 0.14 0.066 rs3748856 COSM3749044 3(large_intestine) . . . . . . . . . . . 0.531 0.070 T 0.677 0.394 P 0.326 0.402 B 0.070 0.216 U 0.894 0.278 P 1.32 0.331 L 1.08 0.394 T -1.48 0.362 N 0.096 0.097 -0.947 0.416 T 0.000 0.000 T . . . 1.147 0.205 11.47 0.706 0.091 0.229 0.217 N c -0.364 -0.329 1.000 0.747 0.658 0.486 0 4.42 0.526 0.582 0.234 1.005 0.623 0.041 0.208 0.790 0.333 13.078 0.583 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000236782.1|ENSG00000175087.5|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.2722 0.0688 0.2351 0.2480 0.2787 0.3688 0.3276 0.2863 0.1680 0.2486 0.0707 0.2266 0.2517 0.2824 0.3548 0.3224 0.2863 het 45.74 10 1 26487940 . A G 45.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.422;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.66;MQ0=0;MQRankSum=0.248;QD=4.57;ReadPosRankSum=1.422;VQSLOD=4.3872;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:6,4:10:75.74:76,0,148 1 26520292 26520292 G T exonic CATSPER4 nonsynonymous SNV CATSPER4:NM_198137:exon3:c.G372T:p.L124F 0.023 0.0023 0.036 . 0.084 0.0051 0.0539 0.0135 0.0274 0 0.0803 0.0799 0.0552 0.0104 0.064 0.015 0.089 0.022 0.098 rs12138368 . . . . . . . . . . . . . 0.189 0.212 T 0.005 0.119 B 0.007 0.121 B 0.023 0.265 N 0.992 0.239 N 1.935 0.520 L -4.45 0.975 D -0.89 0.240 N 0.125 0.261 -0.465 0.699 T 0.103 0.381 T . . . 1.160 0.206 11.54 0.950 0.254 0.834 0.422 D c -0.931 -0.806 0.000 0.029 0.581 0.326 0 -1.38 0.085 0.056 0.140 -0.743 0.035 0.996 0.391 0.975 0.474 4.688 0.121 Ion transport domain ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000176092.9|ENSG00000142684.7|ENSG00000236782.1|ENSG00000176092.9|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.0561 0.0130 0.0298 0.0533 0 0.0840 0.0858 0.0501 0.0112 0.0671 0.0143 0.0335 0.0596 0 0.0859 0.1014 0.0878 het 2261.09 157 1 26520292 . G T 2261.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.185;DP=157;Dels=0.00;FS=2.063;HRun=2;HaplotypeScore=1.8519;MQ=59.47;MQ0=0;MQRankSum=-1.166;QD=14.40;ReadPosRankSum=-0.641;VQSLOD=6.2685;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,90:157:99:2291,0,1882 1 26527884 26527884 G A exonic CATSPER4 synonymous SNV CATSPER4:NM_198137:exon9:c.G1239A:p.E413E 0.023 0.0023 0.036 . 0.081 0.0051 0.0534 0.0129 0.0273 0 0.0813 0.0790 0.0543 0.0106 0.063 0.015 0.088 0.011 0.057 rs41310785 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0556 0.0124 0.0297 0.0532 0 0.0862 0.0845 0.0492 0.0112 0.0664 0.0140 0.0346 0.0596 0 0.0875 0.0998 0.0881 het 2261.82 153 1 26527884 . G A 2261.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.693;DP=153;Dels=0.00;FS=2.389;HRun=1;HaplotypeScore=0.9992;MQ=59.51;MQ0=0;MQRankSum=-2.622;QD=14.78;ReadPosRankSum=-0.266;VQSLOD=4.6266;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,82:153:99:2292,0,1956 1 26527951 26527951 G A exonic CATSPER4 nonsynonymous SNV CATSPER4:NM_198137:exon9:c.G1306A:p.D436N 0.21 0.37 0.17 0.022 0.27 0.16 0.2235 0.3474 0.1109 0.0178 0.2753 0.2563 0.2203 0.1795 0.29 0.34 0.26 0.29 0.28 rs6657616 COSM4143709 1(thyroid) . . . . . . . . . . . 0.084 0.329 T 0.779 0.423 P 0.251 0.373 B 0.029 0.255 N 1 0.090 P 1.905 0.510 L -4.39 0.974 D -0.9 0.242 N 0.011 0.072 -1.190 0.002 T 0.000 0.000 T . . . 1.510 0.244 13.37 0.996 0.735 0.083 0.141 N c -0.335 -0.415 1.0 0.983 0.534 0.214 0 3.1 0.346 1.710 0.373 0.998 0.613 0.052 0.213 0.003 0.074 5.74 0.172 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000188782.3|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000169442.4|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hippocampus|Brain_Hippocampus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood 0.2195 0.3520 0.1166 0.2277 0.0184 0.2842 0.2608 0.2196 0.1796 0.2806 0.3563 0.1504 0.2185 0.0198 0.2872 0.2731 0.2608 het 3930.54 250 1 26527951 . G A 3930.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.070;DP=250;DS;Dels=0.00;FS=0.470;HRun=1;HaplotypeScore=6.3014;MQ=59.00;MQ0=0;MQRankSum=0.496;QD=15.72;ReadPosRankSum=0.287;VQSLOD=4.1927;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:113,137:250:99:3345,0,2837 1 26582091 26582091 G A exonic CEP85 nonsynonymous SNV CEP85:NM_001281517:exon3:c.G485A:p.S162N,CEP85:NM_001319944:exon4:c.G638A:p.S213N,CEP85:NM_022778:exon4:c.G638A:p.S213N 0.19 0.058 0.24 0.26 0.3 0.13 0.2533 0.0867 0.2539 0.2477 0.2994 0.3003 0.2720 0.1515 0.24 0.095 0.31 0.21 0.25 rs3795686 COSM3997449 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.646 0.049 T 0.0 0.026 B 0.001 0.040 B 0.000 0.460 D 0.995 0.233 P -0.205 0.041 N 2.78 0.113 T -0.42 0.144 N 0.002 0.000 -0.933 0.437 T 0.000 0.000 T . . . -1.101 0.028 0.010 0.679 0.082 0.032 0.081 N c -1.174 -1.058 0.235 0.185 0.707 0.730 0 4.24 0.493 1.935 0.396 0.201 0.252 0.732 0.287 0.281 0.234 9.919 0.404 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000158062.16|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid 0.2596 0.0809 0.2547 0.2700 0.2520 0.3014 0.3052 0.2943 0.1530 0.2318 0.0879 0.2428 0.2881 0.2369 0.2956 0.2959 0.2688 het 2183.70 222 1 26582091 . G A 2183.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.662;DP=222;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.53;MQ0=0;MQRankSum=1.390;QD=9.84;ReadPosRankSum=0.746;VQSLOD=6.6861;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:130,92:222:99:2214,0,3520 1 26609259 26609259 C T exonic UBXN11 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 0.38 0.32 0.39 0.31 0.63 0.29 0.5273 0.3816 0.3836 0.29 0.5957 0.6443 0.5478 0.3371 0.58 0.42 0.66 0.43 0.62 rs7522905 COSM4143717 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5252 0.3741 0.3977 0.6179 0.2920 0.5966 0.6482 0.5698 0.3352 0.5362 0.3862 0.4330 0.6026 0.2797 0.5967 0.6387 0.5786 hom 3999.62 130 1 26609259 . C T 3999.62 Mask AC=2;AF=1.00;AN=2;DP=130;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7741;MQ=59.39;MQ0=0;QD=30.77;VQSLOD=7.7153;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,130:130:99:3999,316,0 1 26610891 26610891 A C exonic UBXN11 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 0.73 0.88 0.69 0.46 0.93 0.61 0.8276 0.8816 0.6272 0.4478 0.9031 0.9342 0.8618 0.6702 0.92 0.88 0.94 0.81 0.83 rs4332350 COSM3997450 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.555 0.068 T 0.0 0.026 B 0.0 0.013 B 0.372 0.044 N 1 0.090 P -2.2 0.001 N 2.35 0.162 T 1.45 0.009 N 0.055 0.326 -1.021 0.235 T 0.000 0.000 T . . . -0.960 0.033 0.019 0.644 0.073 0.003 0.018 N c -1.632 -1.597 1.000 0.747 0.722 0.854 0 -2.06 0.069 -0.358 0.076 -0.459 0.055 0.000 0.063 0.301 0.237 3.125 0.060 SEP domain ENSG00000130695.9|ENSG00000130695.9 Heart_Atrial_Appendage|Heart_Left_Ventricle 0.8220 0.8828 0.6537 0.9412 0.4420 0.9095 0.9348 0.8641 0.6710 0.8825 0.8874 0.6950 0.9139 0.4488 0.9082 0.9313 0.8684 hom 2102.03 72 1 26610891 . A C 2102.03 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.33;MQ0=0;QD=29.19;VQSLOD=8.5990;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2135,177,0 1 26646726 26646726 A G exonic CD52 nonsynonymous SNV CD52:NM_001803:exon2:c.A119G:p.N40S 0.58 0.63 0.58 0.44 0.74 0.5 0.6711 0.6561 0.5513 0.4292 0.6992 0.7541 0.7004 0.5422 0.73 0.67 0.77 0.65 0.72 rs1071849 COSM1180632 1(thyroid);1(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.009 0.139 B 0.007 0.121 B 0.493 0.120 N 1 0.090 P . . . 1.72 0.266 T -1.44 0.354 N 0.02 0.004 -1.013 0.260 T 0.000 0.000 T . . . 0.422 0.135 6.804 0.853 0.153 0.010 0.038 N c -1.074 -1.161 1.000 0.467 0.628 0.401 0 -1.87 0.073 0.160 0.162 -0.126 0.112 0.000 0.063 0.000 0.016 4.278 0.102 . ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000158062.16|ENSG00000169442.4 Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Whole_Blood 0.6692 0.6558 0.5715 0.7643 0.4228 0.7058 0.7561 0.7109 0.5397 0.6982 0.6600 0.5947 0.7517 0.4265 0.7104 0.7523 0.6895 hom 3528.38 110 1 26646726 . A G 3528.38 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.644;DP=110;Dels=0.00;FS=3.100;HRun=0;HaplotypeScore=1.9963;MQ=59.60;MQ0=0;MQRankSum=-0.548;QD=32.08;ReadPosRankSum=-0.839;VQSLOD=4.5735;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:2,108:110:99:3457,202,0 1 26646730 26646730 A G exonic CD52 nonsynonymous SNV CD52:NM_001803:exon2:c.A123G:p.I41M 0.58 0.63 0.58 0.44 0.74 0.5 0.6711 0.6562 0.5514 0.4293 0.6992 0.7541 0.7004 0.5423 0.73 0.67 0.77 0.65 0.72 rs17645 COSM1180633 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 0.294 0.148 T 0.0 0.026 B 0.001 0.040 B 0.258 0.037 N 1 0.090 P . . . 1.53 0.304 T -0.68 0.195 N 0.062 0.047 -0.972 0.367 T 0.000 0.000 T . . . -0.605 0.050 0.122 0.315 0.018 0.002 0.010 N c -1.118 -1.127 1.000 0.517 0.628 0.401 0 3.42 0.381 0.094 0.148 -0.760 0.034 0.000 0.063 0.000 0.016 7.166 0.247 . ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000169442.4|ENSG00000158062.16|ENSG00000169442.4 Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Testis|Whole_Blood 0.6692 0.6559 0.5714 0.7645 0.4225 0.7058 0.7560 0.7104 0.5395 0.6981 0.6601 0.5962 0.7517 0.4265 0.7104 0.7518 0.6895 hom 3811.80 118 1 26646730 . A G 3811.80 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.998;DP=118;Dels=0.00;FS=5.367;HRun=0;HaplotypeScore=2.8284;MQ=59.24;MQ0=0;MQRankSum=0.969;QD=32.30;ReadPosRankSum=-1.116;VQSLOD=4.2992;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,117:118:99:3775,259,0 1 26673076 26673076 G A exonic CRYBG2 nonsynonymous SNV CRYBG2:NM_001039775:exon2:c.C73T:p.R25W 0.18 0.15 0.19 0.15 0.19 0.23 0.2614 0.2089 0.2770 0.2421 0.2873 0.2633 0.26 0.2721 0.18 0.14 0.19 0.2 . rs11247924 . . . . . . . . . . . . . 0.038 0.427 D 1.0 0.899 D 0.994 0.807 D . . . 0.987 0.245 P . . . 1.97 0.221 T -6.06 0.898 D 0.272 0.330 -1.061 0.114 T 0.000 0.000 T . . . 2.971 0.417 22.1 0.999 0.987 0.150 0.185 N c 0.159 0.094 0.053 0.149 0.615 0.372 0 3.01 0.337 1.170 0.313 0.857 0.375 0.177 0.238 0.992 0.562 9.806 0.398 Gamma-crystallin-related ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000130695.9|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000130695.9|ENSG00000142684.7 Adipose_Subcutaneous|Brain_Caudate_basal_ganglia|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.1978 0.1527 0.1947 0.1921 0.1583 0.1995 0.1995 0.1855 0.2394 0.1900 0.1442 0.1802 0.2053 0.1745 0.2005 0.2164 0.1844 het 164.27 13 1 26673076 . G A 164.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.244;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.20;MQ0=0;MQRankSum=0.244;QD=12.64;ReadPosRankSum=1.134;VQSLOD=5.8604;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:5,7:13:99:194,0,119 1 26691174 26691174 C A exonic ZNF683 nonsynonymous SNV ZNF683:NM_001114759:exon4:c.G863T:p.R288L,ZNF683:NM_001307925:exon4:c.G863T:p.R288L,ZNF683:NM_173574:exon4:c.G863T:p.R288L 0.26 0.12 0.42 0.28 0.34 0.25 0.3251 0.1631 0.4042 0.2583 0.3815 0.3561 0.3377 0.2577 0.29 0.16 0.36 0.23 . rs11247933 COSM5425316;COSM5425315 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.271 0.160 T 0.006 0.126 B 0.017 0.170 B 0.061 0.021 N 1 0.090 P 0.345 0.112 N 3.01 0.096 T -1.58 0.381 N 0.086 0.081 -0.933 0.438 T 0.000 0.000 T . . . -0.206 0.076 1.067 0.724 0.097 0.027 0.073 N c -1.911 -2.018 1.000 0.448 0.598 0.340 0 -7.04 0.014 -1.690 0.020 -0.302 0.080 0.000 0.063 0.000 0.016 3.865 0.085 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000225854.2|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000197245.4|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Testis|Testis|Thyroid|Thyroid 0.3310 0.1567 0.3943 0.2655 0.2587 0.3793 0.3623 0.3584 0.2568 0.2986 0.1648 0.3807 0.2980 0.2546 0.3615 0.3595 0.3340 het 2150.76 155 1 26691174 . C A 2150.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.664;DP=155;Dels=0.00;FS=13.805;HRun=1;HaplotypeScore=7.4784;MQ=58.50;MQ0=0;MQRankSum=1.870;QD=13.88;ReadPosRankSum=0.009;VQSLOD=2.7802;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,72:155:99:2181,0,2117 1 26691287 26691310 CCACCGAGCGCTGGGGTGCCCCAG - exonic ZNF683 nonframeshift deletion ZNF683:NM_001114759:exon4:c.727_750del:p.L243_W250del,ZNF683:NM_001307925:exon4:c.727_750del:p.L243_W250del,ZNF683:NM_173574:exon4:c.727_750del:p.L243_W250del . . . . . . 0.1017 0.3078 0.0476 0.0439 0.0809 0.0863 0.1012 0.1146 . . . . . rs372936882 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0951 0.3106 0.0509 0.0605 0.0421 0.0861 0.0903 0.0831 0.0991 0.1567 0.3126 0.0585 0.0728 0.0557 0.0895 0.1035 0.1012 het 1193.20 45 1 26691286 . CCCACCGAGCGCTGGGGTGCCCCAG C 1193.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.295;DP=45;FS=12.290;HRun=0;HaplotypeScore=762.4881;MQ=53.27;MQ0=0;MQRankSum=-3.252;QD=26.52;ReadPosRankSum=1.409;set=variant2 GT:AD:DP:GQ:PL 0/1:37,8:45:99:1232,0,9038 1 26694245 26694245 T C exonic ZNF683 nonsynonymous SNV ZNF683:NM_001114759:exon3:c.A158G:p.H53R,ZNF683:NM_001307925:exon3:c.A158G:p.H53R,ZNF683:NM_173574:exon3:c.A158G:p.H53R 0.49 0.59 0.32 0.62 0.29 0.57 0.3934 0.5525 0.3699 0.6332 0.3430 0.3084 0.3760 0.5316 0.36 0.52 0.28 0.5 . rs10794531 COSM5463889;COSM5463890 2(large_intestine) . . . . . . . . . . . 0.234 0.180 T 0.004 0.156 B 0.003 0.093 B 0.023 0.265 N 1 0.090 P 0.895 0.225 L 3.26 0.211 T -1.93 0.773 N 0.162 0.207 -0.974 0.364 T 0.000 0.000 T . . . -1.131 0.027 0.009 0.790 0.121 0.011 0.039 N c -1.215 -1.228 0.611 0.218 0.516 0.203 0 -3.22 0.048 -1.209 0.031 -0.892 0.027 0.000 0.063 0.027 0.143 5.429 0.156 . ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142675.13|ENSG00000142675.13|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000236782.1|ENSG00000142684.7|ENSG00000142675.13|ENSG00000236782.1|ENSG00000142684.7|ENSG00000169442.4|ENSG00000236782.1|ENSG00000142684.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood 0.3599 0.5341 0.3281 0.2615 0.6261 0.3053 0.2848 0.3088 0.5067 0.3837 0.5282 0.3169 0.2616 0.6274 0.3110 0.2986 0.3532 het 168.83 15 1 26694245 . T C 168.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.150;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9789;MQ=60.00;MQ0=0;MQRankSum=-0.652;QD=11.26;ReadPosRankSum=0.428;VQSLOD=6.4286;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:199,0,156 1 26786627 26786627 G A exonic DHDDS nonsynonymous SNV DHDDS:NM_001243564:exon7:c.G655A:p.V219M,DHDDS:NM_001243565:exon7:c.G640A:p.V214M,DHDDS:NM_001319959:exon8:c.G478A:p.V160M,DHDDS:NM_024887:exon8:c.G757A:p.V253M,DHDDS:NM_205861:exon8:c.G757A:p.V253M 0.46 0.48 0.31 0.71 0.23 0.49 0.3133 0.4537 0.2753 0.7230 0.2493 0.2254 0.3128 0.4181 0.29 0.44 0.21 0.48 0.2 rs3816539 COSM146454 1(stomach);1(thyroid);1(meninges) Benign Retinitis_Pigmentosa\x2c_Recessive RCV000373487.1 MedGen CN239466 . . . . . . 0.116 0.284 T 0.001 0.090 B 0.006 0.112 B 0.143 0.182 N 1 0.090 P 0.55 0.145 N 0.93 0.441 T 0.25 0.048 N 0.028 0.298 -0.970 0.372 T 0.000 0.000 T . . . 1.997 0.301 16.19 0.950 0.253 0.506 0.285 D c -0.564 -0.504 0.086 0.160 0.707 0.730 0 -1.42 0.084 0.739 0.257 -0.720 0.036 0.908 0.314 0.041 0.157 12.092 0.529 Di-trans-poly-cis-decaprenylcistransferase-like\x2c conserved site ENSG00000117682.12|ENSG00000117676.9|ENSG00000117682.12|ENSG00000117682.12|ENSG00000117682.12 Cells_Transformed_fibroblasts|Liver|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3050 0.4527 0.2816 0.2106 0.7281 0.2421 0.2196 0.2712 0.4121 0.3034 0.4526 0.2482 0.2152 0.7121 0.2384 0.1951 0.2714 hom 3115.59 94 1 26786627 . G A 3115.59 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=33.14;VQSLOD=13.9609;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:3149,253,0 1 26879920 26879920 T C exonic RPS6KA1 synonymous SNV RPS6KA1:NM_001006665:exon6:c.T534C:p.A178A,RPS6KA1:NM_001330441:exon6:c.T459C:p.A153A,RPS6KA1:NM_002953:exon7:c.T507C:p.A169A 0.99 0.97 1. 1. 1. 1. 0.9978 0.9755 0.9995 1 0.9995 1.0000 0.9989 0.9999 0.99 0.98 1. 1. 0.97 rs4970490 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9764 0.9996 1 1 0.9993 0.9999 1 0.9999 0.9931 0.9759 1 1 1 0.9991 0.9999 1 hom 5711.34 202 1 26879920 . T C 5711.34 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.663;DP=202;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=7.6333;MQ=58.78;MQ0=0;MQRankSum=1.316;QD=28.27;ReadPosRankSum=1.628;VQSLOD=4.6618;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,201:202:99:5710,448,0 1 26887592 26887592 T C exonic RPS6KA1 synonymous SNV RPS6KA1:NM_001006665:exon15:c.T1425C:p.Y475Y,RPS6KA1:NM_001330441:exon15:c.T1350C:p.Y450Y,RPS6KA1:NM_002953:exon16:c.T1398C:p.Y466Y 0.51 0.51 0.36 0.76 0.29 0.59 0.3793 0.4831 0.4282 0.7558 0.2954 0.2827 0.3722 0.5064 0.33 0.46 0.26 0.54 0.27 rs1064196 COSM4143734;COSM4143733 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3740 0.4926 0.4220 0.2939 0.7629 0.2879 0.2747 0.3358 0.4999 0.3557 0.4900 0.3768 0.2483 0.7488 0.2905 0.2534 0.3227 hom 3095.79 110 1 26887592 . T C 3095.79 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.66;MQ0=0;QD=28.14;VQSLOD=7.7406;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3129,250,0 1 27210721 27210721 T C exonic GPN2 nonsynonymous SNV GPN2:NM_018066:exon4:c.A790G:p.R264G 0.87 0.98 0.83 1. 0.63 0.89 0.7320 0.9285 0.8590 0.9985 0.6239 0.6262 0.7241 0.8503 0.72 0.92 0.63 0.87 0.75 rs3170660 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.917 0.273 P -2.11 0.002 N 2.37 0.190 T 6.16 0.000 N 0.104 0.166 -0.920 0.456 T 0.000 0.000 T . . . 1.739 0.270 14.63 0.400 0.028 0.307 0.239 N c -0.598 -0.354 1.000 0.500 0.707 0.730 0 5.48 0.806 5.865 0.691 0.040 0.155 1.000 0.715 0.827 0.345 14.182 0.650 . . . 0.7310 0.9337 0.8410 0.6446 0.9984 0.6323 0.6248 0.7055 0.8485 0.7372 0.9318 0.8103 0.6291 0.9994 0.6097 0.6265 0.6865 het 1029.73 73 1 27210721 . T C 1029.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.323;DP=73;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.7740;MQ=58.47;MQ0=0;MQRankSum=-0.225;QD=14.11;ReadPosRankSum=1.182;VQSLOD=5.6933;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,40:73:99:1060,0,921 1 27332521 27332521 C T exonic FAM46B nonsynonymous SNV FAM46B:NM_052943:exon2:c.G1192A:p.V398I . . . . . . 1.726e-05 0 0 0 0 3.115e-05 0 0 0.0001 . 0.0001 . . rs199549779 . . . . . . . . . . . . . 0.309 0.140 T 0.0 0.026 B 0.001 0.040 B 0.148 0.180 N 1 0.090 N 0 0.065 N 1.93 0.229 T -0.21 0.103 N 0.043 0.023 -1.072 0.089 T 0.035 0.149 T 0.004 0.100 T -1.177 0.026 0.007 0.762 0.110 0.020 0.059 N c -1.320 -1.429 1.000 0.747 0.675 0.547 0 -5.78 0.022 -0.452 0.068 -0.380 0.065 0.000 0.063 0.004 0.083 4.164 0.097 . . . 4.521e-05 0 0 0 0 0 0.0001 0 0 . . . . . . . . het 952.40 71 1 27332521 . C T 952.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.761;DP=71;Dels=0.00;FS=5.836;HRun=0;HaplotypeScore=4.6523;MQ=58.13;MQ0=0;MQRankSum=-0.172;QD=13.41;ReadPosRankSum=-0.489;VQSLOD=3.0529;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,42:71:99:982,0,740 1 27427041 27427041 T C exonic SLC9A1 synonymous SNV SLC9A1:NM_003047:exon12:c.A2205G:p.E735E 0.99 1. 0.98 1. 0.96 1. 0.9694 0.9961 0.9814 1 0.9465 0.9568 0.9626 0.9890 0.97 0.99 0.96 0.99 0.96 rs4418629 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9683 0.9957 0.9813 0.9037 1 0.9452 0.9611 0.9564 0.9884 0.9720 0.9939 0.9714 0.8874 1 0.9421 0.9657 0.9611 hom 8838.53 250 1 27427041 . T C 8838.53 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.7415;MQ=59.52;MQ0=0;QD=35.35;VQSLOD=3.6415;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8838,707,0 1 27432505 27432505 G A exonic SLC9A1 synonymous SNV SLC9A1:NM_003047:exon5:c.C1356T:p.I452I 0.0012 0.0008 0.0014 . 0.004 . 0.0027 0.0007 0.0017 0 0.0008 0.0039 0.0034 0.0016 0.0038 0.0009 0.0052 . 0.0082 rs35607809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0027 0.0005 0.0023 0.0010 0 0.0008 0.0042 0.0033 0.0018 0.0029 0.0007 0 0 0 0 0.0055 0 het 902.97 62 1 27432505 . G A 902.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.856;DP=62;Dels=0.00;FS=2.337;HRun=1;HaplotypeScore=0.7887;MQ=59.63;MQ0=0;MQRankSum=-0.163;QD=14.56;ReadPosRankSum=-0.417;VQSLOD=5.9965;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,34:62:99:933,0,705 1 27676925 27676925 G A exonic SYTL1 synonymous SNV SYTL1:NM_001193308:exon10:c.G954A:p.K318K,SYTL1:NM_032872:exon10:c.G918A:p.K306K 0.24 0.14 0.21 0.18 0.38 0.34 0.3132 0.1630 0.1564 0.1726 0.4081 0.3652 0.3215 0.3428 0.31 0.17 0.38 0.27 0.34 rs6702341 COSM3997465;COSM3997464;COSM3997466 1(breast);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3121 0.1519 0.1629 0.2740 0.1742 0.4045 0.3759 0.3091 0.3466 0.3083 0.1440 0.1839 0.2167 0.1698 0.4033 0.4029 0.3497 het 2269.45 215 1 27676925 . G A 2269.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.286;DP=215;Dels=0.00;FS=1.691;HRun=2;HaplotypeScore=9.4316;MQ=59.48;MQ0=0;MQRankSum=0.279;QD=10.56;ReadPosRankSum=-0.359;VQSLOD=3.9749;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:125,90:215:99:2299,0,3224 1 27677409 27677409 G A exonic SYTL1 nonsynonymous SNV SYTL1:NM_001193308:exon11:c.G1130A:p.G377D,SYTL1:NM_032872:exon11:c.G1094A:p.G365D 0.016 0.0015 0.037 . 0.044 0.0072 0.0210 0.0064 0.0154 0 0.0040 0.0318 0.0191 0.0090 0.027 0.007 0.037 0.033 0.016 rs113120872 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.525 0.117 N 1.000 0.090 N -1.415 0.006 N 3.1 0.083 T 1.44 0.008 N 0.035 0.317 -0.944 0.420 T 0.001 0.005 T . . . -0.735 0.043 0.060 0.844 0.147 0.041 0.094 N c -1.490 -1.383 1.000 0.747 0.726 0.872 0 -2.65 0.057 0.584 0.234 0.127 0.214 0.058 0.215 0.987 0.523 6.109 0.192 C2 domain . . 0.0207 0.0049 0.0187 0.0255 5.811e-05 0.0045 0.0323 0.0289 0.0090 0.0173 0.0047 0.0167 0.0232 0 0.0034 0.0290 0.0266 het 974.47 94 1 27677409 . G A 974.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.559;DP=94;Dels=0.00;FS=4.099;HRun=0;HaplotypeScore=2.6448;MQ=59.36;MQ0=0;MQRankSum=-0.027;QD=10.37;ReadPosRankSum=0.606;VQSLOD=5.3047;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:51,43:94:99:1004,0,1374 1 27679797 27679797 A G exonic SYTL1 nonsynonymous SNV SYTL1:NM_001193308:exon14:c.A1367G:p.Q456R,SYTL1:NM_032872:exon14:c.A1331G:p.Q444R 0.48 0.35 0.43 0.25 0.68 0.73 0.6508 0.4558 0.4485 0.3327 0.7133 0.7138 0.6661 0.7181 0.6 0.41 0.7 0.43 0.53 rs3813795 COSM4143749;COSM4143748 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.003 0.358 N 1 0.090 P -1.195 0.008 N 3.28 0.065 T 2.58 0.002 N 0.085 0.080 -0.999 0.301 T 0.000 0.000 T . . . 0.577 0.149 7.994 0.697 0.088 0.059 0.117 N c -1.111 -0.877 0.992 0.328 0.706 0.609 0 2.68 0.307 1.041 0.297 -0.221 0.097 0.134 0.232 0.996 0.625 4.745 0.123 C2 domain ENSG00000142733.10|ENSG00000174950.6 Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.5868 0.3890 0.3474 0.6657 0.2444 0.6598 0.6886 0.6047 0.7042 0.5780 0.3918 0.4296 0.6689 0.2528 0.6597 0.7061 0.6258 hom 653.94 22 1 27679797 . A G 653.94 Mask AC=2;AF=1.00;AN=2;DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=29.72;VQSLOD=13.2972;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,22:22:57.17:687,57,0 1 27679954 27679954 G A exonic SYTL1 synonymous SNV SYTL1:NM_001193308:exon14:c.G1524A:p.G508G,SYTL1:NM_032872:exon14:c.G1488A:p.G496G 0.24 0.12 0.22 0.18 0.37 0.35 0.3509 0.1870 0.2157 0.1983 0.4540 0.3958 0.3567 0.3773 0.29 0.16 0.36 0.23 0.28 rs1128918 COSM3751127;COSM3751128 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3062 0.1477 0.1602 0.3032 0.1645 0.4048 0.3630 0.3035 0.3558 0.3022 0.1423 0.1782 0.2781 0.1588 0.4060 0.3916 0.3432 het 289.09 20 1 27679954 . G A 289.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.579;DP=20;Dels=0.00;FS=7.761;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.810;QD=14.45;ReadPosRankSum=-0.347;VQSLOD=4.0266;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,12:20:99:319,0,224 1 27680292 27680292 A G exonic SYTL1 synonymous SNV SYTL1:NM_001193308:exon15:c.A1638G:p.E546E,SYTL1:NM_032872:exon15:c.A1602G:p.E534E 0.55 0.69 0.48 0.24 0.72 0.53 0.6224 0.6938 0.3426 0.2405 0.6935 0.7219 0.6479 0.5412 0.72 0.69 0.73 0.49 0.67 rs8533 COSM3997468;COSM3997467 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6126 0.6950 0.3700 0.7050 0.2358 0.6839 0.7277 0.6330 0.5466 0.6804 0.6892 0.4581 0.6887 0.2398 0.6819 0.7372 0.6424 hom 2441.33 71 1 27680292 . A G 2441.33 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6963;MQ=59.47;MQ0=0;QD=34.38;VQSLOD=8.3021;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2474,199,0 1 27687466 27687466 G T exonic MAP3K6 nonsynonymous SNV MAP3K6:NM_001297609:exon13:c.C1842A:p.N614K,MAP3K6:NM_004672:exon14:c.C1866A:p.N622K 0.12 0.018 0.16 0.082 0.27 0.13 0.2622 0.0647 0.1470 0.1118 0.3023 0.3407 0.2847 0.1776 0.22 0.057 0.3 0.12 0.21 rs35659744 COSM1559293;COSM1559292 1(large_intestine);7(central_nervous_system) Benign not_specified RCV000455382.1 MedGen CN169374 . . . . . . 0.104 0.299 T 0.003 0.102 B 0.004 0.093 B . . . 1 0.090 P 2.255 0.644 M -0.16 0.654 T -2.55 0.551 D 0.029 0.031 -0.981 0.349 T 0.000 0.000 T . . . 1.018 0.192 10.76 0.966 0.298 0.032 0.080 N c -0.553 -0.610 1.000 0.454 0.651 0.465 0 -0.342 0.120 0.183 0.166 0.048 0.160 0.009 0.180 0.988 0.529 4.454 0.110 . ENSG00000142765.13 Brain_Cerebellum 0.2263 0.0485 0.1393 0.3675 0.0934 0.2480 0.3034 0.2413 0.1509 0.2093 0.0566 0.1659 0.3940 0.0919 0.2476 0.2991 0.2357 het 175.47 25 1 27687466 . G T 175.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.252;DP=25;Dels=0.00;FS=3.960;HRun=2;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=0.204;QD=7.02;ReadPosRankSum=0.786;VQSLOD=5.2759;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,8:25:99:205,0,489 1 27688633 27688633 G A exonic MAP3K6 nonsynonymous SNV MAP3K6:NM_001297609:exon8:c.C1340T:p.T447I,MAP3K6:NM_004672:exon9:c.C1364T:p.T455I 0.31 0.098 0.21 0.54 0.38 0.36 0.3293 0.1464 0.1594 0.5177 0.3976 0.3464 0.3367 0.3658 0.28 0.15 0.35 0.23 0.32 rs1138294 COSM4143756;COSM4143757 1(pancreas);1(thyroid) . . . . . . . . . . . 0.209 0.197 T 0.0 0.026 B 0.0 0.040 B . . . 1 0.090 P 0.49 0.133 N 2.96 0.096 T -1.66 0.397 N 0.11 0.258 -0.927 0.446 T 0.000 0.000 T . . . 1.271 0.217 12.12 0.982 0.391 0.040 0.094 N c -0.852 -0.821 1.000 0.428 0.563 0.310 0 -1.12 0.093 -1.271 0.029 -0.304 0.080 0.000 0.063 0.981 0.494 0.626 0.007 Domain of unknown function DUF4071 . . 0.3257 0.1339 0.1650 0.2246 0.5214 0.3907 0.3545 0.3200 0.3680 0.3080 0.1294 0.1998 0.1767 0.5364 0.3909 0.3747 0.3381 het 563.14 51 1 27688633 . G A 563.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.603;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7381;MQ=59.14;MQ0=0;MQRankSum=-0.388;QD=11.04;ReadPosRankSum=1.070;VQSLOD=6.0684;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,23:51:99:593,0,747 1 27875824 27875824 C T exonic AHDC1 nonsynonymous SNV AHDC1:NM_001029882:exon6:c.G2803A:p.A935T 1. 1. 1. 1. 0.99 1. 0.9956 0.9987 0.9977 1 0.9995 0.9938 0.9967 0.9956 0.99 1. 0.99 1. 0.95 rs4908364 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.390 0.133 N 1 0.090 P 0.55 0.145 N 0.97 0.425 T -0.04 0.076 N 0.036 0.016 -0.955 0.401 T 0.000 0.000 T . . . 2.136 0.318 17.09 0.899 0.186 0.006 0.026 N c -1.303 -1.238 1.000 0.480 0.696 0.567 0 -2.09 0.068 -0.683 0.052 0.090 0.195 0.000 0.063 0.999 0.750 7.470 0.264 . . . 0.9952 0.9989 0.9979 0.9760 1 0.9995 0.9939 0.9956 0.9951 0.9969 0.9987 0.9964 0.9702 1 0.9997 0.9955 0.9959 hom 3170.35 107 1 27875824 . C T 3170.35 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5989;MQ=59.57;MQ0=0;QD=29.63;VQSLOD=7.7819;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3203,259,0 1 28209305 28209305 A G exonic THEMIS2 synonymous SNV THEMIS2:NM_001105556:exon4:c.A1470G:p.L490L,THEMIS2:NM_001286115:exon4:c.A882G:p.L294L,THEMIS2:NM_001286113:exon5:c.A1083G:p.L361L 0.47 0.14 0.51 0.51 0.63 0.69 0.5906 0.2203 0.5304 0.5385 0.6072 0.6315 0.58 0.7083 0.52 0.25 0.65 0.41 0.62 rs3766398 COSM4143769 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5961 0.2103 0.5384 0.6962 0.5453 0.6037 0.6325 0.6026 0.7085 0.5033 0.2151 0.5419 0.7119 0.5519 0.6002 0.6304 0.6002 hom 6234.32 190 1 28209305 . A G 6234.32 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.9114;MQ=59.17;MQ0=0;QD=32.81;VQSLOD=8.2991;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,189:190:99:6234,479,0 1 28209362 28209362 T C exonic THEMIS2 synonymous SNV THEMIS2:NM_001105556:exon4:c.T1527C:p.V509V,THEMIS2:NM_001286115:exon4:c.T939C:p.V313V,THEMIS2:NM_001286113:exon5:c.T1140C:p.V380V 0.47 0.16 0.51 0.5 0.63 0.69 0.5908 0.2283 0.5339 0.5260 0.6071 0.6317 0.5767 0.7083 0.52 0.26 0.65 0.4 0.61 rs3766399 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5970 0.2193 0.5420 0.7106 0.5349 0.6036 0.6324 0.6027 0.7087 0.5041 0.2264 0.5397 0.7285 0.5351 0.6003 0.6278 0.5979 hom 5464.26 187 1 28209362 . T C 5464.26 Mask AC=2;AF=1.00;AN=2;DP=187;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8933;MQ=58.59;MQ0=0;QD=29.22;VQSLOD=8.4538;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,187:187:99:5463,466,0 1 28209366 28209366 A G exonic THEMIS2 nonsynonymous SNV THEMIS2:NM_001105556:exon4:c.A1531G:p.K511E,THEMIS2:NM_001286115:exon4:c.A943G:p.K315E,THEMIS2:NM_001286113:exon5:c.A1144G:p.K382E 0.45 0.071 0.5 0.5 0.63 0.69 0.5829 0.1511 0.5262 0.5262 0.6073 0.6304 0.57 0.7077 0.48 0.15 0.64 0.38 0.61 rs3766400 . . . . . . . . . . . . . 0.532 0.070 T 0.0 0.026 B 0.0 0.013 B 0.000 0.469 N 1.000 0.548 P -2.83 0.000 N 2.66 0.126 T 1.3 0.010 N 0.021 0.366 -0.933 0.438 T 0.000 0.000 T . . . -0.338 0.066 0.542 0.726 0.097 0.103 0.157 N c -0.583 -0.437 1.000 0.747 0.628 0.401 0 4.0 0.455 0.881 0.276 0.076 0.183 0.986 0.359 0.016 0.126 3.223 0.063 CABIT domain ENSG00000130775.11|ENSG00000130775.11|ENSG00000130775.11|ENSG00000117748.5|ENSG00000130775.11 Adipose_Subcutaneous|Esophagus_Mucosa|Lung|Whole_Blood|Whole_Blood 0.5901 0.1412 0.5345 0.6979 0.5348 0.6037 0.6318 0.5985 0.7079 0.4813 0.1478 0.5372 0.7119 0.5357 0.5997 0.6275 0.5921 hom 5769.99 179 1 28209366 . A G 5769.99 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.0534;MQ=58.79;MQ0=0;QD=32.23;VQSLOD=8.6835;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5769,454,0 1 28282292 28282292 T C exonic SMPDL3B nonsynonymous SNV SMPDL3B:NM_001009568:exon6:c.T788C:p.V263A,SMPDL3B:NM_001304579:exon6:c.T170C:p.V57A,SMPDL3B:NM_014474:exon6:c.T788C:p.V263A 0.19 0.07 0.26 0.21 0.27 0.18 0.2507 0.1015 0.2423 0.2648 0.3377 0.2800 0.2709 0.1889 0.23 0.11 0.3 0.13 0.24 rs3813803 COSM4143771;COSM4143770 1(thyroid) . . . . . . . . . . . 0.017 0.546 D 0.99 0.629 D 0.716 0.570 P 0.000 0.473 D 0.420 0.323 P 1.925 0.515 L -3.1 0.927 D -2.99 0.634 D 0.314 0.391 -1.516 0.000 T 0.000 0.000 T . . . 4.073 0.547 23.7 0.987 0.451 0.975 0.751 D c 0.464 0.405 1.000 0.747 0.635 0.413 0 5.34 0.759 7.585 0.817 1.061 0.807 1.000 0.715 0.117 0.195 15.291 0.735 Calcineurin-like phosphoesterase domain\x2c apaH type|Metallo-dependent phosphatase-like;Metallo-dependent phosphatase-like . . 0.2553 0.0964 0.2362 0.2369 0.2567 0.3390 0.2857 0.2619 0.1885 0.2409 0.0926 0.2302 0.2384 0.2770 0.3340 0.2999 0.2777 hom 3514.32 106 1 28282292 . T C 3514.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.699;DP=106;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.5226;MQ=59.61;MQ0=0;MQRankSum=1.666;QD=33.15;ReadPosRankSum=0.233;VQSLOD=9.5333;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,105:106:99:3514,277,0 1 28800380 28800380 C A exonic PHACTR4 nonsynonymous SNV PHACTR4:NM_023923:exon6:c.C1168A:p.L390I,PHACTR4:NM_001048183:exon7:c.C1138A:p.L380I,PHACTR4:NM_001350158:exon8:c.C1162A:p.L388I,PHACTR4:NM_001350160:exon8:c.C1138A:p.L380I,PHACTR4:NM_001350161:exon8:c.C1090A:p.L364I,PHACTR4:NM_001350159:exon9:c.C1162A:p.L388I 0.23 0.3 0.27 0.07 0.31 0.16 0.2633 0.3140 0.2158 0.0796 0.3243 0.2946 0.2862 0.2104 0.28 0.31 0.27 0.25 0.32 rs61785974 COSM3751132 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.005 0.632 D 0.328 0.314 B 0.085 0.279 B 0.795 0.067 N 0.954 0.264 P 2.47 0.719 M 1.84 0.248 T -0.71 0.202 N 0.037 0.017 -0.948 0.414 T 0.000 0.000 T . . . 0.539 0.146 7.720 0.922 0.210 0.545 0.294 D c -0.551 -0.561 0.001 0.083 0.707 0.730 0 3.3 0.368 1.500 0.351 0.837 0.341 0.280 0.249 0.265 0.231 5.478 0.159 . ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000204138.8|ENSG00000130770.13|ENSG00000204138.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellar_Hemisphere|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Thyroid|Whole_Blood|Whole_Blood 0.2607 0.3059 0.2216 0.2757 0.0811 0.3200 0.2923 0.2863 0.2149 0.2896 0.3102 0.2524 0.2815 0.0774 0.3090 0.2965 0.3180 het 1852.13 123 1 28800380 . C A 1852.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.592;DP=123;Dels=0.00;FS=11.275;HRun=0;HaplotypeScore=2.0756;MQ=59.47;MQ0=0;MQRankSum=-0.226;QD=15.06;ReadPosRankSum=-0.885;VQSLOD=4.1570;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,66:123:99:1882,0,1606 1 28861636 28861636 G A exonic RCC1 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 0.22 0.31 0.25 0.072 0.31 0.16 0.2637 0.2989 0.2183 0.0820 0.3045 0.2968 0.2748 0.2178 0.28 0.3 0.27 0.26 0.36 rs2066726 COSM3751133;COSM3751134 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2610 0.2975 0.2241 0.2845 0.0830 0.3003 0.2946 0.2853 0.2229 0.2837 0.2950 0.2524 0.2914 0.0767 0.2927 0.2973 0.3106 het 1919.67 160 1 28861636 . G A 1919.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.647;DP=160;Dels=0.00;FS=2.132;HRun=0;HaplotypeScore=8.5006;MQ=58.26;MQ0=0;MQRankSum=-0.399;QD=12.00;ReadPosRankSum=0.596;VQSLOD=4.4117;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,83:160:99:1950,0,2012 1 28944528 28944528 C T exonic TAF12 synonymous SNV TAF12:NM_001135218:exon3:c.G183A:p.K61K,TAF12:NM_005644:exon3:c.G183A:p.K61K 0.0006 0.0008 . . 0.002 . 0.0014 0.0006 8.64e-05 0 0.0002 0.0023 0.0011 0 0.0016 0.0009 0.002 . . rs147570760 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0013 0.0003 0.0005 0 0 4.486e-05 0.0027 0.0009 9.787e-05 0.0017 0.0006 0 0 0 0 0.0031 0.0010 het 1992.59 154 1 28944528 . C T 1992.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.585;DP=154;DS;Dels=0.00;FS=1.374;HRun=3;HaplotypeScore=4.9375;MQ=59.45;MQ0=0;MQRankSum=-1.155;QD=12.94;ReadPosRankSum=-0.735;VQSLOD=3.3824;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,76:154:99:2023,0,1871 1 29189597 29189597 C T exonic OPRD1 synonymous SNV OPRD1:NM_000911:exon3:c.C921T:p.G307G 0.58 0.31 0.7 0.75 0.57 0.7 0.5918 0.3612 0.7378 0.7615 0.5932 0.5498 0.5647 0.7005 0.47 0.34 0.54 0.52 0.36 rs2234918 COSM1560682 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5895 0.3315 0.7176 0.4657 0.7676 0.5734 0.5432 0.5719 0.6926 0.5150 0.3330 0.6986 0.4570 0.7728 0.5791 0.5631 0.6031 hom 1188.33 38 1 29189597 . C T 1188.33 Mask AC=2;AF=1.00;AN=2;DP=38;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.34;MQ0=0;QD=31.27;VQSLOD=8.8905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,38:38:99:1221,102,0 1 29475648 29475648 T G exonic SRSF4 nonsynonymous SNV SRSF4:NM_005626:exon6:c.A759C:p.E253D 0.72 0.72 0.74 0.56 0.88 0.69 0.8179 0.7488 0.7386 0.5665 0.9015 0.8862 0.8238 0.7388 0.85 0.77 0.89 0.75 0.89 rs2230679 COSM3997475 4(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.005 0.331 N 1 0.090 P -1.645 0.004 N 2.58 0.134 T 0.03 0.066 N 0.023 0.006 -0.959 0.394 T 0.000 0.000 T . . . -0.776 0.041 0.048 0.717 0.094 0.059 0.117 N c -1.472 -1.383 0.999 0.392 0.707 0.730 0 -3.25 0.047 -1.476 0.024 -0.905 0.026 0.011 0.184 0.901 0.381 1.100 0.016 . . . 0.8198 0.7424 0.7489 0.8917 0.5710 0.9025 0.8890 0.8364 0.7385 0.8324 0.7425 0.7715 0.8874 0.5800 0.9078 0.8954 0.8487 hom 6045.04 183 1 29475648 . T G 6045.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.141;DP=183;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.4721;MQ=59.52;MQ0=0;MQRankSum=2.961;QD=33.03;ReadPosRankSum=2.656;VQSLOD=3.0252;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:3,179:183:99:5977,427,0 1 29529699 29529699 T C exonic MECR synonymous SNV MECR:NM_001024732:exon5:c.A369G:p.A123A,MECR:NM_001349717:exon5:c.A447G:p.A149A,MECR:NM_016011:exon5:c.A597G:p.A199A,MECR:NM_001349714:exon6:c.A369G:p.A123A,MECR:NM_001349715:exon6:c.A702G:p.A234A,MECR:NM_001349716:exon6:c.A681G:p.A227A,MECR:NM_001349712:exon7:c.A369G:p.A123A,MECR:NM_001349713:exon7:c.A369G:p.A123A,MECR:NM_001349711:exon8:c.A369G:p.A123A 0.75 0.82 0.75 0.56 0.88 0.69 0.8089 0.8296 0.7316 0.5825 0.8866 0.8749 0.7946 0.7360 0.88 0.85 0.89 0.76 0.74 rs1062924 COSM3930740;COSM1748339 2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8137 0.8278 0.7440 0.8889 0.5573 0.8966 0.8834 0.8279 0.7290 0.8575 0.8339 0.7804 0.8833 0.5778 0.9061 0.8942 0.8523 hom 507.97 20 1 29529699 . T C 507.97 Mask AC=2;AF=1.00;AN=2;DP=20;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=54.92;MQ0=0;QD=25.40;VQSLOD=7.0045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,20:20:45.11:541,45,0 1 29542637 29542637 A G exonic MECR nonsynonymous SNV MECR:NM_001024732:exon3:c.T58C:p.F20L,MECR:NM_001349717:exon3:c.T136C:p.F46L,MECR:NM_016011:exon3:c.T286C:p.F96L,MECR:NM_001349714:exon4:c.T58C:p.F20L,MECR:NM_001349715:exon4:c.T391C:p.F131L,MECR:NM_001349716:exon4:c.T370C:p.F124L,MECR:NM_001349712:exon5:c.T58C:p.F20L,MECR:NM_001349713:exon5:c.T58C:p.F20L,MECR:NM_001349711:exon6:c.T58C:p.F20L 0.72 0.72 0.73 0.56 0.88 0.69 0.8168 0.7466 0.7374 0.5670 0.8992 0.8849 0.8205 0.7388 0.85 0.77 0.89 0.74 0.9 rs1128400 COSM3997476 4(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.679 0.044 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.182 P 0.055 0.082 N 1.01 0.411 T 1.33 0.009 N 0.016 0.003 -1.017 0.247 T 0.000 0.000 T . . . 1.453 0.237 13.07 0.678 0.082 0.218 0.213 N c -0.937 -0.758 0.238 0.185 0.732 0.924 0 1.39 0.212 0.049 0.139 0.128 0.215 0.472 0.265 0.963 0.446 4.877 0.129 Alcohol dehydrogenase\x2c N-terminal|GroES-like;Alcohol dehydrogenase\x2c N-terminal|GroES-like|Polyketide synthase\x2c enoylreductase domain . . 0.8190 0.7423 0.7464 0.8898 0.5719 0.9007 0.8884 0.8353 0.7386 0.8315 0.7425 0.7739 0.8841 0.5800 0.9061 0.8938 0.8493 hom 5969.34 184 1 29542637 . A G 5969.34 Mask AC=2;AF=1.00;AN=2;DP=184;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6254;MQ=59.90;MQ0=0;QD=32.44;VQSLOD=9.3347;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,183:184:99:5969,469,0 1 29630455 29630455 C T exonic PTPRU 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 0.38 0.35 0.33 0.64 0.16 0.38 0.2631 0.3246 0.4277 0.6492 0.1888 0.1550 0.2649 0.3710 0.2 0.32 0.14 0.32 0.2 rs2295061 COSM1748344;COSM1748343;COSM1748345 1(haematopoietic_and_lymphoid_tissue);2(urinary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2670 0.3217 0.4013 0.2099 0.6480 0.1971 0.1512 0.2420 0.3725 0.2321 0.3142 0.3544 0.2219 0.6360 0.1936 0.1446 0.2092 het 971.04 96 1 29630455 . C T 971.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.945;DP=96;Dels=0.00;FS=0.829;HRun=0;HaplotypeScore=1.7333;MQ=59.57;MQ0=0;MQRankSum=0.072;QD=10.11;ReadPosRankSum=0.148;VQSLOD=6.4467;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,39:96:99:1001,0,1507 1 29631909 29631909 A G exonic PTPRU 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 0.34 0.22 0.38 0.49 0.24 0.41 0.2945 0.2314 0.4288 0.4782 0.2530 0.2394 0.3018 0.3834 0.23 0.23 0.23 0.27 0.34 rs2235937 COSM3997477;COSM146456;COSM3997478 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.798 0.031 T 0.0 0.026 B 0.0 0.040 B 0.001 0.436 D 0.904 0.276 P -0.47 0.027 N 1.62 0.282 T -0.54 0.166 N 0.012 0.069 -0.902 0.478 T 0.000 0.000 T . . . 0.761 0.166 9.220 0.527 0.047 0.786 0.385 D c -0.577 -0.446 0.804 0.242 0.706 0.609 0 1.77 0.237 1.679 0.370 0.237 0.263 0.133 0.232 0.846 0.353 6.934 0.235 PTP type protein phosphatase|Protein-tyrosine phosphatase-like . . 0.3006 0.2268 0.4126 0.3320 0.4766 0.2542 0.2322 0.3041 0.3870 0.2565 0.2239 0.3711 0.3609 0.4709 0.2524 0.2436 0.2751 het 2093.92 192 1 29631909 . A G 2093.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.188;DP=192;Dels=0.00;FS=5.183;HRun=0;HaplotypeScore=3.8083;MQ=59.57;MQ0=0;MQRankSum=0.922;QD=10.91;ReadPosRankSum=-1.395;VQSLOD=4.8807;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,82:192:99:2124,0,2845 1 29644328 29644328 C T exonic PTPRU 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 0.073 0.088 0.053 0.004 0.12 0.093 0.0923 0.0918 0.0473 0.0010 0.1230 0.1029 0.0998 0.1162 0.093 0.09 0.095 0.065 0.098 rs1045453 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0924 0.0900 0.0508 0.1593 0.0010 0.1205 0.1011 0.0958 0.1167 0.0935 0.0849 0.0477 0.1523 0 0.1222 0.1022 0.1110 het 1713.53 116 1 29644328 . C T 1713.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.463;DP=116;Dels=0.00;FS=3.595;HRun=0;HaplotypeScore=4.7553;MQ=60.00;MQ0=0;MQRankSum=0.965;QD=14.77;ReadPosRankSum=-0.025;VQSLOD=4.9426;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,64:116:99:1744,0,1264 1 31188089 31188089 C T exonic MATN1 synonymous SNV MATN1:NM_002379:exon6:c.G1275A:p.E425E 0.29 0.26 0.41 0.18 0.36 0.27 0.3253 0.2791 0.4120 0.1700 0.4094 0.3391 0.3135 0.2860 0.32 0.29 0.34 0.3 0.3 rs1065755 COSM4143785 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3322 0.2798 0.4093 0.2764 0.1664 0.4209 0.3424 0.3265 0.2845 0.3310 0.2837 0.3998 0.2649 0.1374 0.4124 0.3562 0.3574 hom 4983.44 160 1 31188089 . C T 4983.44 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6671;MQ=59.51;MQ0=0;QD=31.15;VQSLOD=9.3306;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:4983,400,0 1 31188901 31188901 A G exonic MATN1 synonymous SNV MATN1:NM_002379:exon5:c.T1062C:p.T354T 0.6 0.84 0.68 0.61 0.47 0.37 0.5111 0.7819 0.7223 0.5979 0.5407 0.4531 0.4714 0.3720 0.56 0.77 0.45 0.65 0.41 rs20566 COSM3997479 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5151 0.7867 0.6986 0.3652 0.5958 0.5463 0.4582 0.4925 0.3708 0.5789 0.7871 0.6842 0.3841 0.5466 0.5492 0.4706 0.5133 hom 5707.34 192 1 31188901 . A G 5707.34 Mask AC=2;AF=1.00;AN=2;DP=192;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4972;MQ=59.66;MQ0=0;QD=29.73;VQSLOD=8.4645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,192:192:99:5706,457,0 1 31215364 31215364 T C exonic LAPTM5 synonymous SNV LAPTM5:NM_006762:exon2:c.A120G:p.S40S 0.6 0.62 0.69 0.67 0.53 0.54 0.5520 0.6052 0.7461 0.6951 0.5821 0.4887 0.5466 0.5521 0.52 0.59 0.49 0.63 0.39 rs1050663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5559 0.6031 0.7299 0.4791 0.6941 0.5818 0.4824 0.5440 0.5401 0.5482 0.5980 0.7033 0.4702 0.6698 0.5676 0.4933 0.5644 het 545.76 38 1 31215364 . T C 545.76 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.138;DP=38;Dels=0.00;FS=7.256;HRun=1;HaplotypeScore=0.0000;MQ=57.38;MQ0=0;MQRankSum=0.990;QD=14.36;ReadPosRankSum=0.103;VQSLOD=4.4133;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:576,0,414 1 31346199 31346199 G A exonic SDC3 synonymous SNV SDC3:NM_014654:exon5:c.C1188T:p.G396G 0.059 0.0045 0.052 0.075 0.11 0.067 0.0905 0.0185 0.0425 0.0782 0.1216 0.1155 0.0741 0.0634 0.084 0.025 0.11 0.076 0.098 rs1539360 COSM5619179;COSM5619178 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0893 0.0170 0.0428 0.0872 0.0788 0.1231 0.1157 0.0920 0.0618 0.0858 0.0207 0.0525 0.0927 0.0921 0.1175 0.1162 0.1043 het 1214.98 100 1 31346199 . G A 1214.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.128;DP=100;Dels=0.00;FS=4.295;HRun=0;HaplotypeScore=4.9589;MQ=59.77;MQ0=0;MQRankSum=-1.679;QD=12.15;ReadPosRankSum=-1.232;VQSLOD=3.6213;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:49,48:100:99:1245,0,1260 1 31349642 31349642 C T exonic SDC3 synonymous SNV SDC3:NM_014654:exon3:c.G627A:p.R209R 0.015 0.0015 0.033 . 0.043 0.0072 0.0289 0.0071 0.0191 0 0.0269 0.0424 0.02 0.0075 0.029 0.0079 0.04 0.043 0.025 rs41269521 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0273 0.0064 0.0198 0.0644 5.903e-05 0.0225 0.0404 0.0354 0.0060 0.0256 0.0068 0.0239 0.0662 0 0.0238 0.0392 0.0255 het 571.10 38 1 31349642 . C T 571.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.262;DP=38;Dels=0.00;FS=14.520;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.547;QD=15.03;ReadPosRankSum=-1.552;VQSLOD=2.8893;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:601,0,438 1 31349647 31349647 C T exonic SDC3 nonsynonymous SNV SDC3:NM_014654:exon3:c.G622A:p.V208I 0.076 0.0091 0.1 0.035 0.21 0.054 0.1599 0.0365 0.0764 0.0525 0.1982 0.2178 0.1305 0.0955 0.15 0.042 0.21 0.11 0.074 rs2491132 . . other Obesity\x2c_association_with RCV000013593.17 MedGen C4016383 . . . . . . 0.681 0.044 T 0.002 0.090 B 0.001 0.040 B 0.716 0.100 N 1 0.090 P -0.46 0.027 N 1.99 0.219 T -0.08 0.082 N 0.019 0.005 -0.956 0.399 T 0.000 0.000 T . . . -1.423 0.019 0.003 0.775 0.115 0.022 0.063 N c -1.604 -1.677 1.000 0.747 0.744 0.983 0 -8.71 0.007 -1.922 0.016 -0.265 0.087 0.000 0.063 0.517 0.274 6.035 0.188 . . . 0.1504 0.0320 0.0826 0.1375 0.0497 0.1923 0.2156 0.1656 0.0788 0.1614 0.0383 0.0945 0.1490 0.0573 0.1890 0.2407 0.1848 het 527.90 38 1 31349647 . C T 527.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.090;DP=38;Dels=0.00;FS=14.520;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.345;QD=13.89;ReadPosRankSum=-0.931;VQSLOD=3.5113;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:16,22:38:99:558,0,372 1 31351513 31351513 G A exonic SDC3 synonymous SNV SDC3:NM_014654:exon2:c.C213T:p.P71P 0.18 0.029 0.28 0.11 0.3 0.25 0.2595 0.0697 0.3001 0.1210 0.3756 0.2918 0.2489 0.2468 0.21 0.076 0.28 0.15 0.19 rs1891419 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2656 0.0656 0.3024 0.1941 0.1230 0.3837 0.2923 0.2600 0.2463 0.2367 0.0677 0.3074 0.1954 0.1381 0.3865 0.3029 0.3125 het 1889.81 158 1 31351513 . G A 1889.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.731;DP=158;Dels=0.00;FS=2.020;HRun=0;HaplotypeScore=7.7870;MQ=59.14;MQ0=0;MQRankSum=2.775;QD=11.96;ReadPosRankSum=0.740;VQSLOD=3.8305;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,74:158:99:1920,0,2100 1 31898234 31898234 T C exonic SERINC2 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 0.35 0.15 0.45 0.36 0.56 0.33 0.4862 0.2094 0.4537 0.3402 0.5222 0.5803 0.5033 0.3646 0.45 0.23 0.57 0.35 0.5 rs4949402 COSM3997481 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4918 0.2059 0.4660 0.5663 0.3486 0.5347 0.5790 0.5175 0.3662 0.4558 0.2052 0.4714 0.5563 0.3618 0.5355 0.5855 0.5276 hom 4556.59 140 1 31898234 . T C 4556.59 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.1557;MQ=59.19;MQ0=0;QD=32.55;VQSLOD=9.9667;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,139:140:99:4556,355,0 1 31898687 31898687 C T exonic SERINC2 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 0.061 . 0.16 0.086 0.034 0.072 0.0607 0.0078 0.2034 0.0916 0.0540 0.0366 0.0608 0.0777 0.028 0.01 0.037 0.033 0.0082 rs2275434 COSM3751137;COSM5827849 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0670 0.0079 0.1964 0.0382 0.0936 0.0558 0.0349 0.0587 0.0758 0.0399 0.0080 0.1818 0.0233 0.1025 0.0590 0.0387 0.0531 het 3832.99 197 1 31898687 . C T 3832.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.336;DP=197;DS;Dels=0.00;FS=0.900;HRun=1;HaplotypeScore=6.8194;MQ=59.55;MQ0=0;MQRankSum=0.688;QD=19.46;ReadPosRankSum=-1.528;VQSLOD=2.8977;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:89,108:197:99:3275,0,2130 1 32084904 32084904 C T exonic HCRTR1 synonymous SNV HCRTR1:NM_001525:exon3:c.C111T:p.R37R 0.35 0.079 0.47 0.24 0.56 0.55 0.4903 0.1434 0.4871 0.2471 0.5634 0.5534 0.5231 0.5526 0.42 0.16 0.55 0.34 0.43 rs1056526 COSM3746932;COSM3746931 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4960 0.1364 0.4846 0.5627 0.2524 0.5626 0.5508 0.5082 0.5531 0.4147 0.1344 0.5095 0.5828 0.2438 0.5622 0.5445 0.5501 hom 7609.26 248 1 32084904 . C T 7609.26 Mask AC=2;AF=1.00;AN=2;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5191;MQ=59.66;MQ0=0;QD=30.68;VQSLOD=8.8001;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,248:248:99:7608,623,0 1 32092525 32092525 A G exonic HCRTR1 nonsynonymous SNV HCRTR1:NM_001525:exon9:c.A1222G:p.I408V 0.44 0.28 0.51 0.24 0.63 0.62 0.5567 0.3071 0.5162 0.2475 0.6287 0.6177 0.6093 0.6253 0.51 0.31 0.61 0.49 0.51 rs2271933 COSM1341730 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.001 0.418 N 1 0.588 P -1.43 0.006 N 0.31 0.586 T 0.09 0.059 N 0.111 0.120 -0.925 0.449 T 0.000 0.000 T . . . -0.075 0.087 1.920 0.719 0.095 0.037 0.089 N c -0.896 -0.657 1.000 0.517 0.498 0.195 0 3.78 0.425 1.840 0.386 -0.243 0.092 0.982 0.353 0.984 0.507 8.216 0.305 . ENSG00000162517.8|ENSG00000162517.8 Artery_Aorta|Artery_Tibial 0.5579 0.2951 0.5172 0.6081 0.2514 0.6246 0.6164 0.5745 0.6257 0.4986 0.2914 0.5420 0.6291 0.2383 0.6138 0.6078 0.6137 hom 7137.03 239 1 32092525 . A G 7137.03 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.482;DP=239;DS;Dels=0.00;FS=2.963;HRun=0;HaplotypeScore=6.3487;MQ=59.24;MQ0=0;MQRankSum=1.880;QD=29.86;ReadPosRankSum=0.906;VQSLOD=3.8911;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:2,237:239:99:7064,521,0 1 32096265 32096265 A G exonic PEF1 synonymous SNV PEF1:NM_012392:exon5:c.T804C:p.I268I 0.36 0.079 0.47 0.25 0.57 0.54 0.4955 0.1451 0.4911 0.2567 0.5675 0.5596 0.5310 0.5549 0.43 0.17 0.56 0.34 0.5 rs1061770 COSM3746933 1(breast);1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5011 0.1376 0.4889 0.5744 0.2628 0.5646 0.5571 0.5137 0.5545 0.4199 0.1351 0.5167 0.5960 0.2519 0.5633 0.5527 0.5530 hom 2628.77 84 1 32096265 . A G 2628.77 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.41;MQ0=0;QD=31.29;VQSLOD=8.5047;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2662,205,0 1 32148571 32148571 A G exonic COL16A1 synonymous SNV COL16A1:NM_001856:exon37:c.T2502C:p.P834P 1. 1. 1. 1. 1. 1. 0.9998 0.9971 0.9999 1 1 1 1 1 1. 1. 1. 1. 0.98 rs10737358 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9972 0.9999 1 1 1 1.0000 0.9996 1 0.9992 0.9972 1 1 1 1 1 1 hom 2087.55 66 1 32148571 . A G 2087.55 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.627;DP=66;Dels=0.00;FS=5.891;HRun=2;HaplotypeScore=3.9871;MQ=59.30;MQ0=0;MQRankSum=1.627;QD=31.63;ReadPosRankSum=1.102;VQSLOD=3.5154;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,65:66:99:2121,142,0 1 32158076 32158076 T C exonic COL16A1 nonsynonymous SNV COL16A1:NM_001856:exon16:c.A1193G:p.K398R 0.0028 . 0.0086 . 0.007 0.001 0.0051 0.0017 0.0034 0 0.0003 0.0081 0.0081 0.0007 0.0066 0.002 0.0087 0.033 0.0082 rs115606583 . . . . . . . . . . . . . 0.128 0.269 T 1.0 0.899 D 1.0 0.971 D 0.000 0.486 D 1 0.810 D 1.115 0.288 L -3.76 0.956 D -0.56 0.389 N 0.212 0.275 0.360 0.885 D 0.740 0.911 D 0.241 0.888 D 1.560 0.249 13.63 0.993 0.577 0.546 0.294 D c 0.148 0.157 1.000 0.451 0.615 0.352 0 4.53 0.548 1.171 0.313 1.061 0.807 1.000 0.715 0.995 0.604 8.593 0.327 . . . 0.0053 0.0012 0.0038 0.0287 0 0.0003 0.0073 0.0062 0.0009 0.0033 0.0010 0.0048 0.0298 0 0.0006 0.0051 0.0020 het 820.80 60 1 32158076 . T C 820.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.022;DP=60;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.9665;MQ=58.84;MQ0=0;MQRankSum=0.244;QD=13.68;ReadPosRankSum=0.215;VQSLOD=5.9749;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,32:60:99:851,0,753 1 32158374 32158374 T C exonic COL16A1 synonymous SNV COL16A1:NM_001856:exon14:c.A1107G:p.P369P 0.63 0.77 0.68 0.36 0.65 0.67 0.6330 0.7338 0.6053 0.3207 0.6485 0.6489 0.65 0.6839 0.67 0.73 0.64 0.64 0.59 rs3818788 COSM3746934;COSM3746935 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6256 0.7382 0.6056 0.5675 0.3250 0.6495 0.6462 0.6434 0.6836 0.6585 0.7232 0.6337 0.5828 0.3185 0.6575 0.6588 0.6918 hom 1964.32 70 1 32158374 . T C 1964.32 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7882;MQ=59.67;MQ0=0;QD=28.06;VQSLOD=7.6522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:1997,159,0 1 32164206 32164206 T G exonic COL16A1 synonymous SNV COL16A1:NM_001856:exon5:c.A268C:p.R90R 0.63 0.82 0.66 0.35 0.65 0.6 0.6289 0.7889 0.5856 0.3230 0.6439 0.6548 0.6371 0.6128 0.7 0.79 0.65 0.61 0.59 rs2228550 COSM3746937;COSM3746936 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6200 0.7904 0.5878 0.5754 0.3240 0.6459 0.6525 0.6394 0.6104 0.6771 0.7758 0.6319 0.5795 0.3176 0.6556 0.6668 0.6944 hom 1546.60 50 1 32164206 . T G 1546.60 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.63;MQ0=0;QD=30.93;VQSLOD=8.1202;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1580,126,0 1 32165495 32165495 G T exonic COL16A1 nonsynonymous SNV COL16A1:NM_001856:exon4:c.C185A:p.T62K 0.43 0.26 0.46 0.27 0.65 0.57 0.5629 0.3047 0.4545 0.2643 0.6400 0.6430 0.5933 0.5917 0.54 0.35 0.63 0.42 0.57 rs2228552 . . . . . . . . . . . . . 0.032 0.446 D 0.969 0.548 D 0.473 0.450 P 0.689 0.102 N 1 0.090 P 2.42 0.702 M 1.85 0.245 T -0.68 0.195 N 0.094 0.118 -0.969 0.375 T 0.000 0.000 T . . . 0.204 0.113 4.717 0.896 0.184 0.063 0.121 N c -1.314 -1.390 1.000 0.747 0.615 0.372 0 -2.4 0.062 -0.481 0.066 -1.931 0.005 0.000 0.063 0.723 0.315 8.052 0.296 Laminin G domain ENSG00000084636.13 Thyroid 0.5591 0.3013 0.4602 0.5662 0.2673 0.6412 0.6413 0.5905 0.5933 0.5276 0.2885 0.5167 0.5662 0.2716 0.6521 0.6570 0.6571 hom 3377.56 106 1 32165495 . G T 3377.56 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.6988;MQ=58.15;MQ0=0;QD=31.86;VQSLOD=8.2309;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3377,259,0 1 32193647 32193647 T C exonic ADGRB2 synonymous SNV ADGRB2:NM_001294336:exon31:c.A4449G:p.A1483A,ADGRB2:NM_001294335:exon32:c.A4548G:p.A1516A 0.6 0.83 0.52 0.35 0.65 0.57 0.6758 0.8094 0.6000 0.4432 0.6922 0.6978 0.6389 0.6393 0.7 0.8 0.65 0.63 0.17 rs1127100 COSM3751138 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5980 0.7966 0.4903 0.5684 0.3207 0.6404 0.6456 0.6151 0.6095 0.6775 0.7876 0.5513 0.5762 0.3232 0.6552 0.6657 0.6872 hom 455.42 16 1 32193647 . T C 455.42 Mask AC=2;AF=1.00;AN=2;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.83;MQ0=0;QD=28.46;VQSLOD=7.8517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,16:16:39.12:488,39,0 1 32196647 32196647 C G exonic ADGRB2 synonymous SNV ADGRB2:NM_001294336:exon28:c.G4035C:p.P1345P,ADGRB2:NM_001294335:exon29:c.G4134C:p.P1378P 0.39 0.76 0.26 0.23 0.16 0.36 0.3280 0.6924 0.3511 0.2891 0.3134 0.2284 0.3120 0.4573 0.3 0.58 0.16 0.41 0.049 rs909001 COSM3751139 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2590 0.6781 0.2713 0.1582 0.2279 0.2357 0.1778 0.2251 0.3913 0.3315 0.6694 0.2799 0.1367 0.2309 0.2334 0.1800 0.2724 het 218.93 17 1 32196647 . C G 218.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.358;DP=17;Dels=0.00;FS=6.726;HRun=2;HaplotypeScore=1.7719;MQ=60.00;MQ0=0;MQRankSum=-1.876;QD=12.88;ReadPosRankSum=1.010;VQSLOD=3.3409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,9:17:99:249,0,205 1 32207720 32207720 G A exonic ADGRB2 nonsynonymous SNV ADGRB2:NM_001294335:exon8:c.C1351T:p.P451S,ADGRB2:NM_001294336:exon8:c.C1351T:p.P451S . . . . . . 0.0002 0.0003 0 0 0 0.0002 0 0 0.0005 0.0005 0.0005 . . rs139751061 . . . . . . . . . . . . . 0.513 0.398 T 0.058 0.320 B 0.18 0.372 B 0.002 0.384 N 0.980 0.396 D 1.93 0.516 L 0.77 0.496 T -1.03 0.344 N 0.308 0.405 -0.901 0.480 T 0.146 0.471 T 0.015 0.351 T 3.185 0.442 22.7 0.991 0.519 0.915 0.534 D c -0.005 0.098 1.000 0.747 0.718 0.821 0 4.1 0.470 2.263 0.427 1.048 0.713 0.996 0.391 0.959 0.439 15.639 0.766 . . . 0.0002 0.0003 0 0 0 0 0.0005 0 0 0.0003 0.0002 0 0 0 0.0003 0.0003 0 het 654.17 56 1 32207720 . G A 654.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.686;DP=56;Dels=0.00;FS=1.451;HRun=0;HaplotypeScore=2.9141;MQ=57.83;MQ0=0;MQRankSum=1.363;QD=11.68;ReadPosRankSum=1.304;VQSLOD=3.3082;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:28,28:56:99:684,0,651 1 32221913 32221913 G A exonic ADGRB2 synonymous SNV ADGRB2:NM_001294335:exon4:c.C525T:p.P175P,ADGRB2:NM_001294336:exon4:c.C525T:p.P175P 0.14 0.033 0.17 0.11 0.11 0.3 0.1632 0.0461 0.2224 0.1232 0.1792 0.1319 0.1551 0.3236 0.1 0.046 0.13 0.054 0.11 rs4949223 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1650 0.0393 0.2102 0.1279 0.1287 0.1772 0.1299 0.1481 0.3235 0.1176 0.0416 0.2136 0.1060 0.1278 0.1822 0.1368 0.1741 het 1331.85 86 1 32221913 . G A 1331.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.937;DP=86;Dels=0.00;FS=3.310;HRun=0;HaplotypeScore=1.4538;MQ=59.30;MQ0=0;MQRankSum=0.416;QD=15.49;ReadPosRankSum=1.711;VQSLOD=5.7753;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,50:86:99:1362,0,834 1 32279629 32279629 G A exonic SPOCD1 nonsynonymous SNV SPOCD1:NM_001281987:exon2:c.C1306T:p.R436W,SPOCD1:NM_144569:exon2:c.C1306T:p.R436W 0.35 0.19 0.5 0.42 0.44 0.28 0.4068 0.2171 0.4969 0.4407 0.4703 0.4475 0.3795 0.2534 0.37 0.22 0.44 0.38 0.43 rs6669563 COSM146457 1(stomach);1(urinary_tract);1(meninges) . . . . . . . . . . . 0.103 0.303 T 0.825 0.439 P 0.237 0.368 B . . . 1 0.090 P 0.345 0.112 N 1.84 0.247 T -0.46 0.150 N 0.029 0.138 -0.929 0.443 T 0.000 0.000 T . . . 2.740 0.390 21.0 0.968 0.306 0.028 0.074 N c -0.813 -0.933 0.756 0.234 0.476 0.093 0 0.152 0.141 0.055 0.140 0.040 0.155 0.000 0.063 0.001 0.043 3.809 0.082 . . . 0.4141 0.2097 0.4958 0.4902 0.4359 0.4667 0.4424 0.4252 0.2474 0.3786 0.2103 0.4773 0.4437 0.4531 0.4722 0.4369 0.4264 het 1587.34 110 1 32279629 . G A 1587.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.019;DP=110;Dels=0.00;FS=13.993;HRun=0;HaplotypeScore=2.8857;MQ=59.34;MQ0=0;MQRankSum=-0.302;QD=14.43;ReadPosRankSum=1.294;VQSLOD=3.6773;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,54:110:99:1617,0,1456 1 32280610 32280610 T C exonic SPOCD1 nonsynonymous SNV SPOCD1:NM_001281987:exon2:c.A325G:p.T109A,SPOCD1:NM_144569:exon2:c.A325G:p.T109A 0.69 0.64 0.67 0.72 0.67 0.75 0.6822 0.6373 0.6319 0.7016 0.6655 0.6900 0.6574 0.7118 0.67 0.64 0.69 0.67 0.64 rs6664445 COSM4143799 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.695 0.019 N 2.2 0.187 T 1.15 0.012 N 0.018 0.003 -0.938 0.429 T 0.000 0.000 T . . . -1.922 0.009 0.001 0.147 0.003 0.000 0.002 N c -1.345 -1.321 0.993 0.331 0.476 0.093 0 2.32 0.278 0.370 0.200 -0.019 0.130 0.008 0.178 0.003 0.074 4.638 0.118 . ENSG00000134668.8|ENSG00000134668.8 Esophagus_Mucosa|Thyroid 0.6796 0.6329 0.6381 0.7100 0.6989 0.6699 0.6870 0.6755 0.7081 0.6657 0.6380 0.6313 0.6788 0.7198 0.6696 0.6769 0.6619 het 1811.28 115 1 32280610 . T C 1811.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.650;DP=115;Dels=0.00;FS=8.052;HRun=0;HaplotypeScore=2.7520;MQ=59.40;MQ0=0;MQRankSum=1.525;QD=15.75;ReadPosRankSum=-0.607;VQSLOD=4.4521;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:56,59:115:99:1841,0,1417 1 32557486 32557486 A G exonic TMEM39B synonymous SNV TMEM39B:NM_001319678:exon4:c.A204G:p.S68S,TMEM39B:NM_001319679:exon4:c.A204G:p.S68S,TMEM39B:NM_001319677:exon6:c.A420G:p.S140S,TMEM39B:NM_018056:exon6:c.A801G:p.S267S 0.22 0.29 0.23 0.24 0.06 0.28 0.1241 0.2699 0.1482 0.2426 0.0951 0.0589 0.1007 0.2298 0.13 0.27 0.065 0.21 0.082 rs744455 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1234 0.2693 0.1406 0.0673 0.2497 0.1026 0.0594 0.0957 0.2313 0.1418 0.2612 0.1325 0.0629 0.2668 0.0950 0.0740 0.1110 het 1091.44 91 1 32557486 . A G 1091.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.833;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8911;MQ=58.82;MQ0=0;MQRankSum=0.420;QD=11.99;ReadPosRankSum=-1.108;VQSLOD=5.1707;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:42,45:91:99:1121,0,1157 1 32672908 32672908 T G exonic IQCC nonsynonymous SNV IQCC:NM_001160042:exon5:c.T866G:p.F289C,IQCC:NM_018134:exon5:c.T626G:p.F209C 0.23 0.31 0.24 0.23 0.057 0.29 0.1264 0.2939 0.1484 0.2398 0.0939 0.0593 0.1060 0.2315 0.14 0.29 0.065 0.22 0.082 rs3903683 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.091 0.204 N 1 0.090 P -1.495 0.005 N 3.11 0.082 T 5.57 0.000 N 0.068 0.055 -0.929 0.443 T 0.000 0.000 T . . . -1.398 0.019 0.003 0.576 0.057 0.001 0.008 N c -1.443 -1.376 1.000 0.429 0.660 0.495 0 2.32 0.278 1.092 0.303 -0.027 0.127 0.014 0.188 0.017 0.128 2.932 0.054 . ENSG00000220785.3|ENSG00000084652.11|ENSG00000220785.3|ENSG00000025800.9|ENSG00000220785.3 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Cells_Transformed_fibroblasts|Whole_Blood 0.1249 0.2913 0.1419 0.0676 0.2450 0.1014 0.0598 0.0955 0.2328 0.1469 0.2808 0.1348 0.0629 0.2602 0.0933 0.0743 0.1063 het 1204.87 96 1 32672908 . T G 1204.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.644;DP=96;Dels=0.00;FS=1.799;HRun=0;HaplotypeScore=0.8941;MQ=59.61;MQ0=0;MQRankSum=-1.165;QD=12.55;ReadPosRankSum=-0.996;VQSLOD=6.2838;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,44:96:99:1235,0,1315 1 32674927 32674927 T C exonic DCDC2B nonsynonymous SNV DCDC2B:NM_001099434:exon1:c.T233C:p.V78A 0.0014 . 0.0029 . 0.005 . 0.0053 0.0014 0.0061 0 0.0129 0.0068 0.0045 0.0006 0.0058 0.0012 0.0081 . . rs144804850 . . . . . . . . . . . . . 0.004 0.654 D 1.0 0.899 D 1.0 0.971 D . . . 1.000 0.494 D 3.43 0.922 M -4.22 0.970 D -3.73 0.709 D 0.861 0.848 0.919 0.960 D 0.936 0.979 D . . . 5.475 0.743 26.2 0.999 0.947 0.943 0.603 D c 0.825 0.759 1.000 0.747 0.421 0.056 0 5.16 0.704 7.580 0.817 0.964 0.580 1.000 0.715 1.000 0.888 14.958 0.707 Doublecortin domain . . 0.0058 0.0011 0.0050 0.0003 0 0.0161 0.0074 0.0057 0.0011 0.0063 0.0015 0.0060 0 0 0.0163 0.0074 0.0102 het 1594.20 134 1 32674927 . T C 1594.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.736;DP=134;Dels=0.00;FS=0.665;HRun=0;HaplotypeScore=4.7569;MQ=59.38;MQ0=0;MQRankSum=-0.428;QD=11.90;ReadPosRankSum=0.694;VQSLOD=3.9707;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:67,66:134:99:1624,0,1598 1 32842319 32842319 T C exonic BSDC1 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_001300958:exon9:c.A751G:p.I251V,BSDC1:NM_018045:exon9:c.A700G:p.I234V 0.0084 0.0008 0.0058 . 0.033 0.0041 0.0243 0.0044 0.0114 0.0001 0.0496 0.0330 0.0232 0.0050 0.027 0.0066 0.037 0.011 0.098 rs34885668 . . . . . . . . . . . . . 0.614 0.173 T 0.001 0.131 B 0.007 0.179 B 0.251 0.155 N 1 0.090 N 0 0.065 N 1.0 0.414 T 0.08 0.060 N 0.013 0.069 -1.050 0.144 T 0.012 0.045 T . . . -0.734 0.043 0.060 0.702 0.089 0.384 0.257 N c -0.954 -0.840 0.074 0.157 0.707 0.730 0 0.721 0.173 -0.144 0.102 -1.191 0.016 0.665 0.281 0.922 0.397 4.765 0.124 BSD domain . . 0.0252 0.0040 0.0110 0.0219 0.0002 0.0574 0.0321 0.0247 0.0061 0.0285 0.0039 0.0119 0.0099 0 0.0559 0.0405 0.0346 het 470.26 66 1 32842319 . T C 470.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.883;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6775;MQ=59.08;MQ0=0;MQRankSum=1.410;QD=7.13;ReadPosRankSum=-0.229;VQSLOD=5.4969;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:43,22:66:99:500,0,1192 1 33065947 33065947 G C exonic ZBTB8A nonsynonymous SNV ZBTB8A:NM_001040441:exon5:c.G1253C:p.G418A 1. 1. 1. 1. 1. 1. 1.0000 0.9999 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs704886 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1.0000 1 1 1 1.0000 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 3488.57 109 1 33065947 . G C 3488.57 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8184;MQ=59.43;MQ0=0;QD=32.01;VQSLOD=7.7755;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3488,262,0 1 33133968 33133968 T C exonic RBBP4 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 0.97 0.89 0.98 1. 1. 1. 0.9913 0.9064 0.9959 1 1 0.9997 0.9923 1 0.97 0.91 1. 0.98 0.98 rs2762904 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9932 0.9059 0.9953 0.9994 1 1 0.9997 0.9927 1.0000 0.9729 0.9055 0.9916 1 1 1 0.9998 0.9939 hom 3311.37 109 1 33133968 . T C 3311.37 Mask AC=2;AF=1.00;AN=2;DP=109;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.31;MQ0=0;QD=30.38;VQSLOD=9.3293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,109:109:99:3311,250,0 1 33235626 33235626 G A exonic KIAA1522 synonymous SNV KIAA1522:NM_001198972:exon6:c.G669A:p.A223A,KIAA1522:NM_020888:exon6:c.G846A:p.A282A 0.31 0.033 0.44 0.45 0.36 0.38 0.3680 0.0960 0.4557 0.4686 0.3562 0.3734 0.3414 0.3879 0.27 0.1 0.35 0.28 0.21 rs3737995 COSM3751145;COSM3751144 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3629 0.0877 0.4470 0.3032 0.4634 0.3493 0.3693 0.3540 0.3593 0.2811 0.0950 0.4057 0.2881 0.4364 0.3407 0.3480 0.3378 hom 2249.77 69 1 33235626 . G A 2249.77 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.67;MQ0=0;QD=32.61;VQSLOD=9.0045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2283,181,0 1 33236255 33236255 G A exonic KIAA1522 nonsynonymous SNV KIAA1522:NM_001198972:exon6:c.G1298A:p.R433H,KIAA1522:NM_020888:exon6:c.G1475A:p.R492H 0.0014 . . . 0.004 0.0031 0.0030 0.0002 0.0005 0 0.0115 0.0039 0.0015 0.0005 0.0022 0.0002 0.0032 . 0.025 rs116386430 . . . . . . . . . . . . . 0.017 0.512 D 0.956 0.527 P 0.301 0.393 B 0.000 0.629 D 1 0.810 D 2.095 0.583 M 2.52 0.142 T -2.64 0.606 D 0.688 0.694 -1.043 0.165 T 0.033 0.142 T . . . 3.463 0.474 23.0 0.998 0.840 0.468 0.276 N c 0.188 0.178 1.000 0.747 0.563 0.310 0 3.62 0.405 2.830 0.476 0.953 0.551 0.914 0.315 0.109 0.192 12.297 0.540 . . . 0.0031 0.0002 0.0009 0 0 0.0109 0.0038 0.0020 0.0004 0.0045 0.0006 0.0012 0 0 0.0109 0.0060 0.0071 het 401.64 39 1 33236255 . G A 401.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.724;DP=39;Dels=0.00;FS=1.293;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-1.050;QD=10.30;ReadPosRankSum=2.144;VQSLOD=4.5379;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:23,16:39:99:432,0,630 1 33820033 33820033 C T exonic PHC2 synonymous SNV PHC2:NM_001330488:exon7:c.G1440A:p.T480T,PHC2:NM_198040:exon8:c.G1524A:p.T508T 0.12 0.0083 0.072 0.29 0.12 0.11 0.1165 0.0267 0.0803 0.2559 0.1537 0.1214 0.1170 0.0902 0.088 0.028 0.12 0.065 0.11 rs16835408 COSM3751150 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1176 0.0244 0.0813 0.0966 0.2622 0.1543 0.1217 0.1087 0.0898 0.1084 0.0222 0.0839 0.0695 0.2932 0.1615 0.1274 0.1263 het 983.62 100 1 33820033 . C T 983.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.834;DP=100;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=3.5116;MQ=58.26;MQ0=0;MQRankSum=1.794;QD=9.84;ReadPosRankSum=0.442;VQSLOD=5.4803;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,41:100:99:1014,0,1481 1 33832865 33832865 A G exonic PHC2 synonymous SNV PHC2:NM_001330488:exon5:c.T741C:p.P247P,PHC2:NM_198040:exon6:c.T828C:p.P276P 0.73 0.88 0.49 0.77 0.63 0.74 0.6850 0.8703 0.4839 0.7781 0.6663 0.6666 0.6652 0.7437 0.73 0.85 0.67 0.8 0.7 rs6425816 COSM4143830 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6730 0.8731 0.4918 0.6975 0.7749 0.6753 0.6634 0.6548 0.7425 0.7209 0.8681 0.5155 0.6556 0.7803 0.6676 0.6603 0.6224 het 1397.13 112 1 33832865 . A G 1397.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.915;DP=112;Dels=0.00;FS=19.218;HRun=4;HaplotypeScore=0.8321;MQ=59.79;MQ0=0;MQRankSum=0.280;QD=12.47;ReadPosRankSum=0.811;VQSLOD=3.3906;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:57,55:112:99:1427,0,1615 1 33957152 33957152 T G exonic ZSCAN20 nonsynonymous SNV ZSCAN20:NM_145238:exon6:c.T1294G:p.Y432D 1. 1. 1. 1. 1. 1. 0.9944 0.9995 0.9996 1 0.9763 0.9925 0.9922 1 1. 1. 1. 1. 1. rs4403594 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.192 P -2.915 0.000 N 3.45 0.053 T 2.43 0.003 N 0.061 0.354 -0.966 0.381 T 0.000 0.000 T . . . 0.843 0.174 9.728 0.499 0.042 0.060 0.118 N c -0.867 -0.526 0.769 0.236 0.372 0.050 0 5.61 0.853 2.362 0.436 0.136 0.221 0.987 0.361 0.285 0.234 14.205 0.651 SANT/Myb domain . . 0.9948 0.9994 0.9995 1 1 0.9781 0.9935 0.9956 1 0.9940 0.9990 1 1 1 0.9768 0.9940 0.9939 hom 3117.55 93 1 33957152 . T G 3117.55 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8255;MQ=60.00;MQ0=0;QD=33.52;VQSLOD=8.9893;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:3151,247,0 1 33960062 33960062 A G exonic ZSCAN20 synonymous SNV ZSCAN20:NM_145238:exon8:c.A2118G:p.A706A 0.75 0.85 0.62 0.74 0.74 0.74 0.7443 0.8250 0.5276 0.7444 0.6947 0.7790 0.7257 0.7288 0.81 0.84 0.79 0.81 0.72 rs9943259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7317 0.8264 0.5495 0.6810 0.7446 0.6994 0.7853 0.7272 0.7224 0.7769 0.8318 0.6002 0.6954 0.7308 0.6975 0.7805 0.7694 hom 5605.23 179 1 33960062 . A G 5605.23 Mask AC=2;AF=1.00;AN=2;DP=179;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.1814;MQ=58.55;MQ0=0;QD=31.31;VQSLOD=8.1221;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,179:179:99:5604,451,0 1 34038214 34038214 T C exonic CSMD2 nonsynonymous SNV CSMD2:NM_001281956:exon50:c.A7654G:p.M2552V,CSMD2:NM_052896:exon51:c.A7660G:p.M2554V 0.51 0.54 0.65 0.41 0.49 0.48 0.4996 0.5201 0.7271 0.3764 0.5 0.4729 0.4747 0.5009 0.48 0.52 0.47 0.5 0.51 rs2641962 COSM3751157;COSM3751158 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.672 0.045 T 0.0 0.026 B 0.001 0.040 B 0.036 0.245 N 1 0.090 P -1.77 0.003 N -0.0 0.626 T 1.14 0.012 N 0.017 0.004 -0.933 0.437 T 0.000 0.000 T . . . -1.909 0.009 0.002 0.325 0.019 0.033 0.082 N c -1.620 -1.403 0.421 0.203 0.615 0.372 0 1.67 0.230 0.298 0.187 -1.712 0.008 0.118 0.229 0.573 0.284 6.160 0.194 Sushi/SCR/CCP domain ENSG00000121904.13 Thyroid 0.5091 0.5214 0.7102 0.6208 0.3778 0.4925 0.4613 0.5340 0.5026 0.4804 0.5129 0.6746 0.6358 0.3688 0.4914 0.4567 0.4835 het 2002.50 188 1 34038214 . T C 2002.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.640;DP=188;Dels=0.00;FS=1.165;HRun=0;HaplotypeScore=7.5173;MQ=59.13;MQ0=0;MQRankSum=-2.651;QD=10.65;ReadPosRankSum=-0.590;VQSLOD=2.7660;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,85:188:99:2032,0,2728 1 34329897 34329897 T C exonic HMGB4 synonymous SNV HMGB4:NM_145205:exon2:c.T105C:p.Y35Y 0.99 1. 0.99 1. 0.96 1. 0.9713 0.9913 0.9820 1 0.9675 0.9574 0.9679 0.9943 0.97 0.99 0.95 1. 0.84 rs911218 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9706 0.9919 0.9813 0.9832 0.9999 0.9682 0.9530 0.9655 0.9939 0.9660 0.9891 0.9857 0.9834 1 0.9634 0.9484 0.9613 hom 5723.05 190 1 34329897 . T C 5723.05 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7998;MQ=59.09;MQ0=0;QD=30.12;VQSLOD=8.6338;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5722,475,0 1 34663180 34663180 G A exonic C1orf94 synonymous SNV C1orf94:NM_001134734:exon2:c.G675A:p.R225R,C1orf94:NM_032884:exon2:c.G105A:p.R35R 0.12 0.13 0.11 0.058 0.16 0.099 0.1537 0.1535 0.1000 0.0532 0.1138 0.1918 0.1549 0.1061 0.18 0.16 0.2 0.054 0.26 rs3795412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1506 0.1511 0.1094 0.2192 0.0538 0.1135 0.1906 0.1668 0.1069 0.1549 0.1590 0.0907 0.2285 0.0568 0.1022 0.1787 0.1357 het 1864.91 107 1 34663180 . G A 1864.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.639;DP=107;Dels=0.00;FS=1.659;HRun=0;HaplotypeScore=2.7535;MQ=58.65;MQ0=0;MQRankSum=-0.068;QD=17.43;ReadPosRankSum=1.108;VQSLOD=5.1529;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:43,64:107:99:1895,0,1259 1 34663208 34663208 C G exonic C1orf94 nonsynonymous SNV C1orf94:NM_001134734:exon2:c.C703G:p.Q235E,C1orf94:NM_032884:exon2:c.C133G:p.Q45E 0.38 0.76 0.36 0.14 0.24 0.27 0.2847 0.6909 0.3119 0.1244 0.1583 0.2564 0.2489 0.2609 0.4 0.67 0.27 0.51 0.41 rs1382602 COSM5653452;COSM5653453 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.022 0.268 N 1 0.090 P -1.665 0.004 N 2.27 0.174 T 1.42 0.008 N 0.026 0.018 -0.986 0.336 T 0.000 0.000 T . . . -1.404 0.019 0.003 0.166 0.005 0.014 0.048 N c -1.175 -0.956 0.530 0.212 0.706 0.609 0 3.09 0.345 1.695 0.372 0.136 0.221 0.972 0.342 0.204 0.218 4.606 0.117 . . . 0.2756 0.7014 0.3098 0.2817 0.1242 0.1582 0.2581 0.2757 0.2582 0.3530 0.6934 0.2895 0.2848 0.1196 0.1427 0.2432 0.2200 het 1486.26 100 1 34663208 . C G 1486.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.420;DP=100;Dels=0.00;FS=4.984;HRun=1;HaplotypeScore=0.8321;MQ=59.40;MQ0=0;MQRankSum=-1.926;QD=14.86;ReadPosRankSum=-1.102;VQSLOD=4.0953;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:45,55:100:99:1516,0,1368 1 34663411 34663411 C G exonic C1orf94 nonsynonymous SNV C1orf94:NM_001134734:exon2:c.C906G:p.D302E,C1orf94:NM_032884:exon2:c.C336G:p.D112E 0.17 0.14 0.22 0.086 0.2 0.21 0.2021 0.1622 0.1971 0.0815 0.1379 0.2300 0.2053 0.2065 0.21 0.17 0.24 0.098 0.33 rs1414474 . . . . . . . . . . . . . 0.308 0.234 T 0.008 0.135 B 0.007 0.121 B 0.822 0.092 N 0.999 0.220 P 0.945 0.238 L 1.75 0.262 T -0.13 0.129 N 0.04 0.051 -0.995 0.314 T 0.000 0.000 T . . . 1.426 0.234 12.92 0.982 0.382 0.492 0.281 N c -0.542 -0.481 0.751 0.233 0.706 0.609 0 1.31 0.207 -0.105 0.108 -0.007 0.133 0.573 0.273 0.419 0.257 6.549 0.215 . . . 0.2007 0.1604 0.2037 0.2355 0.0791 0.1383 0.2319 0.2166 0.2040 0.1818 0.1682 0.1874 0.2417 0.0759 0.1247 0.2143 0.1622 het 1411.97 127 1 34663411 . C G 1411.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.233;DP=127;Dels=0.00;FS=0.675;HRun=0;HaplotypeScore=6.7259;MQ=59.52;MQ0=0;MQRankSum=-1.351;QD=11.12;ReadPosRankSum=0.174;VQSLOD=3.8699;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,52:127:99:1442,0,2122 1 35227008 35227011 TGTC - exonic GJB4 frameshift deletion GJB4:NM_153212:exon2:c.153_156del:p.V52Afs*54 . . . . . . 0.0336 0.0092 0.0152 0.0002 0.0539 0.0439 0.0333 0.0276 0.034 0.012 0.046 . . rs146812843 COSM5713027 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0328 0.0080 0.0145 0.0158 0.0001 0.0541 0.0454 0.0309 0.0270 0.0321 0.0077 0.0167 0.0167 0 0.0556 0.0432 0.0419 het 1761.34 77 1 35227007 . TTGTC T 1761.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.737;DP=77;FS=7.782;HRun=0;HaplotypeScore=376.5769;MQ=56.66;MQ0=0;MQRankSum=-0.161;QD=22.87;ReadPosRankSum=1.316;set=variant2 GT:AD:DP:GQ:PL 0/1:41,36:77:99:1800,0,3017 1 35250457 35250457 C T exonic GJB3 nonsynonymous SNV GJB3:NM_001005752:exon2:c.C94T:p.R32W,GJB3:NM_024009:exon2:c.C94T:p.R32W 0.013 0.0008 0.02 . 0.038 0.012 0.0242 0.0059 0.0062 0.0001 0.0543 0.0331 0.0211 0.0133 0.023 0.0082 0.031 0.022 0.049 rs1805063 . . Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Dominant RCV000039325.4|RCV000288928.1 MedGen|MedGen CN169374|CN239435 . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1.000 0.588 D 3.985 0.967 H -6.43 0.997 D -6.99 0.936 D 0.313 0.428 0.469 0.901 D 0.981 0.994 D . . . 5.898 0.809 27.5 0.999 0.981 0.846 0.434 D c 0.725 0.592 1.000 0.747 0.490 0.173 1 5.85 0.936 1.127 0.308 0.013 0.140 1.000 0.715 0.990 0.544 19.788 0.964 Connexin\x2c N-terminal . . 0.0237 0.0050 0.0073 0.0157 0.0001 0.0538 0.0327 0.0192 0.0129 0.0234 0.0045 0.0084 0.0132 0 0.0550 0.0300 0.0336 het 1561.85 119 1 35250457 . C T 1561.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.104;DP=119;Dels=0.00;FS=3.378;HRun=0;HaplotypeScore=5.1552;MQ=58.98;MQ0=0;MQRankSum=0.412;QD=13.12;ReadPosRankSum=-0.790;VQSLOD=4.5312;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:62,57:119:99:1592,0,1572 1 35259946 35259946 G A exonic GJA4 synonymous SNV GJA4:NM_002060:exon2:c.G132A:p.V44V 0.24 0.48 0.16 0.13 0.22 0.081 0.2044 0.4370 0.1002 0.1428 0.3100 0.2114 0.2081 0.0924 0.28 0.44 0.2 0.29 0.21 rs1764389 COSM146462 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1983 0.4416 0.1054 0.1857 0.1458 0.3106 0.2089 0.1921 0.0935 0.2780 0.4373 0.1041 0.2267 0.1323 0.3024 0.2074 0.2561 het 2181.73 233 1 35259946 . G A 2181.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.372;DP=233;Dels=0.00;FS=2.330;HRun=0;HaplotypeScore=7.9371;MQ=59.28;MQ0=0;MQRankSum=2.089;QD=9.36;ReadPosRankSum=-0.418;VQSLOD=3.5793;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,93:233:99:2212,0,3903 1 35259961 35259961 A G exonic GJA4 synonymous SNV GJA4:NM_002060:exon2:c.A147G:p.Q49Q 0.62 0.85 0.51 0.48 0.65 0.5 0.6175 0.8256 0.4546 0.4783 0.7136 0.6493 0.6399 0.5050 0.71 0.82 0.65 0.65 0.67 rs1764390 COSM3746944 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6087 0.8303 0.4665 0.6394 0.4742 0.7132 0.6444 0.6217 0.5114 0.6949 0.8361 0.4892 0.6667 0.4465 0.7023 0.6496 0.6926 het 2383.08 236 1 35259961 . A G 2383.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.321;DP=236;Dels=0.00;FS=0.493;HRun=0;HaplotypeScore=6.3038;MQ=59.29;MQ0=0;MQRankSum=-0.483;QD=10.10;ReadPosRankSum=0.447;VQSLOD=4.7418;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:143,93:236:99:2413,0,3737 1 35260769 35260769 C T exonic GJA4 nonsynonymous SNV GJA4:NM_002060:exon2:c.C955T:p.P319S 0.33 0.58 0.27 0.17 0.33 0.21 0.3134 0.5389 0.2376 0.1716 0.4314 0.3191 0.3103 0.2273 0.38 0.53 0.3 0.38 0.33 rs1764391 COSM4967511 9(soft_tissue);1(pancreas) . . . . . . . . . . . 0.802 0.031 T 0.0 0.026 B 0.0 0.013 B 0.088 0.024 N 1 0.090 P -0.585 0.023 N -4.25 0.971 D 0.34 0.038 N 0.025 0.007 -0.943 0.422 T 0.000 0.000 T . . . -0.871 0.037 0.030 0.540 0.049 0.036 0.087 N c -1.177 -1.057 0.086 0.160 0.646 0.450 0 0.013 0.134 -0.296 0.083 -0.202 0.102 0.000 0.063 0.176 0.212 5.862 0.179 . ENSG00000189280.3|ENSG00000189280.3 Artery_Tibial|Testis 0.3036 0.5394 0.2409 0.2909 0.1702 0.4285 0.3104 0.2989 0.2201 0.3873 0.5389 0.2566 0.3709 0.1553 0.4239 0.3240 0.3740 het 1257.12 113 1 35260769 . C T 1257.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.043;DP=113;Dels=0.00;FS=2.527;HRun=0;HaplotypeScore=2.7348;MQ=59.80;MQ0=0;MQRankSum=2.070;QD=11.12;ReadPosRankSum=-1.328;VQSLOD=5.4381;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,54:113:99:1287,0,1478 1 35562965 35562965 G A exonic ZMYM1 nonsynonymous SNV ZMYM1:NM_001289089:exon4:c.G217A:p.V73M,ZMYM1:NM_024772:exon4:c.G217A:p.V73M,ZMYM1:NM_001289088:exon5:c.G217A:p.V73M,ZMYM1:NM_001289090:exon5:c.G217A:p.V73M 0.83 0.8 0.74 0.74 0.92 0.93 0.8804 0.8185 0.7191 0.7640 0.8712 0.9257 0.8703 0.9124 0.89 0.83 0.93 0.81 0.96 rs2971408 COSM5426235 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.556 0.064 T 0.001 0.067 B 0.001 0.040 B 0.023 0.265 N 1 0.588 P -0.805 0.016 N 2.23 0.181 T 0.33 0.039 N 0.02 0.221 -1.052 0.139 T 0.000 0.000 T . . . 0.332 0.126 5.995 0.636 0.071 0.306 0.239 N c -1.186 -0.959 0.022 0.134 0.672 0.522 0 -0.077 0.130 0.069 0.143 -0.866 0.028 0.945 0.326 0.204 0.218 6.658 0.220 . ENSG00000197056.5|ENSG00000197056.5|ENSG00000197056.5 Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial 0.8745 0.8200 0.7319 0.9014 0.7668 0.8690 0.9300 0.8794 0.9103 0.8741 0.8182 0.7661 0.8808 0.7553 0.8641 0.9260 0.8980 hom 4775.54 158 1 35562965 . G A 4775.54 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6014;MQ=59.25;MQ0=0;QD=30.22;VQSLOD=8.8230;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:4775,367,0 1 36202585 36202585 G A exonic CLSPN nonsynonymous SNV CLSPN:NM_001190481:exon23:c.C3647T:p.S1216L,CLSPN:NM_001330490:exon24:c.C3839T:p.S1280L,CLSPN:NM_022111:exon24:c.C3839T:p.S1280L 0.05 0.082 0.04 0.001 0.069 0.047 0.0563 0.0885 0.0352 0.0007 0.0411 0.0615 0.0551 0.0652 0.071 0.082 0.065 0.011 0.041 rs35490896 . . . . . . . . . . . . . 0.043 0.486 D 0.007 0.131 B 0.006 0.184 B 0.007 0.320 N 0.831 0.287 N 1.965 0.534 M 1.66 0.275 T -3.97 0.736 D 0.144 0.188 -1.108 0.033 T 0.004 0.014 T . . . 4.642 0.622 24.5 0.996 0.722 0.953 0.640 D c -0.112 0.064 0.653 0.222 0.732 0.924 0 4.27 0.498 3.431 0.523 0.135 0.219 1.000 0.715 0.999 0.750 12.711 0.563 . ENSG00000142686.7|ENSG00000142686.7 Lung|Muscle_Skeletal 0.0554 0.0888 0.0343 0.0879 0.0006 0.0464 0.0613 0.0567 0.0673 0.0613 0.0848 0.0453 0.0960 0.0006 0.0475 0.0586 0.0460 het 1875.13 132 1 36202585 . G A 1875.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.536;DP=132;Dels=0.00;FS=1.381;HRun=2;HaplotypeScore=3.8745;MQ=58.94;MQ0=0;MQRankSum=-0.440;QD=14.21;ReadPosRankSum=0.809;VQSLOD=5.6276;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,70:132:99:1905,0,1637 1 36203660 36203662 TTC - exonic CLSPN nonframeshift deletion CLSPN:NM_001190481:exon21:c.3403_3405del:p.E1135del,CLSPN:NM_001330490:exon22:c.3595_3597del:p.E1199del,CLSPN:NM_022111:exon22:c.3595_3597del:p.E1199del 0.028 0.0015 0.035 0.001 0.068 0.047 0.0490 0.0100 0.0315 0.0010 0.0411 0.0611 0.0540 0.0653 0.046 0.0098 0.065 . . rs200760879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0477 0.0083 0.0241 0.0823 0.0008 0.0442 0.0583 0.0500 0.0620 0.0363 0.0078 0.0370 0.0967 0.0006 0.0330 0.0562 0.0377 het 1227.55 92 1 36203659 . TTTC T 1227.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.574;DP=92;FS=2.438;HRun=0;HaplotypeScore=368.8009;MQ=54.88;MQ0=0;MQRankSum=-0.455;QD=13.34;ReadPosRankSum=-0.386;set=variant2 GT:AD:DP:GQ:PL 0/1:58,34:92:99:1267,0,2176 1 36225948 36225948 T C exonic CLSPN nonsynonymous SNV CLSPN:NM_001190481:exon8:c.A1574G:p.N525S,CLSPN:NM_001330490:exon8:c.A1574G:p.N525S,CLSPN:NM_022111:exon8:c.A1574G:p.N525S 0.45 0.67 0.43 0.74 0.14 0.2 0.2718 0.6133 0.4689 0.7944 0.1555 0.1370 0.2489 0.2278 0.29 0.59 0.13 0.41 0.066 rs7537203 COSM5425391;COSM5425390 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.015 0.524 D 0.999 0.764 D 0.994 0.807 D 0.000 0.843 D 0.015 0.402 P 2.71 0.795 M 1.62 0.301 T -2.27 0.529 N 0.07 0.077 -1.044 0.160 T 0.000 0.000 T . . . 4.773 0.640 24.7 0.999 0.956 0.883 0.478 D c 0.603 0.565 1.000 0.747 0.707 0.730 0 5.08 0.682 3.627 0.537 1.011 0.635 1.000 0.715 1.000 0.888 13.406 0.602 . ENSG00000142686.7|ENSG00000142686.7|ENSG00000142686.7|ENSG00000092850.7|ENSG00000116871.11 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Lung|Thyroid|Whole_Blood 0.2695 0.6240 0.4476 0.2228 0.7969 0.1657 0.1289 0.2245 0.2072 0.3161 0.6173 0.4294 0.2483 0.8027 0.1672 0.1281 0.1741 het 1013.45 75 1 36225948 . T C 1013.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.827;DP=75;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.69;MQ0=0;MQRankSum=-0.821;QD=13.51;ReadPosRankSum=-0.313;VQSLOD=6.8613;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:38,37:75:99:1043,0,981 1 36316571 36316571 A C exonic AGO4 synonymous SNV AGO4:NM_017629:exon17:c.A2394C:p.S798S 0.49 0.14 0.54 0.25 0.85 0.8 0.7157 0.2423 0.5244 0.1941 0.8376 0.8573 0.7517 0.7965 0.66 0.26 0.86 0.46 0.9 rs4652895 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7161 0.2320 0.5435 0.7709 0.1910 0.8258 0.8637 0.7639 0.7979 0.6387 0.2431 0.5566 0.7450 0.1836 0.8226 0.8665 0.8078 het 748.43 72 1 36316571 . A C 748.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.970;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9578;MQ=60.00;MQ0=0;MQRankSum=1.160;QD=10.39;ReadPosRankSum=-0.091;VQSLOD=6.6346;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,31:72:99:778,0,1123 1 36553673 36553673 A G exonic TEKT2 synonymous SNV TEKT2:NM_014466:exon10:c.A1179G:p.T393T 0.94 0.91 0.94 1. 0.91 0.94 0.9252 0.9205 0.9629 0.9992 0.9031 0.9140 0.9211 0.9170 0.92 0.92 0.92 0.8 0.94 rs399393 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9267 0.9163 0.9628 0.9040 0.9995 0.9030 0.9158 0.9273 0.9152 0.9254 0.9268 0.9475 0.8742 0.9994 0.9024 0.9223 0.9172 het 689.08 74 1 36553673 . A G 689.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.248;DP=74;Dels=0.00;FS=11.419;HRun=0;HaplotypeScore=0.8321;MQ=58.87;MQ0=0;MQRankSum=-0.941;QD=9.31;ReadPosRankSum=-0.152;VQSLOD=4.0214;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:45,29:74:99:719,0,1155 1 36642420 36642420 T C exonic MAP7D1 synonymous SNV MAP7D1:NM_001286365:exon7:c.T1245C:p.S415S,MAP7D1:NM_018067:exon8:c.T1356C:p.S452S,MAP7D1:NM_001286366:exon9:c.T1260C:p.S420S 0.75 0.89 0.78 0.91 0.58 0.55 0.6682 0.8440 0.8331 0.9305 0.6070 0.5929 0.6398 0.5931 0.66 0.82 0.58 0.72 0.14 rs475591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6476 0.8447 0.8071 0.5182 0.9261 0.5681 0.5696 0.6238 0.5780 0.6776 0.8380 0.7769 0.5133 0.9190 0.5818 0.5829 0.6027 het 128.80 14 1 36642420 . T C 128.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.406;DP=14;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=55.54;MQ0=0;MQRankSum=0.545;QD=9.20;ReadPosRankSum=-1.276;VQSLOD=5.5494;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:7,7:14:99:159,0,204 1 36752433 36752433 C T exonic THRAP3 nonsynonymous SNV THRAP3:NM_001321473:exon4:c.C602T:p.A201V,THRAP3:NM_005119:exon4:c.C602T:p.A201V,THRAP3:NM_001321471:exon5:c.C602T:p.A201V 0.8 0.52 0.86 0.95 0.88 0.87 0.8625 0.5784 0.9248 0.9406 0.9173 0.8788 0.8590 0.8687 0.78 0.59 0.88 0.74 0.8 rs6425977 . . . . . . . . . . . . . 0.153 0.243 T 0.103 0.243 B 0.058 0.250 B 0.132 0.186 N 0.263 0.338 P 1.355 0.339 L 2.54 0.139 T -0.34 0.127 N 0.047 0.064 -1.020 0.238 T 0.000 0.000 T . . . 2.445 0.355 19.11 0.990 0.494 0.525 0.289 D c -0.394 -0.246 1.000 0.480 0.707 0.730 0 4.79 0.608 0.740 0.257 0.852 0.362 0.000 0.063 0.999 0.750 13.973 0.636 . ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8|ENSG00000116883.8 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood 0.8691 0.5725 0.9218 0.8221 0.9373 0.9094 0.8793 0.8722 0.8689 0.8015 0.5772 0.9010 0.8113 0.9333 0.9050 0.8828 0.8783 het 2267.16 145 1 36752433 . C T 2267.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.701;DP=145;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.0021;MQ=58.86;MQ0=0;MQRankSum=0.049;QD=15.64;ReadPosRankSum=-1.156;VQSLOD=5.6256;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,83:145:99:2297,0,1778 1 36807481 36807481 C T exonic STK40 nonsynonymous SNV STK40:NM_001282546:exon11:c.G1198A:p.A400T,STK40:NM_001282547:exon11:c.G1183A:p.A395T,STK40:NM_032017:exon12:c.G1183A:p.A395T 0.18 0.17 0.14 0.14 0.23 0.21 0.2128 0.1912 0.1185 0.1140 0.1963 0.2448 0.1944 0.2228 0.23 0.19 0.25 0.25 0.19 rs3795498 COSM3927627;COSM330293;COSM330292 1(haematopoietic_and_lymphoid_tissue);3(prostate);1(large_intestine) . . . . . . . . . . . 0.114 0.324 T 0.04 0.198 B 0.005 0.104 B 0.000 0.629 D 0.000 0.810 P 0.895 0.225 L -0.02 0.629 T -0.06 0.079 N 0.061 0.045 -1.106 0.034 T 0.000 0.000 T . . . 3.937 0.530 23.5 0.998 0.879 0.960 0.667 D c -0.102 0.112 1.000 0.747 0.707 0.730 0 5.11 0.691 5.743 0.681 0.919 0.430 1.000 0.715 0.979 0.486 17.506 0.876 . ENSG00000214193.5 Colon_Transverse 0.2074 0.1908 0.1288 0.1719 0.1162 0.1963 0.2490 0.2067 0.2227 0.2186 0.1975 0.1122 0.1821 0.1067 0.2064 0.2516 0.2331 het 803.29 70 1 36807481 . C T 803.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.925;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9979;MQ=59.67;MQ0=0;MQRankSum=-0.301;QD=11.48;ReadPosRankSum=0.808;VQSLOD=6.7424;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,32:70:99:833,0,1000 1 36887813 36887813 C A exonic OSCP1 nonsynonymous SNV OSCP1:NM_145047:exon7:c.G757T:p.V253L,OSCP1:NM_001330493:exon8:c.G787T:p.V263L 0.011 0.0015 0.04 . 0.022 0.0041 0.0211 0.0049 0.0477 0 0.0383 0.0243 0.0209 0.0038 0.014 0.0036 0.019 . . rs17442970 . . . . . . . . . . . . . 0.344 0.195 T 0.001 0.067 B 0.002 0.063 B 0.071 0.215 N 1.000 0.090 N 1.36 0.342 L 1.91 0.315 T -0.68 0.197 N 0.028 0.086 -1.051 0.141 T 0.024 0.102 T . . . 2.111 0.315 16.92 0.898 0.185 0.282 0.233 N c -0.850 -0.813 0.006 0.110 0.651 0.465 0 -0.414 0.117 0.910 0.280 -0.903 0.026 0.020 0.195 0.083 0.182 3.787 0.082 . . . 0.0210 0.0038 0.0440 0.0028 0 0.0372 0.0228 0.0226 0.0035 0.0179 0.0046 0.0382 0.0066 0 0.0392 0.0210 0.0285 het 1312.68 110 1 36887813 . C A 1312.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.128;DP=110;Dels=0.00;FS=2.905;HRun=1;HaplotypeScore=5.8699;MQ=58.78;MQ0=0;MQRankSum=0.253;QD=11.93;ReadPosRankSum=-0.854;VQSLOD=5.0867;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:61,49:110:99:1343,0,1428 1 36927733 36927733 G A exonic MRPS15 synonymous SNV MRPS15:NM_031280:exon3:c.C207T:p.P69P 0.98 0.99 0.98 1. 0.93 0.98 0.9479 0.9876 0.9795 0.9998 0.9076 0.9270 0.9460 0.9739 0.95 0.98 0.93 1. 0.96 rs7065 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9488 0.9876 0.9784 0.9756 0.9998 0.9082 0.9256 0.9522 0.9732 0.9461 0.9874 0.9749 0.9702 1 0.9084 0.9241 0.9287 hom 2821.69 92 1 36927733 . G A 2821.69 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7262;MQ=58.98;MQ0=0;QD=30.67;VQSLOD=9.5115;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2855,214,0 1 36937059 36937059 A G exonic CSF3R 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 0.59 0.74 0.4 0.45 0.57 0.71 0.5648 0.7212 0.3853 0.4048 0.5994 0.5575 0.5662 0.6916 0.61 0.72 0.55 0.62 0.46 rs3917981 COSM1748391;COSM1748390 3(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(thyroid) Benign not_specified RCV000248446.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5542 0.7266 0.3953 0.5441 0.4069 0.6059 0.5552 0.5662 0.6843 0.5927 0.7304 0.4165 0.5397 0.4061 0.6111 0.5399 0.5809 het 2984.52 235 1 36937059 . A G 2984.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.102;DP=235;DS;Dels=0.00;FS=1.011;HRun=2;HaplotypeScore=6.4736;MQ=58.76;MQ0=0;MQRankSum=0.282;QD=12.70;ReadPosRankSum=2.312;VQSLOD=4.4357;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,109:235:99:3015,0,3461 1 36937065 36937065 A G exonic CSF3R 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 0.25 0.17 0.2 0.13 0.34 0.41 0.3156 0.1959 0.2494 0.1025 0.3341 0.3478 0.3172 0.4114 0.3 0.2 0.35 0.23 0.32 rs3917980 COSM4143874;COSM4143873 1(thyroid) Benign not_specified RCV000243703.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3139 0.1971 0.2546 0.3551 0.0997 0.3424 0.3458 0.3243 0.4055 0.2815 0.2036 0.2404 0.3543 0.1168 0.3480 0.3277 0.3190 het 2946.95 231 1 36937065 . A G 2946.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.642;DP=231;DS;Dels=0.00;FS=5.512;HRun=3;HaplotypeScore=7.4694;MQ=58.37;MQ0=0;MQRankSum=0.346;QD=12.76;ReadPosRankSum=1.707;VQSLOD=3.9335;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,109:231:99:2977,0,3113 1 38019747 38019747 C T exonic SNIP1 synonymous SNV SNIP1:NM_024700:exon1:c.G84A:p.V28V 0.23 0.064 0.29 0.39 0.22 0.25 0.2183 0.0740 0.3541 0.3880 0.2284 0.1873 0.2037 0.2344 0.15 0.077 0.18 0.22 0.15 rs2273013 COSM1627042 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2229 0.0690 0.3448 0.1733 0.3861 0.2203 0.1850 0.2019 0.2280 0.1691 0.0662 0.3174 0.1689 0.3984 0.2183 0.1818 0.2094 het 764.45 57 1 38019747 . C T 764.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.667;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.60;MQ0=0;MQRankSum=0.072;QD=13.41;ReadPosRankSum=0.217;VQSLOD=6.5311;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,25:57:99:794,0,1043 1 38023316 38023316 C T exonic DNALI1 nonsynonymous SNV DNALI1:NM_003462:exon2:c.C260T:p.A87V 0.2 0.068 0.2 0.35 0.25 0.19 0.2360 0.0944 0.2285 0.3683 0.1892 0.2501 0.2665 0.2210 0.2 0.097 0.26 0.17 0.22 rs11749 COSM4143883 3(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.08 0.335 T 0.749 0.413 P 0.492 0.456 P 0.002 0.385 N 0.000 0.810 P 0.49 0.133 N 0.97 0.425 T -0.63 0.185 N 0.197 0.241 -0.909 0.470 T 0.000 0.000 T . . . 4.910 0.660 25.0 0.998 0.896 0.928 0.563 D c 0.253 0.391 1.000 0.747 0.660 0.490 0 5.76 0.907 3.981 0.564 0.892 0.403 1.000 0.715 1.000 0.888 17.450 0.874 . ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000134697.8|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163879.9|ENSG00000232273.1|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9|ENSG00000163875.11|ENSG00000163879.9 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Brain_Cerebellum|Brain_Cortex|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.2396 0.0882 0.2287 0.3261 0.3639 0.1899 0.2500 0.2636 0.2243 0.2007 0.0933 0.2428 0.3167 0.3644 0.1929 0.2434 0.1904 het 2641.16 248 1 38023316 . C T 2641.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.446;DP=248;DS;Dels=0.00;FS=3.032;HRun=0;HaplotypeScore=9.2660;MQ=59.06;MQ0=0;MQRankSum=0.515;QD=10.65;ReadPosRankSum=-2.748;VQSLOD=3.2466;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:141,107:248:99:2671,0,4284 1 38148765 38148765 A G exonic C1orf109 nonsynonymous SNV C1orf109:NM_001350755:exon5:c.T835C:p.Y279H,C1orf109:NM_001350756:exon5:c.T832C:p.Y278H,C1orf109:NM_001350760:exon5:c.T646C:p.Y216H,C1orf109:NM_001350761:exon5:c.T646C:p.Y216H,C1orf109:NM_001350764:exon5:c.T646C:p.Y216H,C1orf109:NM_001350762:exon7:c.T646C:p.Y216H,C1orf109:NM_001350763:exon7:c.T646C:p.Y216H 0.83 0.83 0.8 0.95 0.77 0.78 0.7846 0.8236 0.8128 0.9689 0.7629 0.7537 0.7395 0.7800 0.77 0.82 0.74 0.84 0.75 rs684260 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7851 0.8226 0.8109 0.7163 0.9698 0.7631 0.7557 0.7694 0.7819 0.7938 0.8139 0.8067 0.7467 0.9698 0.7633 0.7707 0.7902 hom 2475.38 79 1 38148765 . A G 2475.38 Mask AC=2;AF=1.00;AN=2;DP=79;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.0979;MQ=58.04;MQ0=0;QD=31.33;VQSLOD=8.6867;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,79:79:99:2508,196,0 1 38185647 38185647 G A exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon14:c.C2496T:p.F832F 0.056 0.057 0.048 0.028 0.11 0.034 0.0694 0.0706 0.0487 0.0149 0.0664 0.0887 0.0689 0.0348 0.086 0.066 0.096 0.065 0.082 rs2170809 COSM3746954 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0703 0.0676 0.0515 0.1091 0.0152 0.0637 0.0915 0.0863 0.0352 0.0715 0.0642 0.0692 0.1126 0.0154 0.0647 0.0828 0.0704 het 1974.79 160 1 38185647 . G A 1974.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.755;DP=160;Dels=0.00;FS=2.809;HRun=2;HaplotypeScore=1.6828;MQ=59.48;MQ0=0;MQRankSum=1.225;QD=12.34;ReadPosRankSum=-0.217;VQSLOD=5.9047;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,76:160:99:2005,0,2063 1 38185723 38185723 C T exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon14:c.G2420A:p.R807Q 0.045 0.017 0.045 0.028 0.11 0.034 0.0660 0.0315 0.0464 0.0149 0.0666 0.0888 0.0705 0.0348 0.072 0.031 0.093 0.054 0.049 rs6670599 COSM4970363 1(central_nervous_system) . . . . . . . . . . . 0.001 0.784 D 0.985 0.592 D 0.566 0.479 P 0.004 0.338 N 0.005 0.810 P 0.36 0.120 N 0.02 0.623 T -1.55 0.375 N 0.237 0.296 -0.958 0.395 T 0.006 0.020 T . . . 7.169 0.944 34 0.999 0.999 0.601 0.308 D c 0.352 0.393 0.999 0.378 0.554 0.246 0 4.66 0.577 4.892 0.626 0.810 0.333 1.000 0.715 0.574 0.284 7.130 0.245 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000183317.12|ENSG00000183317.12 Esophagus_Muscularis|Nerve_Tibial 0.0673 0.0290 0.0492 0.1091 0.0152 0.0637 0.0913 0.0842 0.0351 0.0618 0.0304 0.0658 0.1126 0.0148 0.0650 0.0827 0.0694 het 725.38 63 1 38185723 . C T 725.38 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.302;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9774;MQ=58.43;MQ0=0;MQRankSum=0.369;QD=11.51;ReadPosRankSum=1.562;VQSLOD=5.7857;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,27:63:99:755,0,860 1 38186206 38186206 C G exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon13:c.G2229C:p.V743V 0.045 0.017 0.045 0.028 0.11 0.034 0.0740 0.0366 0.0512 0.0169 0.0816 0.0988 0.0777 0.0381 0.073 0.034 0.093 0.054 0.049 rs12726343 COSM3746955 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0667 0.0291 0.0487 0.1085 0.0151 0.0634 0.0905 0.0840 0.0346 0.0621 0.0313 0.0680 0.1126 0.0154 0.0645 0.0826 0.0694 het 262.18 22 1 38186206 . C G 262.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.313;DP=22;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.263;QD=11.92;ReadPosRankSum=0.525;VQSLOD=10.9069;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:11,11:22:99:292,0,293 1 38187447 38187447 A G exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon11:c.T2031C:p.H677H 0.19 0.3 0.16 0.029 0.26 0.14 0.2288 0.3355 0.1196 0.0164 0.2599 0.2710 0.2188 0.1805 0.27 0.29 0.26 0.23 0.26 rs579908 COSM3746956 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2143 0.3147 0.1171 0.2631 0.0151 0.2490 0.2608 0.2305 0.1758 0.2574 0.3128 0.1504 0.24 0.0166 0.2589 0.2587 0.2352 het 433.72 29 1 38187447 . A G 433.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.513;DP=29;Dels=0.00;FS=1.536;HRun=0;HaplotypeScore=0.9469;MQ=60.00;MQ0=0;MQRankSum=-0.504;QD=14.96;ReadPosRankSum=-1.688;VQSLOD=5.2368;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:13,16:29:99:464,0,358 1 38187453 38187453 G A exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon11:c.C2025T:p.A675A 0.045 0.017 0.045 0.028 0.11 0.034 0.0704 0.0360 0.0485 0.0152 0.0753 0.0943 0.0778 0.0375 0.073 0.032 0.092 0.054 0.074 rs33970734 COSM3746957 1(NS);1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0657 0.0285 0.0476 0.1072 0.0144 0.0624 0.0894 0.0823 0.0344 0.0619 0.0303 0.0680 0.1126 0.0154 0.0648 0.0827 0.0694 het 342.22 24 1 38187453 . G A 342.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.144;DP=24;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.761;QD=14.26;ReadPosRankSum=-1.126;VQSLOD=10.4648;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:12,12:24:99:372,0,330 1 38188740 38188740 C T exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon10:c.G1933A:p.V645I 0.045 0.017 0.048 0.028 0.11 0.034 0.0667 0.0314 0.0536 0.0150 0.0667 0.0888 0.0702 0.0349 0.073 0.032 0.094 0.022 0.074 rs12405650 COSM3746958 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.920 0.075 N 0.986 0.247 P -0.12 0.045 N 0.1 0.614 T 0.23 0.046 N 0.053 0.256 -1.035 0.189 T 0.003 0.008 T . . . 0.523 0.144 7.602 0.127 0.002 0.296 0.236 N c -0.895 -0.769 1.000 0.427 0.554 0.246 0 2.02 0.255 1.483 0.349 -0.076 0.119 0.896 0.311 0.692 0.307 4.976 0.134 Protein kinase domain|Protein kinase-like domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000183317.12|ENSG00000183317.12 Esophagus_Muscularis|Nerve_Tibial 0.0684 0.0288 0.0554 0.1089 0.0153 0.0635 0.0917 0.0849 0.0352 0.0618 0.0303 0.0718 0.1126 0.0155 0.0647 0.0825 0.0694 het 1459.44 118 1 38188740 . C T 1459.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.091;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7985;MQ=58.92;MQ0=0;MQRankSum=-0.227;QD=12.37;ReadPosRankSum=-0.378;VQSLOD=6.2013;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,55:118:99:1489,0,1605 1 38188768 38188768 C T exonic EPHA10 synonymous SNV EPHA10:NM_001099439:exon10:c.G1905A:p.L635L 0.045 0.017 0.045 0.028 0.11 0.034 0.0659 0.0312 0.0461 0.0148 0.0666 0.0886 0.0702 0.0348 0.073 0.032 0.093 0.054 0.082 rs17464871 COSM3746959 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0674 0.0289 0.0492 0.1090 0.0152 0.0635 0.0914 0.0842 0.0352 0.0617 0.0304 0.0658 0.1126 0.0154 0.0647 0.0826 0.0692 het 1298.21 113 1 38188768 . C T 1298.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.228;DP=113;Dels=0.00;FS=2.446;HRun=0;HaplotypeScore=1.5362;MQ=58.97;MQ0=0;MQRankSum=0.009;QD=11.49;ReadPosRankSum=1.024;VQSLOD=6.5223;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,51:113:99:1328,0,1829 1 38188787 38188787 A G exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon10:c.T1886C:p.L629P 0.045 0.017 0.045 0.028 0.11 0.034 0.0660 0.0313 0.0460 0.0149 0.0665 0.0888 0.0702 0.0349 0.073 0.032 0.093 0.054 0.082 rs17511304 COSM3746960 1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.004 0.344 N 0.000 0.497 P -2.34 0.001 N 5.12 0.013 T 8.39 0.000 N 0.062 0.417 -0.993 0.319 T 0.000 0.000 T . . . 0.379 0.131 6.430 0.060 0.000 0.057 0.115 N c -1.114 -0.834 1.000 0.517 0.615 0.372 0 4.36 0.515 4.528 0.601 0.041 0.156 1.000 0.715 0.991 0.552 11.505 0.495 Ephrin receptor\x2c transmembrane domain ENSG00000183317.12|ENSG00000183317.12 Esophagus_Muscularis|Nerve_Tibial 0.0674 0.0289 0.0491 0.1089 0.0152 0.0635 0.0915 0.0841 0.0351 0.0618 0.0304 0.0680 0.1067 0.0154 0.0647 0.0828 0.0692 het 1298.77 108 1 38188787 . A G 1298.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.831;DP=108;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6006;MQ=58.69;MQ0=0;MQRankSum=-1.637;QD=12.03;ReadPosRankSum=-0.486;VQSLOD=5.4280;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,51:108:99:1329,0,1523 1 38227086 38227086 A T exonic EPHA10 nonsynonymous SNV EPHA10:NM_001099439:exon3:c.T841A:p.F281I,EPHA10:NM_173641:exon3:c.T841A:p.F281I 0.35 0.44 0.3 0.48 0.28 0.21 0.3015 0.4065 0.3051 0.4424 0.3687 0.2872 0.2494 0.1957 0.31 0.4 0.27 0.35 0.27 rs4653328 COSM3749052 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.554 0.089 T 0.0 0.102 B 0.0 0.040 B 0.889 0.087 N 1.000 0.195 P -1.245 0.008 N -4.32 0.972 D 0.94 0.015 N 0.047 0.028 -1.011 0.265 T 0.000 0.000 T . . . -0.010 0.093 2.492 0.861 0.158 0.024 0.068 N c -1.459 -1.365 0.000 0.029 0.497 0.185 0 -1.55 0.081 -1.192 0.031 -0.222 0.097 0.000 0.063 0.257 0.229 3.998 0.090 . ENSG00000204084.8|ENSG00000230955.1|ENSG00000204084.8 Adipose_Subcutaneous|Adipose_Subcutaneous|Skin_Sun_Exposed_Lower_leg 0.2983 0.4106 0.3093 0.1174 0.4450 0.3751 0.2944 0.2719 0.1948 0.3512 0.4168 0.3113 0.1026 0.4557 0.3707 0.3061 0.3248 het 1669.11 116 1 38227086 . A T 1669.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.307;DP=116;DS;Dels=0.00;FS=4.615;HRun=0;HaplotypeScore=3.2726;MQ=58.43;MQ0=0;MQRankSum=-0.857;QD=14.39;ReadPosRankSum=-1.128;VQSLOD=4.7241;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,61:116:99:1699,0,1510 1 38289383 38289383 T C exonic MTF1 synonymous SNV MTF1:NM_005955:exon8:c.A1170G:p.T390T 0.21 0.063 0.21 0.26 0.28 0.28 0.2655 0.1032 0.2034 0.2772 0.3871 0.2892 0.2875 0.2590 0.23 0.1 0.29 0.2 0.3 rs12751325 COSM3746961 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2692 0.0989 0.2027 0.3137 0.2766 0.3824 0.2902 0.2664 0.2509 0.2578 0.0958 0.2026 0.3146 0.2679 0.4011 0.3156 0.3184 hom 1506.88 50 1 38289383 . T C 1506.88 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.14;VQSLOD=14.2023;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1540,117,0 1 38338795 38338795 A G exonic INPP5B nonsynonymous SNV INPP5B:NM_001297434:exon13:c.T1502C:p.M501T,INPP5B:NM_001350227:exon13:c.T1334C:p.M445T,INPP5B:NM_001350228:exon16:c.T1334C:p.M445T,INPP5B:NM_005540:exon19:c.T1994C:p.M665T 0.52 0.3 0.6 0.48 0.73 0.62 0.6401 0.3607 0.5557 0.4994 0.7880 0.7114 0.6233 0.5920 0.6 0.38 0.7 0.5 0.76 rs11488569 COSM4417137 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.879 0.033 T 0.0 0.026 B 0.0 0.013 B 0.944 0.083 N 1 0.090 P -1.13 0.009 N -3.09 0.926 D 2.35 0.003 N 0.033 0.013 -0.950 0.410 T 0.000 0.000 T . . . -0.327 0.066 0.577 0.434 0.032 0.031 0.080 N c -1.207 -0.979 0.000 0.060 0.707 0.730 0 2.59 0.300 2.062 0.408 -0.278 0.085 0.990 0.367 0.925 0.399 5.429 0.156 Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase ENSG00000183431.7|ENSG00000197982.12|ENSG00000183386.5|ENSG00000183386.5|ENSG00000204084.8|ENSG00000183431.7|ENSG00000183386.5|ENSG00000230955.1|ENSG00000183431.7|ENSG00000183431.7|ENSG00000183386.5|ENSG00000230955.1|ENSG00000183431.7|ENSG00000183386.5|ENSG00000204084.8|ENSG00000183431.7|ENSG00000183386.5|ENSG00000204084.8|ENSG00000230955.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood|Whole_Blood 0.6440 0.3529 0.5677 0.6633 0.4981 0.7836 0.7136 0.6404 0.5943 0.6016 0.3554 0.5549 0.6556 0.5025 0.7838 0.7090 0.6830 hom 5717.36 199 1 38338795 . A G 5717.36 Mask AC=2;AF=1.00;AN=2;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9090;MQ=59.09;MQ0=0;QD=28.73;VQSLOD=8.3976;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,199:199:99:5716,451,0 1 38411445 38411445 G A exonic INPP5B synonymous SNV INPP5B:NM_005540:exon3:c.C135T:p.H45H 0.2 0.043 0.23 0.24 0.32 0.24 0.2858 0.0856 0.2239 0.2332 0.44 0.3318 0.2775 0.2280 0.23 0.085 0.31 0.17 0.26 rs871524 COSM3751175;COSM3751176 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2867 0.0795 0.2303 0.2913 0.2324 0.4350 0.3287 0.2737 0.2233 0.2772 0.0760 0.2261 0.2848 0.2146 0.4332 0.3615 0.3696 hom 4424.78 147 1 38411445 . G A 4424.78 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.10;VQSLOD=12.8080;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4424,349,0 1 39340282 39340282 C T exonic GJA9 nonsynonymous SNV GJA9:NM_030772:exon2:c.G1489A:p.V497I 0.31 0.15 0.48 0.27 0.45 0.31 0.3937 0.1790 0.4932 0.2775 0.4142 0.4416 0.3844 0.3185 0.36 0.19 0.46 0.26 0.39 rs880303 COSM5426246 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.494 0.079 T 0.0 0.026 B 0.0 0.013 B 0.001 0.006 N 1 0.090 P 0 0.065 N -4.36 0.973 D -0.05 0.078 N 0.022 0.007 -0.878 0.499 T 0.000 0.000 T . . . -0.332 0.066 0.560 0.742 0.102 0.055 0.113 N c -1.517 -1.564 1.000 0.747 0.370 0.049 0 -4.7 0.030 0.364 0.199 -0.892 0.027 0.000 0.063 0.076 0.179 1.938 0.031 . ENSG00000158315.6 Esophagus_Mucosa 0.4043 0.1710 0.4859 0.4814 0.2812 0.4115 0.4438 0.4351 0.3214 0.3596 0.1770 0.4797 0.4636 0.2910 0.4095 0.4497 0.4070 het 1777.29 155 1 39340282 . C T 1777.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.213;DP=155;Dels=0.00;FS=4.883;HRun=0;HaplotypeScore=4.9333;MQ=57.89;MQ0=0;MQRankSum=1.443;QD=11.47;ReadPosRankSum=0.690;VQSLOD=4.6689;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:83,71:155:99:1807,0,1936 1 39340607 39340607 A G exonic GJA9 synonymous SNV GJA9:NM_030772:exon2:c.T1164C:p.R388R 0.054 0.018 0.05 0.082 0.071 0.058 0.0840 0.0365 0.0434 0.0820 0.0555 0.1047 0.0850 0.0708 0.08 0.039 0.1 0.043 0.098 rs16825625 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0810 0.0350 0.0441 0.1230 0.0803 0.0542 0.1024 0.0894 0.0713 0.0755 0.0324 0.0564 0.1457 0.0698 0.0619 0.1039 0.0764 het 1252.39 125 1 39340607 . A G 1252.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.026;DP=125;Dels=0.00;FS=0.673;HRun=0;HaplotypeScore=0.8941;MQ=59.82;MQ0=0;MQRankSum=-1.380;QD=10.02;ReadPosRankSum=0.555;VQSLOD=5.6480;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,55:125:99:1282,0,1751 1 39352271 39352271 G T exonic RHBDL2 nonsynonymous SNV RHBDL2:NM_001304746:exon8:c.C1057A:p.L353M,RHBDL2:NM_017821:exon8:c.C817A:p.L273M 0.31 0.15 0.48 0.27 0.45 0.31 0.3937 0.1795 0.4934 0.2776 0.4139 0.4415 0.3844 0.3184 0.36 0.19 0.46 0.26 0.41 rs2147914 COSM5425531;COSM5425532 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.21 0.196 T 0.994 0.647 D 0.854 0.591 P 0.000 0.629 D 0.002 0.442 P 2.25 0.640 M 1.41 0.334 T 0.14 0.054 N 0.214 0.271 -0.847 0.522 T 0.000 0.000 T . . . 4.315 0.578 24.0 0.994 0.648 0.866 0.456 D c 0.574 0.619 0.938 0.273 0.554 0.283 0 6.03 0.978 2.816 0.475 1.048 0.713 1.000 0.715 0.996 0.625 10.462 0.436 . ENSG00000158315.6 Esophagus_Mucosa 0.4025 0.1701 0.4825 0.4807 0.2792 0.4111 0.4430 0.4320 0.3179 0.3591 0.1769 0.4809 0.4636 0.2884 0.4094 0.4490 0.4061 het 2681.63 236 1 39352271 . G T 2681.63 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.972;DP=236;Dels=0.00;FS=4.611;HRun=0;HaplotypeScore=5.6101;MQ=58.76;MQ0=0;MQRankSum=2.653;QD=11.36;ReadPosRankSum=-0.324;VQSLOD=4.1483;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:132,104:236:99:2712,0,3805 1 39748921 39748921 G A exonic MACF1 synonymous SNV MACF1:NM_012090:exon7:c.G771A:p.Q257Q 0.59 0.27 0.67 0.65 0.72 0.8 0.6818 0.3383 0.7069 0.6356 0.7455 0.7035 0.6998 0.7906 0.58 0.35 0.69 0.48 0.66 rs2275188 COSM3751179;COSM3751180 1(breast);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6865 0.3349 0.7040 0.6871 0.6333 0.7417 0.6988 0.6996 0.7851 0.5995 0.3402 0.7045 0.6821 0.6146 0.7473 0.7007 0.6892 hom 2917.79 99 1 39748921 . G A 2917.79 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9983;MQ=58.10;MQ0=0;QD=29.47;VQSLOD=8.1120;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2951,226,0 1 39957913 39957913 A G exonic BMP8A nonsynonymous SNV BMP8A:NM_181809:exon1:c.A250G:p.M84V 0.67 0.29 0.81 0.68 0.89 0.86 0.8538 0.4502 0.8445 0.6773 0.8837 0.9070 0.8620 0.8864 0.79 0.52 0.92 0.35 0.4 rs4660269 COSM3746962 1(liver);2(thyroid) . . . . . . . . . . . 0.163 0.234 T 0.008 0.135 B 0.021 0.181 B 0.000 0.629 U 0.016 0.401 P 2.155 0.604 M -0.1 0.643 T -1.86 0.435 N 0.095 0.095 -1.003 0.292 T 0.000 0.000 T . . . 1.127 0.202 11.36 0.960 0.277 0.625 0.315 D c -0.359 -0.245 1.000 0.747 0.598 0.340 0 3.32 0.370 0.929 0.282 0.895 0.411 1.000 0.715 0.923 0.397 7.876 0.286 Transforming growth factor-beta\x2c N-terminal ENSG00000198754.5|ENSG00000198754.5|ENSG00000183682.7 Artery_Tibial|Cells_Transformed_fibroblasts|Heart_Atrial_Appendage 0.8504 0.3795 0.8307 0.9315 0.6590 0.8775 0.9024 0.8603 0.8825 0.7361 0.3715 0.8267 0.9448 0.6320 0.8740 0.9106 0.8573 hom 328.60 14 1 39957913 . A G 328.60 Mask AC=2;AF=1.00;AN=2;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.21;MQ0=0;QD=23.47;VQSLOD=6.8130;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,14:14:30.08:362,30,0 1 40098328 40098328 T C exonic HEYL nonsynonymous SNV HEYL:NM_014571:exon2:c.A140G:p.H47R 0.99 1. 0.99 1. 0.99 0.96 0.9887 0.9981 0.9969 0.9999 0.9979 0.9894 0.9912 0.9646 0.99 1. 0.99 1. 0.92 rs784625 COSM4143924 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.197 P -2.73 0.000 N -4.55 0.978 D 4.54 0.000 N 0.046 0.290 -0.915 0.462 T 0.000 0.000 T . . . 0.757 0.166 9.194 0.905 0.192 0.014 0.046 N c -0.907 -0.570 1.000 0.747 0.635 0.417 0 4.16 0.480 5.048 0.638 0.022 0.145 1.000 0.715 0.997 0.653 8.261 0.308 Myc-type\x2c basic helix-loop-helix (bHLH) domain . . 0.9889 0.9986 0.9961 0.9623 0.9998 0.9978 0.9909 0.9905 0.9647 0.9951 0.9987 0.9928 0.9636 1 0.9969 0.9929 0.9939 hom 7565.31 245 1 40098328 . T C 7565.31 Mask AC=2;AF=1.00;AN=2;DP=245;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2090;MQ=59.58;MQ0=0;QD=30.88;VQSLOD=5.6540;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,244:245:99:7564,611,0 1 40129066 40129066 G A exonic NT5C1A synonymous SNV NT5C1A:NM_032526:exon4:c.C474T:p.S158S 0.041 0.003 0.022 0.11 0.044 0.032 0.0428 0.0086 0.0335 0.1144 0.0556 0.0422 0.0332 0.0311 0.031 0.011 0.042 0.033 0.033 rs4660340 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0436 0.0074 0.0365 0.0216 0.1133 0.0547 0.0438 0.0366 0.0302 0.0372 0.0082 0.0394 0.0066 0.1197 0.0516 0.0421 0.0418 het 695.97 54 1 40129066 . G A 695.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.584;DP=54;Dels=0.00;FS=4.861;HRun=0;HaplotypeScore=3.8046;MQ=59.31;MQ0=0;MQRankSum=-0.121;QD=12.89;ReadPosRankSum=0.052;VQSLOD=4.7553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,27:54:99:726,0,778 1 40149642 40149642 G T exonic HPCAL4 synonymous SNV HPCAL4:NM_016257:exon3:c.C345A:p.R115R,HPCAL4:NM_001282396:exon4:c.C345A:p.R115R 0.86 0.92 0.83 0.82 0.82 0.87 0.8273 0.8829 0.8376 0.7934 0.8243 0.8091 0.8532 0.8760 0.83 0.88 0.81 0.76 0.86 rs784634 COSM426246 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8272 0.8834 0.8378 0.8673 0.7928 0.8333 0.8022 0.8255 0.8799 0.8337 0.8773 0.8425 0.9272 0.7978 0.8239 0.8117 0.8415 hom 3541.12 111 1 40149642 . G T 3541.12 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=58.42;MQ0=0;QD=31.90;VQSLOD=8.9059;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,111:111:99:3541,286,0 1 40150156 40150156 G A exonic HPCAL4 synonymous SNV HPCAL4:NM_001282397:exon2:c.C120T:p.S40S,HPCAL4:NM_016257:exon2:c.C120T:p.S40S,HPCAL4:NM_001282396:exon3:c.C120T:p.S40S 0.36 0.48 0.24 0.27 0.35 0.36 0.3393 0.4630 0.2150 0.2844 0.3639 0.3310 0.3470 0.4014 0.37 0.46 0.33 0.3 0.47 rs9662128 COSM146475 1(stomach);2(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3283 0.4640 0.2200 0.3011 0.2715 0.3594 0.3308 0.3239 0.3884 0.3668 0.4653 0.2338 0.2351 0.2809 0.3533 0.3334 0.3487 het 817.88 69 1 40150156 . G A 817.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.870;DP=69;Dels=0.00;FS=0.993;HRun=0;HaplotypeScore=0.9989;MQ=59.30;MQ0=0;MQRankSum=0.030;QD=11.85;ReadPosRankSum=2.316;VQSLOD=5.9974;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,32:69:99:848,0,960 1 40349131 40349131 G A exonic TRIT1 synonymous SNV TRIT1:NM_001312691:exon1:c.C33T:p.P11P,TRIT1:NM_001312692:exon1:c.C33T:p.P11P,TRIT1:NM_017646:exon1:c.C33T:p.P11P 0.51 0.62 0.41 0.59 0.39 0.46 0.4452 0.5760 0.4893 0.5952 0.4184 0.3994 0.4233 0.4498 0.45 0.57 0.39 0.42 0.37 rs3845570 COSM5827897;COSM426251 1(upper_aerodigestive_tract);2(large_intestine) Benign not_specified RCV000441470.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4409 0.5817 0.4718 0.4645 0.5971 0.4044 0.3923 0.4101 0.4480 0.4564 0.5748 0.4713 0.4633 0.5800 0.4110 0.3861 0.4226 het 548.30 43 1 40349131 . G A 548.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.547;DP=43;Dels=0.00;FS=6.684;HRun=0;HaplotypeScore=1.6828;MQ=58.92;MQ0=0;MQRankSum=-0.547;QD=12.75;ReadPosRankSum=-0.328;VQSLOD=4.8603;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:22,21:43:99:578,0,580 1 40363054 40363054 G C exonic MYCL nonsynonymous SNV MYCL:NM_001033081:exon2:c.C1085G:p.T362S,MYCL:NM_001033082:exon3:c.C1175G:p.T392S 0.94 1. 0.9 1. 0.89 0.86 0.8865 0.9776 0.8654 0.9994 0.8916 0.8718 0.8756 0.8384 0.9 0.97 0.87 0.97 0.9 rs3134614 COSM3927628 1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -0.77 0.017 N -0.9 0.773 T 0.17 0.051 N 0.057 0.048 -0.955 0.401 T 0.000 0.000 T . . . 0.145 0.108 4.091 0.818 0.134 0.109 0.161 N c -0.624 -0.369 1.000 0.747 0.646 0.442 0 4.53 0.548 2.284 0.429 0.012 0.140 1.000 0.715 0.999 0.750 5.637 0.167 . ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11|ENSG00000043514.11 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8842 0.9772 0.8712 0.8575 0.9992 0.8938 0.8729 0.8914 0.8263 0.9116 0.9750 0.8568 0.8477 0.9975 0.8808 0.8796 0.8707 hom 5269.01 172 1 40363054 . G C 5269.01 Mask AC=2;AF=1.00;AN=2;DP=172;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2337;MQ=59.57;MQ0=0;QD=30.63;VQSLOD=8.7628;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5268,400,0 1 40533266 40533266 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T685G:p.C229G,CAP1:NM_001330502:exon8:c.T682G:p.C228G,CAP1:NM_001350476:exon8:c.T685G:p.C229G,CAP1:NM_001350477:exon8:c.T685G:p.C229G,CAP1:NM_001350479:exon8:c.T685G:p.C229G,CAP1:NM_001350480:exon8:c.T685G:p.C229G,CAP1:NM_001350481:exon8:c.T685G:p.C229G,CAP1:NM_001350482:exon8:c.T682G:p.C228G,CAP1:NM_001350483:exon8:c.T682G:p.C228G,CAP1:NM_001350485:exon8:c.T682G:p.C228G,CAP1:NM_006367:exon8:c.T685G:p.C229G,CAP1:NM_001350475:exon9:c.T685G:p.C229G,CAP1:NM_001350478:exon9:c.T685G:p.C229G,CAP1:NM_001350484:exon9:c.T682G:p.C228G 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.89 rs11207440 COSM4591832 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.664 0.052 T 0.0 0.026 B 0.0 0.013 B 0.005 0.333 N 1.000 0.207 P -1.795 0.003 N 2.85 0.207 T -0.01 0.072 N 0.384 0.444 -0.960 0.392 T 0.000 0.000 T . . . 1.865 0.285 15.37 0.850 0.151 0.270 0.229 N c -0.757 -0.496 1.000 0.747 0.707 0.730 0 4.56 0.555 1.555 0.357 0.136 0.221 0.873 0.306 0.973 0.468 12.227 0.536 Adenylate cyclase-associated CAP\x2c N-terminal . . 1 1 1 1 1 1 1 1 1 1.0000 1 1 1 1 1 0.9999 1 hom 1881.72 60 1 40533266 . T G 1881.72 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3990;MQ=52.31;MQ0=0;QD=31.36;VQSLOD=4.3219;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1915,156,0 1 40533287 40533287 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T706G:p.C236G,CAP1:NM_001330502:exon8:c.T703G:p.C235G,CAP1:NM_001350476:exon8:c.T706G:p.C236G,CAP1:NM_001350477:exon8:c.T706G:p.C236G,CAP1:NM_001350479:exon8:c.T706G:p.C236G,CAP1:NM_001350480:exon8:c.T706G:p.C236G,CAP1:NM_001350481:exon8:c.T706G:p.C236G,CAP1:NM_001350482:exon8:c.T703G:p.C235G,CAP1:NM_001350483:exon8:c.T703G:p.C235G,CAP1:NM_001350485:exon8:c.T703G:p.C235G,CAP1:NM_006367:exon8:c.T706G:p.C236G,CAP1:NM_001350475:exon9:c.T706G:p.C236G,CAP1:NM_001350478:exon9:c.T706G:p.C236G,CAP1:NM_001350484:exon9:c.T703G:p.C235G 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.85 rs6665926 COSM4591839 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.279 0.163 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.182 P -1.98 0.002 N 1.62 0.282 T 3.78 0.008 N 0.32 0.400 -0.938 0.430 T 0.000 0.000 T . . . 1.424 0.234 12.91 0.807 0.129 0.150 0.185 N c -0.746 -0.480 1.000 0.500 0.707 0.730 0 4.88 0.630 4.552 0.602 0.136 0.221 1.000 0.715 0.263 0.230 12.535 0.553 Adenylate cyclase-associated CAP\x2c N-terminal . . 1.0000 1 1 0.9999 0.9999 1 1.0000 1 1.0000 1.0000 1 1 1 1 1 0.9999 1 hom 1190.87 40 1 40533287 . T G 1190.87 Mask AC=2;AF=1.00;AN=2;DP=40;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9916;MQ=46.85;MQ0=0;QD=29.77;VQSLOD=2.9904;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,40:40:99:1224,105,0 1 40533326 40533326 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T745G:p.Y249D,CAP1:NM_001330502:exon8:c.T742G:p.Y248D,CAP1:NM_001350476:exon8:c.T745G:p.Y249D,CAP1:NM_001350477:exon8:c.T745G:p.Y249D,CAP1:NM_001350479:exon8:c.T745G:p.Y249D,CAP1:NM_001350480:exon8:c.T745G:p.Y249D,CAP1:NM_001350481:exon8:c.T745G:p.Y249D,CAP1:NM_001350482:exon8:c.T742G:p.Y248D,CAP1:NM_001350483:exon8:c.T742G:p.Y248D,CAP1:NM_001350485:exon8:c.T742G:p.Y248D,CAP1:NM_006367:exon8:c.T745G:p.Y249D,CAP1:NM_001350475:exon9:c.T745G:p.Y249D,CAP1:NM_001350478:exon9:c.T745G:p.Y249D,CAP1:NM_001350484:exon9:c.T742G:p.Y248D 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.97 rs6665937 COSM4591850 23(upper_aerodigestive_tract) . . . . . . . . . . . 0.777 0.033 T 0.0 0.026 B 0.0 0.013 B 0.000 0.504 N 1.000 0.189 P -2.69 0.000 N 2.8 0.111 T 3.55 0.001 N 0.249 0.397 -0.959 0.393 T 0.000 0.000 T . . . 1.005 0.190 10.69 0.489 0.041 0.115 0.165 N c -0.829 -0.576 1.000 0.747 0.707 0.730 0 4.88 0.630 4.954 0.631 0.136 0.221 1.000 0.715 0.090 0.185 12.535 0.553 Adenylate cyclase-associated CAP\x2c N-terminal . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1336.06 42 1 40533326 . T G 1336.06 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=39.97;MQ0=0;QD=31.81;VQSLOD=2.3179;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1369,123,0 1 40533347 40533347 T G exonic CAP1 nonsynonymous SNV CAP1:NM_001105530:exon8:c.T766G:p.S256A,CAP1:NM_001330502:exon8:c.T763G:p.S255A,CAP1:NM_001350476:exon8:c.T766G:p.S256A,CAP1:NM_001350477:exon8:c.T766G:p.S256A,CAP1:NM_001350479:exon8:c.T766G:p.S256A,CAP1:NM_001350480:exon8:c.T766G:p.S256A,CAP1:NM_001350481:exon8:c.T766G:p.S256A,CAP1:NM_001350482:exon8:c.T763G:p.S255A,CAP1:NM_001350483:exon8:c.T763G:p.S255A,CAP1:NM_001350485:exon8:c.T763G:p.S255A,CAP1:NM_006367:exon8:c.T766G:p.S256A,CAP1:NM_001350475:exon9:c.T766G:p.S256A,CAP1:NM_001350478:exon9:c.T766G:p.S256A,CAP1:NM_001350484:exon9:c.T763G:p.S255A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 0.98 rs6665944 COSM4591858 23(upper_aerodigestive_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.001 0.428 N 1 0.090 P -2.53 0.001 N 3.07 0.663 T 2.31 0.003 N 0.283 0.353 -0.953 0.405 T 0.000 0.000 T . . . 1.056 0.195 10.97 0.310 0.017 0.152 0.186 N c -0.805 -0.489 1.000 0.747 0.707 0.730 0 4.88 0.630 4.929 0.629 0.136 0.221 1.000 0.715 0.997 0.653 8.352 0.313 Adenylate cyclase-associated CAP\x2c N-terminal . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 1496.28 45 1 40533347 . T G 1496.28 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=45.14;MQ0=0;QD=33.25;VQSLOD=3.6114;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:99:1529,132,0 1 40535490 40535490 - G exonic CAP1 frameshift insertion CAP1:NM_001105530:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001330502:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_001350476:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350477:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350479:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350480:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350481:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350482:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_001350483:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_001350485:exon9:c.935dupG:p.A313Sfs*9,CAP1:NM_006367:exon9:c.938dupG:p.A314Sfs*9,CAP1:NM_001350475:exon10:c.938dupG:p.A314Sfs*9,CAP1:NM_001350478:exon10:c.938dupG:p.A314Sfs*9,CAP1:NM_001350484:exon10:c.935dupG:p.A313Sfs*9 . . . . . . 0.0040 0.0079 0.0266 0.0108 0.0085 0.0022 0.0112 0.0045 . . . . . rs370362556 COSM5943154 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . het 838.24 131 1 40535490 . C CG 838.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.346;DP=131;DS;FS=125.979;HRun=1;HaplotypeScore=683.9167;MQ=60.22;MQ0=0;MQRankSum=0.990;QD=6.40;ReadPosRankSum=-4.512;set=variant2 GT:AD:DP:GQ:PL 0/1:57,74:131:99:877,0,1276 1 40562894 40562894 C A exonic PPT1 nonsynonymous SNV PPT1:NM_000310:exon1:c.G17T:p.C6F,PPT1:NM_001142604:exon1:c.G17T:p.C6F . . . . . . 8.381e-06 0 0 0 0 1.528e-05 0 0 . . . . . rs202241486 . . . . . . . . . . . . . 0.364 0.400 T 0.0 0.026 B 0.0 0.013 B 0.132 0.028 N 1 0.090 N 0.435 0.127 N -3.97 0.962 D -0.08 0.743 N 0.107 0.222 -0.040 0.814 T 0.711 0.901 D 0.051 0.647 D -0.996 0.032 0.016 0.750 0.106 0.049 0.105 N c -1.748 -1.886 1.0 0.983 0.442 0.072 0 -8.87 0.007 -2.251 0.013 -1.139 0.017 0.000 0.063 0.000 0.016 10.315 0.427 . . . 1.227e-05 0 0 0 0 0 2.723e-05 0 0 . . . . . . . . het 517.80 47 1 40562894 . C A 517.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.066;DP=47;Dels=0.00;FS=3.006;HRun=1;HaplotypeScore=3.0588;MQ=57.70;MQ0=0;MQRankSum=0.398;QD=11.02;ReadPosRankSum=-0.398;VQSLOD=3.3370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,20:47:99:548,0,833 1 40703244 40703244 G A exonic RLF nonsynonymous SNV RLF:NM_012421:exon8:c.G2870A:p.G957D 0.0094 . 0.014 . 0.029 0.0082 0.0228 0.0040 0.0125 0 0.0372 0.0316 0.0243 0.0123 0.023 0.0054 0.032 0.011 0.025 rs35042446 . . . . . . . . . . . . . 0.003 0.682 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1.000 0.588 D 0.975 0.246 L 1.12 0.387 T -1.55 0.375 N 0.349 0.410 -0.904 0.476 T 0.086 0.335 T . . . 4.326 0.579 24.0 0.997 0.802 0.992 0.925 D c 0.768 0.814 1.000 0.747 0.722 0.854 0 6.06 0.983 7.565 0.812 1.048 0.713 1.000 0.715 1.000 0.888 20.621 0.995 Zinc finger\x2c C2H2|Zinc finger\x2c C2H2-like . . 0.0234 0.0035 0.0165 0.0368 0 0.0365 0.0308 0.0275 0.0125 0.0241 0.0047 0.0143 0.0397 0 0.0335 0.0353 0.0356 het 1464.69 122 1 40703244 . G A 1464.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.401;DP=122;Dels=0.00;FS=1.472;HRun=0;HaplotypeScore=2.9285;MQ=59.07;MQ0=0;MQRankSum=-0.731;QD=12.01;ReadPosRankSum=-0.618;VQSLOD=5.9720;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,58:122:99:1495,0,1694 1 40773123 40773123 G C exonic COL9A2 nonsynonymous SNV COL9A2:NM_001852:exon19:c.C1003G:p.L335V 0.085 0.051 0.084 0.11 0.097 0.096 0.1077 0.0695 0.0823 0.1228 0.0948 0.1169 0.1144 0.1078 0.1 0.074 0.11 0.087 0.066 rs2228567 COSM329270 1(haematopoietic_and_lymphoid_tissue) Benign|Likely benign|Likely benign not_specified|Stickler_Syndrome\x2c_Recessive|Multiple_Epiphyseal_Dysplasia\x2c_Dominant RCV000254333.2|RCV000296221.1|RCV000350869.1 MedGen|MedGen|MedGen CN169374|CN239473|CN043640 . . . . . . 0.05 0.395 D 0.822 0.438 P 0.552 0.475 P 0.023 0.266 N 0.654 0.305 P 1.445 0.365 L -3.24 0.935 D -0.84 0.229 N 0.12 0.134 -0.627 0.637 T 0.040 0.171 T . . . 3.607 0.491 23.2 0.991 0.528 0.812 0.404 D c -0.079 -0.054 0.990 0.318 0.672 0.522 0 3.0 0.336 0.394 0.204 0.146 0.234 0.177 0.238 0.999 0.750 8.241 0.306 . . . 0.1043 0.0656 0.0819 0.0635 0.1228 0.0850 0.1200 0.0971 0.1090 0.0933 0.0642 0.0871 0.0364 0.1142 0.0814 0.1113 0.1071 het 379.96 34 1 40773123 . G C 379.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.018;DP=34;Dels=0.00;FS=8.008;HRun=0;HaplotypeScore=0.0000;MQ=58.90;MQ0=0;MQRankSum=-0.776;QD=11.18;ReadPosRankSum=0.811;VQSLOD=3.9616;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:18,16:34:99:410,0,447 1 40773149 40773149 T C exonic COL9A2 nonsynonymous SNV COL9A2:NM_001852:exon19:c.A977G:p.Q326R 0.4 0.42 0.41 0.62 0.22 0.32 0.3033 0.4145 0.5021 0.5978 0.2455 0.2210 0.2511 0.2980 0.28 0.4 0.21 0.37 0.2 rs2228564 . . Benign|Benign|Benign not_specified|Multiple_Epiphyseal_Dysplasia\x2c_Dominant|Stickler_Syndrome\x2c_Recessive RCV000248635.2|RCV000297316.1|RCV000401202.1 MedGen|MedGen|MedGen CN169374|CN043640|CN239473 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.002 0.373 N 1.000 0.090 P 0.955 0.240 L -3.36 0.941 D -0.82 0.225 N 0.044 0.024 -0.934 0.436 T 0.000 0.000 T . . . 0.192 0.112 4.598 0.769 0.113 0.031 0.080 N c -0.936 -0.705 0.999 0.387 0.632 0.406 0 5.02 0.666 0.555 0.230 0.062 0.168 0.598 0.275 0.899 0.380 9.449 0.377 . . . 0.3028 0.4106 0.4807 0.1970 0.6 0.2418 0.2152 0.2580 0.2924 0.3042 0.4130 0.4690 0.2053 0.6047 0.2380 0.2198 0.2571 het 333.36 35 1 40773149 . T C 333.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.250;DP=35;Dels=0.00;FS=10.352;HRun=1;HaplotypeScore=0.0000;MQ=58.93;MQ0=0;MQRankSum=0.417;QD=9.52;ReadPosRankSum=-0.383;VQSLOD=4.2910;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,15:35:99:363,0,618 1 40881041 40881041 C G exonic SMAP2 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 0.95 0.99 0.92 0.98 0.88 0.94 0.8978 0.9792 0.9187 0.9674 0.7856 0.8780 0.9108 0.9197 0.92 0.98 0.88 0.98 0.9 rs209606 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8953 0.9803 0.9205 0.9319 0.9688 0.7807 0.8775 0.8970 0.9199 0.8990 0.9782 0.9069 0.9205 0.9815 0.7839 0.8719 0.8686 hom 5454.14 167 1 40881041 . C G 5454.14 Mask AC=2;AF=1.00;AN=2;DP=167;DS;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.8410;MQ=59.20;MQ0=0;QD=32.66;VQSLOD=9.4216;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,167:167:99:5453,430,0 1 41204569 41204569 C T exonic NFYC synonymous SNV NFYC:NM_001308114:exon1:c.C54T:p.S18S,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_001308115:exon2:c.C54T:p.S18S,NFYC:NM_014223:exon2:c.C54T:p.S18S,NFYC:NM_001142590:exon7:c.C54T:p.S18S 0.48 0.42 0.51 0.47 0.59 0.44 0.5294 0.4347 0.4560 0.5043 0.5340 0.5770 0.5485 0.4579 0.54 0.45 0.58 0.47 0.58 rs1057925 COSM3751194;COSM3751193;COSM3751192 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5283 0.4313 0.4637 0.5345 0.5035 0.5364 0.5822 0.5376 0.4559 0.5174 0.4207 0.4928 0.5232 0.4851 0.5335 0.5735 0.5327 hom 3346.82 117 1 41204569 . C T 3346.82 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.78;MQ0=0;QD=28.61;VQSLOD=8.7180;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3346,262,0 1 41485902 41485902 C G exonic SLFNL1 nonsynonymous SNV SLFNL1:NM_144990:exon2:c.G431C:p.R144T,SLFNL1:NM_001168247:exon3:c.G431C:p.R144T,SLFNL1:NM_001300859:exon3:c.G431C:p.R144T 0.18 0.017 0.29 0.17 0.3 0.22 0.2750 0.0606 0.2914 0.1394 0.3147 0.3226 0.3027 0.2551 0.23 0.075 0.31 0.18 0.28 rs3738368 COSM3751197 1(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.946 0.554 P 0.592 0.487 P 0.045 0.236 N 0.906 0.276 P 2.045 0.562 M 0.24 0.596 T -2.3 0.511 N 0.136 0.232 -1.062 0.113 T 0.000 0.000 T . . . 0.668 0.158 8.616 0.892 0.180 0.738 0.358 D c -0.339 -0.445 1.000 0.747 0.676 0.548 0 3.77 0.423 0.181 0.166 0.059 0.165 0.006 0.172 0.232 0.224 8.589 0.327 . ENSG00000235358.1|ENSG00000171790.11|ENSG00000235358.1|ENSG00000171793.9|ENSG00000235358.1|ENSG00000235358.1 Artery_Aorta|Esophagus_Mucosa|Esophagus_Muscularis|Testis|Testis|Thyroid 0.2697 0.0557 0.2818 0.2992 0.1362 0.3148 0.3188 0.2981 0.2245 0.2280 0.0591 0.2816 0.2980 0.1173 0.3181 0.3101 0.2731 het 1570.50 140 1 41485902 . C G 1570.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.512;DP=140;Dels=0.00;FS=0.641;HRun=0;HaplotypeScore=4.7715;MQ=59.13;MQ0=0;MQRankSum=-0.560;QD=11.22;ReadPosRankSum=-0.254;VQSLOD=5.3542;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:78,62:140:99:1600,0,2051 1 41976328 41976328 T C exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon8:c.A7012G:p.T2338A,HIVEP3:NM_024503:exon9:c.A7015G:p.T2339A 0.96 0.87 0.99 1. 1. 1. 0.9890 0.8821 0.9950 1 0.9917 0.9986 1 0.9999 0.97 0.91 1. 0.94 0.066 rs9439043 COSM3749053 2(thyroid);9(large_intestine) Benign not_specified RCV000454706.1 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.392 0.132 N 1 0.090 P -0.625 0.021 N 3.44 0.054 T 0.17 0.056 N 0.014 0.004 -0.989 0.328 T 0.000 0.000 T . . . -2.816 0.002 0.001 0.135 0.003 0.003 0.018 N c -1.779 -1.664 0.992 0.328 0.615 0.372 0 2.17 0.266 0.588 0.235 -0.323 0.076 0.072 0.219 0.001 0.043 8.562 0.325 . . . 0.9926 0.8902 0.9941 0.9997 1 0.9998 0.9986 0.9938 0.9998 0.9720 0.9043 0.9868 1 1 1 0.9991 0.9918 hom 289.12 10 1 41976328 . T C 289.12 Mask AC=2;AF=1.00;AN=2;DP=10;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=52.65;MQ0=0;QD=28.91;VQSLOD=7.4298;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,10:10:27.08:322,27,0 1 41978825 41978825 C G exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon7:c.G6067C:p.A2023P,HIVEP3:NM_024503:exon8:c.G6067C:p.A2023P 0.99 0.98 1. 1. 1. 1. 0.9986 0.9843 0.9991 1 1 1 1 1 0.99 0.98 1. 0.99 0.93 rs2483689 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.037 0.244 N 1 0.090 P -2.34 0.001 N 3.64 0.043 T 2.47 0.002 N 0.032 0.035 -0.947 0.415 T 0.000 0.000 T . . . 0.016 0.095 2.743 0.140 0.003 0.022 0.063 N c -1.094 -1.002 1.000 0.517 0.563 0.310 0 2.9 0.327 4.616 0.607 0.011 0.139 1.000 0.715 0.013 0.120 11.662 0.504 . . . 0.9988 0.9833 0.9993 1 1 1 1.0000 0.9993 1.0000 0.9952 0.9834 0.9988 1 1 1 0.9999 1 hom 3089.41 90 1 41978825 . C G 3089.41 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=58.21;MQ0=0;QD=34.33;VQSLOD=8.4385;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:3122,250,0 1 41979156 41979156 A G exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon7:c.T5736C:p.A1912A,HIVEP3:NM_024503:exon8:c.T5736C:p.A1912A 0.73 0.66 0.72 0.99 0.58 0.73 0.6687 0.6587 0.7315 0.9948 0.6662 0.6078 0.6437 0.6987 0.62 0.65 0.6 0.69 0.43 rs615177 COSM426277 1(liver);1(thyroid);1(large_intestine) Benign not_specified RCV000455876.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6689 0.6561 0.7190 0.6418 0.9962 0.6592 0.6016 0.6433 0.6945 0.6579 0.6640 0.7208 0.6324 0.9951 0.6685 0.6120 0.6585 het 484.72 33 1 41979156 . A G 484.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.284;DP=33;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9895;MQ=58.15;MQ0=0;MQRankSum=0.271;QD=14.69;ReadPosRankSum=0.054;VQSLOD=4.6130;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:15,18:33:99:515,0,424 1 42046812 42046812 C T exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon3:c.G3657A:p.Q1219Q,HIVEP3:NM_024503:exon4:c.G3657A:p.Q1219Q 0.98 0.92 0.99 1. 1. 1. 0.9934 0.9329 0.9973 1 1 0.9999 0.9950 1 0.98 0.94 1. 0.99 0.8 rs2810565 . . Benign not_specified RCV000455315.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9942 0.9305 0.9971 1 1 1 0.9998 0.9974 0.9998 0.9794 0.9282 0.9988 1 1 1 0.9997 0.9949 hom 2143.53 72 1 42046812 . C T 2143.53 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9717;MQ=58.97;MQ0=0;QD=29.77;VQSLOD=8.9528;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,67:72:99:2177,183,0 1 42048745 42048745 T C exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon3:c.A1724G:p.H575R,HIVEP3:NM_024503:exon4:c.A1724G:p.H575R 0.99 0.96 1. 1. 1. 1. 0.9969 0.9666 0.9983 0.9998 1 0.9999 0.9967 0.9999 0.99 0.97 1. 0.94 0.97 rs2810566 COSM4143960 1(thyroid) . . . . . . . . . . . 0.391 0.108 T 0.0 0.026 B 0.0 0.013 B 0.002 0.382 N 1.000 0.205 P -1.955 0.002 N 3.57 0.047 T 0.12 0.056 N 0.032 0.043 -1.012 0.262 T 0.000 0.000 T . . . -1.316 0.022 0.004 0.445 0.034 0.168 0.194 N c -0.979 -0.702 0.997 0.348 0.651 0.465 0 2.77 0.315 1.793 0.382 0.069 0.176 1.000 0.715 0.996 0.625 7.909 0.288 . . . 0.9976 0.9663 0.9986 1 0.9999 1 0.9999 0.9984 0.9999 0.9907 0.9675 0.9988 1 1 1 0.9999 0.9990 hom 2483.45 83 1 42048745 . T C 2483.45 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7866;MQ=60.00;MQ0=0;QD=29.92;VQSLOD=8.2178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2516,217,0 1 42049032 42049032 G A exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon3:c.C1437T:p.S479S,HIVEP3:NM_024503:exon4:c.C1437T:p.S479S 0.95 0.81 0.99 1. 1. 1. 0.9868 0.8558 0.9942 1 1 0.9997 0.9900 0.9999 0.95 0.87 1. 0.94 0.98 rs2984694 COSM4143961 1(thyroid) Benign not_specified RCV000456097.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9896 0.8523 0.9940 0.9999 1 1 0.9996 0.9950 0.9996 0.9582 0.8535 0.9940 1 1 1 0.9996 0.9949 hom 4097.40 131 1 42049032 . G A 4097.40 Mask AC=2;AF=1.00;AN=2;DP=131;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9469;MQ=58.85;MQ0=0;QD=31.28;VQSLOD=9.5645;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,131:131:99:4097,334,0 1 42049140 42049140 C G exonic HIVEP3 synonymous SNV HIVEP3:NM_001127714:exon3:c.G1329C:p.L443L,HIVEP3:NM_024503:exon4:c.G1329C:p.L443L 0.95 0.81 0.99 1. 1. 1. 0.9868 0.8558 0.9942 1 1 0.9997 0.9901 0.9999 0.95 0.87 1. 0.94 0.98 rs2475842 COSM4143962 1(thyroid) Benign not_specified RCV000454913.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9897 0.8525 0.9940 0.9998 1 1 0.9996 0.9951 0.9996 0.9583 0.8537 0.9940 1 1 1 0.9996 0.9949 hom 3342.58 103 1 42049140 . C G 3342.58 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9734;MQ=59.10;MQ0=0;QD=32.45;VQSLOD=9.2198;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3342,271,0 1 42050366 42050366 C T exonic HIVEP3 nonsynonymous SNV HIVEP3:NM_001127714:exon3:c.G103A:p.V35I,HIVEP3:NM_024503:exon4:c.G103A:p.V35I 0.31 0.32 0.19 0.43 0.23 0.32 0.2722 0.3057 0.2128 0.4319 0.2973 0.2422 0.2998 0.3401 0.26 0.3 0.23 0.3 0.19 rs2146315 COSM1342685 1(haematopoietic_and_lymphoid_tissue);2(thyroid);1(large_intestine) . . . . . . . . . . . 0.292 0.162 T 0.0 0.026 B 0.001 0.040 B 0.318 0.041 N 1 0.090 P 0.345 0.112 N 3.41 0.056 T -0.28 0.116 N 0.017 0.075 -0.909 0.470 T 0.000 0.000 T . . . -0.559 0.052 0.157 0.792 0.122 0.034 0.084 N c -1.409 -1.423 0.981 0.301 0.563 0.310 0 -2.92 0.052 -1.015 0.037 -0.347 0.071 0.000 0.063 0.032 0.149 10.926 0.462 . . . 0.2725 0.3027 0.2155 0.3657 0.4352 0.3043 0.2337 0.2607 0.3236 0.2768 0.3066 0.2010 0.3642 0.4689 0.3063 0.2329 0.2992 het 3100.65 248 1 42050366 . C T 3100.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.991;DP=248;DS;Dels=0.00;FS=0.503;HRun=0;HaplotypeScore=7.9224;MQ=59.49;MQ0=0;MQRankSum=-1.103;QD=12.50;ReadPosRankSum=-1.761;VQSLOD=3.8029;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,121:248:99:3131,0,3294 1 42693597 42693597 A G exonic FOXJ3 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 0.8 0.76 0.89 0.85 0.79 0.72 0.8034 0.7666 0.9195 0.8265 0.8168 0.8009 0.7896 0.7384 0.78 0.77 0.79 0.78 0.81 rs343376 COSM3746966 2(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.038 0.243 N 1.000 0.200 P 0.605 0.157 N -3.71 0.954 D 0.27 0.043 N 0.076 0.089 -0.924 0.450 T 0.000 0.000 T . . . 1.326 0.223 12.40 0.920 0.207 0.034 0.084 N c -0.647 -0.416 1.000 0.489 0.737 0.974 0 3.81 0.429 3.913 0.559 -0.326 0.075 0.999 0.424 0.989 0.536 9.486 0.379 Fork head domain|Winged helix-turn-helix DNA-binding domain . . 0.8080 0.7627 0.9109 0.8502 0.8253 0.8163 0.7944 0.8121 0.7396 0.7893 0.7628 0.8995 0.8775 0.8284 0.8227 0.7846 0.7908 hom 4464.58 160 1 42693597 . A G 4464.58 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.645;DP=160;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3095;MQ=57.99;MQ0=0;MQRankSum=1.624;QD=27.90;ReadPosRankSum=0.346;VQSLOD=6.1818;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,159:160:99:4439,324,0 1 42880516 42880516 T C exonic RIMKLA synonymous SNV RIMKLA:NM_173642:exon5:c.T1047C:p.S349S 0.49 0.52 0.52 0.34 0.64 0.42 0.5800 0.5336 0.5578 0.3624 0.6620 0.6378 0.6200 0.4703 0.6 0.54 0.64 0.53 0.59 rs1055055 COSM146486 1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5813 0.5354 0.5540 0.6983 0.3498 0.6719 0.6316 0.6152 0.4719 0.6030 0.5507 0.5430 0.6921 0.3240 0.6725 0.6489 0.6020 het 1937.46 138 1 42880516 . T C 1937.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.815;DP=138;Dels=0.00;FS=0.657;HRun=0;HaplotypeScore=1.7329;MQ=59.83;MQ0=0;MQRankSum=-0.285;QD=14.04;ReadPosRankSum=1.563;VQSLOD=6.2492;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,71:138:99:1967,0,1833 1 42898843 42898843 A G exonic ZMYND12 nonsynonymous SNV ZMYND12:NM_001146192:exon6:c.T616C:p.F206L,ZMYND12:NM_032257:exon7:c.T946C:p.F316L 0.65 0.6 0.6 0.65 0.66 0.74 0.6636 0.5921 0.5996 0.6646 0.6710 0.6665 0.6542 0.7389 0.65 0.59 0.67 0.56 0.67 rs1034268 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.090 P -2.75 0.000 N -0.67 0.725 T 2.99 0.001 N 0.143 0.168 -0.916 0.461 T 0.000 0.000 T . . . 1.615 0.256 13.93 0.654 0.076 0.043 0.097 N c -0.912 -0.567 0.590 0.216 0.554 0.283 0 4.8 0.610 2.292 0.430 0.138 0.222 1.000 0.715 0.997 0.653 7.992 0.292 Tetratricopeptide-like helical domain ENSG00000164008.9|ENSG00000177868.7|ENSG00000171960.6 Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Testis 0.6631 0.5896 0.6009 0.6806 0.6677 0.6634 0.6688 0.6447 0.7405 0.6487 0.5876 0.5947 0.6358 0.6894 0.6720 0.6762 0.6691 hom 7137.91 222 1 42898843 . A G 7137.91 Mask AC=2;AF=1.00;AN=2;DP=222;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1526;MQ=59.14;MQ0=0;QD=32.15;VQSLOD=9.4866;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,222:222:99:7137,545,0 1 42915727 42915727 C G exonic ZMYND12 synonymous SNV ZMYND12:NM_032257:exon2:c.G114C:p.G38G 0.28 0.18 0.16 0.44 0.19 0.46 0.2358 0.1819 0.1278 0.4054 0.1705 0.1974 0.2390 0.4380 0.19 0.19 0.2 0.28 0.15 rs12047095 COSM3751200 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2325 0.1806 0.1358 0.1856 0.4113 0.1682 0.2021 0.2131 0.4379 0.1992 0.1842 0.1376 0.1788 0.4321 0.1724 0.1920 0.2118 het 2089.84 177 1 42915727 . C G 2089.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.099;DP=177;Dels=0.00;FS=0.587;HRun=0;HaplotypeScore=3.2293;MQ=59.66;MQ0=0;MQRankSum=0.558;QD=11.81;ReadPosRankSum=-0.773;VQSLOD=6.0644;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,81:177:99:2120,0,2595 1 43042703 43042703 C T exonic CCDC30 synonymous SNV CCDC30:NM_001080850:exon7:c.C868T:p.L290L 0.29 0.18 0.16 0.46 0.19 0.45 0.2373 0.1837 0.1268 0.4208 0.1399 0.2009 0.2404 0.4368 0.19 0.18 0.2 0.27 0.15 rs12049046 COSM4416594;COSM3751201 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2291 0.1790 0.1337 0.1864 0.4239 0.1379 0.2014 0.2085 0.4338 0.1954 0.1842 0.1343 0.1854 0.4428 0.1433 0.1905 0.2045 het 845.36 60 1 43042703 . C T 845.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.675;DP=60;Dels=0.00;FS=7.892;HRun=1;HaplotypeScore=2.7855;MQ=58.96;MQ0=0;MQRankSum=0.862;QD=14.09;ReadPosRankSum=-0.267;VQSLOD=5.0236;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,33:60:99:875,0,642 1 43047057 43047057 A G exonic CCDC30 synonymous SNV CCDC30:NM_001080850:exon8:c.A1092G:p.E364E 0.28 0.17 0.15 0.44 0.19 0.45 0.2318 0.1777 0.1220 0.3996 0.1390 0.1968 0.2351 0.4336 0.19 0.18 0.2 0.24 0.14 rs12037518 COSM4419053;COSM4419052 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2266 0.1743 0.1291 0.1881 0.4052 0.1377 0.2022 0.2062 0.4368 0.1925 0.1789 0.1265 0.1854 0.4225 0.1429 0.1906 0.1994 het 1529.04 111 1 43047057 . A G 1529.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.468;DP=111;Dels=0.00;FS=0.714;HRun=0;HaplotypeScore=0.9979;MQ=58.78;MQ0=0;MQRankSum=0.416;QD=13.78;ReadPosRankSum=1.414;VQSLOD=5.8353;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,58:111:99:1559,0,1310 1 43119661 43119661 C A exonic CCDC30 nonsynonymous SNV CCDC30:NM_001080850:exon16:c.C2314A:p.H772N 0.075 0.19 0.039 0.001 0.033 0.07 0.0449 0.1626 0.0299 0.0015 0.0219 0.0344 0.0376 0.0560 0.077 0.15 0.037 0.065 0.016 rs16829829 . . . . . . . . . . . . . 0.015 0.524 D 0.007 0.131 B 0.005 0.104 B 0.880 0.088 N 1 0.090 P 1.3 0.327 L 0.86 0.468 T -0.56 0.253 N 0.023 0.047 -1.064 0.108 T 0.000 0.002 T . . . 0.536 0.145 7.698 0.786 0.119 0.055 0.112 N c -0.888 -0.906 0.000 0.053 0.554 0.246 0 1.38 0.212 -0.129 0.104 0.852 0.362 0.000 0.063 0.407 0.255 4.642 0.119 . . . 0.0424 0.1669 0.0301 0.0537 0.0018 0.0216 0.0351 0.0427 0.0547 0.0655 0.1602 0.0203 0.0397 0.0012 0.0252 0.0317 0.0378 het 494.95 49 1 43119661 . C A 494.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.000;DP=49;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4923;MQ=59.24;MQ0=0;MQRankSum=-0.980;QD=10.10;ReadPosRankSum=0.333;VQSLOD=6.2082;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,21:49:99:525,0,809 1 43201614 43201614 C T exonic CLDN19 nonsynonymous SNV CLDN19:NM_001185117:exon3:c.G476A:p.R159Q 0.052 0.1 0.039 0.001 0.04 0.06 0.0772 0.1241 0.1033 0.0019 0.0790 0.0794 0.0720 0.0655 0.058 0.09 0.041 0.065 . rs9660973 COSM4783690;COSM3751202 1(large_intestine) Likely benign Renal_Hypomagnesemia\x2c_Recessive RCV000336220.1 MedGen CN239444 . . . . . . 0.164 0.233 T 0.003 0.102 B 0.001 0.040 B . . . 0.985 0.402 D . . . -2.15 0.865 D -0.62 0.183 N . . -0.901 0.479 T 0.019 0.078 T . . . 1.536 0.247 13.51 0.950 0.254 0.045 0.100 N c -1.525 -1.674 1.000 0.747 0.696 0.567 0 -8.62 0.008 -2.394 0.011 -1.740 0.007 0.001 0.137 0.047 0.162 2.721 0.048 . ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0426 0.0966 0.0368 0.0614 0.0018 0.0263 0.0414 0.0513 0.0551 0.0496 0.0943 0.0263 0.0464 0.0012 0.0326 0.0349 0.0380 het 182.77 10 1 43201614 . C T 182.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.580;DP=10;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.546;QD=18.28;ReadPosRankSum=1.386;VQSLOD=12.2915;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:3,7:10:45.39:213,0,45 1 43212926 43212926 G A exonic P3H1 nonsynonymous SNV P3H1:NM_001146289:exon14:c.C2072T:p.A691V,P3H1:NM_001243246:exon14:c.C2072T:p.A691V 0.062 0.14 0.039 0.001 0.04 0.06 0.0473 0.1347 0.0370 0.0016 0.0281 0.0414 0.0465 0.0553 0.074 0.13 0.044 0.098 0.033 rs67014447 COSM3751203 1(large_intestine) Benign not_specified RCV000425880.1 MedGen CN169374 . . . . . . 1.0 0.912 T . . . . . . . . . 1 0.090 N . . . 1.2 0.374 T 1.24 0.102 N 0.025 0.028 -1.031 0.201 T 0.001 0.003 T . . . 0.773 0.168 9.299 0.697 0.088 0.010 0.038 N c -0.887 -1.129 1.000 0.747 0.778 0.996 0 . . -0.462 0.067 0.000 0.135 0.010 0.182 0.016 0.126 . . . ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0455 0.1363 0.0380 0.0615 0.0019 0.0264 0.0416 0.0526 0.0549 0.0588 0.1260 0.0286 0.0467 0.0012 0.0323 0.0354 0.0399 het 1651.13 120 1 43212926 . G A 1651.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.837;DP=120;Dels=0.00;FS=6.984;HRun=0;HaplotypeScore=5.2998;MQ=59.81;MQ0=0;MQRankSum=-1.231;QD=13.76;ReadPosRankSum=0.896;VQSLOD=3.8705;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:58,62:120:99:1681,0,1568 1 43223489 43223489 C T exonic P3H1 nonsynonymous SNV P3H1:NM_001146289:exon5:c.G1045A:p.G349R,P3H1:NM_001243246:exon5:c.G1045A:p.G349R,P3H1:NM_022356:exon5:c.G1045A:p.G349R 0.055 0.11 0.039 0.001 0.039 0.061 0.0448 0.1086 0.0364 0.0016 0.0281 0.0410 0.0419 0.0555 0.066 0.11 0.043 0.076 0.033 rs6700677 COSM1342736;COSM1342737 2(soft_tissue);1(large_intestine) Benign not_specified RCV000443398.1 MedGen CN169374 . . . . . . 0.002 0.721 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1 0.810 D 3.235 0.898 M -1.66 0.827 D -4.54 0.810 D 0.338 0.539 -0.536 0.673 T 0.067 0.276 T . . . 6.532 0.900 31 0.999 0.997 0.991 0.908 D c 0.841 0.781 1.000 0.747 0.719 0.830 0 5.84 0.934 7.568 0.814 0.935 0.490 1.000 0.715 0.762 0.325 17.643 0.880 Tetratricopeptide-like helical domain ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0436 0.1100 0.0371 0.0614 0.0019 0.0265 0.0413 0.0512 0.0552 0.0516 0.1012 0.0263 0.0464 0.0012 0.0323 0.0351 0.0387 het 3104.18 245 1 43223489 . C T 3104.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.181;DP=245;DS;Dels=0.00;FS=1.600;HRun=0;HaplotypeScore=2.5598;MQ=59.48;MQ0=0;MQRankSum=-1.291;QD=12.67;ReadPosRankSum=0.011;VQSLOD=6.2099;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:131,114:245:99:3134,0,3674 1 43232504 43232504 C A exonic P3H1 nonsynonymous SNV P3H1:NM_001146289:exon1:c.G139T:p.A47S,P3H1:NM_001243246:exon1:c.G139T:p.A47S,P3H1:NM_022356:exon1:c.G139T:p.A47S 0.04 0.079 0.022 0.001 0.026 0.053 0.0327 0.0842 0.0234 0.0018 0.0196 0.0294 0.0287 0.0465 0.042 0.068 0.03 . 0.016 rs55716016 . . Benign not_specified RCV000432456.1 MedGen CN169374 . . . . . . 0.387 0.117 T 0.047 0.206 B 0.02 0.179 B 0.023 0.266 N 0.983 0.249 N 1.115 0.288 L 1.22 0.370 T -0.34 0.138 N 0.05 0.198 -1.056 0.127 T 0.004 0.013 T . . . 2.784 0.396 21.3 0.942 0.239 0.186 0.201 N c -0.485 -0.312 1.000 0.747 0.442 0.072 0 3.23 0.360 0.206 0.170 -0.018 0.130 0.994 0.380 0.991 0.552 9.280 0.367 . ENSG00000117385.11|ENSG00000164007.6 Cells_Transformed_fibroblasts|Nerve_Tibial 0.0309 0.0794 0.0219 0.0389 0.0018 0.0176 0.0293 0.0350 0.0448 0.0372 0.0725 0.0143 0.0265 0.0012 0.0221 0.0263 0.0275 het 777.96 57 1 43232504 . C A 777.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.752;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.7006;MQ=59.27;MQ0=0;MQRankSum=-0.850;QD=13.65;ReadPosRankSum=-1.613;VQSLOD=4.7903;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,30:57:99:808,0,712 1 43296173 43296173 C T exonic ERMAP synonymous SNV ERMAP:NM_018538:exon2:c.C54T:p.L18L,ERMAP:NM_001017922:exon3:c.C54T:p.L18L 0.15 0.092 0.26 0.0099 0.25 0.17 0.2226 0.1126 0.2738 0.0168 0.3550 0.2550 0.2291 0.1797 0.2 0.12 0.24 0.065 0.26 rs33950227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2253 0.1100 0.2698 0.1777 0.0162 0.3543 0.2520 0.2274 0.1760 0.2193 0.1103 0.2608 0.1633 0.0099 0.3594 0.2684 0.2679 het 1813.93 163 1 43296173 . C T 1813.93 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.727;DP=163;Dels=0.00;FS=3.637;HRun=1;HaplotypeScore=0.9983;MQ=59.73;MQ0=0;MQRankSum=0.566;QD=11.13;ReadPosRankSum=0.690;VQSLOD=6.2213;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:86,77:163:99:1844,0,2131 1 43296195 43296195 C T exonic ERMAP nonsynonymous SNV ERMAP:NM_018538:exon2:c.C76T:p.H26Y,ERMAP:NM_001017922:exon3:c.C76T:p.H26Y 0.14 0.023 0.27 0.0099 0.3 0.19 0.2414 0.0597 0.2886 0.0170 0.3735 0.2876 0.2467 0.2007 0.21 0.07 0.28 0.076 0.26 rs33953680 . . . . . . . . . . . . . 0.638 0.050 T 0.985 0.592 D 0.657 0.509 P 0.247 0.036 N 1 0.090 P 0.55 0.145 N 0.9 0.453 T -1.04 0.273 N 0.041 0.041 -1.031 0.200 T 0.000 0.000 T . . . -1.398 0.019 0.003 0.541 0.050 0.033 0.082 N c -1.083 -1.126 0.984 0.305 0.615 0.372 0 0.706 0.172 -0.177 0.097 -0.717 0.036 0.000 0.063 0.000 0.016 8.39 0.315 Immunoglobulin-like domain ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000164008.9|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000164008.9|ENSG00000177868.7|ENSG00000228452.1|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7|ENSG00000177868.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Whole_Blood 0.2459 0.0567 0.2870 0.2030 0.0163 0.3747 0.2863 0.2536 0.1964 0.2218 0.0557 0.2758 0.1821 0.0105 0.3778 0.2982 0.2914 het 1540.22 141 1 43296195 . C T 1540.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.565;DP=141;Dels=0.00;FS=0.677;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.013;QD=10.92;ReadPosRankSum=-0.865;VQSLOD=5.9588;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:75,66:141:99:1570,0,2115 1 43618596 43618596 G A exonic FAM183A synonymous SNV FAM183A:NM_001101376:exon3:c.G291A:p.E97E 0.12 0.058 0.15 . 0.28 0.14 0.2376 0.0823 0.1329 0.0006 0.2822 0.3006 0.2493 0.2231 0.19 0.069 0.25 0.14 . rs12074551 COSM4143978;COSM4143977 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2014 0.0670 0.1093 0.2913 0.0004 0.2520 0.2621 0.2169 0.1940 0.1800 0.0689 0.1100 0.2682 0.0006 0.2436 0.2486 0.2235 het 398.24 37 1 43618596 . G A 398.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.817;DP=37;Dels=0.00;FS=4.357;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.751;QD=10.76;ReadPosRankSum=-0.628;VQSLOD=5.6334;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,16:37:99:428,0,576 1 43632536 43632536 C T exonic EBNA1BP2 nonsynonymous SNV EBNA1BP2:NM_006824:exon7:c.G668A:p.R223H,EBNA1BP2:NM_001159936:exon8:c.G833A:p.R278H 0.14 0.13 0.15 . 0.29 0.14 0.2105 0.1163 0.0998 0.0005 0.2565 0.2707 0.2225 0.1955 0.21 0.12 0.26 0.17 0.27 rs7163 . . . . . . . . . . . . . 0.122 0.315 T 0.864 0.455 P 0.357 0.413 B 0.256 0.037 N 1 0.090 P 0.625 0.159 N 0.94 0.437 T -0.76 0.212 N 0.037 0.061 -1.067 0.101 T 0.000 0.000 T . . . 1.028 0.192 10.82 0.970 0.315 0.241 0.221 N c -0.958 -1.090 0.000 0.053 0.707 0.730 0 -1.47 0.083 0.151 0.160 -1.161 0.017 0.000 0.063 0.000 0.016 1.375 0.021 . ENSG00000186973.6|ENSG00000186973.6|ENSG00000243710.3 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Testis 0.2066 0.1138 0.1099 0.2921 0.0004 0.2519 0.2664 0.2224 0.1928 0.1946 0.1150 0.1184 0.2682 0.0006 0.2435 0.2508 0.2316 het 2118.44 159 1 43632536 . C T 2118.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.762;DP=159;Dels=0.00;FS=2.070;HRun=0;HaplotypeScore=9.6164;MQ=59.05;MQ0=0;MQRankSum=0.269;QD=13.32;ReadPosRankSum=0.087;VQSLOD=4.2575;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,87:159:99:2148,0,1673 1 43636484 43636484 C G exonic EBNA1BP2 synonymous SNV EBNA1BP2:NM_006824:exon4:c.G390C:p.T130T,EBNA1BP2:NM_001159936:exon5:c.G555C:p.T185T 0.14 0.13 0.15 . 0.29 0.14 0.2106 0.1170 0.0998 0.0005 0.2565 0.2708 0.2225 0.1956 0.21 0.12 0.26 0.17 0.27 rs1049276 COSM5021272;COSM5021271 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2057 0.1125 0.1045 0.2921 0.0003 0.2515 0.2645 0.2196 0.1921 0.1950 0.1162 0.1181 0.2682 0.0006 0.2451 0.2506 0.2312 het 4086.72 250 1 43636484 . C G 4086.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.316;DP=250;DS;Dels=0.00;FS=3.621;HRun=1;HaplotypeScore=5.5380;MQ=59.18;MQ0=0;MQRankSum=-1.072;QD=16.35;ReadPosRankSum=0.137;VQSLOD=3.6839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3430,0,3492 1 43638457 43638457 T A exonic CFAP57 synonymous SNV CFAP57:NM_001167965:exon2:c.T33A:p.V11V,CFAP57:NM_001195831:exon2:c.T33A:p.V11V,CFAP57:NM_152498:exon2:c.T33A:p.V11V 0.14 0.13 0.15 . 0.29 0.15 0.2109 0.1177 0.1000 0.0005 0.2564 0.2709 0.2225 0.1965 0.21 0.12 0.26 0.17 0.2 rs1782387 COSM5618806 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2081 0.1155 0.1122 0.2945 0.0003 0.2522 0.2674 0.2241 0.1975 0.1949 0.1165 0.1196 0.2667 0.0006 0.2453 0.2505 0.2279 het 818.85 75 1 43638457 . T A 818.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.136;DP=75;Dels=0.00;FS=0.905;HRun=0;HaplotypeScore=1.9321;MQ=58.88;MQ0=0;MQRankSum=0.759;QD=10.92;ReadPosRankSum=-0.653;VQSLOD=6.3086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,35:75:99:849,0,1090 1 43649508 43649508 A G exonic CFAP57 nonsynonymous SNV CFAP57:NM_001167965:exon4:c.A721G:p.N241D,CFAP57:NM_001195831:exon4:c.A721G:p.N241D,CFAP57:NM_152498:exon4:c.A721G:p.N241D 0.52 0.84 0.51 0.32 0.41 0.41 0.4499 0.7761 0.5360 0.2788 0.4531 0.4064 0.4680 0.4471 0.52 0.76 0.4 0.62 0.41 rs663824 COSM3751212 4(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.453 0.089 T 0.0 0.026 B 0.0 0.040 B 0.268 0.038 N 1 0.090 P -0.895 0.014 N 3.31 0.063 T 0.71 0.030 N 0.04 0.041 -1.047 0.152 T 0.000 0.000 T . . . -2.100 0.007 0.001 0.450 0.035 0.112 0.163 N c -1.890 -1.858 0.000 0.029 0.447 0.083 0 -3.6 0.043 0.635 0.241 -1.119 0.018 0.000 0.063 0.001 0.043 2.883 0.053 WD40/YVTN repeat-like-containing domain ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3|ENSG00000243710.3 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis 0.4451 0.7818 0.5198 0.4517 0.2780 0.4520 0.4005 0.4328 0.4464 0.5023 0.7768 0.5120 0.4536 0.2866 0.4407 0.3867 0.4150 het 2394.77 238 1 43649508 . A G 2394.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.884;DP=238;DS;Dels=0.00;FS=4.802;HRun=0;HaplotypeScore=7.8911;MQ=59.55;MQ0=0;MQRankSum=-1.702;QD=10.06;ReadPosRankSum=0.024;VQSLOD=3.4667;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:140,98:238:99:2425,0,4038 1 43664218 43664218 C T exonic CFAP57 synonymous SNV CFAP57:NM_001167965:exon8:c.C1329T:p.H443H,CFAP57:NM_001195831:exon8:c.C1329T:p.H443H,CFAP57:NM_152498:exon8:c.C1329T:p.H443H 0.2 0.28 0.21 0.002 0.32 0.17 0.2530 0.2537 0.1946 0.0007 0.3059 0.2968 0.2704 0.2262 0.27 0.25 0.29 0.23 0.3 rs603123 COSM3751213 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2504 0.2527 0.1995 0.3021 0.0005 0.3015 0.2945 0.2632 0.2290 0.2566 0.2544 0.2160 0.2947 0.0012 0.2941 0.2776 0.2658 het 1286.15 99 1 43664218 . C T 1286.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.397;DP=99;Dels=0.00;FS=0.751;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.844;QD=12.99;ReadPosRankSum=-0.298;VQSLOD=6.2261;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:51,48:99:99:1316,0,1348 1 43675467 43675467 G A exonic CFAP57 synonymous SNV CFAP57:NM_001167965:exon11:c.G1809A:p.S603S,CFAP57:NM_001195831:exon11:c.G1809A:p.S603S,CFAP57:NM_152498:exon11:c.G1809A:p.S603S 0.69 0.54 0.68 0.68 0.89 0.73 0.7914 0.5675 0.5902 0.7230 0.8183 0.8774 0.7896 0.7506 0.77 0.57 0.88 0.66 0.84 rs2453412 COSM5438325 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7896 0.5617 0.6140 0.9164 0.7221 0.8180 0.8762 0.8218 0.7518 0.7614 0.5519 0.6348 0.8974 0.7125 0.8206 0.8745 0.8255 hom 3902.26 128 1 43675467 . G A 3902.26 Mask AC=2;AF=1.00;AN=2;DP=128;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.1949;MQ=59.16;MQ0=0;QD=30.49;VQSLOD=7.7157;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,128:128:99:3902,307,0 1 43784956 43784956 A G exonic TIE1 synonymous SNV TIE1:NM_001253357:exon18:c.A2838G:p.L946L,TIE1:NM_005424:exon18:c.A2973G:p.L991L 0.23 0.18 0.36 0.15 0.38 0.11 0.3112 0.1949 0.2954 0.1513 0.3411 0.3834 0.3436 0.1733 0.33 0.21 0.39 0.32 0.39 rs1199039 COSM4143981 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3163 0.1936 0.3104 0.4247 0.1453 0.3389 0.3850 0.3494 0.1735 0.3011 0.1964 0.3122 0.4106 0.1326 0.3217 0.3715 0.3172 hom 4550.83 143 1 43784956 . A G 4550.83 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.293;DP=143;Dels=0.00;FS=3.301;HRun=1;HaplotypeScore=1.6006;MQ=59.08;MQ0=0;MQRankSum=-0.488;QD=31.82;ReadPosRankSum=-1.513;VQSLOD=4.2927;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,142:143:99:4514,313,0 1 43825644 43825644 T C exonic CDC20 synonymous SNV CDC20:NM_001255:exon5:c.T432C:p.Y144Y 0.23 0.24 0.37 0.11 0.37 0.091 0.3069 0.2682 0.2878 0.0981 0.3326 0.3782 0.3337 0.1539 0.35 0.28 0.38 0.3 0.39 rs839763 COSM3997534 1(bone);1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3103 0.2675 0.3047 0.4141 0.0928 0.3314 0.3796 0.3463 0.1531 0.3133 0.2649 0.3165 0.4133 0.0827 0.3120 0.3644 0.3136 hom 8663.18 241 1 43825644 . T C 8663.18 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.0069;MQ=59.39;MQ0=0;QD=35.95;VQSLOD=7.6720;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:8662,692,0 1 43886494 43886494 C T exonic SZT2 nonsynonymous SNV SZT2:NM_015284:exon10:c.C1336T:p.P446S 0.2 0.1 0.38 0.082 0.42 0.093 0.3191 0.1332 0.3049 0.0706 0.4026 0.4135 0.3515 0.1548 0.34 0.15 0.42 0.26 . rs2782643 COSM4143983 1(thyroid) Benign not_specified RCV000247399.1 MedGen CN169374 . . . . . . 0.192 0.210 T 0.005 0.119 B 0.006 0.112 B . . . 0.995 0.233 P 0.145 0.088 N . . . -1.82 0.427 N 0.096 0.097 . . . . . . . . . 3.387 0.465 23.0 0.998 0.880 0.747 0.363 D n 1.283 0.048 0.990 0.319 0.707 0.730 0 4.56 0.555 1.446 0.345 0.032 0.150 0.768 0.291 0.998 0.697 10.643 0.446 . ENSG00000159479.12|ENSG00000066056.9|ENSG00000178922.12|ENSG00000159479.12|ENSG00000178922.12|ENSG00000229431.1|ENSG00000178922.12|ENSG00000229431.1|ENSG00000066056.9|ENSG00000066056.9|ENSG00000178922.12|ENSG00000229431.1|ENSG00000159479.12|ENSG00000066056.9|ENSG00000159479.12|ENSG00000229431.1|ENSG00000229431.1|ENSG00000159479.12|ENSG00000159479.12|ENSG00000178922.12|ENSG00000229431.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid|Whole_Blood 0.3217 0.1306 0.3219 0.4365 0.0661 0.4010 0.4146 0.3683 0.1537 0.2996 0.1354 0.3294 0.4238 0.0543 0.3782 0.3966 0.3429 hom 6891.32 211 1 43886494 . C T 6891.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=0.090;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9402;MQ=59.09;MQ0=0;MQRankSum=0.747;QD=32.66;ReadPosRankSum=1.338;VQSLOD=9.0168;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,210:211:99:6854,530,0 1 43906896 43906896 A G exonic SZT2 synonymous SNV SZT2:NM_015284:exon52:c.A7185G:p.E2395E 0.2 0.088 0.38 0.082 0.42 0.095 0.3184 0.1210 0.3082 0.0717 0.4029 0.4136 0.3562 0.1560 0.32 0.13 0.41 0.29 0.36 rs2027130 COSM3751218;COSM3751219;COSM3751217 1(large_intestine) Benign not_specified RCV000253624.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3249 0.1151 0.3237 0.4350 0.0664 0.3979 0.4147 0.3699 0.1539 0.2956 0.1217 0.3329 0.4238 0.0543 0.3782 0.3964 0.3378 hom 6724.83 199 1 43906896 . A G 6724.83 Mask AC=2;AF=1.00;AN=2;DP=199;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4481;MQ=59.49;MQ0=0;QD=33.79;VQSLOD=8.6695;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,199:199:99:6724,530,0 1 43917637 43917637 G A exonic HYI 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,HYI:NM_001330526:exon5:c.C549T:p.D183D 0.22 0.19 0.39 0.078 0.42 0.097 0.3291 0.2207 0.3139 0.0694 0.4031 0.4148 0.3666 0.1602 0.35 0.23 0.41 0.3 0.37 rs2251802 COSM3751221;COSM4785149;COSM3751220 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3319 0.2196 0.3293 0.4339 0.0644 0.3977 0.4147 0.3737 0.1550 0.3242 0.2194 0.3389 0.4238 0.0544 0.3782 0.3979 0.3432 hom 1601.82 52 1 43917637 . G A 1601.82 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;QD=30.80;VQSLOD=9.0712;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1635,135,0 1 44035352 44035352 C T exonic PTPRF synonymous SNV PTPRF:NM_001329139:exon6:c.C471T:p.A157A,PTPRF:NM_001329140:exon6:c.C471T:p.A157A,PTPRF:NM_002840:exon6:c.C471T:p.A157A,PTPRF:NM_130440:exon6:c.C471T:p.A157A,PTPRF:NM_001329137:exon7:c.C471T:p.A157A,PTPRF:NM_001329138:exon7:c.C471T:p.A157A 0.22 0.036 0.24 0.29 0.31 0.3 0.2820 0.0738 0.2666 0.3400 0.3424 0.3078 0.2742 0.2660 0.23 0.084 0.31 0.12 0.26 rs1065771 COSM3751223 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2868 0.0678 0.2625 0.2738 0.3423 0.3464 0.3097 0.2866 0.2688 0.2553 0.0671 0.2542 0.2715 0.3550 0.3312 0.3335 0.2971 het 1522.18 99 1 44035352 . C T 1522.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.150;DP=99;Dels=0.00;FS=0.761;HRun=0;HaplotypeScore=1.9883;MQ=59.77;MQ0=0;MQRankSum=-0.039;QD=15.38;ReadPosRankSum=-0.361;VQSLOD=6.5618;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,52:99:99:1552,0,1213 1 44058265 44058265 C A exonic PTPRF synonymous SNV PTPRF:NM_001329139:exon11:c.C1806A:p.A602A,PTPRF:NM_001329140:exon11:c.C1806A:p.A602A,PTPRF:NM_002840:exon11:c.C1806A:p.A602A,PTPRF:NM_130440:exon11:c.C1806A:p.A602A,PTPRF:NM_001329137:exon13:c.C1824A:p.A608A,PTPRF:NM_001329138:exon14:c.C1836A:p.A612A 0.45 0.46 0.32 0.56 0.4 0.46 0.4199 0.4642 0.3223 0.5746 0.4258 0.4044 0.4052 0.4424 0.42 0.46 0.4 0.36 0.43 rs3828151 COSM3751224;COSM3751225 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4131 0.4585 0.3233 0.3589 0.5835 0.4362 0.4049 0.3957 0.4231 0.4357 0.4585 0.3337 0.3411 0.5933 0.4138 0.4185 0.4296 het 1213.68 75 1 44058265 . C A 1213.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.429;DP=75;Dels=0.00;FS=1.018;HRun=0;HaplotypeScore=1.8653;MQ=60.00;MQ0=0;MQRankSum=0.319;QD=16.18;ReadPosRankSum=0.178;VQSLOD=6.3688;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,45:75:99:1244,0,763 1 44071221 44071221 G A exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon16:c.G2499A:p.V833V,PTPRF:NM_001329139:exon17:c.G2526A:p.V842V,PTPRF:NM_130440:exon18:c.G3384A:p.V1128V,PTPRF:NM_001329137:exon19:c.G2544A:p.V848V,PTPRF:NM_002840:exon19:c.G3411A:p.V1137V,PTPRF:NM_001329138:exon20:c.G2556A:p.V852V 0.6 0.43 0.54 0.76 0.74 0.58 0.6949 0.4688 0.5015 0.7793 0.7870 0.7712 0.7029 0.5835 0.67 0.47 0.77 0.54 0.7 rs631248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6935 0.4554 0.5133 0.7147 0.7830 0.7944 0.7738 0.7036 0.5859 0.6831 0.4612 0.5431 0.68 0.7877 0.7756 0.7832 0.7418 hom 1875.37 63 1 44071221 . G A 1875.37 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.26;MQ0=0;QD=29.77;VQSLOD=8.3637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1908,162,0 1 44072018 44072018 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon17:c.C2679T:p.T893T,PTPRF:NM_001329139:exon18:c.C2706T:p.T902T,PTPRF:NM_130440:exon19:c.C3564T:p.T1188T,PTPRF:NM_001329137:exon20:c.C2724T:p.T908T,PTPRF:NM_002840:exon20:c.C3591T:p.T1197T,PTPRF:NM_001329138:exon21:c.C2736T:p.T912T 0.28 0.037 0.27 0.47 0.36 0.33 0.3235 0.0817 0.2875 0.4829 0.3924 0.3490 0.3095 0.2882 0.26 0.095 0.35 0.16 0.3 rs1065772 COSM3751227;COSM3751226 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3292 0.0743 0.2826 0.3358 0.4919 0.3953 0.3494 0.3336 0.2920 0.2939 0.0745 0.2816 0.3167 0.4969 0.3818 0.3764 0.3436 het 2672.13 250 1 44072018 . C T 2672.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.677;DP=250;DS;Dels=0.00;FS=4.498;HRun=3;HaplotypeScore=6.5958;MQ=59.39;MQ0=0;MQRankSum=-0.959;QD=10.69;ReadPosRankSum=-0.374;VQSLOD=4.3686;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:145,105:250:99:2702,0,3989 1 44072066 44072066 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon17:c.C2727T:p.P909P,PTPRF:NM_001329139:exon18:c.C2754T:p.P918P,PTPRF:NM_130440:exon19:c.C3612T:p.P1204P,PTPRF:NM_001329137:exon20:c.C2772T:p.P924P,PTPRF:NM_002840:exon20:c.C3639T:p.P1213P,PTPRF:NM_001329138:exon21:c.C2784T:p.P928P 0.28 0.03 0.28 0.47 0.36 0.34 0.3300 0.0782 0.2955 0.4824 0.3837 0.3587 0.3117 0.2971 0.27 0.094 0.36 0.16 0.33 rs10890266 COSM3751228;COSM3751229 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3360 0.0710 0.2940 0.3374 0.4917 0.3861 0.3602 0.341 0.3013 0.2977 0.0715 0.2931 0.3179 0.4988 0.3685 0.3872 0.3520 het 2508.20 244 1 44072066 . C T 2508.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.657;DP=244;DS;Dels=0.00;FS=2.238;HRun=0;HaplotypeScore=11.3624;MQ=59.41;MQ0=0;MQRankSum=-0.614;QD=10.28;ReadPosRankSum=0.277;VQSLOD=3.4700;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:140,102:244:99:2538,0,3680 1 44083507 44083507 T C exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon22:c.T3384C:p.G1128G,PTPRF:NM_001329139:exon24:c.T3444C:p.G1148G,PTPRF:NM_130440:exon24:c.T4269C:p.G1423G,PTPRF:NM_002840:exon25:c.T4296C:p.G1432G,PTPRF:NM_001329137:exon26:c.T3462C:p.G1154G,PTPRF:NM_001329138:exon28:c.T3486C:p.G1162G 0.74 0.95 0.58 0.76 0.72 0.56 0.7188 0.9244 0.5132 0.7858 0.7432 0.7493 0.7135 0.5655 0.81 0.92 0.75 0.74 0.54 rs641365 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7084 0.9252 0.5264 0.7099 0.7911 0.7486 0.7506 0.7074 0.5700 0.7974 0.9179 0.5658 0.6556 0.8017 0.7279 0.7631 0.7290 hom 1894.12 65 1 44083507 . T C 1894.12 Mask AC=2;AF=1.00;AN=2;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=29.14;VQSLOD=8.9142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,65:65:99:1927,162,0 1 44083519 44083519 G A exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon22:c.G3396A:p.R1132R,PTPRF:NM_001329139:exon24:c.G3456A:p.R1152R,PTPRF:NM_130440:exon24:c.G4281A:p.R1427R,PTPRF:NM_002840:exon25:c.G4308A:p.R1436R,PTPRF:NM_001329137:exon26:c.G3474A:p.R1158R,PTPRF:NM_001329138:exon28:c.G3498A:p.R1166R 0.74 0.95 0.58 0.76 0.72 0.56 0.7185 0.9244 0.5125 0.7853 0.7428 0.7491 0.7118 0.5655 0.81 0.92 0.75 0.74 0.52 rs641351 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7082 0.9253 0.5264 0.7099 0.7909 0.7484 0.7505 0.7076 0.5700 0.7968 0.9178 0.5644 0.6556 0.8004 0.7275 0.7624 0.7276 hom 2130.37 64 1 44083519 . G A 2130.37 Mask AC=2;AF=1.00;AN=2;DP=64;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9947;MQ=60.00;MQ0=0;QD=33.29;VQSLOD=8.9945;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,64:64:99:2163,175,0 1 44084739 44084739 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon24:c.C3600T:p.R1200R,PTPRF:NM_001329139:exon26:c.C3660T:p.R1220R,PTPRF:NM_130440:exon26:c.C4485T:p.R1495R,PTPRF:NM_002840:exon27:c.C4512T:p.R1504R,PTPRF:NM_001329137:exon28:c.C3678T:p.R1226R,PTPRF:NM_001329138:exon30:c.C3702T:p.R1234R 0.74 0.95 0.58 0.76 0.72 0.56 0.7192 0.9245 0.5135 0.7866 0.7420 0.7497 0.7137 0.5662 0.81 0.92 0.75 0.75 0.68 rs1143701 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7087 0.9251 0.5269 0.7137 0.7913 0.7487 0.7508 0.7083 0.5700 0.7969 0.9179 0.5658 0.6689 0.8011 0.7273 0.7623 0.7285 hom 4826.02 155 1 44084739 . C T 4826.02 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=57.44;MQ0=0;QD=31.14;VQSLOD=7.3904;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,154:155:99:4825,388,0 1 44086831 44086831 C T exonic PTPRF synonymous SNV PTPRF:NM_001329140:exon30:c.C4671T:p.Y1557Y,PTPRF:NM_001329139:exon32:c.C4731T:p.Y1577Y,PTPRF:NM_130440:exon32:c.C5556T:p.Y1852Y,PTPRF:NM_002840:exon33:c.C5583T:p.Y1861Y,PTPRF:NM_001329137:exon34:c.C4749T:p.Y1583Y,PTPRF:NM_001329138:exon36:c.C4773T:p.Y1591Y 0.57 0.55 0.5 0.69 0.64 0.45 0.6132 0.5728 0.4670 0.7087 0.6619 0.6689 0.6069 0.4467 0.64 0.58 0.67 0.58 0.55 rs1143702 COSM3773502;COSM3773501 1(kidney) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6103 0.5711 0.4741 0.6517 0.7136 0.6640 0.6694 0.6250 0.4513 0.6435 0.5621 0.4916 0.6067 0.7244 0.6450 0.6927 0.6184 hom 2145.85 66 1 44086831 . C T 2145.85 Mask AC=2;AF=1.00;AN=2;DP=66;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.51;VQSLOD=14.1011;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,66:66:99:2179,178,0 1 44137257 44137257 C A exonic KDM4A nonsynonymous SNV KDM4A:NM_014663:exon11:c.C1445A:p.A482E 0.74 0.95 0.56 0.79 0.7 0.57 0.7111 0.9262 0.5041 0.8116 0.7344 0.7309 0.6940 0.5758 0.79 0.92 0.73 0.74 0.68 rs586339 COSM4143992 1(breast);2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(biliary_tract) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.615 0.057 N 1.000 0.186 P -0.805 0.016 N 2.59 0.133 T 0.6 0.025 N 0.091 0.089 -0.969 0.374 T 0.000 0.000 T . . . 1.602 0.254 13.86 0.852 0.152 0.145 0.182 N c -0.955 -0.662 0.999 0.397 0.707 0.730 0 4.34 0.511 2.050 0.407 0.242 0.267 0.993 0.376 0.980 0.490 11.697 0.506 . ENSG00000117407.12|ENSG00000117407.12|ENSG00000159214.8 Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Whole_Blood 0.6988 0.9278 0.5159 0.6597 0.8165 0.7409 0.7332 0.6877 0.5708 0.7906 0.9216 0.5453 0.5993 0.8309 0.7244 0.7469 0.7296 hom 2844.27 92 1 44137257 . C A 2844.27 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9958;MQ=59.34;MQ0=0;QD=30.92;VQSLOD=9.0788;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2877,226,0 1 44401384 44401384 A G exonic ARTN 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 0.84 0.74 0.87 0.83 0.91 0.88 0.8848 0.7664 0.8417 0.8358 0.8767 0.9208 0.8738 0.8732 0.87 0.77 0.92 0.77 0.89 rs2242637 COSM4143993 1(thyroid) . . . . . . . . . . . 0.87 0.026 T 0.0 0.026 B 0.001 0.040 B . . . 1 0.090 P -0.115 0.046 N -1.61 0.823 D 0.48 0.031 N 0.045 0.274 -0.963 0.386 T 0.000 0.000 T . . . -0.539 0.053 0.176 0.844 0.147 0.027 0.072 N c -1.116 -0.995 1.000 0.747 0.726 0.872 0 1.91 0.247 -0.113 0.107 0.067 0.174 0.000 0.063 0.830 0.347 5.801 0.176 . ENSG00000117408.6|ENSG00000159214.8|ENSG00000117410.9 Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood|Whole_Blood 0.8861 0.7681 0.8508 0.9270 0.8404 0.8775 0.9215 0.8909 0.8752 0.8672 0.7671 0.8461 0.9205 0.8498 0.8744 0.9252 0.8745 hom 1432.91 48 1 44401384 . A G 1432.91 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8667;MQ=59.52;MQ0=0;QD=29.85;VQSLOD=8.3578;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1466,114,0 1 44415415 44415415 C T exonic IPO13 synonymous SNV IPO13:NM_014652:exon2:c.C411T:p.D137D 0.51 0.088 0.62 0.62 0.76 0.61 0.6710 0.1844 0.5412 0.6377 0.7867 0.7766 0.6949 0.6108 0.59 0.2 0.79 0.38 0.7 rs2240447 COSM3751231 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6789 0.1780 0.5572 0.6826 0.6442 0.7884 0.7846 0.6893 0.6148 0.6023 0.1883 0.5453 0.6225 0.6502 0.7784 0.7912 0.7337 hom 2736.33 80 1 44415415 . C T 2736.33 Mask AC=2;AF=1.00;AN=2;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=59.53;MQ0=0;QD=34.20;VQSLOD=9.3393;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,80:80:99:2769,223,0 1 44595113 44595113 G C exonic KLF17 nonsynonymous SNV KLF17:NM_173484:exon2:c.G170C:p.S57T 0.5 0.22 0.52 0.63 0.69 0.51 0.6088 0.2775 0.5101 0.6680 0.6428 0.6719 0.5828 0.5869 0.54 0.3 0.66 0.43 0.69 rs2429051 COSM3751238;COSM3751237 1(pancreas);1(large_intestine) . . . . . . . . . . . 0.229 0.183 T 0.183 0.275 B 0.053 0.243 B 0.653 0.059 N 1 0.090 P 0.895 0.225 L 2.95 0.097 T -0.56 0.170 N 0.034 0.014 -0.990 0.326 T 0.000 0.000 T . . . 0.055 0.099 3.139 0.872 0.165 0.015 0.049 N c -1.454 -1.518 0.000 0.050 0.554 0.283 0 -3.88 0.039 -0.429 0.070 -1.582 0.009 0.000 0.063 0.000 0.016 1.663 0.026 . ENSG00000178028.9 Muscle_Skeletal 0.6052 0.2705 0.5144 0.6368 0.6658 0.6433 0.6724 0.6286 0.5561 0.5598 0.2848 0.5322 0.6074 0.6760 0.6542 0.6823 0.6166 het 1462.70 127 1 44595113 . G C 1462.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.702;DP=127;Dels=0.00;FS=1.461;HRun=1;HaplotypeScore=3.3659;MQ=59.34;MQ0=0;MQRankSum=1.845;QD=11.52;ReadPosRankSum=-0.905;VQSLOD=5.2122;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:71,56:127:99:1493,0,2026 1 44595410 44595410 A G exonic KLF17 nonsynonymous SNV KLF17:NM_173484:exon2:c.A467G:p.N156S 0.28 0.091 0.26 0.42 0.4 0.26 0.3305 0.1332 0.2827 0.4720 0.325 0.3647 0.3322 0.2782 0.3 0.14 0.37 0.22 0.33 rs2485652 COSM3746971;COSM3746972 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.163 0.031 N 1 0.090 P -0.435 0.028 N 3.17 0.076 T 1.0 0.014 N 0.007 0.000 -0.946 0.417 T 0.000 0.000 T . . . -3.891 0.000 0.001 0.125 0.002 0.001 0.006 N c -2.279 -2.321 0.856 0.251 0.497 0.185 0 -9.27 0.006 -2.130 0.014 -3.135 0.001 0.000 0.063 0.001 0.043 8.585 0.326 . . . 0.3327 0.1308 0.2867 0.3432 0.4669 0.3076 0.3716 0.3523 0.2779 0.3064 0.1354 0.2840 0.3333 0.4608 0.3157 0.3861 0.3340 het 739.02 52 1 44595410 . A G 739.02 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.037;DP=52;Dels=0.00;FS=7.963;HRun=0;HaplotypeScore=3.1253;MQ=59.56;MQ0=0;MQRankSum=0.256;QD=14.21;ReadPosRankSum=-0.971;VQSLOD=4.8004;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:27,25:52:99:769,0,834 1 44595426 44595426 G A exonic KLF17 synonymous SNV KLF17:NM_173484:exon2:c.G483A:p.S161S 0.28 0.091 0.26 0.42 0.4 0.26 0.3302 0.1328 0.2803 0.4717 0.3257 0.3646 0.3322 0.2781 0.3 0.14 0.37 0.21 0.32 rs2429050 COSM3746974;COSM3746973 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3323 0.1305 0.2845 0.3432 0.4668 0.3078 0.3715 0.3520 0.2778 0.3061 0.1344 0.2828 0.3333 0.4587 0.3155 0.3866 0.3340 het 850.28 71 1 44595426 . G A 850.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.228;DP=71;Dels=0.00;FS=5.284;HRun=0;HaplotypeScore=8.4525;MQ=58.99;MQ0=0;MQRankSum=0.030;QD=11.98;ReadPosRankSum=-1.128;VQSLOD=4.0340;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:38,32:71:99:880,0,1009 1 44596380 44596382 CAA - exonic KLF17 nonframeshift deletion KLF17:NM_173484:exon3:c.1122_1124del:p.N378del 0.23 0.072 0.27 0.29 0.17 0.41 0.2178 0.0913 0.2910 0.2505 0.2086 0.1850 0.2384 0.3645 0.16 0.1 0.19 . . rs34057178 COSM5713030;COSM5713029 1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2235 0.0889 0.2949 0.1469 0.2544 0.2120 0.1875 0.1940 0.3636 0.1668 0.0900 0.2751 0.15 0.2640 0.1997 0.1844 0.2169 het 1674.82 134 1 44596379 . CCAA C 1674.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.264;DP=134;FS=2.875;HRun=0;HaplotypeScore=529.1137;MQ=57.72;MQ0=0;MQRankSum=-0.303;QD=12.50;ReadPosRankSum=0.350;set=variant2 GT:AD:DP:GQ:PL 0/1:89,45:134:99:1714,0,3937 1 45292926 45292926 C G exonic PTCH2 synonymous SNV PTCH2:NM_001166292:exon16:c.G2427C:p.S809S,PTCH2:NM_003738:exon16:c.G2427C:p.S809S 0.0068 0.0008 0.0086 . 0.025 0.002 0.0123 0.0021 0.0092 0.0001 0.0191 0.0177 0.0288 0.0021 0.013 0.0023 0.018 . . rs111471526 . . Benign Gorlin_syndrome RCV000228984.2 MedGen:OMIM:Orphanet:SNOMED_CT C0004779:109400:ORPHA377:69408002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0119 0.0021 0.0081 0.0126 0.0001 0.0184 0.0173 0.0190 0.0020 0.0154 0.0017 0.0036 0.0066 0 0.0195 0.0246 0.0204 het 1750.98 138 1 45292926 . C G 1750.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.481;DP=138;Dels=0.00;FS=0.636;HRun=1;HaplotypeScore=0.7887;MQ=58.51;MQ0=0;MQRankSum=0.657;QD=12.69;ReadPosRankSum=-0.442;VQSLOD=5.3671;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:72,66:138:99:1781,0,1848 1 45504720 45504720 G C exonic ZSWIM5 synonymous SNV ZSWIM5:NM_020883:exon8:c.C1782G:p.T594T 0.51 0.38 0.43 0.45 0.62 0.69 0.5688 0.3891 0.4217 0.5086 0.6010 0.6008 0.6281 0.664 0.53 0.4 0.6 0.47 0.6 rs7551698 COSM3751251 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5621 0.3854 0.4302 0.6313 0.5020 0.5996 0.5949 0.5738 0.6567 0.5275 0.3891 0.4617 0.6033 0.4981 0.6009 0.5920 0.5951 hom 2671.03 90 1 45504720 . G C 2671.03 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4435;MQ=59.02;MQ0=0;QD=29.68;VQSLOD=7.2293;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:90:99:2704,223,0 1 45795084 45795084 G A exonic MUTYH nonsynonymous SNV MUTYH:NM_001350650:exon15:c.C1115T:p.S372F,MUTYH:NM_001350651:exon15:c.C1115T:p.S372F,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_001293190:exon16:c.C1505T:p.S502F,MUTYH:NM_001293191:exon16:c.C1493T:p.S498F,MUTYH:NM_001293192:exon16:c.C1184T:p.S395F,MUTYH:NM_001293196:exon16:c.C1184T:p.S395F,MUTYH:NM_012222:exon16:c.C1535T:p.S512F,MUTYH:NM_001293195:exon17:c.C1460T:p.S487F 0.0046 0.0038 0.0086 . 0.008 0.0041 0.0079 0.0078 0.0061 0 0.0051 0.0107 0.0088 0.0030 0.011 0.0082 0.013 0.022 0.0082 rs140118273 COSM5020660 1(soft_tissue) Benign|other|Benign|Benign not_provided|MYH-associated_polyposis|not_specified|Hereditary_cancer-predisposing_syndrome RCV000034672.3|RCV000119200.4|RCV000121601.3|RCV000132436.5 MedGen|MedGen:OMIM:Orphanet|MedGen|MedGen:SNOMED_CT CN221809|C1837991:608456:ORPHA247798|CN169374|C0027672:699346009 . . . . . . 0.014 0.531 D 0.908 0.481 P 0.351 0.411 B 0.638 0.106 N 1 0.090 N 1.1 0.281 L -0.34 0.685 T -2.03 0.466 N 0.109 0.298 -0.963 0.387 T 0.131 0.442 T . . . 2.095 0.313 16.82 0.944 0.243 0.068 0.127 N c -0.997 -1.026 1.000 0.747 0.731 0.878 0 0.173 0.143 1.756 0.378 -0.253 0.089 0.106 0.227 0.089 0.185 6.802 0.228 MutY\x2c C-terminal|NUDIX hydrolase domain|NUDIX hydrolase domain-like;NUDIX hydrolase domain-like . . 0.0084 0.0075 0.0067 0.0240 0 0.0047 0.0111 0.0119 0.0028 0.0081 0.0091 0.0072 0.0265 0 0.0043 0.0091 0.0051 het 2642.58 211 1 45795084 . G A 2642.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.717;DP=211;Dels=0.00;FS=3.986;HRun=1;HaplotypeScore=5.1087;MQ=58.68;MQ0=0;MQRankSum=1.156;QD=12.52;ReadPosRankSum=-0.150;VQSLOD=3.4845;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:113,98:211:99:2673,0,2823 1 45797505 45797505 C G exonic MUTYH nonsynonymous SNV MUTYH:NM_001350650:exon11:c.G585C:p.Q195H,MUTYH:NM_001350651:exon11:c.G585C:p.Q195H,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_001293190:exon12:c.G975C:p.Q325H,MUTYH:NM_001293191:exon12:c.G963C:p.Q321H,MUTYH:NM_001293192:exon12:c.G654C:p.Q218H,MUTYH:NM_001293196:exon12:c.G654C:p.Q218H,MUTYH:NM_012222:exon12:c.G1005C:p.Q335H,MUTYH:NM_001293195:exon13:c.G930C:p.Q310H 0.31 0.26 0.48 0.39 0.24 0.26 0.2967 0.2846 0.5312 0.4303 0.2429 0.2600 0.3011 0.2448 0.25 0.26 0.25 0.35 0.13 rs3219489 COSM3751252 1(haematopoietic_and_lymphoid_tissue);19(soft_tissue);1(large_intestine) Benign|Benign|Benign|Benign|Benign not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Carcinoma_of_colon|MYH-associated_polyposis RCV000034684.1|RCV000079500.6|RCV000131427.2|RCV000144634.1|RCV000299432.1 MedGen|MedGen|MedGen:SNOMED_CT|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet CN221809|CN169374|C0027672:699346009|C0699790:114500:269533000|C1837991:608456:ORPHA247798 . . . . . . 0.168 0.284 T 0.343 0.386 B 0.086 0.342 B 0.038 0.243 N 0.743 0.588 P 2.665 0.782 M 3.23 0.229 T -1.03 0.270 N 0.056 0.088 -0.933 0.437 T 0.000 0.000 T . . . 0.336 0.126 6.039 0.797 0.124 0.147 0.184 N c -0.583 -0.613 0.998 0.361 0.732 0.924 0 1.26 0.204 -0.265 0.086 0.935 0.490 0.000 0.063 0.732 0.317 2.473 0.043 DNA glycosylase|Helix-turn-helix\x2c base-excision DNA repair\x2c C-terminal ENSG00000117450.9|ENSG00000117450.9|ENSG00000117450.9|ENSG00000236624.4|ENSG00000236624.4|ENSG00000117450.9|ENSG00000236624.4|ENSG00000070759.12|ENSG00000117450.9|ENSG00000236624.4|ENSG00000070759.12 Adipose_Subcutaneous|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Lung|Lung|Skin_Not_Sun_Exposed_Suprapubic|Testis|Thyroid|Whole_Blood|Whole_Blood 0.2891 0.2621 0.4876 0.2641 0.3969 0.2202 0.2446 0.2963 0.2371 0.2584 0.2696 0.4353 0.3013 0.4143 0.2278 0.2327 0.2382 hom 382.83 11 1 45797505 . C G 382.83 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=34.80;VQSLOD=12.4592;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:33.10:416,33,0 1 46032307 46032307 G A exonic AKR1A1 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 0.004 . 0.0043 . 0.011 0.0061 0.0071 0.0015 0.0037 0 0.0095 0.0100 0.0033 0.0041 0.0068 0.0007 0.0099 . . rs61751012 . . . . . . . . . . . . . 0.223 0.187 T 0.075 0.227 B 0.097 0.288 B 0.000 0.473 N 1.000 0.490 D 2.66 0.781 M 0.81 0.485 T -2.91 0.698 D 0.34 0.401 -0.914 0.464 T 0.118 0.415 T . . . 2.978 0.418 22.2 0.988 0.457 0.961 0.674 D c 0.170 0.299 0.997 0.356 0.672 0.522 0 5.21 0.719 5.555 0.668 1.048 0.713 1.000 0.715 0.998 0.697 8.333 0.312 Aldo/keto reductase\x2c conserved site|NADP-dependent oxidoreductase domain . . 0.0069 0.0018 0.0052 0.0038 5.798e-05 0.0074 0.0101 0.0086 0.0041 0.0068 0.0017 0.0048 0 0 0.0074 0.0107 0.0071 het 2067.27 189 1 46032307 . G A 2067.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.477;DP=189;Dels=0.00;FS=3.365;HRun=0;HaplotypeScore=1.8924;MQ=59.25;MQ0=0;MQRankSum=-1.568;QD=10.94;ReadPosRankSum=1.126;VQSLOD=5.2333;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,82:189:99:2097,0,2749 1 46078854 46078854 A G exonic NASP 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 0.68 0.73 0.65 0.66 0.72 0.61 0.6993 0.7540 0.6591 0.6344 0.7739 0.7087 0.7122 0.6582 0.72 0.75 0.7 0.61 0.71 rs2230658 COSM3746978;COSM3746977 1(haematopoietic_and_lymphoid_tissue);1(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6987 0.7589 0.6664 0.7175 0.6422 0.7669 0.7058 0.6967 0.6514 0.7244 0.7589 0.6635 0.7285 0.6125 0.7627 0.7112 0.7168 het 476.10 76 1 46078854 . A G 476.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.782;DP=76;Dels=0.00;FS=1.043;HRun=1;HaplotypeScore=0.0000;MQ=59.70;MQ0=0;MQRankSum=0.418;QD=6.26;ReadPosRankSum=-1.105;VQSLOD=5.1569;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,22:76:99:506,0,1516 1 46078884 46078884 C T exonic NASP 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 0.68 0.73 0.65 0.66 0.72 0.61 0.6996 0.7516 0.6582 0.6348 0.7743 0.7095 0.7168 0.6590 0.72 0.75 0.7 0.61 0.72 rs2230659 COSM3746979;COSM3746980 1(haematopoietic_and_lymphoid_tissue);1(liver);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7012 0.7574 0.6718 0.7216 0.6441 0.7681 0.7079 0.6991 0.6567 0.7234 0.7548 0.6623 0.7285 0.6100 0.7627 0.7118 0.7194 het 927.15 100 1 46078884 . C T 927.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.467;DP=100;Dels=0.00;FS=10.241;HRun=0;HaplotypeScore=1.5115;MQ=59.58;MQ0=0;MQRankSum=0.225;QD=9.27;ReadPosRankSum=0.542;VQSLOD=3.6170;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,37:100:99:957,0,1461 1 46086077 46086077 C T exonic CCDC17 nonsynonymous SNV CCDC17:NM_001114938:exon13:c.G1739A:p.S580N,CCDC17:NM_001190182:exon13:c.G1712A:p.S571N 0.69 0.73 0.65 0.69 0.72 0.61 0.7094 0.75 0.6668 0.6771 0.7828 0.7159 0.7254 0.6696 0.72 0.74 0.71 0.64 . rs3014246 COSM3746981;COSM3746982 1(liver) . . . . . . . . . . . 0.421 0.099 T 0.001 0.067 B 0.002 0.063 B . . . 1 0.090 P -0.345 0.033 N 2.25 0.535 T -0.77 0.214 N 0.007 0.000 -0.917 0.460 T 0.000 0.000 T . . . -0.328 0.066 0.573 0.622 0.067 0.020 0.061 N c -1.231 -1.294 1.000 0.517 0.490 0.173 0 -0.827 0.102 -0.292 0.083 -0.563 0.046 0.006 0.172 0.000 0.016 6.069 0.190 . ENSG00000159592.6|ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000197429.6|ENSG00000159588.10|ENSG00000159592.6|ENSG00000234329.1|ENSG00000159592.6|ENSG00000117450.9|ENSG00000086015.16 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood 0.6987 0.7475 0.6641 0.7053 0.6681 0.7721 0.7021 0.6996 0.6482 0.7275 0.7536 0.6671 0.7252 0.6366 0.7723 0.7154 0.7219 het 97.55 21 1 46086077 . C T 97.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.362;DP=21;Dels=0.00;FS=2.046;HRun=1;HaplotypeScore=0.9665;MQ=59.11;MQ0=0;MQRankSum=0.124;QD=4.65;ReadPosRankSum=0.454;VQSLOD=4.3307;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:16,5:21:99:128,0,491 1 46094027 46094027 A G exonic GPBP1L1 synonymous SNV GPBP1L1:NM_021639:exon13:c.T1326C:p.S442S 0.32 0.26 0.35 0.35 0.28 0.4 0.3009 0.2469 0.3391 0.3683 0.2250 0.2898 0.2841 0.3493 0.28 0.25 0.29 0.35 0.2 rs1250 COSM146499 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3008 0.2442 0.3258 0.2880 0.3578 0.2326 0.2925 0.3006 0.3531 0.2772 0.2466 0.3329 0.2781 0.3916 0.2358 0.2890 0.2816 het 2628.25 219 1 46094027 . A G 2628.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.345;DP=219;DS;Dels=0.00;FS=1.824;HRun=1;HaplotypeScore=8.2794;MQ=59.41;MQ0=0;MQRankSum=-0.580;QD=12.00;ReadPosRankSum=-1.801;VQSLOD=4.0138;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,102:219:99:2658,0,3064 1 46095272 46095272 T C exonic GPBP1L1 synonymous SNV GPBP1L1:NM_021639:exon12:c.A1248G:p.K416K 0.32 0.27 0.35 0.32 0.28 0.41 0.3049 0.2471 0.3386 0.3464 0.2623 0.2939 0.2941 0.3584 0.28 0.25 0.3 0.36 0.21 rs1135812 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3054 0.2429 0.3263 0.2954 0.3403 0.2662 0.2954 0.3069 0.3617 0.2817 0.2435 0.3329 0.2781 0.3781 0.2659 0.2937 0.2924 het 1974.57 132 1 46095272 . T C 1974.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.557;DP=132;Dels=0.00;FS=2.583;HRun=1;HaplotypeScore=0.6651;MQ=59.37;MQ0=0;MQRankSum=-0.849;QD=14.96;ReadPosRankSum=0.997;VQSLOD=5.9850;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,78:132:99:2005,0,1429 1 46195375 46195375 T C exonic IPP nonsynonymous SNV IPP:NM_001145349:exon4:c.A791G:p.K264R,IPP:NM_005897:exon4:c.A791G:p.K264R 0.31 0.25 0.35 0.31 0.28 0.41 0.3040 0.2406 0.3380 0.3433 0.2617 0.2933 0.2958 0.3603 0.28 0.25 0.3 0.36 0.17 rs28375469 COSM3751253;COSM146501 1(breast);1(stomach);1(skin);1(prostate);1(large_intestine) . . . . . . . . . . . 0.221 0.192 T 0.003 0.126 B 0.002 0.104 B 0.000 0.523 D 0.000 0.497 P 0.55 0.145 N -0.63 0.740 T -0.47 0.176 N 0.205 0.251 -1.089 0.057 T 0.000 0.000 T . . . 1.993 0.300 16.17 0.997 0.795 0.982 0.804 D c -0.079 0.151 1.000 0.747 0.706 0.609 0 5.81 0.924 7.603 0.819 1.058 0.762 1.000 0.715 0.992 0.562 16.167 0.815 . ENSG00000159592.6|ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000197429.6|ENSG00000159588.10|ENSG00000159588.10|ENSG00000234329.1|ENSG00000159592.6|ENSG00000159592.6|ENSG00000117450.9|ENSG00000086015.16 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Muscle_Skeletal|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Thyroid|Whole_Blood 0.3038 0.2359 0.3237 0.2859 0.3379 0.2660 0.2950 0.3059 0.3617 0.2800 0.2369 0.3341 0.2715 0.3779 0.2668 0.2940 0.2914 het 1250.61 108 1 46195375 . T C 1250.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.872;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8305;MQ=59.44;MQ0=0;MQRankSum=1.500;QD=11.58;ReadPosRankSum=-0.120;VQSLOD=6.5380;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:58,50:108:99:1281,0,1449 1 46476587 46476587 T G exonic MAST2 nonsynonymous SNV MAST2:NM_001319245:exon10:c.T1164G:p.D388E,MAST2:NM_001324321:exon10:c.T702G:p.D234E,MAST2:NM_015112:exon10:c.T1164G:p.D388E,MAST2:NM_001324320:exon11:c.T1185G:p.D395E 0.87 0.92 0.87 0.98 0.72 0.86 0.7924 0.8887 0.8965 0.9823 0.6864 0.7378 0.7567 0.8284 0.79 0.89 0.74 0.85 0.71 rs11211247 COSM1343092;COSM5653785 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.002 0.063 B 0.000 0.843 N 1.000 0.810 P -1.32 0.007 N 1.87 0.241 T 2.01 0.005 N 0.107 0.114 -0.982 0.345 T 0.000 0.000 T . . . -0.057 0.088 2.070 0.215 0.008 0.382 0.257 N c -1.135 -0.870 0.005 0.110 0.707 0.730 0 2.69 0.308 1.068 0.300 -0.348 0.070 1.000 0.715 0.997 0.653 5.815 0.176 Microtubule-associated serine/threonine-protein kinase\x2c domain|Microtubule-associated serine/threonine-protein kinase\x2c pre-PK domain ENSG00000236624.4|ENSG00000132763.10|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000159596.6|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000086015.16|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000236624.4|ENSG00000117450.9|ENSG00000236624.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Thyroid|Thyroid|Whole_Blood 0.7930 0.8869 0.8877 0.7765 0.9791 0.6930 0.735 0.7874 0.8273 0.7898 0.8817 0.8568 0.82 0.9827 0.6976 0.7357 0.7413 het 813 62 1 46476587 . T G 813 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.619;DP=62;Dels=0.00;FS=0.990;HRun=0;HaplotypeScore=0.0000;MQ=57.27;MQ0=0;MQRankSum=-1.305;QD=13.11;ReadPosRankSum=-0.535;VQSLOD=4.1529;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:26,36:62:99:843,0,563 1 46496709 46496709 A G exonic MAST2 synonymous SNV MAST2:NM_001319245:exon23:c.A2739G:p.S913S,MAST2:NM_001324321:exon23:c.A2277G:p.S759S,MAST2:NM_015112:exon23:c.A2739G:p.S913S,MAST2:NM_001324320:exon24:c.A2760G:p.S920S 0.64 0.58 0.63 0.7 0.74 0.59 0.6908 0.6040 0.6598 0.6837 0.7475 0.7159 0.7093 0.6423 0.69 0.63 0.72 0.58 0.76 rs925524 COSM3746985 1(liver);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6906 0.6007 0.6665 0.6981 0.6858 0.7414 0.7146 0.6964 0.6378 0.6786 0.5957 0.6603 0.7185 0.6473 0.7441 0.7132 0.7049 het 854.92 75 1 46496709 . A G 854.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.679;DP=75;Dels=0.00;FS=1.962;HRun=0;HaplotypeScore=1.9552;MQ=58.23;MQ0=0;MQRankSum=-0.039;QD=11.40;ReadPosRankSum=0.215;VQSLOD=5.0464;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:37,37:75:99:885,0,938 1 46498375 46498375 A G exonic MAST2 synonymous SNV MAST2:NM_001319245:exon26:c.A3522G:p.V1174V,MAST2:NM_001324321:exon26:c.A3060G:p.V1020V,MAST2:NM_015112:exon26:c.A3522G:p.V1174V,MAST2:NM_001324320:exon27:c.A3543G:p.V1181V 0.69 0.75 0.64 0.71 0.73 0.56 0.6971 0.7560 0.6570 0.6883 0.7457 0.7104 0.7042 0.6192 0.72 0.75 0.71 0.64 0.8 rs1622208 COSM3746986 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . 0.000 0.810 P . . . . . . . . . . . . . . . . . . . . 0.290 0.122 5.597 0.796 0.124 0.271 0.230 N n 1.170 0.222 0.990 0.319 0.707 0.730 0 0.936 0.185 2.025 0.404 -0.272 0.086 1.000 0.715 0.997 0.653 6.79 0.227 . ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000159588.10|ENSG00000159588.10|ENSG00000234329.1|ENSG00000159588.10|ENSG00000086015.16|ENSG00000159592.6|ENSG00000117450.9 Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid 0.6960 0.7546 0.6691 0.7141 0.6925 0.7403 0.7091 0.6949 0.6130 0.7206 0.7498 0.6627 0.7119 0.6545 0.7418 0.7099 0.7105 het 1647.58 139 1 46498375 . A G 1647.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.730;DP=139;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6404;MQ=58.33;MQ0=0;MQRankSum=1.771;QD=11.85;ReadPosRankSum=0.626;VQSLOD=5.0132;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,61:139:99:1678,0,2075 1 46500613 46500613 T C exonic MAST2 synonymous SNV MAST2:NM_001319245:exon29:c.T4269C:p.T1423T,MAST2:NM_001324321:exon29:c.T3810C:p.T1270T,MAST2:NM_015112:exon29:c.T4272C:p.T1424T,MAST2:NM_001324320:exon30:c.T4293C:p.T1431T 0.12 0.047 0.13 0.015 0.28 0.14 0.2065 0.0814 0.1006 0.0177 0.3138 0.2644 0.2427 0.1733 0.2 0.082 0.26 0.11 0.28 rs17855317 COSM426374 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2050 0.0795 0.1097 0.2226 0.0209 0.3074 0.2655 0.2115 0.1739 0.2016 0.0861 0.1420 0.1788 0.0173 0.3025 0.2654 0.2602 het 2799.78 207 1 46500613 . T C 2799.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.997;DP=207;DS;Dels=0.00;FS=5.021;HRun=1;HaplotypeScore=7.2927;MQ=59.13;MQ0=0;MQRankSum=2.000;QD=13.46;ReadPosRankSum=0.858;VQSLOD=4.0369;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:106,101:207:99:2830,0,2793 1 46521517 46521517 G A exonic LOC110117498-PIK3R3;PIK3R3 synonymous SNV PIK3R3:NM_001328654:exon5:c.C423T:p.S141S,PIK3R3:NM_001328653:exon6:c.C648T:p.S216S,LOC110117498-PIK3R3:NM_001303427:exon7:c.C1029T:p.S343S,PIK3R3:NM_001328648:exon7:c.C759T:p.S253S,PIK3R3:NM_001328649:exon7:c.C759T:p.S253S,PIK3R3:NM_001328650:exon7:c.C759T:p.S253S,PIK3R3:NM_001328651:exon7:c.C759T:p.S253S,PIK3R3:NM_001328652:exon7:c.C891T:p.S297S,PIK3R3:NM_003629:exon7:c.C891T:p.S297S,PIK3R3:NM_001114172:exon8:c.C891T:p.S297S,PIK3R3:NM_001303428:exon8:c.C942T:p.S314S 0.64 0.59 0.63 0.69 0.73 0.56 0.6810 0.6028 0.6491 0.6729 0.7455 0.7092 0.6976 0.6156 0.67 0.6 0.71 0.59 0.8 rs785468 COSM3746987 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6823 0.6026 0.6585 0.7062 0.6757 0.7388 0.7077 0.6832 0.6109 0.6766 0.5981 0.6487 0.7086 0.645 0.7415 0.7094 0.7047 het 1550.72 165 1 46521517 . G A 1550.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.350;DP=165;Dels=0.00;FS=2.822;HRun=0;HaplotypeScore=6.7552;MQ=58.87;MQ0=0;MQRankSum=-0.565;QD=9.40;ReadPosRankSum=-0.605;VQSLOD=4.3815;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:95,70:165:99:1581,0,2450 1 46521559 46521559 A T exonic LOC110117498-PIK3R3;PIK3R3 nonsynonymous SNV PIK3R3:NM_001328654:exon5:c.T381A:p.N127K,PIK3R3:NM_001328653:exon6:c.T606A:p.N202K,LOC110117498-PIK3R3:NM_001303427:exon7:c.T987A:p.N329K,PIK3R3:NM_001328648:exon7:c.T717A:p.N239K,PIK3R3:NM_001328649:exon7:c.T717A:p.N239K,PIK3R3:NM_001328650:exon7:c.T717A:p.N239K,PIK3R3:NM_001328651:exon7:c.T717A:p.N239K,PIK3R3:NM_001328652:exon7:c.T849A:p.N283K,PIK3R3:NM_003629:exon7:c.T849A:p.N283K,PIK3R3:NM_001114172:exon8:c.T849A:p.N283K,PIK3R3:NM_001303428:exon8:c.T900A:p.N300K 0.68 0.75 0.64 0.69 0.73 0.56 0.6940 0.7478 0.6556 0.6723 0.7453 0.7097 0.7048 0.6137 0.72 0.74 0.71 0.63 0.8 rs785467 COSM3735974 1(skin);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.040 B 0.000 0.843 N 0.999 0.810 P -1.725 0.003 N 1.75 0.262 T 1.03 0.014 N 0.02 0.029 -0.960 0.391 T 0.000 0.000 T . . . 0.729 0.163 9.016 0.543 0.050 0.380 0.257 N c -0.898 -0.598 0.228 0.184 0.732 0.924 0 3.95 0.448 1.163 0.312 0.152 0.238 1.000 0.715 0.999 0.750 6.246 0.199 PI3K p85 subunit\x2c inter-SH2 domain ENSG00000086015.16|ENSG00000086015.16|ENSG00000117450.9|ENSG00000086015.16|ENSG00000117450.9|ENSG00000197429.6|ENSG00000159592.6|ENSG00000159588.10|ENSG00000159588.10|ENSG00000234329.1|ENSG00000159588.10|ENSG00000086015.16|ENSG00000159592.6|ENSG00000117450.9 Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Heart_Left_Ventricle|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid|Thyroid 0.6937 0.7486 0.6673 0.7099 0.6768 0.7397 0.7087 0.6916 0.6122 0.7188 0.7464 0.6599 0.7086 0.6461 0.7414 0.7095 0.7100 het 1360.79 122 1 46521559 . A T 1360.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.941;DP=122;Dels=0.00;FS=3.455;HRun=2;HaplotypeScore=3.4429;MQ=59.34;MQ0=0;MQRankSum=0.668;QD=11.15;ReadPosRankSum=-0.384;VQSLOD=5.7766;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:68,54:122:99:1391,0,1794 1 46655158 46655158 T C exonic POMGNT1 nonsynonymous SNV POMGNT1:NM_001290129:exon20:c.A1801G:p.M601V,POMGNT1:NM_001290130:exon20:c.A1438G:p.M480V,POMGNT1:NM_001243766:exon21:c.A1867G:p.M623V,POMGNT1:NM_017739:exon21:c.A1867G:p.M623V 0.94 0.79 0.99 1. 1. 1. 0.9838 0.8219 0.9926 1 1 0.9997 0.9911 0.9998 0.94 0.83 1. 0.92 0.93 rs6659553 . . Benign not_specified RCV000153758.3 MedGen CN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.999 0.810 P -0.625 0.021 N -1.76 0.836 D 1.3 0.010 N 0.046 0.486 -0.926 0.448 T 0.000 0.000 T . . . 0.266 0.120 5.360 0.858 0.156 0.183 0.200 N c -0.667 -0.308 1.000 0.747 0.732 0.924 0 5.92 0.955 5.829 0.688 0.069 0.176 1.000 0.715 0.998 0.697 15.028 0.712 Nucleotide-diphospho-sugar transferases . . 0.9872 0.8176 0.9912 0.9998 1 1 0.9996 0.9952 0.9997 0.9486 0.8207 0.9881 1 1 1 0.9995 0.9898 hom 1101.09 35 1 46655158 . T C 1101.09 Mask AC=2;AF=1.00;AN=2;DP=35;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.46;VQSLOD=13.9330;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,35:35:90.28:1134,90,0 1 46810530 46810530 A G exonic NSUN4 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 0.3 0.14 0.36 0.52 0.34 0.23 0.3227 0.1716 0.4057 0.4855 0.3136 0.3288 0.3436 0.2525 0.28 0.18 0.33 0.24 0.37 rs3737744 COSM3746988 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.336 0.330 T 0.004 0.112 B 0.005 0.104 B 0.000 0.497 D 0.005 0.450 P 2.14 0.601 M 2.54 0.144 T -1.39 0.344 N 0.097 0.308 -0.912 0.466 T 0.000 0.000 T . . . 2.074 0.310 16.69 0.989 0.485 0.932 0.572 D c -0.061 0.131 1.000 0.747 0.707 0.730 0 5.45 0.796 5.674 0.676 1.199 0.960 1.000 0.715 1.000 0.888 15.186 0.726 . ENSG00000085999.7|ENSG00000117481.6|ENSG00000117481.6|ENSG00000117481.6|ENSG00000117480.11|ENSG00000117481.6 Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Muscularis|Muscle_Skeletal|Testis|Thyroid|Whole_Blood 0.3335 0.1693 0.4074 0.4777 0.4945 0.3136 0.3224 0.3488 0.2500 0.2888 0.1584 0.3663 0.5066 0.4746 0.3054 0.3318 0.2910 het 3057.41 245 1 46810530 . A G 3057.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.942;DP=245;DS;Dels=0.00;FS=1.581;HRun=1;HaplotypeScore=5.4935;MQ=59.21;MQ0=0;MQRankSum=-1.023;QD=12.48;ReadPosRankSum=-2.008;VQSLOD=4.3213;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:126,119:245:99:3087,0,3258 1 46827456 46827456 A G exonic NSUN4 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 0.2 0.055 0.13 0.28 0.15 0.44 0.1716 0.0640 0.1119 0.3160 0.0909 0.1326 0.1949 0.3945 0.11 0.064 0.13 0.14 0.11 rs9865 COSM3997560 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.499 0.103 T 0.001 0.067 B 0.002 0.093 B 0.003 0.352 N 0.226 0.342 P 1.175 0.300 L 3.02 0.090 T -0.5 0.166 N 0.06 0.077 -0.906 0.474 T 0.000 0.000 T . . . 0.870 0.177 9.889 0.953 0.260 0.768 0.374 D c -0.321 -0.155 0.030 0.140 0.719 0.830 0 3.01 0.337 1.226 0.320 1.199 0.960 0.993 0.376 1.000 0.888 6.612 0.218 S-adenosyl-L-methionine-dependent methyltransferase|SAM-dependent methyltransferase RsmB/NOP2-type ENSG00000117480.11|ENSG00000117480.11 Artery_Tibial|Cells_Transformed_fibroblasts 0.1664 0.0637 0.1056 0.1340 0.3127 0.0929 0.1322 0.1548 0.3919 0.1172 0.0652 0.1026 0.1258 0.3242 0.1053 0.1261 0.1548 het 2224.04 147 1 46827456 . A G 2224.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.497;DP=147;Dels=0.00;FS=1.994;HRun=0;HaplotypeScore=2.4304;MQ=59.59;MQ0=0;MQRankSum=1.997;QD=15.13;ReadPosRankSum=-0.157;VQSLOD=6.0105;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,78:147:99:2254,0,1854 1 46871986 46871986 T C exonic FAAH synonymous SNV FAAH:NM_001441:exon7:c.T897C:p.C299C 0.88 0.86 0.93 0.99 0.85 0.81 0.8593 0.8552 0.9316 0.9979 0.9251 0.8407 0.8606 0.7871 0.84 0.85 0.84 0.91 0.79 rs324419 COSM3746989 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8649 0.8555 0.9309 0.8390 0.9976 0.9245 0.8383 0.8631 0.7852 0.8703 0.8558 0.9258 0.8377 0.9994 0.9147 0.8523 0.8625 hom 4388.10 144 1 46871986 . T C 4388.10 Mask AC=2;AF=1.00;AN=2;DP=144;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5401;MQ=59.29;MQ0=0;QD=30.47;VQSLOD=7.7328;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4387,385,0 1 46976837 46976837 C T exonic DMBX1 synonymous SNV DMBX1:NM_147192:exon3:c.C579T:p.P193P,DMBX1:NM_172225:exon3:c.C564T:p.P188P 0.18 0.029 0.36 0.011 0.4 0.19 0.3308 0.0842 0.3507 0.0061 0.3787 0.4329 0.3452 0.2056 0.32 0.095 0.44 0.16 0.38 rs1886116 COSM4144043 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3347 0.0742 0.3577 0.4288 0.0056 0.3712 0.4341 0.3708 0.2068 0.3013 0.0766 0.3747 0.4503 0.0074 0.3794 0.4363 0.3395 het 1360.77 76 1 46976837 . C T 1360.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.781;DP=76;Dels=0.00;FS=7.400;HRun=0;HaplotypeScore=2.8924;MQ=59.20;MQ0=0;MQRankSum=0.351;QD=17.90;ReadPosRankSum=-0.652;VQSLOD=4.0288;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:28,47:76:99:1391,0,626 1 47078637 47078637 T C exonic MOB3C synonymous SNV MOB3C:NM_145279:exon2:c.A513G:p.A171A,MOB3C:NM_201403:exon2:c.A357G:p.A119A 0.67 0.58 0.57 0.96 0.5 0.76 0.5853 0.5737 0.5868 0.9456 0.5508 0.4998 0.5758 0.7740 0.51 0.57 0.48 0.7 0.37 rs4660947 COSM4144047;COSM4144048 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5823 0.5707 0.5775 0.5136 0.9461 0.5534 0.4916 0.5525 0.7592 0.5481 0.5651 0.5716 0.5132 0.9364 0.5539 0.4926 0.5716 het 1157.51 116 1 47078637 . T C 1157.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.001;DP=116;Dels=0.00;FS=3.451;HRun=0;HaplotypeScore=6.8217;MQ=58.34;MQ0=0;MQRankSum=0.751;QD=9.98;ReadPosRankSum=0.043;VQSLOD=4.3921;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,48:116:99:1188,0,1919 1 47080679 47080679 G A exonic MOB3C stopgain MOB3C:NM_145279:exon1:c.C70T:p.R24X 0.64 0.56 0.52 0.93 0.48 0.71 0.5572 0.5558 0.5250 0.9168 0.5020 0.4805 0.5529 0.7249 0.5 0.56 0.47 0.69 0.41 rs6671527 . . . . . . . . . . . . . . . . . . . . . . . . . 1 0.588 P . . . . . . . . . . . . . . . . . . . . 6.368 0.879 29.5 0.994 0.613 0.001 0.007 N c -0.060 -0.439 1.000 0.428 0.493 0.174 0 2.2 0.268 -0.300 0.082 -0.770 0.033 0.000 0.063 0.008 0.104 5.311 0.150 . ENSG00000079277.15|ENSG00000079277.15|ENSG00000269956.1|ENSG00000142961.10|ENSG00000079277.15|ENSG00000142961.10|ENSG00000269956.1 Esophagus_Mucosa|Lung|Lung|Muscle_Skeletal|Whole_Blood|Whole_Blood|Whole_Blood 0.5535 0.5540 0.5194 0.5072 0.9158 0.5055 0.4764 0.5278 0.7213 0.5269 0.5461 0.5143 0.4967 0.9116 0.5032 0.4802 0.5370 het 852.75 72 1 47080679 . G A 852.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.473;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=59.36;MQ0=0;MQRankSum=-0.631;QD=11.84;ReadPosRankSum=-0.034;VQSLOD=6.7872;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:883,0,867 1 47279175 47279175 C T exonic CYP4B1 nonsynonymous SNV CYP4B1:NM_001319162:exon3:c.C28T:p.R10W,CYP4B1:NM_001319163:exon3:c.C28T:p.R10W,CYP4B1:NM_001319161:exon4:c.C472T:p.R158W,CYP4B1:NM_000779:exon5:c.C517T:p.R173W,CYP4B1:NM_001099772:exon5:c.C517T:p.R173W 0.18 0.2 0.11 0.21 0.14 0.23 0.1498 0.1845 0.1220 0.1921 0.1032 0.1205 0.1322 0.2634 0.15 0.19 0.13 0.12 0.24 rs4646487 COSM3746991 1(liver) . . . . . . . . . . . 0.01 0.586 D 0.991 0.715 D 0.394 0.568 B 0.167 0.031 N 1.000 0.090 P 2.08 0.576 M -0.37 0.689 T -1.75 0.526 N 0.091 0.383 -1.098 0.043 T 0.001 0.003 T . . . 5.046 0.679 25.2 0.998 0.894 0.105 0.158 N c -0.317 -0.481 0.000 0.038 0.554 0.246 0 0.775 0.176 0.973 0.288 -0.027 0.127 0.191 0.240 0.361 0.248 5.297 0.150 . . . 0.1487 0.1900 0.1247 0.1055 0.1962 0.1131 0.1237 0.1215 0.2625 0.1445 0.1886 0.1301 0.1093 0.1963 0.1113 0.1229 0.1388 het 1557.01 107 1 47279175 . C T 1557.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.475;DP=107;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.4324;MQ=59.42;MQ0=0;MQRankSum=2.058;QD=14.55;ReadPosRankSum=-0.767;VQSLOD=5.6269;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,59:107:99:1587,0,1232 1 47395973 47395973 G A exonic CYP4A11 synonymous SNV CYP4A11:NM_000778:exon12:c.C1374T:p.I458I,CYP4A11:NM_001319155:exon12:c.C1278T:p.I426I 0.57 0.34 0.68 0.49 0.78 0.67 0.7032 0.4125 0.6986 0.5182 0.7743 0.7825 0.7189 0.6351 0.66 0.42 0.78 0.51 0.62 rs1126743 COSM3997566 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7073 0.4023 0.6923 0.7753 0.5256 0.7665 0.7847 0.7538 0.6253 0.6597 0.4132 0.7010 0.7781 0.5335 0.7702 0.7812 0.7306 het 2674.68 224 1 47395973 . G A 2674.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.870;DP=224;DS;Dels=0.00;FS=1.738;HRun=1;HaplotypeScore=3.8123;MQ=57.33;MQ0=0;MQRankSum=3.905;QD=11.94;ReadPosRankSum=-0.539;VQSLOD=2.3102;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:122,102:224:99:2705,0,3114 1 47607281 47607281 C T exonic CYP4A22 nonsynonymous SNV CYP4A22:NM_001010969:exon3:c.C376T:p.R126W,CYP4A22:NM_001308102:exon3:c.C376T:p.R126W 0.37 0.23 0.29 0.61 0.21 0.55 0.2919 0.2405 0.2915 0.6084 0.2066 0.2096 0.2764 0.5264 0.22 0.25 0.21 0.35 0.35 rs12564525 COSM5827919;COSM3746996 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.196 P -4.805 0.000 N -0.27 0.677 T 9.1 0.000 N 0.145 0.184 -0.903 0.477 T 0.000 0.000 T . . . 1.681 0.263 14.30 0.782 0.118 0.001 0.009 N c -1.512 -1.289 0.000 0.041 0.497 0.185 0 1.66 0.230 2.987 0.488 -0.155 0.108 0.997 0.399 0.011 0.114 6.861 0.231 . ENSG00000162365.7|ENSG00000162365.7 Adipose_Subcutaneous|Nerve_Tibial 0.2896 0.2383 0.2823 0.1596 0.6101 0.2135 0.2142 0.2395 0.5230 0.2389 0.2439 0.2912 0.1656 0.5881 0.2057 0.2031 0.2633 het 1344.25 129 1 47607281 . C T 1344.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.277;DP=129;Dels=0.00;FS=6.665;HRun=0;HaplotypeScore=0.8321;MQ=56.78;MQ0=0;MQRankSum=0.021;QD=10.42;ReadPosRankSum=-1.071;VQSLOD=2.9410;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:70,59:129:99:1374,0,1768 1 47609489 47609489 T C exonic CYP4A22 nonsynonymous SNV CYP4A22:NM_001010969:exon6:c.T691C:p.C231R 0.58 0.5 0.46 0.93 0.35 0.65 0.4542 0.4933 0.4599 0.9360 0.3743 0.3479 0.4327 0.6353 0.39 0.5 0.34 0.56 0.43 rs10789501 COSM3746998 1(liver) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1 0.273 P -4.785 0.000 N -0.17 0.656 T 5.54 0.000 N 0.068 0.064 -0.930 0.442 T 0.000 0.000 T . . . -1.975 0.008 0.001 0.229 0.009 0.041 0.094 N c -2.007 -1.853 0.043 0.146 0.520 0.210 0 1.94 0.249 0.733 0.256 -0.994 0.022 0.000 0.063 0.000 0.016 3.806 0.082 . ENSG00000186160.4|ENSG00000162365.7|ENSG00000225506.2|ENSG00000186160.4|ENSG00000162365.7|ENSG00000186160.4 Adipose_Subcutaneous|Adipose_Subcutaneous|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Testis 0.4505 0.4938 0.4582 0.2399 0.9383 0.3798 0.3521 0.3938 0.6326 0.4205 0.4983 0.4558 0.2086 0.9363 0.3599 0.3349 0.4334 het 2415.78 183 1 47609489 . T C 2415.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.333;DP=183;Dels=0.00;FS=4.626;HRun=1;HaplotypeScore=6.5651;MQ=58.27;MQ0=0;MQRankSum=0.068;QD=13.20;ReadPosRankSum=0.658;VQSLOD=4.7473;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:88,95:183:99:2446,0,2566 1 47685455 47685455 T C exonic TAL1 synonymous SNV TAL1:NM_001290406:exon3:c.A456G:p.K152K,TAL1:NM_001287347:exon5:c.A933G:p.K311K,TAL1:NM_001290403:exon5:c.A933G:p.K311K,TAL1:NM_001290405:exon5:c.A933G:p.K311K,TAL1:NM_001290404:exon6:c.A933G:p.K311K,TAL1:NM_003189:exon6:c.A933G:p.K311K 1. 1. 1. 1. 1. 1. 1.0000 1 1 1 1 1.0000 1 1 . . . 0.83 0.89 rs927462 COSM3751262;COSM3751261 23(upper_aerodigestive_tract);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 1 1 1 1 1 1.0000 1 1 1 1 1 1 1 1 1 1 hom 1611.55 48 1 47685455 . T C 1611.55 Mask AC=2;AF=1.00;AN=2;DP=48;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.43;MQ0=0;QD=33.57;VQSLOD=8.7005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,48:48:99:1645,135,0 1 47717189 47717189 A G exonic STIL synonymous SNV STIL:NM_001048166:exon17:c.T3486C:p.P1162P,STIL:NM_003035:exon17:c.T3483C:p.P1161P,STIL:NM_001282936:exon18:c.T3483C:p.P1161P,STIL:NM_001282937:exon18:c.T3432C:p.P1144P,STIL:NM_001282938:exon19:c.T3345C:p.P1115P,STIL:NM_001282939:exon19:c.T3291C:p.P1097P 0.39 0.12 0.41 0.43 0.54 0.56 0.4979 0.1617 0.4503 0.4494 0.6535 0.5397 0.5530 0.5336 0.41 0.18 0.53 0.34 0.64 rs2758735 . . Benign\x2cBenign|Benign not_specified\x2cnot_specified|Primary_Microcephaly\x2c_Recessive RCV000147697.1\x2cRCV000080044.7|RCV000265706.1 MedGen\x2cMedGen|MedGen CN169374\x2cCN169374|CN239428 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5038 0.1583 0.4400 0.6509 0.4504 0.6506 0.5255 0.5380 0.5373 0.4384 0.1619 0.4426 0.6358 0.4621 0.6309 0.5404 0.5510 het 1790.72 180 1 47717189 . A G 1790.72 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.741;DP=180;Dels=0.00;FS=7.740;HRun=2;HaplotypeScore=3.3644;MQ=59.66;MQ0=0;MQRankSum=-0.207;QD=9.95;ReadPosRankSum=-0.991;VQSLOD=4.4555;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,73:180:99:1821,0,3001 1 47767914 47767914 G A exonic STIL nonsynonymous SNV STIL:NM_001048166:exon4:c.C257T:p.A86V,STIL:NM_003035:exon4:c.C257T:p.A86V,STIL:NM_001282936:exon5:c.C257T:p.A86V,STIL:NM_001282937:exon5:c.C257T:p.A86V,STIL:NM_001282938:exon5:c.C257T:p.A86V,STIL:NM_001282939:exon5:c.C257T:p.A86V 0.61 0.88 0.59 0.57 0.46 0.44 0.5034 0.8402 0.5480 0.5500 0.3483 0.4622 0.4468 0.4674 0.59 0.82 0.48 0.67 0.3 rs3125630 COSM5618048 1(breast) Benign|other|Benign Primary_autosomal_recessive_microcephaly_7|not_specified|Primary_Microcephaly\x2c_Recessive RCV000020526.1|RCV000147687.2|RCV000262563.1 MedGen:OMIM|MedGen|MedGen C2675187:612703|CN169374|CN239428 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.189 P -2.85 0.000 N 1.87 0.241 T 3.06 0.001 N 0.317 0.412 -0.967 0.379 T 0.000 0.000 T . . . 0.778 0.168 9.328 0.251 0.011 0.019 0.058 N c -0.980 -0.662 0.286 0.190 0.707 0.730 0 5.42 0.786 5.354 0.656 0.244 0.267 1.000 0.715 0.994 0.587 10.116 0.416 . ENSG00000186790.4|ENSG00000162368.9 Brain_Cerebellum|Colon_Transverse 0.4965 0.8441 0.5577 0.3479 0.5479 0.3507 0.4757 0.4615 0.4632 0.5630 0.8405 0.5561 0.3609 0.5386 0.3710 0.4608 0.4497 het 661.83 60 1 47767914 . G A 661.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.071;DP=60;Dels=0.00;FS=2.250;HRun=0;HaplotypeScore=0.0000;MQ=58.28;MQ0=0;MQRankSum=0.282;QD=11.03;ReadPosRankSum=-0.669;VQSLOD=5.5498;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,27:60:99:692,0,856 1 47834209 47834209 G T exonic CMPK1 nonsynonymous SNV CMPK1:NM_016308:exon2:c.G240T:p.Q80H 0.051 0.0008 0.095 0.13 0.049 0.01 0.0445 0.0098 0.0602 0.1207 0.0667 0.0444 0.0441 0.0070 0.035 0.0098 0.048 0.011 0.033 rs35687416 COSM146504 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(biliary_tract) . . . . . . . . . . . 0.003 0.682 D 0.866 0.456 P 0.279 0.385 B 0.000 0.843 D 0.000 0.810 P 1.87 0.498 L -1.08 0.771 T -2.78 0.589 D 0.093 0.094 -0.750 0.579 T 0.013 0.050 T . . . 5.466 0.742 26.2 0.995 0.682 0.967 0.700 D c 0.285 0.309 0.328 0.194 0.706 0.609 0 4.35 0.513 2.326 0.433 0.090 0.195 1.000 0.715 1.000 0.888 10.187 0.420 P-loop containing nucleoside triphosphate hydrolase . . 0.0470 0.0094 0.0606 0.0156 0.1221 0.0658 0.0467 0.0454 0.0066 0.0430 0.0107 0.0537 0.0232 0.1307 0.0644 0.0465 0.0541 het 1333.51 115 1 47834209 . G T 1333.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.435;DP=115;Dels=0.00;FS=2.383;HRun=1;HaplotypeScore=1.9717;MQ=59.68;MQ0=0;MQRankSum=-2.752;QD=11.60;ReadPosRankSum=-0.676;VQSLOD=3.8324;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:62,53:115:99:1364,0,1747 1 48695081 48695081 G A exonic SLC5A9 nonsynonymous SNV SLC5A9:NM_001011547:exon4:c.G454A:p.V152M,SLC5A9:NM_001135181:exon5:c.G529A:p.V177M 0.17 0.31 0.12 0.011 0.16 0.18 0.1621 0.3078 0.0837 0.0095 0.1617 0.1667 0.1523 0.1879 0.21 0.3 0.16 0.21 0.15 rs212989 COSM3751264 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.21 0.196 T 0.095 0.239 B 0.111 0.300 B 0.000 0.629 D 0.270 0.348 P -0.94 0.013 N -2.49 0.892 D -0.81 0.245 N 0.08 0.411 -1.090 0.055 T 0.000 0.000 T . . . 1.911 0.291 15.66 0.983 0.399 0.421 0.266 N c -0.439 -0.310 0.649 0.221 0.487 0.133 0 1.73 0.235 0.575 0.233 1.048 0.713 0.187 0.239 1.000 0.888 3.579 0.074 . ENSG00000117834.8|ENSG00000117834.8 Lung|Thyroid 0.1535 0.3068 0.0845 0.1560 0.0088 0.1606 0.1637 0.1692 0.1876 0.1994 0.3130 0.1074 0.1523 0.0129 0.1521 0.1720 0.1807 het 2738.48 174 1 48695081 . G A 2738.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.438;DP=174;Dels=0.00;FS=0.582;HRun=0;HaplotypeScore=0.9469;MQ=59.62;MQ0=0;MQRankSum=0.765;QD=15.74;ReadPosRankSum=-0.543;VQSLOD=6.4818;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:73,101:174:99:2768,0,1951 1 48697733 48697733 T G exonic SLC5A9 nonsynonymous SNV SLC5A9:NM_001011547:exon7:c.T807G:p.I269M,SLC5A9:NM_001135181:exon8:c.T882G:p.I294M 1. 1. 1. 1. 1. 1. 0.9993 1 0.9986 0.9999 1 0.9989 0.9989 0.9999 1. 1. 1. 1. 1. rs212991 COSM4144064 1(thyroid) . . . . . . . . . . . 0.999 0.021 T 0.0 0.067 B 0.001 0.121 B 0.000 0.513 N 1.000 0.810 P -0.485 0.027 N -2.35 0.881 D -0.16 0.096 N 0.095 0.095 -0.915 0.463 T 0.000 0.000 T . . . 0.292 0.122 5.614 0.268 0.013 0.271 0.230 N c -0.732 -0.498 0.883 0.256 0.554 0.283 0 4.05 0.462 1.922 0.394 0.136 0.221 1.000 0.715 0.989 0.536 5.718 0.171 . . . 0.9992 0.9999 0.9987 1 0.9999 1 0.9987 0.9996 0.9998 0.9995 0.9998 0.9952 1 1 1 0.9993 1 hom 4220.49 127 1 48697733 . T G 4220.49 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7873;MQ=59.82;MQ0=0;QD=33.23;VQSLOD=9.7833;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4220,328,0 1 48697751 48697751 C T exonic SLC5A9 synonymous SNV SLC5A9:NM_001011547:exon7:c.C825T:p.S275S,SLC5A9:NM_001135181:exon8:c.C900T:p.S300S 0.066 0.017 0.088 . 0.17 0.077 0.1345 0.0333 0.1017 0.0002 0.1391 0.1808 0.1564 0.1017 0.14 0.037 0.2 . 0.15 rs61997212 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1357 0.0292 0.1091 0.1983 0.0003 0.1329 0.1826 0.1543 0.1027 0.1159 0.0322 0.1050 0.2318 0.0018 0.1361 0.1698 0.1288 het 1179.29 94 1 48697751 . C T 1179.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.362;DP=94;Dels=0.00;FS=1.888;HRun=0;HaplotypeScore=2.5978;MQ=59.31;MQ0=0;MQRankSum=-0.099;QD=12.55;ReadPosRankSum=-0.687;VQSLOD=6.3311;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,46:94:99:1209,0,1240 1 48708228 48708228 G T exonic SLC5A9 stopgain SLC5A9:NM_001011547:exon13:c.G1777T:p.E593X,SLC5A9:NM_001135181:exon14:c.G1852T:p.E618X 0.11 0.11 0.1 0.011 0.16 0.18 0.1460 0.1339 0.0731 0.0095 0.1623 0.1664 0.1417 0.1876 0.15 0.13 0.16 0.15 0.13 rs850763 COSM3751265 1(large_intestine) . . . . . . . . . . . . . . . . . . . . 0.123 0.027 N 0.000 0.588 P . . . . . . . . . . . . . . . . . . . . 8.005 0.957 35 0.956 0.266 0.061 0.120 N c -0.095 -0.433 0.999 0.392 0.487 0.133 0 2.61 0.301 1.315 0.330 0.066 0.173 0.003 0.159 0.000 0.016 9.569 0.384 . ENSG00000117834.8|ENSG00000117834.8 Lung|Thyroid 0.1398 0.1300 0.0727 0.1549 0.0088 0.1605 0.1623 0.1578 0.1864 0.1471 0.1325 0.0993 0.1523 0.0129 0.1525 0.1700 0.1684 het 1054.88 85 1 48708228 . G T 1054.88 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.493;DP=85;Dels=0.00;FS=0.968;HRun=0;HaplotypeScore=3.5571;MQ=59.44;MQ0=0;MQRankSum=0.697;QD=12.41;ReadPosRankSum=-0.588;VQSLOD=6.4195;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,43:85:99:1085,0,1050 1 48713206 48713206 T C exonic SLC5A9 synonymous SNV SLC5A9:NM_001011547:exon14:c.T2037C:p.Y679Y,SLC5A9:NM_001135181:exon15:c.T2112C:p.Y704Y 0.028 0.011 0.042 0.001 0.065 0.034 0.0592 0.0193 0.0306 0.0001 0.0847 0.0800 0.0540 0.0416 0.057 0.022 0.075 0.011 0.057 rs7535096 COSM4144065 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0585 0.0171 0.0302 0.0750 0.0002 0.0861 0.0784 0.0731 0.0427 0.0546 0.0196 0.0358 0.0728 0 0.0790 0.0751 0.0662 het 1852.17 169 1 48713206 . T C 1852.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.501;DP=169;Dels=0.00;FS=0.618;HRun=0;HaplotypeScore=2.1445;MQ=59.25;MQ0=0;MQRankSum=-0.717;QD=10.96;ReadPosRankSum=0.042;VQSLOD=5.7991;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:92,75:169:99:1882,0,2473 1 48764419 48764419 C T exonic SPATA6 nonsynonymous SNV SPATA6:NM_001286239:exon12:c.G1391A:p.C464Y,SPATA6:NM_001286238:exon13:c.G1385A:p.C462Y,SPATA6:NM_019073:exon13:c.G1433A:p.C478Y 0.27 0.025 0.33 0.35 0.43 0.34 0.3636 0.0754 0.3433 0.3560 0.3719 0.4142 0.4040 0.3534 0.31 0.089 0.42 0.16 0.34 rs1056042 COSM146506 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(skin);3(prostate);2(large_intestine) . . . . . . . . . . . 0.034 0.440 D 0.997 0.689 D 0.994 0.807 D 0.000 0.629 D 0.104 0.360 P 0.805 0.203 L 2.64 0.129 T -2.08 0.475 N 0.858 0.845 -0.865 0.509 T 0.000 0.000 T . . . 6.243 0.862 28.9 0.997 0.805 0.664 0.328 D c 0.420 0.436 0.032 0.140 0.638 0.428 0 4.78 0.605 2.175 0.419 0.852 0.362 1.000 0.715 1.000 0.888 13.188 0.589 . ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000132122.7|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000272491.1|ENSG00000272491.1|ENSG00000117834.8|ENSG00000132122.7|ENSG00000272491.1|ENSG00000272491.1|ENSG00000272491.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina 0.3681 0.0696 0.3577 0.4646 0.3492 0.3622 0.4111 0.3843 0.3530 0.3116 0.0757 0.3618 0.4867 0.3387 0.3665 0.4225 0.3809 het 3211.82 250 1 48764419 . C T 3211.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.613;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=9.5203;MQ=59.20;MQ0=0;MQRankSum=-0.402;QD=12.85;ReadPosRankSum=0.054;VQSLOD=4.4406;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,127:250:99:3242,0,3365 1 49201984 49201984 G A exonic BEND5 synonymous SNV BEND5:NM_001349793:exon4:c.C528T:p.G176G,BEND5:NM_001302082:exon5:c.C528T:p.G176G,BEND5:NM_024603:exon5:c.C1035T:p.G345G,BEND5:NM_001349794:exon6:c.C528T:p.G176G,BEND5:NM_001349795:exon7:c.C780T:p.G260G 0.0014 . 0.0043 0.001 0.003 . 0.0022 0.0011 0.0012 0.0005 0.0008 0.0035 0.0011 0.0002 0.0036 0.0009 0.005 . . rs114450193 COSM1343239;COSM1343240 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0024 0.0008 0.0019 0.0001 0.0003 0.0008 0.0042 0.0016 0.0002 0.0022 0.0008 0 0 0 0.0006 0.0038 0.0021 het 2786.48 206 1 49201984 . G A 2786.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.856;DP=206;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=8.3460;MQ=59.41;MQ0=0;MQRankSum=1.024;QD=13.53;ReadPosRankSum=2.621;VQSLOD=3.4114;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:96,109:206:99:2816,0,2400 1 50661411 50661411 C T exonic ELAVL4 synonymous SNV ELAVL4:NM_001144774:exon5:c.C687T:p.P229P,ELAVL4:NM_001144775:exon5:c.C795T:p.P265P,ELAVL4:NM_001144776:exon5:c.C687T:p.P229P,ELAVL4:NM_001144777:exon5:c.C696T:p.P232P,ELAVL4:NM_001294348:exon5:c.C702T:p.P234P,ELAVL4:NM_001324208:exon5:c.C696T:p.P232P,ELAVL4:NM_001324213:exon5:c.C702T:p.P234P,ELAVL4:NM_001324215:exon5:c.C702T:p.P234P,ELAVL4:NM_021952:exon5:c.C687T:p.P229P,ELAVL4:NM_001324209:exon6:c.C684T:p.P228P,ELAVL4:NM_001324212:exon6:c.C684T:p.P228P,ELAVL4:NM_001324214:exon6:c.C684T:p.P228P 0.82 0.37 0.94 1. 0.97 0.98 0.9282 0.4373 0.9662 0.9988 0.9731 0.9699 0.9548 0.9861 0.8 0.46 0.97 0.7 0.93 rs2480683 COSM4144066;COSM4144067 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9392 0.4339 0.9607 0.9633 0.9988 0.9729 0.9707 0.9526 0.9854 0.8232 0.4454 0.9511 0.9470 1 0.9694 0.9716 0.9460 hom 4414.42 151 1 50661411 . C T 4414.42 Mask AC=2;AF=1.00;AN=2;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.14;MQ0=0;QD=29.23;VQSLOD=8.5598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,151:151:99:4414,358,0 1 50666515 50666515 C T exonic ELAVL4 nonsynonymous SNV ELAVL4:NM_001324208:exon7:c.C817T:p.P273S,ELAVL4:NM_001324213:exon7:c.C823T:p.P275S,ELAVL4:NM_021952:exon7:c.C808T:p.P270S 0.7 0.34 0.88 0.65 0.9 0.88 0.8398 0.4069 0.8726 0.6538 0.8390 0.9138 0.8631 0.8889 0.75 0.43 0.92 0.61 0.89 rs2494876 . . . . . . . . . . . . . 0.799 0.031 T 0.001 0.067 B 0.002 0.063 B 0.001 0.404 N 1.000 0.588 P -0.55 0.024 N 2.89 0.102 T 0.42 0.034 N 0.113 0.123 -1.017 0.247 T 0.000 0.000 T . . . 1.730 0.269 14.58 0.646 0.073 0.947 0.619 D c -0.470 -0.254 0.000 0.053 0.487 0.133 0 3.52 0.393 0.846 0.271 0.065 0.171 0.995 0.385 1.000 0.888 9.992 0.409 . . . 0.8475 0.4028 0.8723 0.9194 0.6384 0.8388 0.9173 0.8833 0.8860 0.7380 0.4086 0.8705 0.8974 0.6264 0.8359 0.9007 0.8467 hom 6484.92 211 1 50666515 . C T 6484.92 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.10;MQ0=0;QD=30.73;VQSLOD=8.7282;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6484,512,0 1 51121198 51121198 T C exonic FAF1 synonymous SNV FAF1:NM_007051:exon8:c.A660G:p.V220V 0.092 0.018 0.071 0.001 0.11 0.28 0.1349 0.0323 0.0643 0.0030 0.1670 0.1390 0.1593 0.2870 0.098 0.038 0.13 0.098 0.09 rs11205753 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1324 0.0278 0.0641 0.1363 0.0022 0.1694 0.1365 0.1400 0.2865 0.1119 0.0294 0.0789 0.1556 0.0018 0.1781 0.1536 0.1704 het 1045.91 75 1 51121198 . T C 1045.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.046;DP=75;Dels=0.00;FS=1.001;HRun=0;HaplotypeScore=0.0000;MQ=59.19;MQ0=0;MQRankSum=-0.631;QD=13.95;ReadPosRankSum=0.281;VQSLOD=6.3539;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:36,39:75:99:1076,0,919 1 51826921 51826921 T C exonic EPS15 nonsynonymous SNV EPS15:NM_001159969:exon12:c.A1524G:p.I508M,EPS15:NM_001981:exon24:c.A2466G:p.I822M 0.23 0.57 0.16 0.012 0.2 0.09 0.2065 0.5231 0.1232 0.0134 0.1352 0.2249 0.1784 0.1222 0.33 0.51 0.23 0.35 0.25 rs17567 COSM4909299;COSM3735975 10(soft_tissue);1(pancreas);1(skin);1(thyroid) . . . . . . . . . . . 0.223 0.187 T 0.001 0.067 B 0.0 0.040 B . . . 1 0.199 P -1.1 0.010 N 0.98 0.421 T 0.81 0.018 N 0.053 0.035 -0.947 0.416 T 0.000 0.000 T . . . 1.996 0.301 16.19 0.907 0.194 0.179 0.198 N c -0.557 -0.292 0.043 0.146 0.732 0.924 0 5.85 0.936 0.699 0.251 -0.384 0.065 1.000 0.715 0.992 0.562 8.804 0.339 . . . 0.1945 0.5294 0.1264 0.2122 0.0119 0.1335 0.2272 0.2063 0.1227 0.2837 0.5167 0.1307 0.2483 0.0155 0.1292 0.2275 0.2065 hom 4398.29 146 1 51826921 . T C 4398.29 Mask AC=2;AF=1.00;AN=2;DP=146;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7608;MQ=59.04;MQ0=0;QD=30.13;VQSLOD=8.8186;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,145:146:99:4398,334,0 1 51873951 51873951 G A exonic EPS15 synonymous SNV EPS15:NM_001159969:exon3:c.C387T:p.Y129Y,EPS15:NM_001981:exon15:c.C1329T:p.Y443Y 0.82 0.89 0.76 0.99 0.62 0.8 0.7347 0.8791 0.8134 0.9935 0.7101 0.6595 0.6795 0.7694 0.73 0.87 0.65 0.89 0.52 rs1065754 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7307 0.8826 0.8006 0.5673 0.9932 0.7065 0.6593 0.6919 0.7675 0.7522 0.8763 0.7840 0.5728 0.9975 0.7030 0.6682 0.7290 hom 4074.31 122 1 51873951 . G A 4074.31 Mask AC=2;AF=1.00;AN=2;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;QD=33.40;VQSLOD=9.2675;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4074,325,0 1 51912760 51912760 T G exonic EPS15 synonymous SNV EPS15:NM_001981:exon10:c.A669C:p.A223A 0.047 0.098 0.027 0.011 0.033 0.043 0.0376 0.0868 0.0316 0.0123 0.0101 0.0330 0.0463 0.0534 0.048 0.079 0.032 0.065 0.025 rs34704431 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0346 0.0870 0.0259 0.0275 0.0105 0.0109 0.0339 0.0415 0.0525 0.0441 0.0835 0.0215 0.0364 0.0142 0.0100 0.0340 0.0418 het 1286.43 77 1 51912760 . T G 1286.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.276;DP=77;Dels=0.00;FS=11.527;HRun=1;HaplotypeScore=3.5127;MQ=58.97;MQ0=0;MQRankSum=0.654;QD=16.71;ReadPosRankSum=0.384;VQSLOD=3.4340;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:30,46:77:99:1316,0,743 1 52266242 52266242 G A exonic NRDC synonymous SNV NRDC:NM_001101662:exon21:c.C2427T:p.P809P,NRDC:NM_001242361:exon23:c.C2235T:p.P745P,NRDC:NM_002525:exon23:c.C2631T:p.P877P 0.49 0.22 0.59 0.82 0.53 0.39 0.5032 0.2639 0.6036 0.8304 0.5228 0.5017 0.5099 0.4097 0.43 0.28 0.5 0.47 0.52 rs8375 COSM3747005;COSM3747004 1(liver);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5166 0.2655 0.5994 0.4843 0.8333 0.5406 0.5046 0.5095 0.4117 0.4650 0.2666 0.5921 0.5430 0.8288 0.5432 0.5142 0.4611 hom 4960.05 165 1 52266242 . G A 4960.05 Mask AC=2;AF=1.00;AN=2;DP=165;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=30.06;VQSLOD=9.3700;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,165:165:99:4960,376,0 1 52290984 52290984 T G exonic NRDC synonymous SNV NRDC:NM_001101662:exon6:c.A1011C:p.G337G,NRDC:NM_001242361:exon8:c.A819C:p.G273G,NRDC:NM_002525:exon8:c.A1215C:p.G405G 0.5 0.25 0.6 0.83 0.52 0.39 0.5039 0.2864 0.6053 0.8300 0.5121 0.4997 0.5110 0.4106 0.43 0.29 0.5 0.49 0.49 rs11205896 COSM3747006;COSM3747007 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5079 0.2804 0.5868 0.4776 0.8281 0.5255 0.4975 0.5010 0.4020 0.4677 0.2893 0.5931 0.5430 0.8253 0.5293 0.5102 0.4653 hom 2428.91 86 1 52290984 . T G 2428.91 Mask AC=2;AF=1.00;AN=2;DP=86;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.24;VQSLOD=13.2791;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,86:86:99:2462,181,0 1 52838992 52838992 A G exonic ORC1 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 0.0094 0.003 0.0086 . 0.035 0.002 0.0205 0.0047 0.0101 0 0.0367 0.0302 0.0143 0.0033 0.018 0.0039 0.025 . 0.025 rs34521609 . . Likely benign|Likely benign not_specified|Meier-Gorlin_syndrome RCV000117877.2|RCV000304858.1 MedGen|MedGen:Orphanet CN169374|C1868684:ORPHA2554 . . . . . . 0.302 0.144 T 0.025 0.179 B 0.05 0.239 B 0.007 0.314 N 0.987 0.405 D -0.345 0.033 N 1.1 0.390 T -1.25 0.316 N 0.124 0.140 -1.081 0.072 T 0.022 0.094 T . . . 1.544 0.247 13.55 0.736 0.101 0.992 0.929 D c -0.237 -0.033 1.000 0.517 0.707 0.730 0 5.18 0.710 6.871 0.751 1.199 0.960 1.000 0.715 0.985 0.512 15.179 0.725 Cdc6\x2c C-terminal domain|Winged helix-turn-helix DNA-binding domain ENSG00000117862.7 Whole_Blood 0.0193 0.0035 0.0093 0.0120 0 0.0377 0.0286 0.0192 0.0038 0.0200 0.0022 0.0095 0.0166 0 0.0343 0.0289 0.0357 het 1496.11 111 1 52838992 . A G 1496.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.422;DP=111;Dels=0.00;FS=5.196;HRun=0;HaplotypeScore=3.8409;MQ=59.46;MQ0=0;MQRankSum=1.513;QD=13.48;ReadPosRankSum=0.492;VQSLOD=5.1360;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:55,56:111:99:1526,0,1500 1 52991638 52991638 C T exonic ZCCHC11 synonymous SNV ZCCHC11:NM_001009881:exon2:c.G315A:p.P105P,ZCCHC11:NM_015269:exon2:c.G315A:p.P105P 0.29 0.015 0.51 0.43 0.37 0.26 0.3356 0.0651 0.5171 0.4602 0.4016 0.3361 0.3822 0.2823 0.25 0.077 0.33 0.29 0.29 rs12123698 COSM3747011 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3515 0.0628 0.5205 0.2913 0.4662 0.4064 0.3352 0.3660 0.2826 0.2843 0.0652 0.5072 0.2848 0.4789 0.4125 0.3445 0.3452 het 2086.48 171 1 52991638 . C T 2086.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.777;DP=171;Dels=0.00;FS=0.571;HRun=0;HaplotypeScore=6.9264;MQ=58.64;MQ0=0;MQRankSum=1.600;QD=12.20;ReadPosRankSum=0.719;VQSLOD=4.5203;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:94,77:171:99:2116,0,2313 1 53072454 53072454 T C exonic GPX7 synonymous SNV GPX7:NM_015696:exon2:c.T237C:p.F79F 0.88 0.97 0.88 0.8 0.84 0.87 0.8478 0.9566 0.8545 0.7817 0.8518 0.8340 0.8612 0.8623 0.88 0.95 0.84 0.88 0.85 rs1970951 COSM3997572 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8471 0.9592 0.8608 0.8652 0.7898 0.8490 0.8297 0.8541 0.8634 0.8689 0.9536 0.8732 0.8377 0.7767 0.8537 0.8346 0.8504 hom 5629.73 174 1 53072454 . T C 5629.73 Mask AC=2;AF=1.00;AN=2;DP=174;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5998;MQ=59.12;MQ0=0;QD=32.35;VQSLOD=7.3197;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,173:174:99:5629,445,0 1 53250650 53250650 G A exonic ZYG11B synonymous SNV ZYG11B:NM_024646:exon5:c.G1194A:p.G398G 0.71 0.91 0.67 0.98 0.43 0.51 0.5462 0.8399 0.7262 0.9674 0.4938 0.4376 0.5507 0.4740 0.57 0.82 0.44 0.81 0.36 rs6588443 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5527 0.8483 0.7208 0.5386 0.9690 0.5 0.4328 0.5239 0.4720 0.5920 0.8428 0.6885 0.55 0.9722 0.4863 0.4312 0.4980 het 1408.10 110 1 53250650 . G A 1408.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.490;DP=110;Dels=0.00;FS=2.506;HRun=1;HaplotypeScore=3.4867;MQ=59.43;MQ0=0;MQRankSum=-1.085;QD=12.80;ReadPosRankSum=0.906;VQSLOD=5.0308;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,56:110:99:1438,0,1466 1 53535478 53535478 G A exonic PODN nonsynonymous SNV PODN:NM_153703:exon2:c.G95A:p.R32H,PODN:NM_001199081:exon3:c.G38A:p.R13H,PODN:NM_001199080:exon4:c.G38A:p.R13H 0.36 0.12 0.34 0.55 0.43 0.41 0.5010 0.2523 0.5519 0.6319 0.6123 0.5294 0.5236 0.4094 0.34 0.18 0.42 0.35 0.22 rs1288386 COSM3747014;COSM3747013 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.099 0.306 T 0.345 0.318 B 0.02 0.179 B . . . 1 0.090 P . . . 0.02 0.623 T -0.19 0.123 N 0.034 0.014 -0.907 0.472 T 0.000 0.000 T . . . 1.144 0.204 11.45 0.959 0.275 0.038 0.090 N c -0.866 -0.992 0.495 0.209 0.581 0.326 0 1.03 0.191 -0.550 0.061 -0.075 0.119 0.000 0.063 0.000 0.016 4.504 0.112 . ENSG00000227644.2|ENSG00000227644.2|ENSG00000227644.2|ENSG00000121310.12 Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Stomach|Whole_Blood 0.4201 0.1697 0.4229 0.4834 0.5725 0.4866 0.4191 0.4386 0.3737 0.3626 0.1655 0.4257 0.4667 0.5785 0.4934 0.4155 0.4018 het 164.92 14 1 53535478 . G A 164.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.471;DP=14;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.87;MQ0=0;MQRankSum=1.365;QD=11.78;ReadPosRankSum=-1.365;VQSLOD=5.5387;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:6,8:14:99:195,0,153 1 53537266 53537266 G A exonic PODN 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 0.56 0.5 0.65 0.74 0.47 0.48 0.5116 0.5122 0.7411 0.7575 0.5066 0.4555 0.5291 0.4469 0.49 0.52 0.47 0.54 0.41 rs1769316 COSM3751291;COSM3751290 2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5255 0.5201 0.7333 0.5217 0.7604 0.5073 0.4547 0.5192 0.4411 0.4993 0.5172 0.6890 0.5 0.7509 0.5092 0.4508 0.4673 het 657.48 61 1 53537266 . G A 657.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.822;DP=61;Dels=0.00;FS=1.006;HRun=0;HaplotypeScore=2.8093;MQ=58.31;MQ0=0;MQRankSum=0.422;QD=10.78;ReadPosRankSum=-0.941;VQSLOD=5.8355;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,28:61:99:687,0,790 1 53544439 53544439 G A exonic PODN synonymous SNV PODN:NM_153703:exon8:c.G1401A:p.P467P,PODN:NM_001199081:exon9:c.G1344A:p.P448P,PODN:NM_001199080:exon10:c.G1344A:p.P448P 0.41 0.15 0.48 0.29 0.73 0.5 0.5900 0.2354 0.4159 0.3015 0.7668 0.7153 0.6430 0.5058 0.57 0.26 0.73 0.36 0.61 rs1288388 COSM3997578;COSM3997579 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5954 0.2260 0.4311 0.7265 0.3042 0.7623 0.7171 0.6384 0.5102 0.5591 0.2331 0.4642 0.6821 0.2907 0.7732 0.7238 0.6670 hom 6943.78 221 1 53544439 . G A 6943.78 Mask AC=2;AF=1.00;AN=2;DP=221;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2499;MQ=59.48;MQ0=0;QD=31.42;VQSLOD=8.5254;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,221:221:99:6942,593,0 1 53544597 53544597 T C exonic PODN nonsynonymous SNV PODN:NM_153703:exon8:c.T1559C:p.V520A,PODN:NM_001199081:exon9:c.T1502C:p.V501A,PODN:NM_001199080:exon10:c.T1502C:p.V501A 0.56 0.4 0.58 0.33 0.9 0.66 0.7717 0.4877 0.5423 0.3871 0.897 0.8939 0.7990 0.6980 0.75 0.47 0.89 0.49 0.58 rs1288389 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.006 0.112 B 0.027 0.259 N 1 0.090 P -0.7 0.018 N 1.9 0.235 T 1.8 0.005 N 0.023 0.006 -0.959 0.395 T 0.000 0.000 T . . . -0.510 0.055 0.208 0.689 0.085 0.013 0.045 N c -0.926 -0.692 1.000 0.422 0.554 0.283 0 3.91 0.442 1.943 0.396 -0.513 0.050 0.912 0.315 0.686 0.306 11.803 0.512 Leucine-rich repeat domain\x2c L domain-like ENSG00000235563.1|ENSG00000235563.1|ENSG00000235563.1|ENSG00000162383.7 Artery_Tibial|Nerve_Tibial|Thyroid|Whole_Blood 0.7417 0.4340 0.5106 0.9232 0.3346 0.8919 0.8871 0.7963 0.6884 0.7279 0.4539 0.5538 0.9040 0.3317 0.9007 0.8893 0.8296 hom 955.55 30 1 53544597 . T C 955.55 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;QD=31.85;VQSLOD=8.5212;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:90.21:989,90,0 1 53553702 53553702 A G exonic SLC1A7 synonymous SNV SLC1A7:NM_001287595:exon11:c.T1839C:p.S613S,SLC1A7:NM_006671:exon11:c.T1662C:p.S554S 0.94 0.79 0.99 1. 1. 1. 0.9828 0.8225 0.9916 0.9998 0.9995 0.9994 0.9905 0.9998 0.94 0.83 1. 0.9 1. rs1288400 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9857 0.8170 0.9909 0.9990 0.9998 0.9996 0.9994 0.9931 0.9996 0.9482 0.8198 0.9868 0.9967 1 0.9991 0.9994 0.9908 hom 2106.18 76 1 53553702 . A G 2106.18 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;QD=27.71;VQSLOD=7.4760;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2139,177,0 1 53553754 53553754 T C exonic SLC1A7 nonsynonymous SNV SLC1A7:NM_001287595:exon11:c.A1787G:p.Q596R,SLC1A7:NM_006671:exon11:c.A1610G:p.Q537R 0.41 0.15 0.48 0.3 0.73 0.5 0.5929 0.2336 0.4154 0.3021 0.7686 0.7166 0.6477 0.5203 0.57 0.26 0.73 0.35 0.67 rs1288401 COSM146516 1(breast);1(stomach) . . . . . . . . . . . 0.346 0.124 T 0.0 0.026 B 0.0 0.013 B 0.001 0.400 N 0.004 0.431 P 1.04 0.263 L 0.79 0.491 T -0.89 0.240 N 0.127 0.144 -1.000 0.299 T 0.000 0.000 T . . . 1.543 0.247 13.54 0.954 0.262 0.942 0.602 D c -0.205 0.010 1.000 0.747 0.487 0.133 0 5.76 0.907 3.687 0.542 1.061 0.807 1.000 0.715 0.701 0.310 16.092 0.808 . ENSG00000236723.1 Brain_Hippocampus 0.5959 0.2230 0.4306 0.7249 0.3034 0.7642 0.7180 0.6394 0.5121 0.5577 0.2275 0.4665 0.6755 0.2890 0.7747 0.7240 0.6691 hom 2705.32 94 1 53553754 . T C 2705.32 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;QD=28.78;VQSLOD=7.9184;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2738,217,0 1 53558270 53558270 A G exonic SLC1A7 synonymous SNV SLC1A7:NM_001287597:exon6:c.T771C:p.R257R,SLC1A7:NM_001287595:exon7:c.T987C:p.R329R,SLC1A7:NM_006671:exon7:c.T987C:p.R329R 0.85 0.74 0.92 0.95 0.83 0.84 0.8389 0.7538 0.9278 0.9595 0.8674 0.8220 0.8422 0.8235 0.81 0.76 0.84 0.73 0.67 rs1288406 COSM4144082 2(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8488 0.7521 0.9266 0.8062 0.9567 0.8678 0.8290 0.8459 0.8234 0.8233 0.7528 0.9079 0.7748 0.9488 0.8717 0.8348 0.8357 hom 1736.23 61 1 53558270 . A G 1736.23 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9279;MQ=59.51;MQ0=1;QD=28.46;VQSLOD=8.5128;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1769,150,0 1 53676448 53676448 G A exonic CPT2 nonsynonymous SNV CPT2:NM_000098:exon4:c.G1102A:p.V368I,CPT2:NM_001330589:exon4:c.G1102A:p.V368I 0.41 0.26 0.38 0.72 0.52 0.22 0.4841 0.2836 0.4291 0.7326 0.5312 0.5438 0.4493 0.2609 0.46 0.29 0.54 0.37 0.52 rs1799821 COSM3751293 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other|Benign|Benign Encephalopathy\x2c_acute\x2c_infection-induced\x2c_4\x2c_susceptibility_to|not_specified|Carnitine_palmitoyltransferase_II_deficiency RCV000023026.3|RCV000078116.6|RCV000202483.2 MedGen:OMIM:Orphanet|MedGen|MedGen:Orphanet:SNOMED_CT C3280160:614212:ORPHA263524|CN169374|C0342790:ORPHA157:238002005 . . . . . . 1.0 0.010 T 0.011 0.147 B 0.004 0.093 B 0.005 0.330 N 0.999 0.218 P -0.74 0.017 N -2.47 0.890 D 0.11 0.057 N 0.077 0.068 -0.955 0.402 T 0.000 0.000 T . . . -1.832 0.010 0.002 0.719 0.095 0.110 0.162 N c -1.380 -1.312 0.002 0.095 0.732 0.924 0 -0.261 0.123 -0.048 0.118 0.073 0.181 0.000 0.063 0.594 0.287 10.737 0.451 . ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9 Artery_Tibial|Esophagus_Muscularis|Muscle_Skeletal|Thyroid 0.4869 0.2788 0.4386 0.4950 0.7296 0.5352 0.5443 0.4832 0.2625 0.4707 0.2888 0.4487 0.4967 0.7367 0.5278 0.5354 0.4663 het 1174.19 85 1 53676448 . G A 1174.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.674;DP=85;Dels=0.00;FS=1.784;HRun=0;HaplotypeScore=0.9997;MQ=60.00;MQ0=0;MQRankSum=0.031;QD=13.81;ReadPosRankSum=0.850;VQSLOD=6.5904;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1204,0,1104 1 53712727 53712727 C T exonic LRP8 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 0.14 0.017 0.18 0.033 0.4 0.15 0.2953 0.0705 0.1833 0.0299 0.4267 0.4032 0.28 0.1659 0.29 0.083 0.4 0.098 0.27 rs5174 COSM3751296 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) other Myocardial_infarction_1 RCV000007411.2 MedGen:OMIM C1838021:608446 . . . . . . 0.049 0.424 D 1.0 0.899 D 0.996 0.832 D . . . 0.000 0.588 P 0.695 0.181 N -2.9 0.939 D -0.29 0.478 N 0.545 0.632 -1.204 0.001 T 0.000 0.000 T . . . 7.290 0.948 34 0.999 0.995 0.994 0.959 D c 0.531 0.603 1.000 0.747 0.707 0.730 0 5.43 0.789 7.185 0.771 0.852 0.362 1.000 0.715 1.000 0.888 17.432 0.874 EGF-like domain ENSG00000162384.9|ENSG00000157193.10|ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9|ENSG00000162384.9 Artery_Tibial|Brain_Cerebellar_Hemisphere|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Testis 0.2940 0.0631 0.1904 0.2934 0.0318 0.4271 0.4018 0.3022 0.1597 0.2862 0.0680 0.1914 0.2848 0.0309 0.4230 0.4114 0.3306 het 753.70 56 1 53712727 . C T 753.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.312;DP=56;Dels=0.00;FS=1.097;HRun=1;HaplotypeScore=0.6651;MQ=59.59;MQ0=0;MQRankSum=0.049;QD=13.46;ReadPosRankSum=0.344;VQSLOD=6.8414;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:27,29:56:99:784,0,669 1 53716416 53716416 G A exonic LRP8 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 0.37 0.25 0.29 0.7 0.41 0.22 0.4015 0.2668 0.3712 0.7263 0.4605 0.4229 0.3789 0.2287 0.36 0.27 0.41 0.35 0.29 rs3737983 COSM3751297 1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4033 0.2636 0.3784 0.3351 0.7245 0.4646 0.4226 0.3843 0.2309 0.4004 0.2705 0.3660 0.3245 0.7165 0.4613 0.4318 0.3904 het 1491.95 143 1 53716416 . G A 1491.95 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.476;DP=143;Dels=0.00;FS=7.567;HRun=0;HaplotypeScore=2.7300;MQ=59.22;MQ0=0;MQRankSum=-0.863;QD=10.43;ReadPosRankSum=0.394;VQSLOD=4.6314;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:82,61:143:99:1522,0,2179 1 53732315 53732315 G T exonic LRP8 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 0.34 0.2 0.28 0.63 0.4 0.18 0.3798 0.2258 0.3675 0.6444 0.4368 0.4124 0.3535 0.1936 0.34 0.23 0.4 0.32 0.29 rs2297660 COSM3751298 3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3826 0.2246 0.3740 0.3260 0.6440 0.4424 0.4121 0.3673 0.1943 0.3731 0.2256 0.3589 0.3146 0.6310 0.4355 0.4186 0.3699 het 1708.18 152 1 53732315 . G T 1708.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.379;DP=152;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8254;MQ=59.60;MQ0=0;MQRankSum=-0.069;QD=11.24;ReadPosRankSum=0.954;VQSLOD=6.0309;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,68:152:99:1738,0,2297 1 53792651 53792651 A C exonic LRP8 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 0.55 0.93 0.3 0.48 0.39 0.45 0.4121 0.8458 0.2372 0.4424 0.3867 0.3676 0.4343 0.4338 0.52 0.82 0.36 0.69 0.42 rs3820198 COSM3722413 2(thyroid);2(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.076 T 0.0 0.067 B 0.0 0.040 B . . . 1.000 0.810 P -0.105 0.046 N -3.61 0.950 D 0.71 0.035 N 0.031 0.029 -0.940 0.427 T 0.000 0.000 T . . . -1.028 0.031 0.014 0.617 0.066 0.043 0.098 N c -1.606 -1.545 1.000 0.747 0.442 0.072 0 0.782 0.176 -0.363 0.076 -1.086 0.019 0.015 0.189 0.617 0.292 1.535 0.024 . ENSG00000270172.1|ENSG00000157193.10 Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts 0.3948 0.8548 0.2428 0.4015 0.4452 0.3879 0.3601 0.3794 0.4352 0.5006 0.8457 0.2852 0.3742 0.4211 0.3978 0.3560 0.3576 hom 3133.42 102 1 53792651 . A C 3133.42 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.470;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.6546;MQ=59.16;MQ0=0;MQRankSum=0.170;QD=30.72;ReadPosRankSum=-0.530;VQSLOD=7.9377;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:3,99:102:99:3166,187,0 1 54060016 54060016 G C exonic GLIS1 nonsynonymous SNV GLIS1:NM_147193:exon3:c.C560G:p.A187G 0.21 0.11 0.16 0.19 0.3 0.33 0.2893 0.1350 0.1642 0.1681 0.2673 0.3324 0.3161 0.3596 0.26 0.13 0.33 0.15 0.22 rs35227000 COSM3751299 1(thyroid);3(large_intestine) . . . . . . . . . . . 0.133 0.264 T 0.0 0.026 B 0.001 0.040 B 0.336 0.140 N 1.000 0.090 P 2.2 0.622 M 2.83 0.108 T 0.03 0.066 N 0.039 0.049 -0.904 0.476 T 0.000 0.000 T . . . 0.250 0.118 5.197 0.957 0.269 0.093 0.149 N c -0.976 -0.989 1.000 0.747 0.526 0.212 0 -1.17 0.091 0.543 0.228 0.141 0.225 0.070 0.219 0.356 0.247 5.974 0.185 . . . 0.2821 0.1225 0.1616 0.4661 0.1630 0.2614 0.3231 0.2972 0.3636 0.2466 0.1295 0.1706 0.4570 0.1463 0.2647 0.3190 0.2872 het 462.81 35 1 54060016 . G C 462.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.546;DP=35;Dels=0.00;FS=4.856;HRun=2;HaplotypeScore=0.9993;MQ=59.21;MQ0=0;MQRankSum=0.116;QD=13.22;ReadPosRankSum=-0.414;VQSLOD=5.4439;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:19,16:35:99:493,0,545 1 54060248 54060248 T C exonic GLIS1 nonsynonymous SNV GLIS1:NM_147193:exon3:c.A328G:p.T110A 0.21 0.11 0.16 0.19 0.3 0.34 0.2853 0.1239 0.1595 0.1642 0.2620 0.3240 0.3082 0.3929 0.24 0.11 0.31 0.18 0.25 rs4307514 . . . . . . . . . . . . . 0.182 0.218 T 0.0 0.026 B 0.0 0.013 B 0.059 0.224 N 1 0.090 P 0 0.065 N 3.01 0.091 T 0.15 0.053 N 0.004 0.000 -0.910 0.469 T 0.000 0.000 T . . . -1.345 0.021 0.004 0.624 0.068 0.680 0.334 D c -1.203 -1.056 0.173 0.178 0.497 0.185 0 1.81 0.240 1.307 0.329 -0.269 0.086 0.984 0.356 0.197 0.217 5.501 0.160 . . . 0.2798 0.1193 0.1590 0.4597 0.1634 0.2599 0.3195 0.2901 0.3715 0.2457 0.1284 0.1706 0.4503 0.1475 0.2635 0.3180 0.2853 het 690.22 57 1 54060248 . T C 690.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.087;DP=57;Dels=0.00;FS=7.380;HRun=1;HaplotypeScore=0.0000;MQ=57.69;MQ0=1;MQRankSum=0.544;QD=12.11;ReadPosRankSum=1.829;VQSLOD=3.6359;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,25:57:99:720,0,746 1 54272121 54272121 T C exonic NDC1 nonsynonymous SNV NDC1:NM_001168551:exon9:c.A841G:p.S281G,NDC1:NM_018087:exon9:c.A961G:p.S321G . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.031 0.450 D 0.923 0.492 P 0.519 0.463 P 0.000 0.559 D 0.803 0.810 D 2.28 0.651 M 0.8 0.488 T -2.21 0.496 N 0.258 0.314 -0.743 0.583 T 0.144 0.467 T 0.033 0.548 D 4.042 0.543 23.7 0.996 0.745 0.686 0.336 D c 0.311 0.324 0.001 0.083 0.707 0.730 0 3.89 0.439 3.409 0.522 1.011 0.635 1.000 0.715 0.983 0.502 10.742 0.452 . . . . . . . . . . . . . . . . . . . . het 1252.90 91 1 54272121 . T C 1252.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.276;DP=91;Dels=0.00;FS=4.109;HRun=1;HaplotypeScore=0.9958;MQ=58.29;MQ0=0;MQRankSum=1.124;QD=13.77;ReadPosRankSum=0.095;VQSLOD=3.7113;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,54:91:99:1283,0,887 1 54605319 54605319 - C exonic CDCP2 frameshift insertion CDCP2:NM_201546:exon4:c.1223_1224insG:p.M409Hfs*44 0.48 0.36 0.66 0.39 0.65 0.43 0.6984 0.5965 0.7315 0.6180 0.7102 0.7214 0.7037 0.6507 . . . 0.48 0.18 rs36013100 COSM291917 1(oesophagus);1(thyroid);1(large_intestine);6(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7025 0.5773 0.7341 0.7177 0.6221 0.7044 0.7266 0.7123 0.6465 0.6907 0.5822 0.7289 0.6844 0.6332 0.6983 0.7389 0.7255 hom 3111.14 75 1 54605319 . G GC 3111.14 Mask AC=2;AF=1.00;AN=2;DP=75;FS=0.000;HRun=0;HaplotypeScore=149.7287;MQ=61.47;MQ0=0;QD=41.48;set=variant2 GT:AD:DP:GQ:PL 1/1:0,75:75:99:3153,226,0 1 54606804 54606804 C T exonic CDCP2 nonsynonymous SNV CDCP2:NM_201546:exon3:c.G730A:p.G244R 0.82 0.77 0.79 0.87 0.85 0.84 0.8286 0.7761 0.8163 0.8896 0.7689 0.8379 0.7955 0.8252 0.82 0.78 0.85 0.76 0.8 rs3766465 . . . . . . . . . . . . . 0.164 0.233 T 0.999 0.764 D 0.934 0.652 D 0.011 0.298 N 0.000 0.588 P 1.19 0.302 L 2.32 0.166 T -1.8 0.424 N 0.215 0.264 -1.107 0.033 T 0.000 0.000 T . . . 6.141 0.847 28.4 0.999 0.995 0.986 0.844 D c 0.699 0.729 1.000 0.747 0.487 0.133 0 5.57 0.840 7.518 0.806 0.935 0.490 1.000 0.715 0.980 0.490 19.547 0.953 CUB domain . . 0.8281 0.7698 0.8209 0.8804 0.8923 0.7660 0.8391 0.8224 0.8267 0.8160 0.7647 0.8294 0.8543 0.9044 0.7610 0.8470 0.8224 het 1173.92 97 1 54606804 . C T 1173.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.134;DP=97;Dels=0.00;FS=8.447;HRun=0;HaplotypeScore=1.9198;MQ=59.18;MQ0=0;MQRankSum=0.720;QD=12.10;ReadPosRankSum=-1.109;VQSLOD=4.8601;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,45:97:99:1204,0,1238 1 54607051 54607051 A G exonic CDCP2 synonymous SNV CDCP2:NM_201546:exon3:c.T483C:p.Y161Y 1. 0.99 1. 1. 1. 1. 0.9992 0.9911 0.9998 1 1 1.0000 1 1 1. 0.99 1. 1. 0.98 rs671103 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9993 0.9899 0.9996 1 1 1 1.0000 0.9998 1 0.9963 0.9870 1 1 1 1 0.9999 1 hom 1668.86 56 1 54607051 . A G 1668.86 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.5784;MQ=60.00;MQ0=0;QD=29.80;VQSLOD=8.2559;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1702,135,0 1 54681920 54681920 G C exonic MRPL37 nonsynonymous SNV MRPL37:NM_001330602:exon6:c.G1097C:p.C366S,MRPL37:NM_016491:exon6:c.G1097C:p.C366S 0.58 0.61 0.64 0.4 0.79 0.47 0.6806 0.6441 0.6120 0.4196 0.7038 0.7749 0.6960 0.4965 0.74 0.66 0.78 0.65 0.81 rs13571 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.067 B 0.0 0.013 B 0.002 0.384 N 1 0.090 P -2.89 0.000 N 2.5 0.144 T 3.24 0.001 N 0.022 0.241 -0.990 0.325 T 0.000 0.000 T . . . -0.922 0.035 0.023 0.229 0.009 0.055 0.112 N c -0.886 -0.808 0.998 0.362 0.707 0.730 0 5.38 0.772 2.140 0.415 0.067 0.174 0.041 0.208 0.015 0.124 16.303 0.826 . ENSG00000116221.11|ENSG00000116221.11 Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg 0.6778 0.6414 0.6205 0.7865 0.4181 0.7046 0.7741 0.7085 0.4944 0.6977 0.6433 0.6516 0.7848 0.3902 0.7022 0.7620 0.7016 het 1416.18 118 1 54681920 . G C 1416.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.240;DP=118;Dels=0.00;FS=0.747;HRun=0;HaplotypeScore=1.6828;MQ=59.61;MQ0=0;MQRankSum=-0.797;QD=12.00;ReadPosRankSum=1.584;VQSLOD=5.8953;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,49:118:99:1446,0,2099 1 54683856 54683856 C G exonic MRPL37 synonymous SNV MRPL37:NM_016491:exon7:c.C1206G:p.G402G 0.41 0.35 0.35 0.59 0.21 0.53 0.3170 0.3273 0.3875 0.5769 0.2974 0.2254 0.3029 0.5034 0.25 0.31 0.22 0.34 0.19 rs15921 COSM1162165 1(haematopoietic_and_lymphoid_tissue);2(pancreas) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3201 0.3304 0.3785 0.2135 0.5775 0.2960 0.2260 0.2906 0.5054 0.2923 0.3230 0.3449 0.2152 0.6027 0.2978 0.2376 0.3004 het 2110.98 249 1 54683856 . C G 2110.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.723;DP=249;DS;Dels=0.00;FS=5.456;HRun=2;HaplotypeScore=7.0638;MQ=59.07;MQ0=0;MQRankSum=0.866;QD=8.48;ReadPosRankSum=0.055;VQSLOD=3.9462;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:159,89:249:99:2141,0,4287 1 55064970 55064970 C T exonic ACOT11 nonsynonymous SNV ACOT11:NM_015547:exon8:c.C766T:p.R256W,ACOT11:NM_147161:exon8:c.C766T:p.R256W 0.0036 . 0.0072 . 0.011 0.002 0.0133 0.0028 0.0031 0 0.0195 0.0200 0.0079 0.0043 0.015 0.0036 0.02 . 0.016 rs148238018 . . . . . . . . . . . . . 0.0 0.912 D 1.0 0.899 D 1.0 0.971 D 0.000 0.843 D 1 0.810 D 3.845 0.958 H 1.82 0.250 T -6.11 0.900 D 0.374 0.547 -0.430 0.711 T 0.152 0.482 T . . . 8.019 0.957 35 0.999 0.989 0.986 0.847 D c 0.916 0.822 1.000 0.747 0.646 0.450 0 5.27 0.737 7.674 0.830 0.870 0.379 1.000 0.715 0.701 0.310 18.886 0.923 HotDog domain|Hotdog acyl-CoA thioesterase (ACOT)-type domain|Thioesterase domain . . 0.0128 0.0026 0.0049 0.0099 6.101e-05 0.0192 0.0196 0.0141 0.0048 0.0132 0.0031 0.0042 0.0101 0 0.0194 0.0197 0.0162 het 2634.17 166 1 55064970 . C T 2634.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.368;DP=166;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7861;MQ=59.44;MQ0=0;MQRankSum=-0.686;QD=15.87;ReadPosRankSum=1.184;VQSLOD=4.2595;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:72,94:166:99:2664,0,1948 1 55075452 55075452 G A exonic FAM151A nonsynonymous SNV FAM151A:NM_176782:exon8:c.C1247T:p.A416V 0.3 0.2 0.36 0.18 0.54 0.29 0.4116 0.2352 0.2571 0.1752 0.4447 0.5141 0.4053 0.3280 0.43 0.25 0.52 0.25 0.4 rs1368883 . . . . . . . . . . . . . 0.317 0.137 T 0.12 0.251 B 0.045 0.231 B 0.268 0.152 N 1 0.090 P 0.81 0.209 L 2.78 0.113 T -0.76 0.212 N 0.055 0.037 -0.962 0.388 T 0.000 0.000 T . . . 0.784 0.169 9.364 0.700 0.089 0.049 0.105 N c -0.794 -0.841 0.995 0.338 0.653 0.482 0 2.26 0.273 0.211 0.171 -0.215 0.099 0.000 0.063 0.001 0.043 7.210 0.249 . ENSG00000162390.13|ENSG00000184313.15|ENSG00000184313.15|ENSG00000271723.1|ENSG00000184313.15|ENSG00000271723.1|ENSG00000184313.15|ENSG00000184313.15|ENSG00000271723.1 Esophagus_Mucosa|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Stomach|Thyroid|Thyroid 0.4072 0.2323 0.2682 0.4868 0.1704 0.4511 0.5164 0.4363 0.3283 0.4090 0.2399 0.3103 0.4833 0.1704 0.4605 0.5220 0.4611 het 461.40 54 1 55075452 . G A 461.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.962;DP=54;Dels=0.00;FS=5.765;HRun=0;HaplotypeScore=0.9995;MQ=59.65;MQ0=0;MQRankSum=0.472;QD=8.54;ReadPosRankSum=0.472;VQSLOD=5.3859;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,23:54:99:491,0,844 1 55119289 55119289 G C exonic MROH7 synonymous SNV MROH7:NM_001039464:exon3:c.G690C:p.L230L 0.42 0.27 0.41 0.52 0.59 0.35 0.5070 0.3241 0.3432 0.5385 0.5784 0.5849 0.4833 0.3718 0.52 0.37 0.59 0.4 0.55 rs9332417 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5047 0.3178 0.3520 0.5231 0.5373 0.5924 0.5876 0.5261 0.3726 0.5097 0.3299 0.3914 0.5199 0.5174 0.5956 0.5970 0.5481 het 1545.82 122 1 55119289 . G C 1545.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.482;DP=122;Dels=0.00;FS=0.678;HRun=0;HaplotypeScore=1.9153;MQ=58.78;MQ0=0;MQRankSum=1.180;QD=12.67;ReadPosRankSum=0.380;VQSLOD=6.5074;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:65,57:122:99:1576,0,1699 1 55119534 55119534 C T exonic MROH7 nonsynonymous SNV MROH7:NM_001039464:exon3:c.C935T:p.S312F 0.1 0.086 0.14 0.002 0.22 0.082 0.1782 0.1085 0.1155 0.0005 0.1875 0.2358 0.1956 0.1192 0.2 0.11 0.24 0.17 0.2 rs17399810 COSM3751309;COSM3751307;COSM3751308 1(large_intestine) . . . . . . . . . . . 0.028 0.469 D 0.998 0.899 D 0.971 0.807 D 0.520 0.117 N 1 0.403 P 0.975 0.246 L 3.47 0.052 T -2.02 0.495 N 0.145 0.179 -0.920 0.456 T 0.000 0.000 T . . . 4.327 0.579 24.0 0.997 0.819 0.130 0.174 N c -0.023 -0.192 1.000 0.446 0.516 0.203 0 3.89 0.439 2.007 0.403 0.935 0.490 0.134 0.232 0.004 0.083 11.667 0.505 . . . 0.1779 0.1087 0.1192 0.2130 0.0005 0.1958 0.2417 0.1886 0.1181 0.1869 0.1073 0.1265 0.2086 0.0006 0.1971 0.2527 0.2067 het 4089.62 247 1 55119534 . C T 4089.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.838;DP=247;DS;Dels=0.00;FS=3.608;HRun=1;HaplotypeScore=8.5904;MQ=58.93;MQ0=0;MQRankSum=0.158;QD=16.56;ReadPosRankSum=-0.635;VQSLOD=4.2202;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:120,127:247:99:3460,0,3248 1 55119546 55119546 A G exonic MROH7 nonsynonymous SNV MROH7:NM_001039464:exon3:c.A947G:p.E316G 0.95 0.83 0.99 1. 1. 1. 0.9873 0.8614 0.9935 1 1 0.9986 0.9956 0.9999 0.96 0.88 1. 0.92 1. rs1655518 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.483 0.050 N 1 0.090 P -0.895 0.014 N 3.68 0.042 T 0.68 0.022 N 0.057 0.040 -0.993 0.319 T 0.000 0.000 T . . . -1.290 0.022 0.005 0.066 0.000 0.001 0.004 N c -1.617 -1.562 0.964 0.287 0.516 0.203 0 0.747 0.174 -0.090 0.110 -0.816 0.031 0.000 0.063 0.000 0.016 0.925 0.012 . . . 0.9889 0.8572 0.9923 0.9856 1 1 0.9991 0.9927 0.9997 0.9615 0.8666 0.9928 0.9901 1 1 0.9991 0.9929 hom 8205.93 247 1 55119546 . A G 8205.93 Mask AC=2;AF=1.00;AN=2;DP=247;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6165;MQ=59.11;MQ0=0;QD=33.22;VQSLOD=7.2363;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,245:247:99:8179,638,0 1 55134585 55134585 A G exonic MROH7 nonsynonymous SNV MROH7:NM_001039464:exon5:c.A1364G:p.K455R 0.033 0.041 0.037 0.018 0.031 0.036 0.0242 0.0315 0.0161 0.0175 0.0085 0.0229 0.0311 0.0402 0.025 0.031 0.022 0.011 0.0082 rs2304314 . . . . . . . . . . . . . 0.039 0.599 D 0.998 0.715 D 0.942 0.713 D 0.014 0.286 N 1 0.810 D 3.175 0.890 M 3.25 0.068 T -1.09 0.283 N 0.176 0.244 -1.219 0.001 T 0.010 0.035 T . . . 5.090 0.686 25.3 0.956 0.266 0.686 0.336 D c 0.463 0.425 0.002 0.093 0.534 0.214 0 4.17 0.481 2.600 0.457 1.199 0.960 1.000 0.715 0.948 0.423 9.376 0.373 . . . 0.0240 0.0301 0.0176 0.0468 0.0165 0.0084 0.0222 0.0254 0.0428 0.0217 0.0287 0.0251 0.0596 0.0186 0.0083 0.0201 0.0236 het 2271.17 159 1 55134585 . A G 2271.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.083;DP=159;Dels=0.00;FS=2.171;HRun=1;HaplotypeScore=8.6346;MQ=57.90;MQ0=0;MQRankSum=1.169;QD=14.28;ReadPosRankSum=0.182;VQSLOD=4.2528;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:71,88:159:99:2301,0,1956 1 55139741 55139741 A G exonic MROH7 nonsynonymous SNV MROH7:NM_001291332:exon8:c.A407G:p.H136R,MROH7:NM_001039464:exon10:c.A1853G:p.H618R 0.91 0.93 0.86 1. 0.8 0.94 0.8441 0.9103 0.8978 0.9997 0.8471 0.7850 0.84 0.9236 0.83 0.91 0.79 0.85 0.79 rs570218 COSM3747020;COSM3747021;COSM3747022 1(liver) . . . . . . . . . . . 1.0 0.035 T 0.0 0.026 B 0.0 0.013 B 0.004 0.339 N 1.000 0.191 P -2.42 0.001 N 4.76 0.016 T 2.41 0.004 N 0.088 0.094 -1.010 0.269 T 0.000 0.000 T . . . 0.829 0.173 9.639 0.388 0.026 0.007 0.030 N c -0.901 -0.590 0.001 0.074 0.487 0.133 0 4.65 0.575 3.108 0.498 0.070 0.177 0.996 0.391 0.988 0.529 9.028 0.352 Armadillo-type fold . . 0.8448 0.9091 0.8924 0.8217 0.9996 0.8404 0.7794 0.8313 0.9243 0.8386 0.9098 0.8747 0.8344 1 0.8428 0.7774 0.8276 het 2205.82 186 1 55139741 . A G 2205.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.697;DP=186;Dels=0.00;FS=1.862;HRun=0;HaplotypeScore=1.8455;MQ=60.00;MQ0=0;MQRankSum=-0.027;QD=11.86;ReadPosRankSum=-1.779;VQSLOD=6.0180;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:95,91:186:99:2236,0,2405 1 55166842 55166842 C T exonic MROH7 synonymous SNV MROH7:NM_001291332:exon17:c.C1686T:p.P562P,MROH7:NM_001039464:exon19:c.C3132T:p.P1044P 0.25 0.26 0.22 0.11 0.32 0.32 0.2815 0.2719 0.1602 0.1009 0.3239 0.3146 0.2763 0.3165 0.29 0.26 0.3 0.29 0.3 rs1065173 COSM1126984;COSM1126986;COSM3747024 1(breast);1(liver);1(prostate);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2764 0.2709 0.1627 0.2583 0.0984 0.3258 0.3175 0.2884 0.3224 0.2854 0.2707 0.2010 0.3013 0.0821 0.3325 0.3093 0.2857 het 1117.99 90 1 55166842 . C T 1117.99 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.743;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9933;MQ=58.89;MQ0=0;MQRankSum=0.792;QD=12.42;ReadPosRankSum=-0.186;VQSLOD=6.0696;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,43:90:99:1148,0,1241 1 55167773 55167773 T A exonic MROH7 nonsynonymous SNV MROH7:NM_001291332:exon18:c.T1850A:p.V617D,MROH7:NM_001039464:exon20:c.T3296A:p.V1099D 0.92 0.99 0.93 0.94 0.83 0.89 0.8727 0.9710 0.9420 0.9364 0.8334 0.8398 0.8529 0.8821 0.88 0.97 0.83 0.96 0.86 rs646356 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.888 0.073 N 1.000 0.090 P -2.14 0.001 N 1.53 0.304 T 3.73 0.001 N 0.175 0.213 -0.985 0.338 T 0.000 0.000 T . . . 0.007 0.094 2.650 0.266 0.013 0.005 0.025 N c -1.512 -1.332 0.000 0.060 0.554 0.246 0 2.63 0.303 0.595 0.236 -0.250 0.090 0.294 0.250 0.003 0.074 5.071 0.138 Armadillo-like helical|Armadillo-type fold . . 0.8728 0.9753 0.9356 0.8604 0.9392 0.8314 0.8386 0.8658 0.8792 0.8744 0.9695 0.9332 0.8633 0.9400 0.8325 0.8215 0.8296 het 702.75 64 1 55167773 . T A 702.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.764;DP=64;Dels=0.00;FS=0.971;HRun=0;HaplotypeScore=0.7340;MQ=59.64;MQ0=0;MQRankSum=-0.901;QD=10.98;ReadPosRankSum=2.181;VQSLOD=5.4086;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,30:64:99:733,0,840 1 55223992 55223992 G A exonic PARS2 synonymous SNV PARS2:NM_152268:exon2:c.C843T:p.N281N 0.0028 . 0.0029 . 0.007 0.0051 0.0051 0.0012 0.0011 0 0.0151 0.0065 0.0066 0.0031 0.0049 0.002 0.0064 . . rs145005088 . . Benign not_specified RCV000444632.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0050 0.0010 0.0016 0.0078 0 0.0138 0.0058 0.0062 0.0029 0.0049 0.0009 0.0024 0.0066 0 0.0140 0.0054 0.0112 het 1606.78 140 1 55223992 . G A 1606.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.213;DP=140;Dels=0.00;FS=11.945;HRun=0;HaplotypeScore=5.1868;MQ=59.80;MQ0=0;MQRankSum=-0.142;QD=11.48;ReadPosRankSum=-0.929;VQSLOD=2.3653;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:77,63:140:99:1637,0,2252 1 55251689 55251689 T C exonic TTC22 synonymous SNV TTC22:NM_001114108:exon5:c.A987G:p.E329E,TTC22:NM_017904:exon5:c.A987G:p.E329E 1. 1. 1. 1. 1. 1. 0.9993 0.9926 0.9991 1 1 1 0.9989 1 1. 0.99 1. 1. 1. rs586462 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9995 0.9929 0.9995 1 1 1 1 0.9993 1 0.9975 0.9914 1 1 1 1 1 0.9990 hom 2906.47 83 1 55251689 . T C 2906.47 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8675;MQ=59.16;MQ0=0;QD=35.02;VQSLOD=8.7032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2939,229,0 1 55266797 55266797 G C exonic TTC22 nonsynonymous SNV TTC22:NM_001114108:exon1:c.C40G:p.L14V,TTC22:NM_017904:exon1:c.C40G:p.L14V 0.15 0.026 0.23 0.26 0.24 0.071 0.1988 0.0583 0.2030 0.2903 0.2455 0.2280 0.2190 0.0948 0.15 0.057 0.2 0.087 0.16 rs671108 COSM3751313;COSM3751312 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . 0.0 0.912 D 0.999 0.764 D 0.987 0.807 D 0.000 0.629 D 0.000 0.506 P 2.28 0.651 M 0.17 0.608 T -0.66 0.191 N 0.181 0.221 -1.148 0.011 T 0.000 0.000 T . . . 3.634 0.494 23.2 0.994 0.648 0.769 0.375 D c 0.514 0.456 1.000 0.747 0.598 0.340 0 4.13 0.475 1.990 0.401 0.923 0.433 1.000 0.715 0.988 0.529 15.674 0.770 . ENSG00000162398.7|ENSG00000162398.7 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.1968 0.0521 0.1999 0.2177 0.2895 0.2351 0.2190 0.2155 0.0954 0.1651 0.0541 0.1842 0.2086 0.3150 0.2460 0.1918 0.1810 het 440.62 51 1 55266797 . G C 440.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.117;DP=51;Dels=0.00;FS=1.144;HRun=0;HaplotypeScore=2.8127;MQ=58.44;MQ0=0;MQRankSum=0.160;QD=8.64;ReadPosRankSum=-1.259;VQSLOD=5.2392;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:31,20:51:99:471,0,900 1 55277599 55277599 T C exonic LEXM nonsynonymous SNV LEXM:NM_001110533:exon5:c.T613C:p.Y205H,LEXM:NM_152607:exon5:c.T613C:p.Y205H 1. 1. 1. 1. 1. 1. 1.0000 0.9995 1 1 1 1.0000 1 1 1. 1. 1. 1. 1. rs600499 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1.0000 0.9995 1 1 1 1 1 1 1 0.9999 0.9998 1 1 1 1 1 1 hom 3438.46 107 1 55277599 . T C 3438.46 Mask AC=2;AF=1.00;AN=2;DP=107;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6722;MQ=58.64;MQ0=0;QD=32.14;VQSLOD=8.4442;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,107:107:99:3438,271,0 1 55523033 55523033 A G exonic PCSK9 synonymous SNV PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q 0.98 0.93 1. 1. 1. 1. 0.9945 0.9420 0.9982 1 0.9997 0.9996 0.9956 0.9999 0.98 0.94 1. 0.96 1. rs509504 . . Benign|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000249882.2|RCV000256296.2|RCV000337265.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9958 0.9412 0.9974 1 1 0.9999 0.9997 0.9982 0.9999 0.9829 0.9397 0.9976 1 1 1 1 1 hom 4635.56 144 1 55523033 . A G 4635.56 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.1527;MQ=59.10;MQ0=0;QD=32.19;VQSLOD=7.0055;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4635,370,0 1 55524197 55524197 A G exonic PCSK9 synonymous SNV PCSK9:NM_174936:exon9:c.A1380G:p.V460V 0.87 0.77 0.89 0.99 0.82 0.91 0.8544 0.7851 0.9245 0.9914 0.8257 0.8326 0.8794 0.8751 0.82 0.79 0.83 0.86 0.86 rs540796 COSM3747025 1(liver) Benign|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000182574.3|RCV000256294.2|RCV000273530.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8564 0.7858 0.9148 0.8146 0.9923 0.8273 0.8316 0.8674 0.8739 0.8316 0.7927 0.9069 0.8245 0.9988 0.8171 0.8337 0.8582 hom 4298.01 144 1 55524197 . A G 4298.01 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.2135;MQ=58.86;MQ0=0;QD=29.85;VQSLOD=9.0514;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4297,331,0 1 55524237 55524237 G A exonic PCSK9 nonsynonymous SNV PCSK9:NM_174936:exon9:c.G1420A:p.V474I 0.87 0.77 0.89 0.99 0.82 0.9 0.8544 0.7853 0.9244 0.9914 0.8255 0.8327 0.8794 0.8751 0.82 0.79 0.83 0.83 0.84 rs562556 COSM3722998 1(thyroid);1(upper_aerodigestive_tract) Benign|other|Likely benign not_specified|Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia RCV000182572.3|RCV000256256.2|RCV000330942.1 MedGen|MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen:Orphanet:SNOMED_CT CN169374|C0020445:143890:397915002:398036000|C1862596:ORPHA426:60193003 . . . . . . 0.412 0.101 T 0.013 0.154 B 0.002 0.063 B 0.007 0.012 N 1 0.090 P 1.555 0.395 L -0.52 0.707 T -0.27 0.114 N 0.043 0.023 -0.970 0.373 T 0.000 0.000 T . . . -1.303 0.022 0.004 0.829 0.140 0.055 0.112 N c -1.808 -1.932 1.000 0.747 0.706 0.609 0 -8.95 0.007 -0.619 0.056 -2.003 0.005 0.000 0.063 0.000 0.016 3.846 0.084 . ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8564 0.7858 0.9147 0.8146 0.9923 0.8273 0.8316 0.8674 0.8738 0.8315 0.7928 0.9069 0.8245 0.9988 0.8170 0.8334 0.8571 hom 2609.38 84 1 55524237 . G A 2609.38 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3888;MQ=58.89;MQ0=0;QD=31.06;VQSLOD=8.9310;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2642,223,0 1 55529187 55529187 G A exonic PCSK9 nonsynonymous SNV PCSK9:NM_174936:exon12:c.G2009A:p.G670E 0.9 0.71 0.96 0.96 0.97 0.97 0.9433 0.7414 0.9754 0.9460 0.9444 0.9603 0.9553 0.9753 0.89 0.74 0.96 0.77 0.84 rs505151 . . other|Benign|Likely benign Familial_hypercholesterolemia|not_specified|Familial_hypobetalipoproteinemia RCV000030349.2|RCV000252382.2|RCV000364880.1 MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen|MedGen:Orphanet:SNOMED_CT C0020445:143890:397915002:398036000|CN169374|C1862596:ORPHA426:60193003 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.339 0.140 N 1 0.090 P -2.34 0.001 N -0.35 0.686 T 0.52 0.029 N 0.02 0.004 -0.976 0.359 T 0.000 0.000 T . . . -1.402 0.019 0.003 0.586 0.059 0.010 0.038 N c -1.609 -1.587 1.000 0.405 0.706 0.609 0 0.348 0.152 0.938 0.284 0.188 0.248 0.003 0.159 0.001 0.043 4.570 0.115 . . . 0.9481 0.7361 0.9728 0.9461 0.9480 0.9464 0.9621 0.9565 0.9757 0.8930 0.7349 0.9761 0.9437 0.9427 0.9485 0.9569 0.9532 hom 2378.82 78 1 55529187 . G A 2378.82 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7249;MQ=58.58;MQ0=0;QD=30.50;VQSLOD=8.7871;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2412,193,0 1 55541174 55541174 A G exonic USP24 nonsynonymous SNV USP24:NM_015306:exon63:c.T7403C:p.V2468A 0.69 0.26 0.85 0.92 0.77 0.85 0.7697 0.3596 0.8929 0.9040 0.7798 0.7696 0.7990 0.8326 0.64 0.36 0.77 0.64 . rs487230 COSM3747027;COSM3747026 1(liver) . . . . . . . . . . . 0.367 0.116 T 0.0 0.026 B 0.001 0.040 B 0.001 0.431 D 0.695 0.301 P 0.49 0.133 N 4.45 0.022 T -0.4 0.138 N 0.217 0.266 -1.024 0.222 T 0.000 0.000 T . . . 1.608 0.255 13.90 0.982 0.383 0.952 0.637 D c -0.420 -0.175 0.866 0.253 0.732 0.924 0 4.22 0.490 5.115 0.643 1.199 0.960 1.000 0.715 0.998 0.697 11.412 0.490 . ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.7669 0.3073 0.8767 0.7234 0.9074 0.7706 0.7606 0.7961 0.8240 0.6462 0.3206 0.8628 0.7318 0.9105 0.7738 0.7544 0.7862 hom 466.35 19 1 55541174 . A G 466.35 Mask AC=2;AF=1.00;AN=2;DP=19;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=56.74;MQ0=0;QD=24.54;VQSLOD=7.6237;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,19:19:36.12:499,36,0 1 55638075 55638075 G A exonic USP24 nonsynonymous SNV USP24:NM_015306:exon4:c.C677T:p.T226I 0.91 0.87 0.92 0.99 0.84 0.93 0.8763 0.8657 0.9395 0.9952 0.8756 0.8457 0.9004 0.8990 0.85 0.87 0.84 0.91 . rs1165222 COSM3747031;COSM3747030 1(liver) . . . . . . . . . . . 0.669 0.046 T 0.0 0.026 B 0.0 0.013 B 0.125 0.188 N 1.000 0.090 P -1.39 0.006 N 4.43 0.022 T 0.47 0.031 N 0.025 0.007 -0.996 0.309 T 0.000 0.000 T . . . 1.469 0.239 13.15 0.737 0.101 0.400 0.261 N c -0.681 -0.448 0.001 0.082 0.732 0.924 0 2.19 0.268 2.994 0.489 -0.166 0.106 0.998 0.411 0.995 0.604 9.352 0.371 . ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8|ENSG00000162402.8 Adipose_Subcutaneous|Artery_Tibial|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid 0.8773 0.8662 0.9290 0.8180 0.9959 0.8774 0.8444 0.8845 0.8967 0.8669 0.8613 0.9211 0.8278 0.9969 0.8703 0.8517 0.8880 hom 853.18 28 1 55638075 . G A 853.18 Mask AC=2;AF=1.00;AN=2;DP=28;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.47;VQSLOD=14.1445;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,28:28:69.22:886,69,0 1 57340727 57340727 C A exonic C8A nonsynonymous SNV C8A:NM_000562:exon3:c.C277A:p.Q93K 0.34 0.18 0.25 0.5 0.34 0.48 0.3684 0.2120 0.2106 0.4553 0.3488 0.3787 0.3850 0.4968 0.32 0.21 0.38 0.34 0.34 rs652785 COSM4417048 1(haematopoietic_and_lymphoid_tissue) Benign|Benign COMPLEMENT_COMPONENT_8\x2c_ALPHA_SUBUNIT\x2c_A/B_POLYMORPHISM|not_specified RCV000018567.2|RCV000455609.1 MedGen CN169374 . . . . . . 0.639 0.050 T 0.048 0.207 B 0.012 0.149 B 0.481 0.122 N 1 0.090 P -0.255 0.038 N -0.91 0.750 T -0.91 0.245 N 0.065 0.051 -0.991 0.323 T 0.000 0.000 T . . . -0.648 0.047 0.096 0.654 0.075 0.045 0.100 N c -0.612 -0.599 0.937 0.272 0.487 0.133 0 3.42 0.381 0.033 0.135 0.935 0.490 0.000 0.063 0.333 0.243 10.121 0.416 Growth factor receptor cysteine-rich domain . . 0.3654 0.2046 0.2100 0.4077 0.4640 0.3495 0.3822 0.3583 0.4983 0.3259 0.2097 0.2231 0.4133 0.4590 0.3321 0.3796 0.3602 het 869.26 75 1 57340727 . C A 869.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.922;DP=75;Dels=0.00;FS=0.883;HRun=2;HaplotypeScore=0.0000;MQ=57.74;MQ0=0;MQRankSum=-0.496;QD=11.59;ReadPosRankSum=0.838;VQSLOD=4.8421;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:42,33:75:99:899,0,1158 1 57395228 57395228 G A exonic C8B nonsynonymous SNV C8B:NM_000066:exon12:c.C1625T:p.T542I,C8B:NM_001278543:exon13:c.C1469T:p.T490I,C8B:NM_001278544:exon13:c.C1439T:p.T480I 0.0026 0.0015 0.0029 . 0.006 0.0031 0.0050 0.0012 0.0028 0 0.0018 0.0077 0.0066 0.0021 0.0068 0.0018 0.0094 . . rs61737417 . . . . . . . . . . . . . 0.894 0.099 T 0.0 0.026 B 0.0 0.013 B 0.253 0.155 N 1 0.090 N -0.955 0.012 N 1.82 0.276 T -0.39 0.170 N 0.042 0.162 -1.038 0.178 T 0.018 0.077 T 0.003 0.053 T -0.850 0.038 0.033 0.045 0.000 0.007 0.029 N c -1.134 -1.071 0.002 0.089 0.487 0.133 0 3.75 0.421 2.202 0.421 0.244 0.267 0.139 0.233 0.032 0.149 2.259 0.038 . . . 0.0050 0.0012 0.0034 0.0005 0 0.0021 0.0087 0.0035 0.0020 0.0052 0.0011 0.0060 0 0 0.0017 0.0089 0.0061 het 1062.01 85 1 57395228 . G A 1062.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.765;DP=85;Dels=0.00;FS=4.328;HRun=0;HaplotypeScore=0.9665;MQ=59.73;MQ0=0;MQRankSum=-1.114;QD=12.49;ReadPosRankSum=1.730;VQSLOD=4.8496;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,45:85:99:1092,0,996 1 57422484 57422484 C T exonic C8B nonsynonymous SNV C8B:NM_000066:exon3:c.G349A:p.G117R,C8B:NM_001278543:exon4:c.G193A:p.G65R,C8B:NM_001278544:exon4:c.G163A:p.G55R 0.99 1. 0.97 1. 0.97 0.99 0.9773 0.9937 0.9774 0.9999 0.9835 0.9683 0.9703 0.9896 0.98 0.99 0.97 0.97 0.95 rs1013579 . . . . . . . . . . . . . 1.0 0.024 T 0.0 0.026 B 0.0 0.013 B 0.014 0.286 N 1.000 0.182 P . . . 1.89 0.267 T 2.86 0.002 N 0.173 0.210 -0.949 0.412 T 0.000 0.000 T . . . 1.761 0.273 14.76 0.531 0.048 0.104 0.157 N c -0.712 -0.587 0.254 0.187 0.487 0.133 0 -0.165 0.126 0.950 0.285 0.154 0.240 1.000 0.715 0.981 0.494 10.316 0.427 . . . 0.9774 0.9946 0.9760 0.9735 0.9999 0.9818 0.9687 0.9655 0.9896 0.9785 0.9945 0.9821 0.9702 1 0.9794 0.9666 0.9786 hom 8583.55 250 1 57422484 . C T 8583.55 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.5488;MQ=59.35;MQ0=0;QD=34.33;VQSLOD=8.9905;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:8583,680,0 1 59002221 59002221 T C exonic OMA1 synonymous SNV OMA1:NM_145243:exon3:c.A693G:p.E231E 0.15 0.23 0.1 0.14 0.12 0.1 0.1183 0.1885 0.0736 0.1229 0.0938 0.1179 0.1192 0.1145 0.14 0.18 0.12 0.21 0.12 rs7537470 COSM3751322;COSM3751321 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1134 0.1926 0.0723 0.1175 0.1243 0.0967 0.1148 0.1292 0.1156 0.1331 0.1921 0.1038 0.1358 0.1180 0.0950 0.1128 0.1033 het 975.55 73 1 59002221 . T C 975.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.040;DP=73;Dels=0.00;FS=0.936;HRun=0;HaplotypeScore=1.9990;MQ=57.98;MQ0=0;MQRankSum=2.123;QD=13.36;ReadPosRankSum=0.094;VQSLOD=5.0080;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:33,40:73:99:1006,0,774 1 59002282 59002282 A C exonic OMA1 nonsynonymous SNV OMA1:NM_145243:exon3:c.T632G:p.F211C 0.045 0.0083 0.011 0.14 0.0089 0.06 0.0262 0.0085 0.0103 0.1207 0.0192 0.0133 0.0297 0.0539 0.011 0.0098 0.012 0.054 0.033 rs17117699 . . . . . . . . . . . . . 0.003 0.721 D 0.999 0.764 D 0.887 0.654 P 0.000 0.843 D 0.000 0.537 P 2.47 0.719 M 2.29 0.288 T -3.88 0.727 D 0.378 0.525 -1.105 0.035 T 0.003 0.010 T . . . 5.751 0.786 27.0 0.995 0.682 0.975 0.751 D c 0.365 0.446 0.931 0.270 0.732 0.924 0 5.49 0.809 5.636 0.673 1.197 0.919 1.000 0.715 1.000 0.888 15.778 0.779 . ENSG00000162600.7 Muscle_Skeletal 0.0264 0.0092 0.0099 0.0128 0.1226 0.0209 0.0134 0.0206 0.0551 0.0188 0.0104 0.0107 0.0166 0.1157 0.0209 0.0137 0.0132 het 1190.22 74 1 59002282 . A C 1190.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.454;DP=74;Dels=0.00;FS=3.195;HRun=0;HaplotypeScore=1.6918;MQ=58.93;MQ0=0;MQRankSum=-1.009;QD=16.08;ReadPosRankSum=1.109;VQSLOD=5.5972;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:28,46:74:99:1220,0,701 1 59004617 59004617 G A exonic OMA1 nonsynonymous SNV OMA1:NM_145243:exon2:c.C350T:p.P117L 0.042 . 0.01 0.14 0.0089 0.06 0.0257 0.0033 0.0098 0.1207 0.0191 0.0133 0.0242 0.0538 0.0089 0.003 0.012 0.054 0.025 rs17117720 . . . . . . . . . . . . . 0.005 0.632 D 0.016 0.522 B 0.007 0.438 B 0.057 0.225 N 1.000 0.186 P 1.7 0.440 L 2.47 0.336 T -1.96 0.745 N 0.136 0.319 -1.074 0.085 T 0.001 0.003 T . . . 0.879 0.178 9.940 0.606 0.063 0.040 0.092 N c -0.365 -0.427 0.000 0.071 0.707 0.730 0 4.04 0.461 -0.598 0.058 1.048 0.713 0.000 0.063 0.018 0.130 5.631 0.167 . ENSG00000162600.7 Muscle_Skeletal 0.0259 0.0041 0.0094 0.0128 0.1225 0.0209 0.0134 0.0202 0.0550 0.0167 0.0033 0.0095 0.0166 0.1146 0.0206 0.0137 0.0132 het 1776.90 141 1 59004617 . G A 1776.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.196;DP=141;Dels=0.00;FS=4.272;HRun=1;HaplotypeScore=5.2096;MQ=59.10;MQ0=0;MQRankSum=-1.069;QD=12.60;ReadPosRankSum=1.404;VQSLOD=4.4970;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:76,65:141:99:1807,0,2076 1 59042181 59042181 G T exonic TACSTD2 nonsynonymous SNV TACSTD2:NM_002353:exon1:c.C648A:p.D216E 0.16 0.34 0.053 0.14 0.05 0.11 0.0976 0.3516 0.0367 0.1247 0.0514 0.0730 0.0774 0.0948 0.15 0.31 0.067 0.17 0.082 rs14008 . . Likely benign Corneal_Dystrophy\x2c_Dominant/Recessive RCV000352006.1 MedGen CN239339 . . . . . . 0.191 0.210 T 0.057 0.214 B 0.02 0.179 B 0.037 0.244 N 0.782 0.293 P 1.015 0.255 L -1.1 0.773 T -2.52 0.547 D 0.084 0.078 -1.065 0.107 T 0.000 0.000 T . . . 1.626 0.257 14.00 0.941 0.237 0.426 0.267 N c -0.663 -0.576 1.000 0.747 0.765 0.991 0 0.165 0.142 0.002 0.129 0.884 0.388 0.989 0.365 0.955 0.433 5.126 0.141 . . . 0.0860 0.3354 0.0364 0.0915 0.1228 0.0501 0.0682 0.0667 0.0930 0.1431 0.3356 0.0406 0.0894 0.1168 0.0512 0.0672 0.0663 het 180.52 30 1 59042181 . G T 180.52 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.003;DP=30;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.966;QD=6.02;ReadPosRankSum=0.118;VQSLOD=10.4384;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,9:30:99:211,0,506 1 59127086 59127086 G A exonic MYSM1 synonymous SNV MYSM1:NM_001085487:exon18:c.C2262T:p.L754L 0.25 0.13 0.24 0.31 0.28 0.3 0.2821 0.1663 0.2917 0.2790 0.2003 0.2937 0.2709 0.3337 0.26 0.17 0.29 0.25 0.22 rs7523134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2809 0.1647 0.2878 0.3360 0.2817 0.1995 0.2933 0.2973 0.3247 0.2348 0.1666 0.2962 0.3775 0.2624 0.1981 0.2719 0.2638 het 418.07 27 1 59127086 . G A 418.07 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.080;DP=27;Dels=0.00;FS=1.599;HRun=1;HaplotypeScore=0.8321;MQ=58.27;MQ0=0;MQRankSum=0.377;QD=15.48;ReadPosRankSum=1.381;VQSLOD=5.2062;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:10,17:27:99:448,0,240 1 59142713 59142713 T C exonic MYSM1 synonymous SNV MYSM1:NM_001085487:exon9:c.A1275G:p.P425P 0.65 0.71 0.67 0.63 0.59 0.62 0.6118 0.6863 0.6487 0.6532 0.7191 0.5819 0.6111 0.5978 0.61 0.67 0.58 0.63 0.65 rs579110 COSM3751324 2(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6125 0.6879 0.6426 0.5059 0.6508 0.7163 0.5807 0.5969 0.5991 0.6555 0.6939 0.6376 0.4901 0.6714 0.7215 0.6210 0.6462 het 1844.47 175 1 59142713 . T C 1844.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.338;DP=175;Dels=0.00;FS=1.939;HRun=0;HaplotypeScore=6.7101;MQ=58.88;MQ0=0;MQRankSum=-0.626;QD=10.54;ReadPosRankSum=0.301;VQSLOD=4.6947;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:93,82:175:99:1874,0,2151 1 59147926 59147926 T C exonic MYSM1 nonsynonymous SNV MYSM1:NM_001085487:exon8:c.A790G:p.T264A 0.63 0.66 0.66 0.63 0.59 0.62 0.6078 0.6343 0.6473 0.6527 0.7204 0.5826 0.6078 0.5977 0.59 0.62 0.58 0.59 0.66 rs12139511 COSM3751325 2(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.933 0.075 N 1 0.090 P -1.61 0.004 N 2.01 0.213 T 0.11 0.057 N 0.008 0.000 -0.946 0.417 T 0.000 0.000 T . . . -1.412 0.019 0.003 0.127 0.002 0.012 0.043 N c -1.354 -1.283 0.002 0.089 0.660 0.495 0 0.948 0.186 0.227 0.174 -0.052 0.122 0.001 0.137 0.908 0.386 0.666 0.008 . ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5|ENSG00000162601.5 Artery_Aorta|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Muscle_Skeletal|Pancreas|Thyroid 0.6088 0.6348 0.6377 0.5067 0.6498 0.7171 0.5811 0.5917 0.5986 0.6411 0.6393 0.6328 0.4933 0.6714 0.7224 0.6231 0.6462 het 1584.27 146 1 59147926 . T C 1584.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.887;DP=146;Dels=0.00;FS=10.240;HRun=0;HaplotypeScore=5.5652;MQ=59.17;MQ0=0;MQRankSum=0.242;QD=10.85;ReadPosRankSum=-1.093;VQSLOD=3.9358;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:83,62:146:99:1614,0,2189 1 59247993 59247993 C T exonic JUN synonymous SNV JUN:NM_002228:exon1:c.G750A:p.Q250Q 0.089 0.25 0.055 0.024 0.039 0.016 0.0575 0.2118 0.0282 0.0292 0.0540 0.0526 0.0588 0.0184 0.1 0.2 0.05 0.043 0.041 rs11688 COSM3751326 1(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0529 0.2157 0.0324 0.0189 0.0284 0.0487 0.0538 0.0514 0.0185 0.0934 0.2059 0.0430 0.0199 0.0241 0.0475 0.0527 0.0591 het 1667.14 132 1 59247993 . C T 1667.14 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.938;DP=132;Dels=0.00;FS=1.391;HRun=1;HaplotypeScore=1.7882;MQ=59.18;MQ0=0;MQRankSum=0.633;QD=12.63;ReadPosRankSum=0.578;VQSLOD=6.8576;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:67,65:132:99:1697,0,1850 1 59787350 59787350 T G exonic FGGY nonsynonymous SNV FGGY:NM_001113411:exon2:c.T129G:p.N43K,FGGY:NM_001244714:exon2:c.T129G:p.N43K,FGGY:NM_001350790:exon2:c.T129G:p.N43K,FGGY:NM_001350791:exon2:c.T129G:p.N43K,FGGY:NM_001350794:exon2:c.T129G:p.N43K,FGGY:NM_001350795:exon2:c.T129G:p.N43K,FGGY:NM_018291:exon2:c.T129G:p.N43K 0.47 0.55 0.41 0.48 0.35 0.51 0.4018 0.5256 0.3802 0.5190 0.4147 0.3557 0.3990 0.4599 0.39 0.51 0.34 0.46 . rs835409 COSM146529 1(stomach);1(pancreas);1(skin);1(thyroid);1(large_intestine) . . . . . . . . . . . 0.647 0.100 T 0.0 0.026 B 0.0 0.013 B 0.024 0.264 N 1 0.090 P -0.895 0.014 N 0.37 0.577 T 0.39 0.042 N 0.01 0.129 -0.931 0.440 T 0.000 0.000 T . . . 0.966 0.186 10.47 0.924 0.213 0.019 0.058 N c -1.168 -1.097 0.014 0.126 0.638 0.428 0 0.051 0.136 -1.277 0.029 -0.334 0.073 0.000 0.063 0.962 0.444 1.322 0.020 Carbohydrate kinase\x2c FGGY\x2c N-terminal ENSG00000270457.1 Muscle_Skeletal 0.3861 0.5149 0.3650 0.3537 0.5089 0.4038 0.3402 0.3734 0.4423 0.4120 0.5186 0.3675 0.3543 0.5031 0.4123 0.3472 0.3609 het 413.77 32 1 59787350 . T G 413.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.906;DP=32;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.6289;MQ=59.28;MQ0=0;MQRankSum=-0.302;QD=12.93;ReadPosRankSum=-2.266;VQSLOD=4.1806;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,17:32:99:444,0,412 1 59844471 59844471 G A exonic FGGY synonymous SNV FGGY:NM_001244714:exon3:c.G252A:p.P84P,FGGY:NM_001350795:exon3:c.G252A:p.P84P,FGGY:NM_001350796:exon4:c.G180A:p.P60P,FGGY:NM_001350797:exon4:c.G114A:p.P38P,FGGY:NM_001350798:exon4:c.G180A:p.P60P,FGGY:NM_001350799:exon4:c.G180A:p.P60P,FGGY:NM_001113411:exon5:c.G516A:p.P172P,FGGY:NM_001350790:exon5:c.G516A:p.P172P,FGGY:NM_001350791:exon5:c.G516A:p.P172P,FGGY:NM_001350794:exon5:c.G516A:p.P172P,FGGY:NM_018291:exon5:c.G516A:p.P172P,FGGY:NM_001350792:exon7:c.G348A:p.P116P,FGGY:NM_001350793:exon7:c.G348A:p.P116P 0.49 0.68 0.41 0.43 0.4 0.47 0.4233 0.6345 0.3870 0.4865 0.4775 0.3826 0.4053 0.4263 0.46 0.63 0.38 0.55 0.37 rs835435 COSM3997615;COSM3997616 1(breast);1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4198 0.6391 0.3896 0.3730 0.4904 0.4814 0.3795 0.4049 0.4233 0.4826 0.6357 0.4033 0.3411 0.4863 0.4883 0.4037 0.4122 het 646.84 57 1 59844471 . G A 646.84 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.433;DP=57;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.01;MQ0=0;MQRankSum=0.549;QD=11.35;ReadPosRankSum=-0.467;VQSLOD=6.2372;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:29,28:57:99:677,0,667 1 60466814 60466814 T C exonic C1orf87 nonsynonymous SNV C1orf87:NM_152377:exon10:c.A1207G:p.K403E 0.55 0.61 0.62 0.63 0.45 0.45 0.5038 0.6074 0.6289 0.6450 0.4400 0.4675 0.5251 0.4465 0.51 0.6 0.46 0.59 0.48 rs626251 COSM3751332;COSM3751331 1(oesophagus);1(large_intestine) . . . . . . . . . . . 1.0 0.027 T 0.0 0.026 B 0.0 0.013 B 0.161 0.177 N 1 0.090 P -0.28 0.037 N 2.43 0.153 T 0.63 0.033 N 0.005 0.241 -0.951 0.408 T 0.000 0.000 T . . . -1.179 0.026 0.007 0.323 0.019 0.001 0.006 N c -1.307 -1.237 0.000 0.035 0.554 0.246 0 2.19 0.268 0.131 0.156 -0.819 0.031 0.001 0.137 0.006 0.095 6.824 0.229 . . . 0.5003 0.6063 0.6228 0.5615 0.6420 0.4445 0.4547 0.5030 0.4440 0.5077 0.6008 0.6129 0.6067 0.6517 0.4395 0.4487 0.4640 het 225.81 18 1 60466814 . T C 225.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.400;DP=18;Dels=0.00;FS=4.598;HRun=1;HaplotypeScore=0.0000;MQ=56.82;MQ0=0;MQRankSum=0.844;QD=12.54;ReadPosRankSum=0.489;VQSLOD=4.3327;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:8,10:18:99:256,0,188 1 60506762 60506762 G A exonic C1orf87 synonymous SNV C1orf87:NM_152377:exon4:c.C384T:p.T128T 0.053 0.023 0.072 0.065 0.075 0.046 0.0581 0.0298 0.0591 0.0723 0.0360 0.0675 0.0629 0.0383 0.06 0.03 0.075 0.11 0.041 rs74843231 COSM146530 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0588 0.0295 0.0611 0.0470 0.0699 0.0363 0.0720 0.0557 0.0377 0.0564 0.0300 0.0716 0.0563 0.0581 0.0373 0.0742 0.0704 het 1075.08 90 1 60506762 . G A 1075.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.517;DP=90;Dels=0.00;FS=1.864;HRun=0;HaplotypeScore=0.0000;MQ=58.76;MQ0=0;MQRankSum=1.475;QD=11.95;ReadPosRankSum=0.176;VQSLOD=5.8472;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:52,38:90:99:1105,0,1451 1 62232031 62232031 C T exonic PATJ synonymous SNV PATJ:NM_001350145:exon4:c.C270T:p.I90I,PATJ:NM_176877:exon4:c.C270T:p.I90I 0.91 0.7 0.97 1. 0.98 0.99 0.9636 0.7373 0.9826 0.9998 0.9852 0.9819 0.9725 0.9906 0.9 0.75 0.98 0.88 0.96 rs1286835 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9680 0.7313 0.9795 0.9757 0.9999 0.9860 0.9814 0.9722 0.9904 0.9132 0.7292 0.9761 0.9834 1 0.9894 0.9845 0.9695 hom 3224.61 108 1 62232031 . C T 3224.61 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=56.98;MQ0=0;QD=29.86;VQSLOD=8.1817;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3258,259,0 1 62257036 62257036 A C exonic PATJ nonsynonymous SNV PATJ:NM_001350145:exon9:c.A1085C:p.E362A,PATJ:NM_176877:exon9:c.A1085C:p.E362A 0.046 0.0061 0.063 0.025 0.12 0.03 0.0798 0.0217 0.0551 0.0271 0.0646 0.1127 0.1002 0.0332 0.083 0.022 0.12 0.043 0.074 rs1286823 . . . . . . . . . . . . . 0.004 0.654 D 0.972 0.554 D 0.926 0.644 D 0.000 0.559 D 0.002 0.444 P 2.43 0.707 M 2.18 0.189 T -4.4 0.773 D 0.167 0.202 -1.090 0.055 T 0.001 0.004 T . . . 4.299 0.576 24.0 0.996 0.721 0.951 0.632 D c 0.334 0.340 0.024 0.135 0.706 0.609 0 5.17 0.707 6.382 0.729 1.199 0.960 1.000 0.715 0.993 0.574 10.415 0.433 PDZ domain . . 0.0809 0.0202 0.0610 0.1157 0.0255 0.0619 0.1168 0.0942 0.0336 0.0769 0.0223 0.0837 0.0993 0.0296 0.0655 0.1149 0.0876 het 952.48 94 1 62257036 . A C 952.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.020;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.4826;MQ=59.14;MQ0=0;MQRankSum=1.235;QD=10.13;ReadPosRankSum=-1.434;VQSLOD=5.6279;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:54,40:94:99:982,0,1310 1 62330080 62330080 T G exonic PATJ nonsynonymous SNV PATJ:NM_001350145:exon20:c.T2610G:p.I870M,PATJ:NM_176877:exon20:c.T2610G:p.I870M 0.99 0.97 1. 1. 1. 1. 0.9968 0.9643 0.9992 1 1 0.9999 1 1 0.99 0.96 1. 1. 1. rs2799627 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.391 N 1.000 0.090 P -2.595 0.000 N 2.95 0.097 T 1.89 0.005 N 0.212 0.260 -0.973 0.366 T 0.000 0.000 T . . . 0.349 0.128 6.155 0.101 0.001 0.036 0.087 N c -0.836 -0.531 0.270 0.189 0.706 0.609 0 4.57 0.557 5.238 0.650 0.073 0.181 1.000 0.715 0.996 0.625 10.670 0.448 . . . 0.9975 0.9631 0.9988 1 1 1 0.9999 0.9987 1 0.9897 0.9642 0.9976 1 1 1 1 0.9949 hom 2514.68 78 1 62330080 . T G 2514.68 Mask AC=2;AF=1.00;AN=2;DP=78;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.22;MQ0=0;QD=32.24;VQSLOD=9.3702;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,78:78:99:2548,196,0 1 62330134 62330134 G A exonic PATJ synonymous SNV PATJ:NM_001350145:exon20:c.G2664A:p.L888L,PATJ:NM_176877:exon20:c.G2664A:p.L888L 0.003 0.0008 . . 0.012 0.002 0.0082 0.0019 0.0060 0 0.0204 0.0109 0.0132 0.0016 0.0078 0.0023 0.011 . 0.016 rs4915787 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0079 0.0018 0.0036 0.0015 0 0.0194 0.0110 0.0115 0.0013 0.0098 0.0021 0.0012 0 0 0.0235 0.0131 0.0071 het 1741.01 131 1 62330134 . G A 1741.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.815;DP=131;Dels=0.00;FS=7.335;HRun=0;HaplotypeScore=0.6651;MQ=59.01;MQ0=0;MQRankSum=1.214;QD=13.29;ReadPosRankSum=0.882;VQSLOD=5.0135;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,68:131:99:1771,0,1809 1 62380270 62380270 C T exonic PATJ synonymous SNV PATJ:NM_001350145:exon26:c.C3504T:p.N1168N,PATJ:NM_176877:exon26:c.C3504T:p.N1168N 0.78 0.89 0.84 0.74 0.72 0.67 0.7480 0.8884 0.8189 0.7420 0.7528 0.7320 0.7114 0.6778 0.79 0.88 0.75 0.87 0.34 rs1134766 COSM3751339 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7468 0.8865 0.8226 0.5531 0.7372 0.7597 0.7429 0.7259 0.6682 0.7873 0.8765 0.8206 0.5967 0.7608 0.7586 0.7485 0.7633 het 2053.65 210 1 62380270 . C T 2053.65 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.696;DP=210;Dels=0.00;FS=2.415;HRun=0;HaplotypeScore=5.9293;MQ=58.56;MQ0=0;MQRankSum=0.198;QD=9.78;ReadPosRankSum=0.682;VQSLOD=4.1471;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:116,94:210:99:2084,0,2821 1 62579823 62579823 G A exonic PATJ synonymous SNV PATJ:NM_001350145:exon35:c.G4560A:p.E1520E,PATJ:NM_176877:exon35:c.G4560A:p.E1520E 0.61 0.42 0.72 0.75 0.66 0.59 0.6621 0.4582 0.7664 0.7816 0.5669 0.6837 0.6578 0.6058 0.62 0.47 0.7 0.54 0.75 rs1475563 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6695 0.4551 0.7626 0.7368 0.7881 0.5681 0.6854 0.6804 0.6003 0.6093 0.4483 0.7620 0.7285 0.7805 0.5656 0.6835 0.6112 het 1004.92 56 1 62579823 . G A 1004.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.927;DP=56;Dels=0.00;FS=4.581;HRun=1;HaplotypeScore=2.3391;MQ=58.42;MQ0=0;MQRankSum=1.897;QD=17.94;ReadPosRankSum=1.273;VQSLOD=4.0952;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:21,35:56:99:1035,0,590 1 62579907 62579907 C T exonic PATJ synonymous SNV PATJ:NM_001350145:exon35:c.C4644T:p.I1548I,PATJ:NM_176877:exon35:c.C4644T:p.I1548I 0.3 0.28 0.23 0.71 0.07 0.18 0.1742 0.2631 0.2818 0.7347 0.0605 0.0824 0.1228 0.1677 0.15 0.26 0.089 0.34 0.11 rs7418709 COSM5427913;COSM5427914 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1762 0.2671 0.2733 0.1185 0.7414 0.0616 0.0812 0.1448 0.1617 0.1701 0.2536 0.2590 0.1225 0.7444 0.0547 0.0871 0.0980 het 284.48 34 1 62579907 . C T 284.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.721;DP=34;Dels=0.00;FS=3.580;HRun=1;HaplotypeScore=0.0000;MQ=57.86;MQ0=0;MQRankSum=-0.631;QD=8.37;ReadPosRankSum=-1.351;VQSLOD=4.0531;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,12:34:99:314,0,548 1 62675619 62675619 C T exonic L1TD1 synonymous SNV L1TD1:NM_019079:exon4:c.C1173T:p.A391A,L1TD1:NM_001164835:exon5:c.C1173T:p.A391A 0.3 0.28 0.35 0.11 0.49 0.29 0.4167 0.3294 0.2922 0.1077 0.4415 0.5137 0.4381 0.3173 0.45 0.34 0.51 0.33 0.47 rs4625314 COSM146532 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4153 0.3283 0.3130 0.5319 0.1090 0.4430 0.5145 0.4493 0.3190 0.4212 0.3397 0.3604 0.5762 0.1141 0.4421 0.4956 0.4398 het 1316.48 127 1 62675619 . C T 1316.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.836;DP=127;DS;Dels=0.00;FS=15.087;HRun=1;HaplotypeScore=3.3019;MQ=58.00;MQ0=1;MQRankSum=-1.302;QD=10.37;ReadPosRankSum=0.938;VQSLOD=2.2914;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,50:127:99:1346,0,2220 1 62675892 62675892 A G exonic L1TD1 synonymous SNV L1TD1:NM_019079:exon4:c.A1446G:p.E482E,L1TD1:NM_001164835:exon5:c.A1446G:p.E482E 0.51 0.52 0.63 0.25 0.65 0.53 0.6062 0.5351 0.6270 0.2400 0.6563 0.6712 0.6344 0.5422 0.62 0.54 0.66 0.6 0.62 rs2481694 COSM3751345 1(NS);1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6058 0.5335 0.6321 0.6168 0.2391 0.6586 0.6705 0.6231 0.5396 0.6026 0.5421 0.6268 0.6523 0.2463 0.6574 0.6592 0.6255 het 1189.40 102 1 62675892 . A G 1189.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.694;DP=102;Dels=0.00;FS=0.911;HRun=1;HaplotypeScore=1.9164;MQ=59.59;MQ0=0;MQRankSum=0.303;QD=11.66;ReadPosRankSum=-0.492;VQSLOD=6.5113;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:57,45:102:99:1219,0,1556 1 62713224 62713224 C G exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon8:c.G919C:p.V307L,KANK4:NM_181712:exon9:c.G2803C:p.V935L 0.99 1. 0.99 1. 0.97 0.97 0.9744 0.9931 0.9882 0.9998 0.9856 0.9649 0.9812 0.9732 0.97 0.99 0.96 1. 0.99 rs2941679 . . . . . . . . . . . . . 0.185 0.215 T 0.0 0.026 B 0.001 0.040 B 0.163 0.176 N 1.000 0.207 P -0.55 0.024 N 0.08 0.616 T 0.23 0.050 N 0.073 0.109 -0.996 0.312 T 0.000 0.000 T . . . 1.806 0.278 15.02 0.981 0.381 0.424 0.266 N c -0.763 -0.542 0.070 0.155 0.581 0.326 0 2.62 0.302 0.787 0.263 0.133 0.217 0.953 0.330 0.998 0.697 9.007 0.351 Ankyrin repeat-containing domain . . 0.9743 0.9936 0.9870 0.9598 0.9993 0.9850 0.9637 0.9742 0.9722 0.9755 0.9938 0.9821 0.9702 0.9994 0.9842 0.9607 0.9623 hom 6082.27 178 1 62713224 . C G 6082.27 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.3102;MQ=59.59;MQ0=0;QD=34.17;VQSLOD=8.6670;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:6082,478,0 1 62728784 62728784 A G exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon6:c.T635C:p.V212A,KANK4:NM_181712:exon7:c.T2519C:p.V840A 0.72 0.55 0.79 0.84 0.74 0.74 0.7444 0.5590 0.8652 0.8406 0.8490 0.7393 0.7336 0.7058 0.67 0.56 0.73 0.74 0.7 rs2666472 COSM4144131 1(thyroid) . . . . . . . . . . . 0.369 0.187 T 0.068 0.222 B 0.036 0.253 B 0.475 0.122 N 0.663 0.810 P 1.565 0.397 L -0.44 0.698 T -2.29 0.556 N 0.19 0.232 -0.962 0.389 T 0.000 0.000 T . . . 0.670 0.158 8.629 0.914 0.200 0.777 0.379 D c -0.947 -0.882 0.000 0.052 0.554 0.283 0 -0.649 0.108 2.839 0.477 -1.159 0.017 1.000 0.715 0.483 0.268 12.662 0.560 Ankyrin repeat-containing domain ENSG00000240563.1|ENSG00000240563.1 Cells_Transformed_fibroblasts|Thyroid 0.7543 0.5489 0.8598 0.7077 0.8450 0.8471 0.7364 0.7544 0.7024 0.7130 0.5516 0.8325 0.7067 0.8273 0.8522 0.7509 0.7837 hom 1005.15 34 1 62728784 . A G 1005.15 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.45;MQ0=0;QD=29.56;VQSLOD=8.9476;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:90.24:1038,90,0 1 62728838 62728838 T C exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon6:c.A581G:p.H194R,KANK4:NM_181712:exon7:c.A2465G:p.H822R 0.72 0.55 0.79 0.84 0.74 0.74 0.7426 0.5557 0.8631 0.8400 0.8483 0.7377 0.7322 0.7031 0.67 0.56 0.73 0.74 0.71 rs2258470 . . . . . . . . . . . . . 0.464 0.179 T 0.0 0.026 B 0.0 0.013 B 0.278 0.150 N 1.000 0.588 P -0.355 0.031 N -0.08 0.639 T 0.67 0.023 N 0.004 0.000 -0.992 0.322 T 0.000 0.000 T . . . 0.245 0.117 5.144 0.928 0.218 0.137 0.178 N c -0.807 -0.656 0.001 0.080 0.487 0.133 0 3.02 0.338 2.747 0.469 0.066 0.173 1.000 0.715 0.747 0.321 10.110 0.415 Ankyrin repeat-containing domain ENSG00000240563.1|ENSG00000240563.1 Cells_Transformed_fibroblasts|Thyroid 0.7543 0.5497 0.8599 0.7071 0.8448 0.8478 0.7364 0.7543 0.7025 0.7124 0.5506 0.8325 0.7 0.8265 0.8522 0.7504 0.7832 hom 1566.18 49 1 62728838 . T C 1566.18 Mask AC=2;AF=1.00;AN=2;DP=49;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.67;MQ0=0;QD=31.96;VQSLOD=9.3997;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,49:49:99:1599,132,0 1 62728861 62728861 T C exonic KANK4 synonymous SNV KANK4:NM_001320269:exon6:c.A558G:p.K186K,KANK4:NM_181712:exon7:c.A2442G:p.K814K 0.72 0.55 0.79 0.84 0.74 0.74 0.7426 0.5554 0.8632 0.8404 0.8482 0.7380 0.7334 0.7021 0.67 0.56 0.73 0.75 0.7 rs2260581 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7546 0.5505 0.8600 0.7074 0.8450 0.8478 0.7369 0.7544 0.7025 0.7132 0.5516 0.8321 0.7114 0.8275 0.8522 0.7511 0.7832 hom 1710.33 51 1 62728861 . T C 1710.33 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=58.26;MQ0=0;QD=33.54;VQSLOD=8.6661;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,51:51:99:1743,138,0 1 62728918 62728918 G A exonic KANK4 synonymous SNV KANK4:NM_001320269:exon6:c.C501T:p.P167P,KANK4:NM_181712:exon7:c.C2385T:p.P795P 0.72 0.55 0.79 0.84 0.74 0.74 0.7437 0.5579 0.8642 0.8428 0.8492 0.7389 0.7378 0.7018 0.67 0.56 0.73 0.75 0.7 rs2262110 COSM5427411 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7547 0.5505 0.8598 0.7073 0.8457 0.8479 0.7372 0.7532 0.7024 0.7135 0.5519 0.8325 0.7067 0.8282 0.8522 0.7515 0.7827 hom 1727.38 52 1 62728918 . G A 1727.38 Mask AC=2;AF=1.00;AN=2;DP=52;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.65;MQ0=0;QD=33.22;VQSLOD=9.4939;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,52:52:99:1760,141,0 1 62732421 62732421 T C exonic KANK4 nonsynonymous SNV KANK4:NM_001320269:exon5:c.A418G:p.T140A,KANK4:NM_181712:exon6:c.A2302G:p.T768A 0.31 0.21 0.4 0.59 0.27 0.12 0.2850 0.2204 0.5009 0.5904 0.3556 0.2458 0.2892 0.1437 0.24 0.22 0.24 0.27 0.17 rs11207949 . . . . . . . . . . . . . 0.542 0.067 T 0.001 0.126 B 0.01 0.145 B 0.032 0.251 N 1 0.090 P 1.77 0.460 L 0.9 0.456 T -0.98 0.279 N 0.087 0.092 -0.935 0.433 T 0.000 0.000 T . . . 0.766 0.167 9.253 0.744 0.103 0.758 0.368 D c -0.485 -0.439 0.005 0.109 0.554 0.283 0 3.57 0.399 2.369 0.436 0.913 0.425 0.949 0.328 0.413 0.256 12.177 0.533 . . . 0.2960 0.2163 0.4804 0.2111 0.5865 0.3606 0.2444 0.2741 0.1435 0.2772 0.2013 0.4281 0.2086 0.5407 0.3520 0.2667 0.3035 het 1125.03 112 1 62732421 . T C 1125.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.034;DP=112;Dels=0.00;FS=3.527;HRun=0;HaplotypeScore=1.4725;MQ=59.29;MQ0=0;MQRankSum=-0.026;QD=10.04;ReadPosRankSum=-0.337;VQSLOD=6.4721;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:62,50:112:99:1155,0,1551 1 62738904 62738904 T C exonic KANK4 synonymous SNV KANK4:NM_181712:exon3:c.A1872G:p.P624P 0.8 0.88 0.79 0.84 0.7 0.76 0.7470 0.8585 0.8482 0.8452 0.8083 0.6919 0.7277 0.7515 0.73 0.85 0.67 0.8 0.34 rs7516290 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7515 0.8575 0.8322 0.6363 0.8472 0.8121 0.6895 0.7303 0.7521 0.7708 0.8603 0.8079 0.6309 0.8346 0.8095 0.7039 0.7660 het 640.29 46 1 62738904 . T C 640.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.434;DP=46;Dels=0.00;FS=3.097;HRun=0;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-0.062;QD=13.92;ReadPosRankSum=1.686;VQSLOD=5.1647;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:18,26:46:99:670,0,516 1 62740446 62740446 T C exonic KANK4 synonymous SNV KANK4:NM_181712:exon3:c.A330G:p.P110P 0.8 0.88 0.79 0.85 0.7 0.76 0.7448 0.8589 0.8464 0.8634 0.8071 0.6890 0.7280 0.7427 0.74 0.85 0.67 0.81 0.51 rs2666506 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7477 0.8594 0.8400 0.6339 0.8650 0.8117 0.6864 0.7253 0.7417 0.7700 0.8595 0.8082 0.6233 0.8526 0.8091 0.7007 0.7614 het 1539.81 126 1 62740446 . T C 1539.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.545;DP=126;Dels=0.00;FS=9.792;HRun=0;HaplotypeScore=2.5130;MQ=59.29;MQ0=0;MQRankSum=-1.217;QD=12.22;ReadPosRankSum=0.106;VQSLOD=3.6590;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:63,62:126:99:1570,0,1652 1 62740449 62740449 T C exonic KANK4 synonymous SNV KANK4:NM_181712:exon3:c.A327G:p.S109S 0.78 0.8 0.78 0.85 0.7 0.76 0.7374 0.7772 0.8431 0.8635 0.8068 0.6888 0.7236 0.7424 0.71 0.77 0.67 0.79 0.47 rs2666507 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7418 0.7771 0.8364 0.6339 0.8650 0.8113 0.6862 0.7221 0.7415 0.7454 0.7753 0.8065 0.6233 0.8515 0.8075 0.7002 0.7541 het 1507.80 130 1 62740449 . T C 1507.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.187;DP=130;Dels=0.00;FS=13.165;HRun=0;HaplotypeScore=2.4328;MQ=59.31;MQ0=0;MQRankSum=-0.217;QD=11.60;ReadPosRankSum=0.021;VQSLOD=3.6480;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:66,64:130:99:1538,0,1716 1 62959955 62959955 T A exonic DOCK7 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,DOCK7:NM_001330614:exon40:c.A5181T:p.V1727V . . . . . . 0.0003 0 0 0 0.0002 0.0005 0 0 0.0004 . 0.0006 . . rs144604663 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0002 0 0 0 0 4.503e-05 0.0004 0.0006 0 0.0003 0.0001 0 0 0 0 0.0005 0 het 605.40 49 1 62959955 . T A 605.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.090;DP=49;Dels=0.00;FS=4.395;HRun=1;HaplotypeScore=0.0000;MQ=58.63;MQ0=0;MQRankSum=-0.250;QD=12.36;ReadPosRankSum=0.590;VQSLOD=3.9245;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:25,24:49:99:635,0,663 1 62960101 62960101 A G exonic DOCK7 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,DOCK7:NM_001330614:exon40:c.T5035C:p.L1679L 0.35 0.42 0.36 0.18 0.32 0.45 0.3469 0.4038 0.4003 0.1939 0.2780 0.3278 0.3124 0.4604 0.35 0.39 0.33 0.3 0.26 rs10889335 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3442 0.4006 0.3930 0.2334 0.1952 0.2831 0.3366 0.3142 0.4592 0.3426 0.3993 0.3842 0.2781 0.2001 0.2807 0.3393 0.3279 hom 3843.46 124 1 62960101 . A G 3843.46 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.1893;MQ=59.02;MQ0=0;QD=31.00;VQSLOD=9.0579;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3843,292,0 1 63881552 63881552 C T exonic ALG6 nonsynonymous SNV ALG6:NM_013339:exon11:c.C911T:p.S304F 0.83 0.9 0.76 0.86 0.69 0.9 0.7514 0.8629 0.8338 0.8596 0.6712 0.6875 0.7472 0.8565 0.74 0.86 0.68 0.87 0.56 rs4630153 COSM5653791;COSM5653790 1(haematopoietic_and_lymphoid_tissue) other|Benign not_specified|Congenital_disorder_of_glycosylation RCV000081560.9|RCV000323730.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0282577:ORPHA137:238049009 . . . . . . 0.213 0.194 T 0.0 0.026 B 0.001 0.040 B 0.100 0.199 N 1 0.090 P . . . -1.61 0.823 D -1.52 0.370 N 0.079 0.071 -1.019 0.241 T 0.185 0.534 T . . . 1.629 0.257 14.01 0.390 0.026 0.005 0.024 N c -0.537 -0.415 0.002 0.090 0.706 0.609 0 3.91 0.442 0.653 0.244 -0.251 0.090 0.873 0.306 0.956 0.434 6.859 0.231 . ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000088035.11|ENSG00000142856.12|ENSG00000088035.11|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000142856.12|ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina 0.7527 0.8701 0.8238 0.7772 0.8597 0.6749 0.6833 0.7483 0.8566 0.7439 0.8674 0.7780 0.7715 0.8776 0.6722 0.6733 0.7194 het 526.10 51 1 63881552 . C T 526.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.196;DP=51;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=3.8634;MQ=60.00;MQ0=0;MQRankSum=1.598;QD=10.32;ReadPosRankSum=1.196;VQSLOD=4.7885;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:30,21:51:99:556,0,786 1 63997633 63997633 A T exonic EFCAB7 synonymous SNV EFCAB7:NM_032437:exon3:c.A330T:p.S110S 0.2 0.27 0.17 0.19 0.14 0.17 0.1726 0.2343 0.1877 0.1847 0.1329 0.1611 0.1908 0.1788 0.18 0.23 0.15 0.17 0.11 rs9804078 COSM3747044 3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1718 0.2340 0.1824 0.2608 0.1852 0.1360 0.1554 0.1980 0.1745 0.1703 0.2279 0.1926 0.2450 0.1927 0.1284 0.1416 0.1663 het 380.21 38 1 63997633 . A T 380.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.143;DP=38;Dels=0.00;FS=1.271;HRun=3;HaplotypeScore=2.9874;MQ=58.73;MQ0=0;MQRankSum=-0.088;QD=10.01;ReadPosRankSum=-0.881;VQSLOD=5.3628;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:21,17:38:99:410,0,541 1 63999826 63999826 C T exonic EFCAB7 nonsynonymous SNV EFCAB7:NM_032437:exon6:c.C743T:p.T248I 0.14 0.086 0.16 0.19 0.14 0.17 0.1585 0.0877 0.1821 0.1839 0.1325 0.1598 0.1828 0.1770 0.13 0.089 0.15 0.11 0.13 rs6693255 COSM3747045 4(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.006 0.614 D 0.294 0.306 B 0.07 0.264 B 0.052 0.229 N 0.948 0.265 P 2.47 0.719 M 0.32 0.585 T -1.91 0.444 N 0.065 0.098 -1.083 0.067 T 0.061 0.256 T . . . 1.471 0.239 13.16 0.902 0.189 0.242 0.221 N c -0.534 -0.505 0.049 0.148 0.563 0.310 0 1.49 0.219 0.461 0.215 0.017 0.142 0.056 0.214 0.423 0.258 4.209 0.099 . ENSG00000079739.11|ENSG00000203965.8|ENSG00000079739.11 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Esophagus_Muscularis 0.1611 0.0842 0.1752 0.2600 0.1849 0.1359 0.1550 0.1915 0.1742 0.1285 0.0823 0.1854 0.2417 0.1921 0.1286 0.1408 0.1633 het 1235.83 99 1 63999826 . C T 1235.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.665;DP=99;Dels=0.00;FS=2.771;HRun=0;HaplotypeScore=0.9469;MQ=59.53;MQ0=0;MQRankSum=0.850;QD=12.48;ReadPosRankSum=-0.081;VQSLOD=6.8230;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:50,48:99:99:1266,0,1265 1 63999868 63999868 T C exonic EFCAB7 nonsynonymous SNV EFCAB7:NM_032437:exon6:c.T785C:p.M262T 0.29 0.58 0.2 0.19 0.15 0.19 0.2014 0.5001 0.2026 0.1923 0.1432 0.1624 0.2109 0.1981 0.27 0.48 0.16 0.33 0.16 rs6657480 COSM3747046 4(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.845 0.028 T 0.0 0.026 B 0.0 0.013 B 0.230 0.159 N 1 0.090 P -2.34 0.001 N 0.51 0.555 T 0.55 0.027 N 0.018 0.003 -0.980 0.351 T 0.012 0.046 T . . . -2.000 0.008 0.001 0.588 0.059 0.024 0.067 N c -1.326 -1.138 0.230 0.185 0.615 0.372 0 2.32 0.278 -0.316 0.080 -0.441 0.057 0.001 0.137 0.471 0.266 4.47 0.110 . ENSG00000203965.8|ENSG00000142856.12|ENSG00000142856.12 Brain_Cerebellar_Hemisphere|Lung|Thyroid 0.1954 0.5013 0.1980 0.2599 0.1926 0.1459 0.1564 0.2132 0.1949 0.2461 0.4872 0.2172 0.2450 0.1976 0.1366 0.1424 0.1852 het 633.98 60 1 63999868 . T C 633.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.082;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6640;MQ=60.00;MQ0=0;MQRankSum=-1.341;QD=10.57;ReadPosRankSum=-0.141;VQSLOD=5.2518;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,28:60:99:664,0,789 1 64021096 64021096 G A exonic EFCAB7 nonsynonymous SNV EFCAB7:NM_032437:exon9:c.G1124A:p.R375K 0.14 0.067 0.16 0.19 0.14 0.17 0.1575 0.0769 0.1813 0.1839 0.1323 0.1598 0.1828 0.1774 0.13 0.079 0.15 0.11 0.14 rs2273367 COSM3747048 5(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . 0.25 0.171 T 0.001 0.067 B 0.002 0.063 B 0.000 0.537 N 0.439 0.322 P 1.42 0.358 L 0.91 0.449 T -0.94 0.251 N 0.04 0.020 -1.089 0.058 T 0.050 0.211 T . . . 2.197 0.325 17.49 0.973 0.327 0.916 0.537 D c -0.076 0.078 0.792 0.240 0.638 0.428 0 4.04 0.461 4.788 0.619 1.045 0.669 1.000 0.715 1.000 0.888 10.965 0.464 . ENSG00000079739.11|ENSG00000203965.8|ENSG00000079739.11 Adipose_Subcutaneous|Brain_Cerebellar_Hemisphere|Esophagus_Muscularis 0.1606 0.0736 0.1749 0.2603 0.1851 0.1358 0.1552 0.1913 0.1748 0.1259 0.0723 0.1847 0.2417 0.1926 0.1282 0.1414 0.1598 het 1010.54 109 1 64021096 . G A 1010.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.116;DP=109;Dels=0.00;FS=1.658;HRun=1;HaplotypeScore=4.4468;MQ=58.58;MQ0=0;MQRankSum=-0.343;QD=9.27;ReadPosRankSum=0.682;VQSLOD=5.3230;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:69,40:109:99:1041,0,1812 1 64095111 64095111 A G exonic PGM1 nonsynonymous SNV PGM1:NM_001172818:exon2:c.A316G:p.I106V,PGM1:NM_002633:exon2:c.A262G:p.I88V 0.13 0.25 0.11 0.011 0.14 0.085 0.1304 0.2477 0.0584 0.0068 0.1355 0.1488 0.1222 0.0959 0.17 0.24 0.14 0.14 0.14 rs855314 COSM3735977;COSM3735978 1(skin) Likely benign|Likely benign|Benign Congenital_disorder_of_glycosylation_type_1t|Congenital_disorder_of_glycosylation|not_specified RCV000350881.1|RCV000389349.1|RCV000425439.1 MedGen:OMIM:Orphanet|MedGen:Orphanet:SNOMED_CT|MedGen C2752015:614921:ORPHA319646|C0282577:ORPHA137:238049009|CN169374 . . . . . . 1.0 0.010 T 0.022 0.245 B 0.037 0.252 B 0.000 0.629 D 0.182 0.810 P -0.745 0.017 N 0.02 0.623 T -0.03 0.075 N 0.156 0.306 -1.049 0.147 T 0.042 0.180 T . . . 3.281 0.453 22.8 0.968 0.305 0.988 0.873 D c -0.233 0.044 1.000 0.747 0.732 0.924 0 5.48 0.806 9.197 0.941 1.199 0.960 1.000 0.715 0.999 0.750 15.892 0.790 Alpha-D-phosphohexomutase\x2c alpha/beta/alpha I/II/III|Alpha-D-phosphohexomutase\x2c alpha/beta/alpha domain I . . 0.1255 0.2474 0.0689 0.1324 0.0066 0.1331 0.1508 0.1300 0.0952 0.1626 0.2458 0.0837 0.1216 0.0062 0.1246 0.1478 0.1224 het 2288.46 186 1 64095111 . A G 2288.46 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.498;DP=186;Dels=0.00;FS=2.558;HRun=0;HaplotypeScore=5.2136;MQ=58.75;MQ0=0;MQRankSum=0.805;QD=12.30;ReadPosRankSum=0.525;VQSLOD=5.4433;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:96,90:186:99:2318,0,2344 1 64515379 64515379 C T exonic ROR1 synonymous SNV ROR1:NM_001083592:exon3:c.C180T:p.L60L,ROR1:NM_005012:exon3:c.C180T:p.L60L 0.78 0.55 0.86 0.94 0.83 0.8 0.8384 0.6292 0.8880 0.9585 0.8696 0.8524 0.8392 0.8034 0.78 0.63 0.86 0.78 0.83 rs1772626 COSM3747050 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8459 0.6220 0.8871 0.8767 0.9583 0.8767 0.8503 0.8321 0.8038 0.8042 0.6411 0.8902 0.8642 0.9653 0.8797 0.8554 0.8411 hom 5815.04 185 1 64515379 . C T 5815.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.927;DP=185;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.6778;MQ=59.08;MQ0=0;MQRankSum=-0.627;QD=31.43;ReadPosRankSum=-0.927;VQSLOD=7.6158;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,184:185:99:5776,416,0 1 64608329 64608329 G T exonic ROR1 synonymous SNV ROR1:NM_001083592:exon7:c.G1170T:p.A390A,ROR1:NM_005012:exon7:c.G1170T:p.A390A 1. 1. 1. 1. 1. 1. 1 1 1 1 1 1 1 1 . . . 1. 1. rs2762833 COSM4594947 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 hom 1733.18 54 1 64608329 . G T 1733.18 Mask AC=2;AF=1.00;AN=2;DP=54;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.10;VQSLOD=12.7927;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,54:54:99:1766,138,0 1 64624842 64624842 A G exonic ROR1 synonymous SNV ROR1:NM_005012:exon8:c.A1353G:p.V451V 0.35 0.22 0.36 0.41 0.4 0.39 0.3592 0.2330 0.3831 0.4068 0.3593 0.3613 0.3458 0.3892 0.32 0.23 0.37 0.34 0.3 rs6668545 COSM3747051 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3615 0.2291 0.3838 0.3634 0.4009 0.3592 0.3595 0.3643 0.3887 0.3299 0.2312 0.3589 0.3742 0.4067 0.3589 0.3676 0.3617 hom 6376.52 200 1 64624842 . A G 6376.52 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=31.88;VQSLOD=9.5360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6376,485,0 1 64643277 64643277 C T exonic ROR1 nonsynonymous SNV ROR1:NM_005012:exon9:c.C1553T:p.T518M 0.24 0.042 0.3 0.31 0.35 0.29 0.3043 0.0770 0.3485 0.3000 0.3796 0.3329 0.2841 0.2743 0.25 0.079 0.33 0.24 0.25 rs7527017 COSM3747052 1(haematopoietic_and_lymphoid_tissue);1(liver);1(large_intestine) . . . . . . . . . . . 0.043 0.413 D 0.788 0.426 P 0.532 0.468 P 0.019 0.273 N 0.735 0.588 P 0.78 0.195 N -1.68 0.829 D -1.05 0.275 N 0.134 0.155 -0.285 0.754 T 0.323 0.692 T . . . 4.341 0.581 24.0 0.998 0.846 0.970 0.720 D c 0.193 0.285 0.859 0.252 0.707 0.730 0 5.04 0.672 1.815 0.384 0.935 0.490 0.941 0.324 0.997 0.653 17.008 0.862 Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain;Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase\x2c catalytic domain ENSG00000177414.9|ENSG00000177414.9|ENSG00000177414.9|ENSG00000177414.9|ENSG00000177414.9 Heart_Left_Ventricle|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3103 0.0739 0.3471 0.2343 0.2954 0.3857 0.3353 0.3115 0.2747 0.2785 0.0751 0.3258 0.2351 0.3099 0.3961 0.3605 0.3360 hom 7826.76 242 1 64643277 . C T 7826.76 Mask AC=2;AF=1.00;AN=2;DP=242;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8307;MQ=59.67;MQ0=0;QD=32.34;VQSLOD=9.3908;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:7826,623,0 1 65099841 65099841 A G exonic CACHD1 nonsynonymous SNV CACHD1:NM_001293274:exon6:c.A16G:p.S6G,CACHD1:NM_020925:exon7:c.A751G:p.S251G . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.428 0.096 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1.000 0.530 D 0.695 0.181 N 1.94 0.227 T -1.31 0.328 N 0.203 0.249 -1.030 0.203 T 0.012 0.047 T 0.008 0.214 T 0.343 0.127 6.106 0.960 0.279 0.856 0.445 D c -0.660 -0.533 0.454 0.206 0.706 0.609 0 3.58 0.400 3.081 0.496 0.225 0.256 0.994 0.380 0.921 0.396 5.642 0.167 von Willebrand factor\x2c type A . . . . . . . . . . . . . . . . . . . het 1321.18 101 1 65099841 . A G 1321.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.924;DP=101;Dels=0.00;FS=1.597;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=-1.433;QD=13.08;ReadPosRankSum=-0.603;VQSLOD=3.6255;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:54,47:101:99:1351,0,1492 1 65113568 65113568 T C exonic CACHD1 nonsynonymous SNV CACHD1:NM_001293274:exon8:c.T353C:p.M118T,CACHD1:NM_020925:exon9:c.T1088C:p.M363T 1. 0.99 1. 1. 1. 1. 0.9990 0.9900 0.9997 1 1 0.9998 1 0.9999 1. 0.99 1. 1. 1. rs6588100 . . . . . . . . . . . . . 0.998 0.019 T 0.0 0.026 B 0.0 0.013 B 0.003 0.355 N 1 0.090 P -0.345 0.033 N 2.06 0.205 T 0.61 0.025 N 0.033 0.028 -0.925 0.448 T 0.008 0.029 T . . . -0.554 0.052 0.162 0.338 0.020 0.021 0.062 N c -1.096 -1.019 0.000 0.065 0.672 0.522 0 2.3 0.276 0.804 0.266 0.016 0.142 0.002 0.151 0.655 0.299 8.775 0.337 von Willebrand factor\x2c type A . . 0.9992 0.9894 0.9999 0.9976 1 1 0.9999 0.9993 0.9999 0.9971 0.9899 1 1 1 1 1 0.9980 hom 2867.71 94 1 65113568 . T C 2867.71 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9772;MQ=59.75;MQ0=0;QD=30.51;VQSLOD=9.3073;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2901,244,0 1 65147002 65147002 C T exonic CACHD1 synonymous SNV CACHD1:NM_001293274:exon24:c.C2580T:p.H860H,CACHD1:NM_020925:exon25:c.C3315T:p.H1105H 0.13 0.18 0.088 0.19 0.046 0.099 0.0696 0.1654 0.0639 0.2058 0.0172 0.0414 0.0760 0.0763 0.086 0.16 0.046 0.17 0.0082 rs3828064 COSM3997629 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0683 0.1680 0.0690 0.0548 0.2117 0.0193 0.0417 0.0676 0.0744 0.0815 0.1659 0.0719 0.0695 0.2163 0.0184 0.0356 0.0459 het 2370.15 232 1 65147002 . C T 2370.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.379;DP=232;DS;Dels=0.00;FS=1.637;HRun=0;HaplotypeScore=6.5230;MQ=59.29;MQ0=1;MQRankSum=-1.044;QD=10.22;ReadPosRankSum=-0.107;VQSLOD=4.3979;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:131,101:232:99:2400,0,3187 1 65310489 65310489 T C exonic JAK1 synonymous SNV JAK1:NM_001321852:exon16:c.A2199G:p.P733P,JAK1:NM_001321856:exon16:c.A2199G:p.P733P,JAK1:NM_001321857:exon16:c.A2196G:p.P732P,JAK1:NM_002227:exon16:c.A2199G:p.P733P,JAK1:NM_001320923:exon17:c.A2199G:p.P733P,JAK1:NM_001321854:exon17:c.A2199G:p.P733P,JAK1:NM_001321855:exon17:c.A2199G:p.P733P,JAK1:NM_001321853:exon18:c.A2199G:p.P733P 0.37 0.66 0.32 0.3 0.25 0.22 0.2935 0.6133 0.3652 0.3136 0.2794 0.2467 0.2946 0.2375 0.35 0.58 0.23 0.41 0.33 rs2230588 COSM3751351 9(soft_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2943 0.6201 0.3515 0.3558 0.3170 0.2859 0.2414 0.2985 0.2351 0.3717 0.6204 0.3349 0.3675 0.3046 0.2774 0.2630 0.2969 het 965.03 98 1 65310489 . T C 965.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.070;DP=98;Dels=0.00;FS=2.723;HRun=0;HaplotypeScore=4.5134;MQ=59.08;MQ0=0;MQRankSum=0.132;QD=9.85;ReadPosRankSum=-1.854;VQSLOD=4.6750;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:61,37:98:99:995,0,1426 1 65311214 65311214 G C exonic JAK1 synonymous SNV JAK1:NM_001321852:exon15:c.C2097G:p.A699A,JAK1:NM_001321856:exon15:c.C2097G:p.A699A,JAK1:NM_001321857:exon15:c.C2094G:p.A698A,JAK1:NM_002227:exon15:c.C2097G:p.A699A,JAK1:NM_001320923:exon16:c.C2097G:p.A699A,JAK1:NM_001321854:exon16:c.C2097G:p.A699A,JAK1:NM_001321855:exon16:c.C2097G:p.A699A,JAK1:NM_001321853:exon17:c.C2097G:p.A699A 0.039 0.0015 0.13 0.0069 0.041 0.054 0.0615 0.0093 0.1710 0.0094 0.0448 0.0584 0.0489 0.0626 0.045 0.011 0.061 0.011 0.066 rs3737139 COSM5019856 3(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0668 0.0096 0.1688 0.0344 0.0114 0.0421 0.0615 0.0593 0.0641 0.0469 0.0114 0.1348 0.0298 0.0136 0.0481 0.0657 0.0571 het 2329 205 1 65311214 . G C 2329 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.277;DP=205;DS;Dels=0.00;FS=0.544;HRun=0;HaplotypeScore=7.3224;MQ=59.46;MQ0=0;MQRankSum=1.693;QD=11.36;ReadPosRankSum=-0.291;VQSLOD=3.7078;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:112,93:205:99:2359,0,3104 1 65321250 65321250 G A exonic JAK1 synonymous SNV JAK1:NM_001321852:exon11:c.C1590T:p.I530I,JAK1:NM_001321856:exon11:c.C1590T:p.I530I,JAK1:NM_001321857:exon11:c.C1587T:p.I529I,JAK1:NM_002227:exon11:c.C1590T:p.I530I,JAK1:NM_001320923:exon12:c.C1590T:p.I530I,JAK1:NM_001321854:exon12:c.C1590T:p.I530I,JAK1:NM_001321855:exon12:c.C1590T:p.I530I,JAK1:NM_001321853:exon13:c.C1590T:p.I530I 0.039 0.0015 0.13 0.0069 0.041 0.054 0.0616 0.0092 0.1714 0.0094 0.0459 0.0584 0.0494 0.0632 0.044 0.012 0.06 0.011 0.057 rs2230586 COSM5019852 3(soft_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0667 0.0095 0.1687 0.0345 0.0114 0.0420 0.0612 0.0590 0.0642 0.0471 0.0113 0.1360 0.0298 0.0136 0.0481 0.0660 0.0562 het 669.36 59 1 65321250 . G A 669.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.882;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3548;MQ=59.22;MQ0=0;MQRankSum=0.775;QD=11.35;ReadPosRankSum=0.253;VQSLOD=6.4495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,25:59:99:699,0,893 1 65335095 65335095 T C exonic JAK1 synonymous SNV JAK1:NM_001321852:exon6:c.A546G:p.G182G,JAK1:NM_001321856:exon6:c.A546G:p.G182G,JAK1:NM_001321857:exon6:c.A546G:p.G182G,JAK1:NM_002227:exon6:c.A546G:p.G182G,JAK1:NM_001320923:exon7:c.A546G:p.G182G,JAK1:NM_001321854:exon7:c.A546G:p.G182G,JAK1:NM_001321855:exon7:c.A546G:p.G182G,JAK1:NM_001321853:exon8:c.A546G:p.G182G 0.035 0.0015 0.13 0.0069 0.041 0.037 0.0597 0.0092 0.1709 0.0094 0.0448 0.0583 0.0478 0.0507 0.045 0.012 0.06 0.011 0.074 rs11585932 COSM5019905 3(soft_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0652 0.0095 0.1690 0.0344 0.0114 0.0420 0.0613 0.0584 0.0516 0.0469 0.0112 0.1343 0.0298 0.0136 0.0479 0.0660 0.0540 het 1757.04 156 1 65335095 . T C 1757.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=8.474;DP=156;Dels=0.00;FS=4.954;HRun=2;HaplotypeScore=3.3382;MQ=59.17;MQ0=0;MQRankSum=-0.544;QD=11.26;ReadPosRankSum=0.791;VQSLOD=5.3492;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:89,67:156:99:1787,0,2291 1 65858145 65858145 G A exonic DNAJC6 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 0.35 0.28 0.43 0.19 0.53 0.39 0.4590 0.3048 0.4580 0.1813 0.4194 0.5292 0.4758 0.4331 0.46 0.32 0.53 0.34 0.51 rs4325172 COSM3751355;COSM3751356 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4575 0.2996 0.4662 0.5394 0.1770 0.4367 0.5317 0.4779 0.4040 0.4301 0.3048 0.4604 0.5530 0.1760 0.4393 0.5197 0.4959 het 1006.13 86 1 65858145 . G A 1006.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.347;DP=86;Dels=0.00;FS=1.827;HRun=1;HaplotypeScore=2.9293;MQ=59.08;MQ0=0;MQRankSum=0.052;QD=11.70;ReadPosRankSum=1.865;VQSLOD=5.3015;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,39:86:99:1036,0,1234 1 65860687 65860687 A C exonic DNAJC6 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 0.76 0.98 0.63 0.79 0.59 0.68 0.6468 0.9275 0.6401 0.7779 0.5711 0.5854 0.6432 0.6842 0.7 0.91 0.58 0.75 0.59 rs4582839 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6417 0.9344 0.6394 0.6601 0.7720 0.5838 0.5806 0.6251 0.6891 0.6869 0.9266 0.6229 0.6867 0.7386 0.5885 0.5716 0.6316 het 2129.05 190 1 65860687 . A C 2129.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.886;DP=190;Dels=0.00;FS=6.138;HRun=2;HaplotypeScore=6.6598;MQ=58.45;MQ0=0;MQRankSum=0.279;QD=11.21;ReadPosRankSum=-0.308;VQSLOD=3.8943;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:103,86:190:99:2159,0,2717 1 66831370 66831370 G A exonic PDE4B synonymous SNV PDE4B:NM_001037339:exon6:c.G789A:p.E263E,PDE4B:NM_001297442:exon6:c.G606A:p.E202E,PDE4B:NM_001037340:exon11:c.G1260A:p.E420E,PDE4B:NM_001297440:exon12:c.G1029A:p.E343E,PDE4B:NM_001297441:exon12:c.G1080A:p.E360E,PDE4B:NM_001037341:exon13:c.G1305A:p.E435E,PDE4B:NM_002600:exon13:c.G1305A:p.E435E 0.52 0.79 0.45 0.15 0.49 0.59 0.4868 0.7496 0.4869 0.1337 0.4829 0.4773 0.4666 0.5459 0.57 0.74 0.48 0.59 0.5 rs783036 COSM5618830;COSM5618831;COSM5618832 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4819 0.7621 0.4862 0.5003 0.1314 0.4795 0.4792 0.4777 0.5407 0.5486 0.7495 0.5048 0.4934 0.1197 0.4969 0.4963 0.5082 hom 1313.46 42 1 66831370 . G A 1313.46 Mask AC=2;AF=1.00;AN=2;DP=42;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.88;MQ0=0;QD=31.27;VQSLOD=8.9479;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,42:42:99:1346,105,0 1 67109335 67109335 A G exonic SGIP1 nonsynonymous SNV SGIP1:NM_001350218:exon6:c.A320G:p.K107R,SGIP1:NM_001308203:exon7:c.A320G:p.K107R,SGIP1:NM_001350217:exon7:c.A404G:p.K135R,SGIP1:NM_032291:exon7:c.A392G:p.K131R 0.28 0.43 0.29 0.27 0.14 0.23 0.2145 0.3782 0.3420 0.2787 0.1569 0.1596 0.2037 0.2342 0.22 0.37 0.15 0.36 0.17 rs7526812 COSM3997636;COSM3997635;COSM146539 1(stomach);3(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 0.209 0.197 T 0.006 0.126 B 0.003 0.080 B 0.000 0.559 D 0.999 0.301 P 0.755 0.192 N 2.26 0.176 T -0.86 0.268 N 0.042 0.068 -1.031 0.202 T 0.017 0.068 T . . . 3.225 0.447 22.8 0.987 0.444 0.861 0.450 D c -0.114 0.066 0.981 0.302 0.563 0.310 0 5.3 0.746 2.817 0.475 1.199 0.960 1.000 0.715 1.000 0.888 11.489 0.494 . ENSG00000152760.5|ENSG00000152760.5|ENSG00000152760.5|ENSG00000152760.5|ENSG00000118473.17 Adrenal_Gland|Cells_Transformed_fibroblasts|Lung|Whole_Blood|Whole_Blood 0.2109 0.3816 0.3261 0.1699 0.2703 0.1456 0.1582 0.1960 0.2234 0.2291 0.3773 0.3270 0.1656 0.295 0.1517 0.1537 0.1660 het 2372.60 180 1 67109335 . A G 2372.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.219;DP=180;Dels=0.00;FS=7.139;HRun=1;HaplotypeScore=5.8463;MQ=59.60;MQ0=0;MQRankSum=-1.321;QD=13.18;ReadPosRankSum=0.640;VQSLOD=4.1909;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:92,88:180:99:2403,0,2582 1 67266756 67266756 T A exonic INSL5 nonsynonymous SNV INSL5:NM_005478:exon1:c.A149T:p.Q50L 0.87 0.78 0.89 0.99 0.83 0.9 0.8764 0.8042 0.8691 0.9951 0.9146 0.8666 0.8612 0.8897 0.84 0.81 0.86 0.84 0.85 rs549148 COSM5904686 1(skin) . . . . . . . . . . . 0.973 0.020 T 0.0 0.026 B 0.0 0.013 B 0.091 0.025 N 1 0.090 P -2.455 0.001 N -2.49 0.892 D 2.09 0.004 N 0.035 0.015 -0.901 0.479 T 0.076 0.305 T . . . -1.428 0.019 0.003 0.211 0.008 0.000 0.002 N c -2.289 -2.249 0.002 0.089 0.487 0.133 0 -5.74 0.022 -0.204 0.093 -1.529 0.010 0.000 0.063 0.001 0.043 6.518 0.213 Insulin-like . . 0.8774 0.7995 0.8706 0.8889 0.9959 0.9079 0.8621 0.8757 0.8873 0.8671 0.8079 0.8675 0.8576 0.9957 0.9147 0.8746 0.9002 hom 3956.73 133 1 67266756 . T A 3956.73 Mask AC=2;AF=1.00;AN=2;DP=133;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0918;MQ=58.02;MQ0=0;QD=29.75;VQSLOD=5.8005;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,133:133:99:3956,295,0 1 67288045 67288045 C T exonic WDR78 nonsynonymous SNV WDR78:NM_024763:exon16:c.G2495A:p.R832Q 0.51 0.55 0.54 0.64 0.48 0.35 0.5009 0.5654 0.5993 0.6522 0.3515 0.4902 0.4944 0.4115 0.52 0.56 0.49 0.5 0.5 rs482082 COSM3997640 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.429 0.096 T 0.002 0.119 B 0.002 0.080 B 0.089 0.204 N 0.920 0.278 P 2.25 0.640 M 0.96 0.429 T -0.1 0.108 N 0.034 0.067 -1.057 0.125 T 0.031 0.133 T . . . 1.859 0.284 15.34 0.706 0.091 0.319 0.242 N c -0.795 -0.683 0.000 0.012 0.554 0.246 0 2.34 0.279 1.612 0.363 -1.646 0.008 0.999 0.424 0.009 0.108 6.452 0.210 . . . 0.4973 0.5654 0.5855 0.4950 0.6517 0.3453 0.4948 0.4871 0.4053 0.4984 0.5590 0.5889 0.5199 0.6286 0.3520 0.4804 0.4580 hom 2420.16 76 1 67288045 . C T 2420.16 Mask AC=2;AF=1.00;AN=2;DP=76;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.12;MQ0=0;QD=31.84;VQSLOD=9.0691;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,76:76:99:2453,187,0 1 67390416 67390416 G C exonic WDR78 nonsynonymous SNV WDR78:NM_024763:exon1:c.C99G:p.C33W,WDR78:NM_207014:exon1:c.C99G:p.C33W 0.84 0.84 0.83 0.88 0.73 0.89 0.7845 0.8313 0.8854 0.8752 0.6343 0.7426 0.7819 0.8661 0.77 0.84 0.73 0.8 0.72 rs3008858 . . . . . . . . . . . . . 0.201 0.203 T 0.0 0.026 B 0.0 0.013 B 0.038 0.018 N 1 0.199 P 0 0.065 N 0.29 0.589 T -0.1 0.085 N 0.081 0.074 -1.105 0.036 T 0.028 0.118 T . . . -0.145 0.081 1.419 0.589 0.060 0.003 0.017 N c -1.531 -1.589 1.000 0.747 0.025 0.001 3 -3.46 0.044 -2.331 0.012 0.023 0.146 0.000 0.063 0.000 0.016 1.902 0.030 . ENSG00000198160.10|ENSG00000198160.10|ENSG00000198160.10|ENSG00000152763.12|ENSG00000198160.10|ENSG00000152763.12|ENSG00000231080.1|ENSG00000152763.12|ENSG00000152763.12|ENSG00000198160.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis|Testis|Thyroid|Whole_Blood 0.7857 0.8357 0.8756 0.8125 0.8754 0.6390 0.7432 0.7767 0.8658 0.7685 0.8406 0.8469 0.8642 0.8619 0.6440 0.7405 0.7454 hom 4636.40 147 1 67390416 . G C 4636.40 Mask AC=2;AF=1.00;AN=2;DP=147;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.2156;MQ=59.31;MQ0=0;QD=31.54;VQSLOD=5.9440;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,147:147:99:4635,388,0 1 67390468 67390468 C G exonic WDR78 nonsynonymous SNV WDR78:NM_024763:exon1:c.G47C:p.G16A,WDR78:NM_207014:exon1:c.G47C:p.G16A 0.84 0.86 0.84 0.88 0.73 0.89 0.7859 0.8447 0.8858 0.8757 0.6343 0.7429 0.7819 0.8661 0.77 0.85 0.73 0.74 0.73 rs1886686 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.700 0.101 N 1 0.212 P -1.39 0.006 N 0.26 0.593 T 0.21 0.048 N 0.048 0.029 -0.993 0.317 T 0.018 0.075 T . . . -1.294 0.022 0.005 0.651 0.075 0.004 0.020 N c -1.346 -1.275 1.000 0.747 0.025 0.001 3 2.2 0.268 0.941 0.284 0.083 0.191 0.414 0.261 0.002 0.062 4.406 0.108 . ENSG00000198160.10|ENSG00000198160.10|ENSG00000198160.10|ENSG00000152763.12|ENSG00000198160.10|ENSG00000198160.10|ENSG00000152763.12|ENSG00000231080.1|ENSG00000152763.12|ENSG00000198160.10|ENSG00000152763.12|ENSG00000198160.10 Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Artery_Tibial|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Nerve_Tibial|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.7868 0.8496 0.8765 0.8125 0.8756 0.6390 0.7434 0.7778 0.8658 0.7720 0.8530 0.8481 0.8642 0.8617 0.6442 0.7403 0.7469 hom 6707.13 220 1 67390468 . C G 6707.13 Mask AC=2;AF=1.00;AN=2;DP=220;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.6433;MQ=58.70;MQ0=0;QD=30.49;VQSLOD=8.3366;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:6706,509,0 1 67450431 67450431 A G exonic MIER1 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,MIER1:NM_001350530:exon16:c.A1657G:p.R553G 0.0066 . 0.013 . 0.021 0.0031 0.0149 0.0033 0.0096 0.0003 0.0047 0.0231 0.0156 0.0040 0.019 0.0044 0.026 . 0.049 rs17129563 . . . . . . . . . . . . . 0.011 0.574 D 0.065 0.266 B 0.015 0.166 B 0.000 0.445 D 0.995 0.810 D 1.78 0.463 L 0.53 0.551 T -1.57 0.379 N 0.254 0.310 -1.073 0.086 T 0.055 0.234 T . . . 3.799 0.513 23.4 0.995 0.671 0.912 0.529 D c -0.107 0.088 1.000 0.747 0.731 0.878 0 5.55 0.832 4.312 0.587 1.199 0.960 1.000 0.715 1.000 0.888 14.582 0.677 . . . 0.0147 0.0035 0.0125 0.0100 0.0002 0.0047 0.0244 0.0146 0.0040 0.0145 0.0041 0.0143 0.0132 0 0.0040 0.0243 0.0184 het 1260.61 104 1 67450431 . A G 1260.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.529;DP=104;Dels=0.00;FS=1.621;HRun=1;HaplotypeScore=6.7777;MQ=59.38;MQ0=0;MQRankSum=0.144;QD=12.12;ReadPosRankSum=-1.450;VQSLOD=4.3072;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:57,47:104:99:1291,0,1675 1 67558739 67558739 C T exonic C1orf141 synonymous SNV C1orf141:NM_001276351:exon8:c.G1152A:p.T384T 0.92 0.92 0.91 0.97 0.81 0.98 0.8872 0.9091 0.9403 0.9725 0.7715 0.8553 0.8830 0.9670 0.88 0.92 0.86 0.94 0.79 rs6588237 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8857 0.9083 0.9351 0.8721 0.9702 0.7667 0.8582 0.8692 0.9659 0.8716 0.9102 0.9165 0.8709 0.9753 0.7742 0.8597 0.8490 hom 1475.56 51 1 67558739 . C T 1475.56 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=28.93;VQSLOD=13.2219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:51:99:1509,123,0 1 67560956 67560956 C T exonic C1orf141 nonsynonymous SNV C1orf141:NM_001276351:exon7:c.G565A:p.V189I 0.94 0.99 0.92 0.97 0.81 0.98 0.8923 0.9662 0.9421 0.9720 0.7709 0.8554 0.8863 0.9676 0.89 0.96 0.86 0.97 0.82 rs11208997 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.052 0.230 N 1.000 0.588 P -0.975 0.012 N 2.09 0.201 T 0.87 0.017 N 0.081 0.243 -0.913 0.466 T 0.005 0.015 T . . . -0.007 0.093 2.522 0.073 0.000 0.007 0.031 N c -1.013 -0.783 0.960 0.284 0.497 0.185 0 4.38 0.519 1.010 0.293 0.145 0.233 1.000 0.715 0.561 0.281 7.485 0.264 . ENSG00000152763.12 Testis 0.8884 0.9672 0.9372 0.8736 0.9705 0.7670 0.8583 0.8700 0.9661 0.8878 0.9672 0.9177 0.8709 0.9753 0.7739 0.8598 0.8510 hom 2610.95 92 1 67560956 . C T 2610.95 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.55;MQ0=0;QD=28.38;VQSLOD=8.0024;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2644,202,0 1 67633812 67633812 G T exonic IL23R nonsynonymous SNV IL23R:NM_144701:exon2:c.G9T:p.Q3H 0.53 0.47 0.37 0.64 0.52 0.62 0.5285 0.4910 0.3401 0.6498 0.4998 0.5295 0.5176 0.6286 0.52 0.5 0.53 0.41 0.57 rs1884444 COSM3751376 1(large_intestine) . . . . . . . . . . . 0.381 0.111 T 0.002 0.090 B 0.005 0.104 B 0.329 0.141 N 1 0.090 P 1.955 0.530 M -1.97 0.852 D 0.05 0.064 N 0.068 0.055 -1.029 0.207 T 0.181 0.529 T . . . 2.109 0.315 16.92 0.950 0.253 0.129 0.173 N c -0.675 -0.587 0.001 0.076 0.554 0.283 0 2.03 0.256 0.735 0.256 0.045 0.158 0.358 0.256 0.003 0.074 5.912 0.182 . . . 0.5240 0.4936 0.3546 0.5974 0.6438 0.5002 0.5309 0.5024 0.6294 0.5148 0.4905 0.4005 0.6074 0.6459 0.5006 0.5241 0.4898 hom 4539.65 149 1 67633812 . G T 4539.65 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6281;MQ=59.19;MQ0=0;QD=30.47;VQSLOD=9.3352;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4539,355,0 1 67685387 67685387 T C exonic IL23R nonsynonymous SNV IL23R:NM_144701:exon7:c.T929C:p.L310P 0.88 0.76 0.85 0.99 0.86 0.95 0.8776 0.7680 0.9220 0.9831 0.8461 0.8626 0.8789 0.9334 0.83 0.76 0.87 0.85 0.85 rs7530511 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.012 0.291 N 1.000 0.189 P -2.655 0.000 N 0.61 0.535 T 3.73 0.001 N 0.136 0.471 -1.067 0.102 T 0.044 0.190 T . . . -0.550 0.053 0.165 0.066 0.000 0.001 0.005 N c -1.168 -1.022 0.001 0.085 0.554 0.283 0 4.88 0.630 2.370 0.436 0.066 0.173 0.195 0.240 0.053 0.166 10.070 0.413 Fibronectin type III|Immunoglobulin-like fold . . 0.8827 0.7688 0.9133 0.8960 0.9856 0.8447 0.8660 0.8802 0.9328 0.8409 0.7675 0.9021 0.8907 0.9864 0.8477 0.8604 0.8620 hom 4124.07 145 1 67685387 . T C 4124.07 Mask AC=2;AF=1.00;AN=2;DP=145;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.1363;MQ=59.48;MQ0=0;QD=28.44;VQSLOD=7.6581;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,145:145:99:4123,331,0 1 67795319 67795319 T C exonic IL12RB2 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,IL12RB2:NM_001319233:exon7:c.T714C:p.S238S 0.85 0.72 0.9 0.81 0.98 0.91 0.9317 0.7517 0.8707 0.7884 0.9790 0.9861 0.9383 0.9243 0.91 0.76 0.99 0.85 0.98 rs1495963 COSM3997645 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9325 0.7474 0.8730 0.9790 0.7828 0.9799 0.9868 0.9440 0.9252 0.9025 0.7543 0.8780 0.9702 0.7861 0.9771 0.9802 0.9542 hom 2784.26 90 1 67795319 . T C 2784.26 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=30.94;VQSLOD=9.1573;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2817,226,0 1 67833527 67833527 G C exonic IL12RB2 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,IL12RB2:NM_001319233:exon11:c.G1278C:p.Q426H 0.039 0.073 0.052 . 0.051 0.01 0.0386 0.0766 0.0295 0 0.0251 0.0470 0.0396 0.0130 0.059 0.079 0.049 0.065 0.082 rs2307145 . . . . . . . . . . . . . 0.142 0.254 T 0.008 0.135 B 0.065 0.259 B 0.722 0.099 N 0.883 0.280 P 2.52 0.738 M 0.38 0.576 T -0.66 0.191 N 0.031 0.021 -1.032 0.198 T 0.069 0.284 T . . . 1.010 0.191 10.72 0.947 0.247 0.093 0.149 N c -0.564 -0.564 1.000 0.747 0.638 0.428 0 1.98 0.252 0.058 0.141 1.048 0.713 0.032 0.204 0.860 0.359 5.164 0.143 Fibronectin type III|Immunoglobulin-like fold|Long hematopoietin receptor\x2c Gp130 family 2\x2c conserved site . . 0.0388 0.0791 0.0337 0.0784 0 0.0255 0.0467 0.0442 0.0137 0.0503 0.0792 0.0370 0.0927 0 0.0303 0.0439 0.0439 het 3102.50 250 1 67833527 . G C 3102.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.817;DP=250;DS;Dels=0.00;FS=2.992;HRun=0;HaplotypeScore=4.7446;MQ=59.40;MQ0=0;MQRankSum=-0.680;QD=12.41;ReadPosRankSum=0.860;VQSLOD=4.9554;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,122:250:99:3132,0,3536 1 67852335 67852335 G A exonic IL12RB2 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,IL12RB2:NM_001319233:exon15:c.G1929A:p.T643T 0.41 0.2 0.47 0.34 0.58 0.56 0.5277 0.2248 0.4921 0.3391 0.6899 0.5786 0.5584 0.5700 0.46 0.23 0.57 0.3 0.54 rs2228420 COSM3747066 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5306 0.2164 0.4858 0.4603 0.3358 0.6902 0.5804 0.5352 0.5698 0.4845 0.2278 0.5060 0.45 0.3265 0.6871 0.5971 0.5724 het 2448.66 206 1 67852335 . G A 2448.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.750;DP=206;DS;Dels=0.00;FS=7.221;HRun=0;HaplotypeScore=2.7649;MQ=59.28;MQ0=0;MQRankSum=-0.936;QD=11.89;ReadPosRankSum=-0.563;VQSLOD=4.7553;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:109,97:206:99:2479,0,2850 1 67861520 67861520 C A exonic IL12RB2 synonymous SNV IL12RB2:NM_001258215:exon14:c.C2079A:p.P693P,IL12RB2:NM_001559:exon16:c.C2337A:p.P779P 0.56 0.51 0.59 0.38 0.68 0.65 0.6307 0.5100 0.5697 0.3711 0.7455 0.6760 0.6567 0.6546 0.61 0.51 0.67 0.59 0.68 rs2229546 COSM3997647 1(haematopoietic_and_lymphoid_tissue);1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6307 0.5052 0.5694 0.6672 0.3676 0.7463 0.6739 0.6436 0.6532 0.6228 0.5063 0.6002 0.6854 0.3666 0.7467 0.6864 0.6653 hom 8263.56 242 1 67861520 . C A 8263.56 Mask AC=2;AF=1.00;AN=2;DP=242;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2038;MQ=59.31;MQ0=0;QD=34.15;VQSLOD=8.9912;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:242:99:8263,656,0 1 68624878 68624878 C T exonic WLS 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 0.35 0.24 0.45 0.41 0.36 0.35 0.3638 0.2484 0.4021 0.4601 0.4586 0.3532 0.3998 0.3622 0.31 0.25 0.34 0.25 0.29 rs3748705 COSM3751378;COSM3751377 2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3668 0.2457 0.4003 0.2846 0.4552 0.4590 0.3515 0.3547 0.3582 0.3512 0.2466 0.3878 0.2881 0.4590 0.4628 0.3720 0.3765 het 2138.18 170 1 68624878 . C T 2138.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.083;DP=170;Dels=0.00;FS=0.622;HRun=0;HaplotypeScore=1.9799;MQ=59.04;MQ0=0;MQRankSum=-0.924;QD=12.58;ReadPosRankSum=-0.424;VQSLOD=6.3643;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:87,83:170:99:2168,0,2089 1 72058552 72058552 G A exonic NEGR1 synonymous SNV NEGR1:NM_173808:exon6:c.C888T:p.T296T 0.85 0.66 0.93 0.85 1. 0.9 0.9433 0.6864 0.9309 0.8724 0.9968 0.9973 0.9659 0.9104 0.9 0.7 1. 0.81 0.99 rs1413368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9473 0.6761 0.9257 0.9899 0.8751 0.9966 0.9977 0.9695 0.9096 0.9005 0.6864 0.9236 0.9868 0.8747 0.9954 0.9979 0.9664 hom 2639.71 82 1 72058552 . G A 2639.71 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9789;MQ=59.72;MQ0=0;QD=32.19;VQSLOD=9.1087;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2673,205,0 1 74575182 74575182 C T exonic LRRIQ3 nonsynonymous SNV LRRIQ3:NM_001105659:exon5:c.G763A:p.A255T,LRRIQ3:NM_001322315:exon5:c.G763A:p.A255T 0.8 0.51 0.89 0.96 0.91 0.89 0.8853 0.5709 0.8775 0.9674 0.8483 0.9196 0.9045 0.9098 0.82 0.59 0.93 0.42 0.8 rs1340472 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.69 0.019 N 3.23 0.273 T 0.28 0.042 N 0.011 0.002 -0.974 0.364 T 0.004 0.012 T . . . -1.140 0.027 0.008 0.059 0.000 0.001 0.005 N c -1.769 -1.715 0.000 0.012 0.487 0.133 0 -1.36 0.086 -1.794 0.018 0.118 0.209 0.000 0.063 0.131 0.199 2.849 0.052 . ENSG00000237324.2|ENSG00000237324.2|ENSG00000254685.2|ENSG00000237324.2|ENSG00000259030.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000259030.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000254685.2|ENSG00000254685.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000237324.2|ENSG00000237324.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Colon_Sigmoid|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Thyroid 0.8867 0.5586 0.8692 0.9525 0.9668 0.8530 0.9196 0.9004 0.9102 0.8080 0.5638 0.8886 0.9470 0.9728 0.8494 0.9128 0.8616 hom 825.91 30 1 74575182 . C T 825.91 Mask AC=2;AF=1.00;AN=2;DP=30;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.45;MQ0=0;QD=27.53;VQSLOD=8.3828;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,30:30:69.19:859,69,0 1 74665493 74665493 G A exonic FPGT;FPGT-TNNI3K synonymous SNV FPGT-TNNI3K:NM_001112808:exon2:c.G267A:p.V89V,FPGT-TNNI3K:NM_001199327:exon2:c.G267A:p.V89V,FPGT:NM_001199328:exon2:c.G267A:p.V89V,FPGT:NM_001199329:exon2:c.G267A:p.V89V,FPGT:NM_003838:exon2:c.G267A:p.V89V 0.45 0.16 0.39 0.74 0.46 0.55 0.4794 0.2126 0.4536 0.7391 0.4802 0.4720 0.5308 0.5554 0.4 0.23 0.48 0.34 0.47 rs792310 COSM3751380 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4846 0.2082 0.4401 0.5457 0.7410 0.4827 0.4716 0.4784 0.5558 0.4132 0.2174 0.4603 0.5629 0.7321 0.5075 0.4638 0.4308 hom 3348.48 115 1 74665493 . G A 3348.48 Mask AC=2;AF=1.00;AN=2;DP=115;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8667;MQ=58.66;MQ0=0;QD=29.12;VQSLOD=8.6776;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,115:115:99:3348,250,0 1 75036812 75036812 C T exonic ERICH3 nonsynonymous SNV ERICH3:NM_001002912:exon14:c.G4582A:p.V1528M 0.97 0.91 1. 1. 1. 1. 0.9918 0.9087 0.9969 1 1 0.9999 0.9945 0.9999 0.97 0.92 1. 0.98 1. rs9326116 . . . . . . . . . . . . . 0.416 0.099 T 0.005 0.119 B 0.006 0.112 B . . . 1 0.090 P -0.345 0.033 N 2.5 0.144 T 0.11 0.057 N 0.008 0.000 -0.929 0.444 T 0.004 0.014 T . . . -0.375 0.063 0.445 0.181 0.006 0.003 0.014 N c -2.060 -2.112 0.042 0.145 0.549 0.223 0 -6.58 0.017 -0.707 0.051 -2.509 0.003 0.000 0.063 0.000 0.016 5.253 0.147 . . . 0.9938 0.9085 0.9973 1 0.9999 1 0.9998 0.9980 0.9999 0.9741 0.9089 0.9940 1 1 1 1 0.9969 hom 7889.53 249 1 75036812 . C T 7889.53 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.2736;MQ=59.55;MQ0=0;QD=31.68;VQSLOD=7.2232;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7889,623,0 1 75097426 75097426 G C exonic ERICH3 nonsynonymous SNV ERICH3:NM_001002912:exon7:c.C790G:p.P264A 0.32 0.23 0.47 0.11 0.53 0.34 0.4339 0.2884 0.4528 0.1351 0.4112 0.5155 0.4404 0.3481 0.46 0.32 0.53 0.3 0.53 rs11210490 COSM4785139;COSM3751383 1(large_intestine) . . . . . . . . . . . 0.01 0.564 D 0.944 0.657 P 0.572 0.616 P . . . 0.043 0.380 P 2.615 0.767 M 2.43 0.219 T -4.11 0.769 D 0.164 0.198 -1.055 0.129 T 0.067 0.274 T . . . 1.841 0.282 15.23 0.936 0.228 0.874 0.467 D c 0.117 0.041 0.000 0.068 0.487 0.133 0 3.49 0.389 2.680 0.463 0.142 0.226 1.000 0.715 0.756 0.323 9.857 0.401 . . . 0.4386 0.2842 0.4595 0.5195 0.1397 0.4170 0.5202 0.4671 0.3514 0.4112 0.2877 0.4654 0.5033 0.1547 0.4203 0.5023 0.4292 hom 2924.54 92 1 75097426 . G C 2924.54 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.75;MQ0=0;QD=31.79;VQSLOD=8.5766;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2958,226,0 1 75172001 75172001 T A exonic CRYZ 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 0.22 0.035 0.37 0.11 0.46 0.22 0.3573 0.0913 0.3573 0.1076 0.3579 0.4554 0.4007 0.2547 0.34 0.11 0.46 0.22 0.5 rs7527057 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3629 0.0819 0.3663 0.4087 0.1070 0.3652 0.4644 0.3837 0.2488 0.3202 0.0879 0.3720 0.3633 0.1077 0.3622 0.4621 0.3645 het 946.94 73 1 75172001 . T A 946.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.018;DP=73;Dels=0.00;FS=4.718;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;MQRankSum=0.083;QD=12.97;ReadPosRankSum=-0.439;VQSLOD=4.4772;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,41:73:99:977,0,772 1 75190452 75190452 C T exonic CRYZ 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 0.77 0.83 0.8 0.77 0.75 0.71 0.7529 0.8116 0.8580 0.7896 0.7194 0.7394 0.7324 0.6920 0.77 0.81 0.74 0.76 0.75 rs1051122 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7548 0.8156 0.8555 0.6912 0.7843 0.7157 0.7432 0.7320 0.6928 0.7625 0.8077 0.8373 0.6589 0.7900 0.7257 0.7421 0.7244 hom 2597.27 97 1 75190452 . C T 2597.27 Mask AC=2;AF=1.00;AN=2;DP=97;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5783;MQ=58.71;MQ0=0;QD=26.78;VQSLOD=7.1865;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,97:97:99:2630,205,0 1 75622616 75622616 C T exonic LHX8 synonymous SNV LHX8:NM_001256114:exon8:c.C819T:p.H273H,LHX8:NM_001001933:exon9:c.C849T:p.H283H 0.39 0.48 0.3 0.21 0.39 0.55 0.4105 0.4700 0.3034 0.1995 0.3591 0.4237 0.3811 0.5270 0.43 0.46 0.41 0.4 0.44 rs941032 COSM3997664 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4013 0.4691 0.3046 0.4081 0.2048 0.3612 0.4244 0.3806 0.5297 0.4176 0.4589 0.3529 0.4073 0.2301 0.3615 0.4298 0.4330 het 2945.30 248 1 75622616 . C T 2945.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.002;DP=248;DS;Dels=0.00;FS=3.587;HRun=0;HaplotypeScore=0.6651;MQ=59.07;MQ0=0;MQRankSum=0.012;QD=11.88;ReadPosRankSum=0.696;VQSLOD=6.4540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:133,115:248:99:2975,0,3455 1 75681511 75681511 T C exonic SLC44A5 synonymous SNV SLC44A5:NM_001320283:exon17:c.A1638G:p.Q546Q,SLC44A5:NM_001130058:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_152697:exon19:c.A1656G:p.Q552Q,SLC44A5:NM_001320287:exon20:c.A1530G:p.Q510Q,SLC44A5:NM_001320285:exon21:c.A1530G:p.Q510Q 0.9 0.88 0.89 1. 0.83 0.9 0.8680 0.8653 0.8968 0.9945 0.8446 0.8441 0.8400 0.8909 0.85 0.86 0.84 0.84 0.75 rs595009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8692 0.8658 0.8940 0.8366 0.9945 0.8421 0.8464 0.8478 0.8902 0.8618 0.8634 0.8950 0.8477 0.9944 0.8521 0.8479 0.8535 het 525.17 64 1 75681511 . T C 525.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.329;DP=64;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.47;MQ0=0;MQRankSum=1.018;QD=8.21;ReadPosRankSum=0.321;VQSLOD=5.7493;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,26:64:99:555,0,998 1 75716925 75716925 C T exonic SLC44A5 synonymous SNV SLC44A5:NM_001320283:exon5:c.G297A:p.V99V,SLC44A5:NM_001130058:exon7:c.G315A:p.V105V,SLC44A5:NM_152697:exon7:c.G315A:p.V105V,SLC44A5:NM_001320287:exon8:c.G189A:p.V63V,SLC44A5:NM_001320285:exon9:c.G189A:p.V63V 0.74 0.54 0.76 0.95 0.73 0.81 0.7398 0.5635 0.8420 0.9316 0.7224 0.7223 0.7196 0.7579 0.68 0.57 0.73 0.67 0.65 rs588098 COSM4144186;COSM4144185 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7458 0.5602 0.8364 0.6899 0.9317 0.7254 0.7236 0.7390 0.7496 0.6943 0.5769 0.8103 0.6821 0.9242 0.7298 0.7221 0.7143 hom 2165.01 82 1 75716925 . C T 2165.01 Mask AC=2;AF=1.00;AN=2;DP=82;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7678;MQ=58.93;MQ0=0;QD=26.40;VQSLOD=6.7425;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,82:82:99:2198,166,0 1 76198785 76198785 G A exonic ACADM synonymous SNV ACADM:NM_001286043:exon5:c.G336A:p.A112A 0.23 0.29 0.33 0.023 0.32 0.21 0.2730 0.2847 0.3031 0.0278 0.2810 0.3177 0.2666 0.1980 0.32 0.29 0.33 0.2 . rs3818855 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2754 0.2882 0.3093 0.2202 0.0267 0.2819 0.3268 0.2999 0.2010 0.2929 0.2939 0.2995 0.1921 0.0290 0.2781 0.3259 0.2941 het 895.16 82 1 76198785 . G A 895.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.125;DP=82;Dels=0.00;FS=0.835;HRun=0;HaplotypeScore=0.0000;MQ=59.01;MQ0=0;MQRankSum=1.070;QD=10.92;ReadPosRankSum=0.014;VQSLOD=6.4619;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,36:82:99:925,0,995 1 76227022 76227022 A G exonic ACADM synonymous SNV ACADM:NM_001286044:exon8:c.A594G:p.V198V,ACADM:NM_001286042:exon10:c.A1053G:p.V351V,ACADM:NM_000016:exon11:c.A1161G:p.V387V,ACADM:NM_001127328:exon11:c.A1173G:p.V391V,ACADM:NM_001286043:exon12:c.A1260G:p.V420V 0.17 0.14 0.25 0.023 0.3 0.2 0.2333 0.1473 0.2040 0.0273 0.2542 0.2885 0.2285 0.1846 0.25 0.16 0.3 0.17 0.23 rs1061337 COSM5038163;COSM5038164 1(skin) Benign|Likely benign not_specified|Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency RCV000077878.6|RCV000327270.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0220710:201450:ORPHA42:128596003 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2347 0.1460 0.2144 0.2101 0.0258 0.2563 0.2950 0.2639 0.1876 0.2308 0.1540 0.2189 0.1788 0.0290 0.2564 0.2914 0.2571 het 1825.26 116 1 76227022 . A G 1825.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.813;DP=116;Dels=0.00;FS=4.795;HRun=1;HaplotypeScore=1.4942;MQ=59.44;MQ0=0;MQRankSum=-1.840;QD=15.74;ReadPosRankSum=-0.802;VQSLOD=4.9856;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:52,64:116:99:1855,0,1378 1 76257892 76257892 A T exonic RABGGTB synonymous SNV RABGGTB:NM_004582:exon7:c.A606T:p.A202A 0.9 0.99 0.81 0.74 0.94 0.95 0.8991 0.9765 0.7313 0.7359 0.8951 0.9263 0.9251 0.9434 0.95 0.97 0.94 0.95 0.73 rs12703 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8920 0.9758 0.7400 0.9368 0.7385 0.8963 0.9296 0.9055 0.9458 0.9159 0.9761 0.7613 0.9371 0.7559 0.8923 0.9131 0.8982 hom 3093.39 91 1 76257892 . A T 3093.39 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.75;MQ0=0;QD=33.99;VQSLOD=9.3022;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:3126,244,0 1 76344705 76344705 T C exonic MSH4 synonymous SNV MSH4:NM_002440:exon12:c.T1569C:p.Y523Y 0.34 0.024 0.23 0.7 0.3 0.5 0.3450 0.0773 0.2664 0.6986 0.2861 0.3235 0.3215 0.4939 0.24 0.086 0.32 0.27 0.28 rs5745448 COSM3747078;COSM3747077 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3448 0.0691 0.2642 0.3050 0.7043 0.2906 0.3270 0.3005 0.4931 0.2719 0.0799 0.2667 0.2649 0.7197 0.2944 0.3281 0.3112 hom 2026.43 68 1 76344705 . T C 2026.43 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.11;MQ0=0;QD=29.80;VQSLOD=8.6457;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2059,153,0 1 76344711 76344711 A T exonic MSH4 synonymous SNV MSH4:NM_002440:exon12:c.A1575T:p.L525L 0.79 0.68 0.78 0.99 0.75 0.79 0.7963 0.7108 0.8371 0.9873 0.8060 0.7715 0.8223 0.8161 0.74 0.71 0.76 0.75 0.75 rs5745449 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7981 0.7089 0.8259 0.8286 0.9875 0.8069 0.7654 0.7782 0.8119 0.7759 0.7147 0.8234 0.8377 0.9833 0.8055 0.7774 0.7898 hom 2150.45 75 1 76344711 . A T 2150.45 Mask AC=2;AF=1.00;AN=2;DP=75;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.29;MQ0=0;QD=28.67;VQSLOD=8.1308;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,75:75:99:2183,166,0 1 76397972 76397972 C T exonic ASB17 nonsynonymous SNV ASB17:NM_080868:exon1:c.G5A:p.S2N 0.4 0.19 0.3 0.71 0.32 0.5 0.3856 0.2039 0.3538 0.7095 0.3116 0.3525 0.3516 0.5236 0.3 0.2 0.35 0.32 0.3 rs3795251 COSM3735983 1(liver);1(skin) . . . . . . . . . . . 0.216 0.192 T 0.002 0.090 B 0.002 0.063 B 0.003 0.350 N 0.990 0.242 P 0.46 0.130 N 1.3 0.356 T 0.53 0.028 N 0.046 0.026 -1.034 0.190 T 0.019 0.079 T . . . 1.428 0.234 12.93 0.905 0.192 0.647 0.322 D c -0.799 -0.628 0.000 0.012 0.487 0.133 0 3.13 0.349 1.337 0.332 -0.880 0.027 1.000 0.715 0.892 0.376 8.176 0.303 . ENSG00000057468.6|ENSG00000230863.2|ENSG00000057468.6 Muscle_Skeletal|Testis|Testis 0.3827 0.1960 0.3508 0.3139 0.7144 0.3159 0.3559 0.3385 0.5009 0.3301 0.2070 0.3473 0.2733 0.7335 0.3176 0.3604 0.3480 hom 1720.63 58 1 76397972 . C T 1720.63 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.84;MQ0=0;QD=29.67;VQSLOD=8.6711;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1754,138,0 1 77634948 77634948 G A exonic PIGK synonymous SNV PIGK:NM_005482:exon4:c.C372T:p.Y124Y 0.99 0.95 1. 1. 1. 1. 0.9955 0.9526 0.9982 1 1 0.9997 0.9967 0.9998 0.98 0.95 1. 0.96 0.9 rs1779199 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9965 0.9523 0.9980 0.9966 1 1 0.9999 0.9978 0.9998 0.9844 0.9456 0.9952 1 1 1 0.9999 0.9969 hom 1547.05 50 1 77634948 . G A 1547.05 Mask AC=2;AF=1.00;AN=2;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.75;MQ0=0;QD=30.94;VQSLOD=8.8264;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,50:50:99:1580,123,0 1 77759578 77759578 A G exonic AK5 synonymous SNV AK5:NM_012093:exon3:c.A270G:p.A90A,AK5:NM_174858:exon3:c.A348G:p.A116A 0.12 0.061 0.1 0.14 0.2 0.084 0.1681 0.0703 0.0740 0.1384 0.2874 0.2097 0.1600 0.0954 0.16 0.076 0.21 0.076 0.16 rs2815311 COSM3997667 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1650 0.0691 0.0780 0.0907 0.1396 0.2827 0.2105 0.1662 0.0936 0.1756 0.0747 0.0895 0.1026 0.1533 0.3064 0.2100 0.2163 het 1173.16 77 1 77759578 . A G 1173.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.858;DP=77;Dels=0.00;FS=10.060;HRun=1;HaplotypeScore=1.8279;MQ=59.52;MQ0=0;MQRankSum=-0.749;QD=15.24;ReadPosRankSum=0.966;VQSLOD=3.6112;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:32,45:77:99:1203,0,923 1 77763542 77763542 G A exonic AK5 synonymous SNV AK5:NM_012093:exon5:c.G531A:p.K177K,AK5:NM_174858:exon5:c.G609A:p.K203K 0.98 0.93 0.99 1. 1. 1. 0.9955 0.9504 0.9979 1 1 1.0000 0.9989 1 0.98 0.95 1. 0.99 1. rs1167206 . . Benign not_specified RCV000454614.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9483 0.9978 1 1 1 0.9999 0.9991 1 0.9856 0.9498 0.9988 1 1 1 0.9998 0.9949 hom 1710.07 58 1 77763542 . G A 1710.07 Mask AC=2;AF=1.00;AN=2;DP=58;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.6651;MQ=59.60;MQ0=0;QD=29.48;VQSLOD=7.8991;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,58:58:99:1743,135,0 1 78024345 78024345 - TAT exonic AK5 nonframeshift insertion AK5:NM_012093:exon14:c.1601_1602insTAT:p.I535_F536insI,AK5:NM_174858:exon14:c.1679_1680insTAT:p.I561_F562insI 0.62 0.33 0.82 0.74 0.75 0.62 0.7135 0.3898 0.8362 0.7415 0.6975 0.7544 0.7015 0.6591 0.64 0.41 0.76 . . rs79671213 COSM4603455 19(upper_aerodigestive_tract);6(central_nervous_system) Benign not_specified RCV000454873.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7230 0.3872 0.8355 0.5896 0.7453 0.6972 0.7670 0.6955 0.6610 0.6576 0.4003 0.8425 0.6225 0.7335 0.7095 0.7752 0.6977 het 2795.82 112 1 78024345 . C CTAT 2795.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.033;DP=112;FS=1.580;HRun=0;HaplotypeScore=378.0882;MQ=58.24;MQ0=0;MQRankSum=-1.163;QD=24.96;ReadPosRankSum=1.087;set=variant2 GT:AD:DP:GQ:PL 0/1:64,47:112:99:2835,0,2206 1 78184325 78184325 A G exonic USP33 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 0.36 0.44 0.2 0.27 0.27 0.52 0.2947 0.4207 0.1798 0.2668 0.2921 0.2541 0.3274 0.4756 0.3 0.4 0.25 0.38 0.27 rs12142671 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2851 0.4128 0.1715 0.4299 0.2600 0.2949 0.2416 0.3094 0.4642 0.2911 0.4052 0.1722 0.4106 0.2719 0.2811 0.2322 0.3098 het 519.15 56 1 78184325 . A G 519.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.706;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.66;MQ0=0;MQRankSum=-0.679;QD=9.27;ReadPosRankSum=0.176;VQSLOD=6.4814;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,22:56:99:549,0,849 1 78201745 78201745 G T exonic USP33 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 0.49 0.75 0.26 0.41 0.33 0.55 0.3660 0.6916 0.2149 0.3797 0.3355 0.3078 0.3877 0.5059 0.43 0.68 0.3 0.5 0.16 rs2296227 COSM3751392 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3544 0.6919 0.2148 0.4957 0.3777 0.3389 0.2958 0.3849 0.5002 0.4092 0.6844 0.2200 0.4702 0.3691 0.3253 0.2847 0.3701 het 1653.17 151 1 78201745 . G T 1653.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.678;DP=151;Dels=0.00;FS=1.303;HRun=1;HaplotypeScore=3.6713;MQ=59.39;MQ0=0;MQRankSum=0.580;QD=10.95;ReadPosRankSum=-0.118;VQSLOD=6.4011;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:85,66:151:99:1683,0,1938 1 78280825 78280825 C T exonic MIGA1 synonymous SNV MIGA1:NM_001270384:exon7:c.C804T:p.L268L,MIGA1:NM_198549:exon7:c.C804T:p.L268L 0.0004 . . . 0.002 . 0.0033 0.0012 0.0003 0.0001 0.0043 0.0052 0.0034 0.0006 0.0035 0.0014 0.0047 . . rs34847707 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0038 0.0010 0.0004 0.0285 5.929e-05 0.0038 0.0043 0.0052 0.0006 0.0034 0.0015 0 0.0364 0 0.0034 0.0041 0.0081 het 513.29 41 1 78280825 . C T 513.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.183;DP=41;Dels=0.00;FS=12.143;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=1.760;QD=12.52;ReadPosRankSum=-0.146;VQSLOD=3.6589;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:17,24:41:99:543,0,454 1 79392756 79392756 C A exonic ADGRL4 nonsynonymous SNV ADGRL4:NM_022159:exon8:c.G898T:p.V300L 0.62 0.49 0.68 0.7 0.62 0.66 0.6478 0.5149 0.7028 0.6999 0.6762 0.6430 0.6417 0.6698 0.6 0.53 0.64 0.62 0.48 rs12754818 COSM3751404 2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.189 P -2.085 0.002 N 2.73 0.119 T -0.39 0.136 N 0.096 0.097 -0.917 0.460 T 0.003 0.009 T . . . 1.469 0.239 13.15 0.412 0.029 0.197 0.206 N c -0.774 -0.497 0.000 0.072 0.707 0.730 0 3.74 0.419 1.395 0.339 -0.529 0.049 1.000 0.715 0.876 0.367 5.264 0.148 GAIN domain\x2c N-terminal . . 0.6507 0.5085 0.6979 0.6085 0.7047 0.6684 0.6435 0.6459 0.6677 0.6195 0.5201 0.6743 0.5894 0.6900 0.6559 0.6570 0.6497 hom 1219.08 43 1 79392756 . C A 1219.08 Mask AC=2;AF=1.00;AN=2;DP=43;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;QD=28.35;VQSLOD=8.4675;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,43:43:93.30:1252,93,0 1 82421596 82421596 C T exonic ADGRL2 synonymous SNV ADGRL2:NM_001297705:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297706:exon9:c.C1818T:p.P606P,ADGRL2:NM_001350699:exon9:c.C1818T:p.P606P,ADGRL2:NM_012302:exon9:c.C1818T:p.P606P,ADGRL2:NM_001297704:exon10:c.C1818T:p.P606P,ADGRL2:NM_001330645:exon10:c.C1857T:p.P619P,ADGRL2:NM_001350698:exon11:c.C1869T:p.P623P 0.99 0.98 0.99 1. 1. 1. 0.9979 0.9770 0.9987 1 1 1.0000 1 1 0.99 0.98 1. 0.98 0.98 rs11163397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9984 0.9768 0.9990 1 1 1 1.0000 0.9996 1.0000 0.9936 0.9778 0.9976 1 1 1 1 0.9969 hom 4015.60 134 1 82421596 . C T 4015.60 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.602;DP=134;Dels=0.00;FS=3.457;HRun=0;HaplotypeScore=1.9315;MQ=59.83;MQ0=0;MQRankSum=-1.680;QD=29.97;ReadPosRankSum=0.378;VQSLOD=4.2090;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,133:134:99:3982,271,0 1 82453022 82453022 A G exonic ADGRL2 synonymous SNV ADGRL2:NM_001297705:exon20:c.A3507G:p.L1169L 0.0046 0.0008 0.0014 . 0.018 0.0031 0.0092 0.0034 0.0018 0 0.0065 0.0147 0.0072 0.0019 0.01 0.0051 0.012 0.022 . rs76995529 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0086 0.0024 0.0022 0.0108 0 0.0058 0.0153 0.0071 0.0016 0.0073 0.0034 0.0024 0.0066 0 0.0049 0.0112 0.0061 het 255.19 31 1 82453022 . A G 255.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.002;DP=31;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.7608;MQ=58.79;MQ0=0;MQRankSum=0.723;QD=8.23;ReadPosRankSum=1.094;VQSLOD=5.2431;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:20,11:31:99:285,0,545 1 85009894 85009894 A G exonic SPATA1 nonsynonymous SNV SPATA1:NM_001310156:exon9:c.A793G:p.K265E 0.24 0.23 0.16 0.2 0.21 0.36 0.3230 0.3025 0.2245 0.2464 0.2557 0.3269 0.3059 0.4090 0.23 0.25 0.22 0.24 . rs12143652 COSM1126937 1(skin);1(prostate) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2163 0.2374 0.1025 0.2560 0.1716 0.1733 0.2231 0.2028 0.3587 0.2087 0.2350 0.1289 0.1987 0.1768 0.1646 0.2121 0.2031 het 148.64 19 1 85009894 . A G 148.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.096;DP=19;Dels=0.00;FS=2.077;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=0.044;QD=7.82;ReadPosRankSum=0.395;VQSLOD=5.9180;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:179,0,284 1 85016177 85016177 A G exonic SPATA1 synonymous SNV SPATA1:NM_001310156:exon12:c.A1254G:p.L418L 0.48 0.76 0.41 0.26 0.35 0.49 0.5023 0.7362 0.4706 0.3609 0.4414 0.4652 0.4646 0.5507 0.46 0.68 0.36 0.59 . rs1400777 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3744 0.7055 0.3086 0.3556 0.2168 0.3024 0.3613 0.3593 0.5055 0.4362 0.7023 0.3628 0.3344 0.2363 0.2938 0.3464 0.3678 hom 552.23 21 1 85016177 . A G 552.23 Mask AC=2;AF=1.00;AN=2;DP=21;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=26.30;VQSLOD=13.6355;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,21:21:42.14:585,42,0 1 85029077 85029077 C T exonic CTBS nonsynonymous SNV CTBS:NM_004388:exon6:c.G820A:p.V274I 0.15 0.11 0.13 0.03 0.2 0.28 0.1973 0.1332 0.0813 0.0316 0.1818 0.2228 0.2104 0.3068 0.19 0.13 0.22 0.18 0.25 rs15911 COSM4144198 1(pancreas);1(thyroid) . . . . . . . . . . . 0.109 0.292 T 0.489 0.351 P 0.257 0.376 B 0.000 0.497 D 0.017 0.399 P 3.1 0.878 M 3.21 0.071 T -0.63 0.185 N 0.039 0.019 -1.041 0.170 T 0.014 0.055 T . . . 3.178 0.441 22.7 0.996 0.747 0.862 0.452 D c 0.027 0.041 0.969 0.290 0.732 0.924 0 2.56 0.297 0.738 0.256 0.935 0.490 0.991 0.370 0.996 0.625 5.745 0.173 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase\x2c catalytic domain ENSG00000122432.12|ENSG00000122432.12|ENSG00000174021.6|ENSG00000122432.12 Nerve_Tibial|Testis|Thyroid|Thyroid 0.1923 0.1259 0.0867 0.2608 0.0341 0.1746 0.2191 0.1846 0.3043 0.1661 0.1179 0.1178 0.1987 0.0425 0.1669 0.2085 0.1789 het 422.28 43 1 85029077 . C T 422.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.556;DP=43;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.8941;MQ=60.00;MQ0=0;MQRankSum=-0.768;QD=9.82;ReadPosRankSum=-0.038;VQSLOD=5.9861;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,20:43:99:452,0,597 1 85031630 85031630 G A exonic CTBS synonymous SNV CTBS:NM_004388:exon4:c.C591T:p.I197I 0.3 0.34 0.26 0.23 0.25 0.38 0.2713 0.3292 0.2030 0.2140 0.1991 0.2607 0.2676 0.3846 0.28 0.33 0.26 0.32 0.33 rs2994953 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2591 0.3165 0.1965 0.3129 0.2095 0.1949 0.2547 0.2439 0.3750 0.2576 0.3238 0.2488 0.2567 0.2289 0.1840 0.2418 0.2244 het 1479.50 90 1 85031630 . G A 1479.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.035;DP=90;Dels=0.00;FS=2.968;HRun=1;HaplotypeScore=0.5784;MQ=59.12;MQ0=0;MQRankSum=0.353;QD=16.44;ReadPosRankSum=1.255;VQSLOD=6.0757;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,53:90:99:1509,0,820 1 85039955 85039955 G A exonic CTBS synonymous SNV CTBS:NM_004388:exon1:c.C144T:p.L48L 0.27 0.26 0.25 0.23 0.25 0.39 0.3475 0.3431 0.2988 0.2918 0.3072 0.3361 0.3862 0.4284 0.25 0.25 0.25 0.23 0.16 rs2303307 COSM1561051 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2633 0.2551 0.2043 0.3436 0.2197 0.2032 0.2556 0.2579 0.3933 0.2427 0.2528 0.2368 0.2872 0.2287 0.1964 0.2492 0.2346 het 166.12 15 1 85039955 . G A 166.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.927;DP=15;Dels=0.00;FS=9.249;HRun=1;HaplotypeScore=0.8941;MQ=58.45;MQ0=0;MQRankSum=-1.324;QD=11.07;ReadPosRankSum=-0.150;VQSLOD=4.2887;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:7,8:15:99:196,0,215 1 85488030 85488030 G A exonic MCOLN3 synonymous SNV MCOLN3:NM_001253693:exon9:c.C981T:p.L327L,MCOLN3:NM_018298:exon10:c.C1149T:p.L383L 0.8 0.83 0.75 0.73 0.84 0.8 0.8234 0.8339 0.7250 0.7368 0.8109 0.8549 0.8238 0.8086 0.85 0.83 0.86 0.84 0.84 rs2028304 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8190 0.8336 0.7314 0.8811 0.7373 0.8155 0.8535 0.8275 0.8091 0.8341 0.8351 0.7446 0.8676 0.7419 0.8268 0.8494 0.8337 hom 2858.17 96 1 85488030 . G A 2858.17 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=59.35;MQ0=0;QD=29.77;VQSLOD=9.0061;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:2891,220,0 1 85594466 85594466 G A exonic WDR63 nonsynonymous SNV WDR63:NM_001288563:exon20:c.G2276A:p.R759H,WDR63:NM_145172:exon21:c.G2393A:p.R798H 0.22 0.32 0.24 0.21 0.18 0.097 0.1751 0.3079 0.2040 0.2373 0.1649 0.1678 0.1788 0.0735 0.21 0.3 0.17 0.23 0.15 rs709783 COSM1344585 1(pancreas);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.009 0.305 N 0.914 0.274 P -1.9 0.002 N 1.08 0.394 T 3.25 0.001 N 0.028 0.055 -1.026 0.216 T 0.016 0.064 T . . . 1.678 0.263 14.28 0.615 0.066 0.236 0.219 N c -0.752 -0.513 0.568 0.215 0.554 0.246 0 3.49 0.389 1.149 0.310 -0.199 0.102 0.954 0.330 0.926 0.400 9.915 0.404 WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain;WD40/YVTN repeat-like-containing domain ENSG00000162643.8|ENSG00000162643.8 Cells_Transformed_fibroblasts|Testis 0.1733 0.3085 0.1955 0.2365 0.2317 0.1640 0.1623 0.1849 0.0725 0.2089 0.2992 0.1974 0.2119 0.2401 0.1694 0.1661 0.1605 het 952.30 125 1 85594466 . G A 952.30 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.327;DP=125;Dels=0.00;FS=2.495;HRun=0;HaplotypeScore=4.2355;MQ=58.44;MQ0=0;MQRankSum=0.482;QD=7.62;ReadPosRankSum=-0.659;VQSLOD=4.9086;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:80,43:125:99:982,0,1801 1 85624549 85624549 C T exonic SYDE2 nonsynonymous SNV SYDE2:NM_032184:exon7:c.G3469A:p.V1157I 1. 1. 1. 1. 1. 1. 0.9995 0.9961 0.9999 1 1 0.9996 1 0.9999 1. 1. 1. 1. . rs709786 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.481 N 1.000 0.186 P -2.1 0.002 N 0.99 0.418 T 0.24 0.045 N 0.017 0.005 -0.946 0.416 T 0.009 0.033 T . . . 0.328 0.126 5.960 0.281 0.014 0.162 0.191 N c -0.881 -0.613 0.776 0.237 0.638 0.428 0 2.56 0.297 2.143 0.416 0.154 0.240 0.990 0.367 0.995 0.604 6.744 0.225 . . . 0.9996 0.9965 1.0000 1 1 1 0.9997 1 0.9999 0.9986 0.9955 1 1 1 1 0.9998 1 hom 957.97 34 1 85624549 . C T 957.97 Mask AC=2;AF=1.00;AN=2;DP=34;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;QD=28.18;VQSLOD=8.6517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,34:34:75.24:991,75,0 1 85624864 85624864 G A exonic SYDE2 synonymous SNV SYDE2:NM_032184:exon7:c.C3154T:p.L1052L 0.98 0.93 0.99 1. 1. 1. 0.9956 0.9487 0.9982 1 1 0.9999 0.9978 0.9999 0.99 0.95 1. 0.99 . rs817412 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9468 0.9977 1 1 1 0.9999 0.9976 0.9998 0.9844 0.9451 0.9988 1 1 1 1 0.9969 hom 3482.47 102 1 85624864 . G A 3482.47 Mask AC=2;AF=1.00;AN=2;DP=102;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.5226;MQ=59.18;MQ0=0;QD=34.14;VQSLOD=9.6517;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3482,274,0 1 85648620 85648620 C T exonic SYDE2 nonsynonymous SNV SYDE2:NM_032184:exon3:c.G1705A:p.V569I 0.98 0.93 0.99 1. 1. 1. 0.9953 0.9455 0.9978 1 1 0.9999 0.9978 0.9999 0.98 0.95 1. 0.99 . rs817443 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.919 0.085 N 1 0.090 P -0.55 0.024 N 3.34 0.061 T -0.26 0.112 N 0.008 0.003 -0.913 0.465 T 0.001 0.004 T . . . -1.053 0.030 0.012 0.356 0.022 0.005 0.025 N c -1.382 -1.207 0.959 0.283 0.554 0.283 0 -1.28 0.088 -0.574 0.059 0.154 0.240 0.001 0.137 0.914 0.390 7.034 0.240 . . . 0.9960 0.9433 0.9974 1 1 1 0.9999 0.9971 0.9998 0.9838 0.9429 0.9988 1 1 1 1 0.9959 hom 5164.93 170 1 85648620 . C T 5164.93 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=5.2820;MQ=58.77;MQ0=0;QD=30.38;VQSLOD=7.9478;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:5164,403,0 1 85742012 85742012 G C exonic BCL10 synonymous SNV BCL10:NM_001320715:exon1:c.C24G:p.L8L,BCL10:NM_003921:exon1:c.C24G:p.L8L 0.23 0.27 0.2 0.074 0.31 0.27 0.2755 0.2510 0.1866 0.0773 0.3180 0.3150 0.3073 0.2792 0.29 0.25 0.31 0.28 0.36 rs11576939 COSM4144206 1(thyroid) Benign not_specified RCV000455048.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2720 0.2455 0.1899 0.3332 0.0762 0.3155 0.3151 0.2852 0.2764 0.2826 0.2455 0.2045 0.3477 0.0759 0.3263 0.3191 0.2888 hom 1904.60 61 1 85742012 . G C 1904.60 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9332;MQ=59.39;MQ0=0;QD=31.22;VQSLOD=9.3508;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1938,147,0 1 86173943 86173943 C T exonic ZNHIT6 nonsynonymous SNV ZNHIT6:NM_001170670:exon1:c.G25A:p.G9R,ZNHIT6:NM_017953:exon1:c.G25A:p.G9R 0.025 0.0061 0.045 . 0.075 0.0092 0.0591 0.0117 0.0378 0.0001 0.0751 0.0841 0.0529 0.0245 0.06 0.018 0.082 0.011 0.11 rs17399721 . . . . . . . . . . . . . 0.026 0.555 D 0.839 0.480 P 0.276 0.384 B 0.765 0.096 N 1 0.090 N 0.55 0.145 N 0.86 0.468 T -0.96 0.255 N 0.082 0.081 -1.089 0.058 T 0.046 0.198 T . . . 3.584 0.488 23.2 0.993 0.582 0.824 0.414 D c -0.067 -0.109 1.000 0.747 0.442 0.072 0 3.81 0.429 3.182 0.504 0.883 0.387 0.233 0.245 0.576 0.284 11.495 0.495 . ENSG00000117174.6|ENSG00000117174.6 Lung|Thyroid 0.0586 0.0110 0.0409 0.0949 5.805e-05 0.0762 0.0819 0.0692 0.0247 0.0524 0.0147 0.0537 0.0828 0 0.0678 0.0747 0.0704 het 2021.26 145 1 86173943 . C T 2021.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.188;DP=145;Dels=0.00;FS=7.519;HRun=2;HaplotypeScore=2.5141;MQ=59.58;MQ0=0;MQRankSum=0.855;QD=13.94;ReadPosRankSum=1.164;VQSLOD=4.8205;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,78:145:99:2051,0,1995 1 86375654 86375654 C G exonic COL24A1 synonymous SNV COL24A1:NM_001349955:exon26:c.G549C:p.P183P,COL24A1:NM_152890:exon26:c.G2649C:p.P883P 0.69 0.57 0.78 0.8 0.7 0.67 0.7044 0.6028 0.8058 0.7997 0.6884 0.7039 0.71 0.6525 0.67 0.62 0.7 0.65 0.66 rs1502657 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7100 0.6008 0.7967 0.7579 0.7969 0.6981 0.6986 0.7342 0.6512 0.6717 0.6015 0.7770 0.7649 0.7729 0.6847 0.6889 0.7012 hom 3940.37 135 1 86375654 . C G 3940.37 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.7046;MQ=58.55;MQ0=0;QD=29.19;VQSLOD=8.5443;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:3940,298,0 1 86557967 86557967 G A exonic COL24A1 nonsynonymous SNV COL24A1:NM_152890:exon6:c.C1636T:p.P546S 0.37 0.36 0.45 0.38 0.38 0.31 0.3614 0.3563 0.3926 0.3950 0.2671 0.3751 0.3733 0.3068 0.37 0.35 0.38 0.39 0.34 rs11161732 COSM3997686 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.017 0.512 D 0.0 0.119 B 0.0 0.139 B 0.045 0.236 N 1.000 0.192 P 0.47 0.131 N -3.21 0.933 D 1.12 0.012 N 0.049 0.084 -0.568 0.661 T 0.363 0.724 T . . . 2.193 0.325 17.46 0.793 0.122 0.621 0.314 D c -0.505 -0.290 0.000 0.065 0.554 0.246 0 3.91 0.442 2.469 0.445 0.015 0.141 1.000 0.715 0.970 0.461 11.155 0.475 . ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10 Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Nerve_Tibial|Ovary|Skin_Sun_Exposed_Lower_leg|Thyroid 0.3644 0.3551 0.4148 0.4536 0.3868 0.2648 0.3745 0.3861 0.3057 0.3550 0.3534 0.4069 0.4503 0.3876 0.2826 0.3652 0.3439 het 388.43 39 1 86557967 . G A 388.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.629;DP=39;Dels=0.00;FS=4.977;HRun=0;HaplotypeScore=1.9512;MQ=60.00;MQ0=0;MQRankSum=-1.402;QD=9.96;ReadPosRankSum=0.411;VQSLOD=5.0253;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:22,17:39:99:418,0,545 1 86590915 86590915 G A exonic COL24A1 synonymous SNV COL24A1:NM_152890:exon3:c.C1104T:p.S368S 0.96 0.89 0.99 0.97 1. 1. 0.9892 0.9084 0.9953 0.9693 1 0.9989 0.9978 0.9998 0.97 0.92 1. 0.96 0.99 rs2174767 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9906 0.9086 0.9958 0.9878 0.9693 1 0.9994 0.9934 0.9996 0.9729 0.9109 0.9928 0.9868 0.9773 1 0.9997 0.9898 hom 4279.46 140 1 86590915 . G A 4279.46 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.4942;MQ=59.84;MQ0=0;QD=30.57;VQSLOD=8.9055;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4279,340,0 1 86590948 86590948 A G exonic COL24A1 synonymous SNV COL24A1:NM_152890:exon3:c.T1071C:p.S357S 0.14 0.079 0.16 0.06 0.17 0.25 0.1631 0.0824 0.1901 0.0646 0.2624 0.1528 0.1689 0.2450 0.13 0.086 0.15 0.12 0.11 rs11161746 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1638 0.0821 0.1862 0.0793 0.0640 0.2603 0.1517 0.1480 0.2397 0.1487 0.0883 0.1623 0.0828 0.0652 0.2438 0.1668 0.2171 het 1348.27 115 1 86590948 . A G 1348.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.636;DP=115;Dels=0.00;FS=1.515;HRun=0;HaplotypeScore=0.0000;MQ=59.80;MQ0=0;MQRankSum=0.665;QD=11.72;ReadPosRankSum=-0.710;VQSLOD=6.5517;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:66,49:115:99:1378,0,1751 1 86591209 86591209 C T exonic COL24A1 synonymous SNV COL24A1:NM_152890:exon3:c.G810A:p.P270P . . . . . . 0.0001 0 0 0 0 0.0002 0 0.0002 0.0002 . 0.0002 . . rs372411859 COSM4617858 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0001 0.0001 2.992e-05 0.0001 5.801e-05 0 0.0003 0 9.747e-05 0.0002 0 0 0 0 0 0.0003 0 het 1316.22 116 1 86591209 . C T 1316.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.979;DP=116;Dels=0.00;FS=8.740;HRun=0;HaplotypeScore=2.2426;MQ=59.80;MQ0=0;MQRankSum=1.319;QD=11.35;ReadPosRankSum=-0.456;VQSLOD=2.8190;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:60,55:116:99:1346,0,1616 1 86591837 86591837 G A exonic COL24A1 nonsynonymous SNV COL24A1:NM_152890:exon3:c.C182T:p.A61V 0.65 0.54 0.72 0.62 0.74 0.66 0.7053 0.5715 0.7325 0.6218 0.6578 0.7430 0.7220 0.6746 0.7 0.6 0.74 0.49 0.74 rs11161747 COSM5438811 1(oesophagus) . . . . . . . . . . . 0.44 0.092 T 0.0 0.026 B 0.0 0.013 B 0.285 0.149 N 1 0.090 P -0.83 0.015 N -2.68 0.904 D 0.4 0.035 N 0.006 0.176 -1.011 0.266 T 0.185 0.534 T . . . 1.160 0.206 11.53 0.788 0.121 0.174 0.196 N c -0.782 -0.596 0.000 0.012 0.554 0.246 0 0.032 0.134 -0.025 0.123 0.201 0.252 0.457 0.264 0.999 0.750 0.961 0.013 Concanavalin A-like lectin/glucanase domain ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10|ENSG00000171502.10 Artery_Aorta|Brain_Caudate_basal_ganglia|Brain_Putamen_basal_ganglia|Nerve_Tibial 0.7080 0.5722 0.7282 0.7809 0.6190 0.6592 0.7434 0.7329 0.6787 0.6724 0.5679 0.7345 0.7848 0.6423 0.6759 0.7284 0.6916 het 921.89 72 1 86591837 . G A 921.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.841;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7012;MQ=59.74;MQ0=0;MQRankSum=-0.539;QD=12.80;ReadPosRankSum=-0.412;VQSLOD=6.3796;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:31,40:72:99:952,0,804 1 86818572 86818572 T C exonic ODF2L 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 0.74 0.76 0.66 0.83 0.65 0.79 0.6915 0.7572 0.6304 0.8324 0.7032 0.6544 0.7164 0.7608 0.69 0.76 0.65 0.77 0.43 rs272496 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6847 0.7531 0.6265 0.6670 0.8205 0.7057 0.6489 0.6869 0.7577 0.6986 0.7582 0.6376 0.6788 0.8243 0.7013 0.6551 0.6738 het 900.12 81 1 86818572 . T C 900.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.215;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.9671;MQ=59.25;MQ0=0;MQRankSum=0.263;QD=11.11;ReadPosRankSum=-0.703;VQSLOD=5.7956;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,34:81:99:930,0,1134 1 86820267 86820267 C T exonic ODF2L 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 0.75 0.78 0.67 0.83 0.66 0.8 0.7020 0.7764 0.6369 0.8313 0.7254 0.6625 0.7252 0.7815 0.7 0.77 0.66 0.79 0.58 rs1182098 COSM3747088;COSM3747089;COSM3747087 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6982 0.7741 0.6382 0.6814 0.8212 0.7270 0.6598 0.6988 0.7807 0.7134 0.7778 0.6483 0.6987 0.8251 0.7233 0.6666 0.6955 het 1133.77 92 1 86820267 . C T 1133.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.101;DP=92;Dels=0.00;FS=1.697;HRun=1;HaplotypeScore=0.9469;MQ=59.19;MQ0=0;MQRankSum=0.273;QD=12.32;ReadPosRankSum=-0.687;VQSLOD=6.8087;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,45:92:99:1164,0,1201 1 86838158 86838158 C T exonic ODF2L 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 0.75 0.78 0.67 0.83 0.66 0.8 0.7161 0.7767 0.6507 0.8350 0.7340 0.6778 0.7275 0.7798 0.7 0.77 0.66 0.77 0.11 rs421105 COSM3747091;COSM3747090;COSM3747092 1(urinary_tract);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6697 0.7479 0.5792 0.6613 0.7960 0.7188 0.6328 0.6631 0.7578 0.7143 0.7786 0.6473 0.6987 0.8253 0.7235 0.6679 0.6977 het 133.29 26 1 86838158 . C T 133.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.639;DP=26;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9979;MQ=57.57;MQ0=0;MQRankSum=1.583;QD=5.13;ReadPosRankSum=1.417;VQSLOD=4.5461;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:18,8:26:99:163,0,415 1 86852621 86852621 A G exonic ODF2L 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 0.31 0.24 0.26 0.42 0.32 0.35 0.3304 0.2699 0.2941 0.4036 0.3266 0.3356 0.3260 0.3361 0.32 0.27 0.34 0.33 0.28 rs2390096 COSM3751425;COSM146551;COSM3751426 1(stomach);1(haematopoietic_and_lymphoid_tissue);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3275 0.2598 0.2836 0.3032 0.3940 0.3321 0.3389 0.3290 0.3338 0.3291 0.2769 0.3101 0.2633 0.4187 0.3317 0.3526 0.3152 het 1811.27 150 1 86852621 . A G 1811.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.411;DP=150;Dels=0.00;FS=2.102;HRun=0;HaplotypeScore=7.6577;MQ=59.10;MQ0=0;MQRankSum=0.162;QD=12.08;ReadPosRankSum=-0.109;VQSLOD=4.1490;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:77,73:150:99:1841,0,1772 1 86900332 86900332 T C exonic CLCA2 synonymous SNV CLCA2:NM_006536:exon6:c.T876C:p.N292N 0.23 0.15 0.32 0.18 0.34 0.23 0.2978 0.1680 0.3596 0.1784 0.2756 0.3366 0.2797 0.2517 0.28 0.17 0.34 0.18 0.37 rs17449526 COSM3997687 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3019 0.1698 0.3583 0.3214 0.1849 0.2741 0.3388 0.3008 0.2523 0.2731 0.1747 0.3493 0.2980 0.1789 0.2772 0.3325 0.3086 het 3033.32 235 1 86900332 . T C 3033.32 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.928;DP=235;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8136;MQ=58.89;MQ0=0;MQRankSum=0.289;QD=12.91;ReadPosRankSum=-0.913;VQSLOD=6.1406;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:118,117:235:99:3063,0,3151 1 86900372 86900372 C G exonic CLCA2 nonsynonymous SNV CLCA2:NM_006536:exon6:c.C916G:p.Q306E 0.23 0.15 0.32 0.18 0.34 0.23 0.2977 0.1679 0.3594 0.1782 0.2757 0.3366 0.2786 0.2518 0.28 0.17 0.34 0.18 0.36 rs17409304 . . . . . . . . . . . . . 0.012 0.546 D 0.976 0.564 D 0.523 0.465 P 0.000 0.843 D 0.007 0.418 P 3.03 0.867 M 3.87 0.036 T -2.06 0.471 N 0.114 0.124 -1.097 0.044 T 0.018 0.076 T . . . 5.962 0.819 27.7 0.995 0.667 0.954 0.643 D c 0.688 0.697 0.995 0.338 0.516 0.203 0 5.21 0.719 4.375 0.591 0.935 0.490 0.998 0.411 0.682 0.305 16.064 0.806 . ENSG00000137975.7|ENSG00000122417.11|ENSG00000137975.7|ENSG00000137975.7|ENSG00000137975.7 Adipose_Subcutaneous|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg 0.3019 0.1697 0.3583 0.3213 0.1847 0.2740 0.3387 0.3008 0.2524 0.2732 0.1745 0.3508 0.2980 0.1778 0.2774 0.3328 0.3086 het 3046.29 224 1 86900372 . C G 3046.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.499;DP=224;Dels=0.00;FS=3.169;HRun=0;HaplotypeScore=7.6424;MQ=58.75;MQ0=0;MQRankSum=0.275;QD=13.60;ReadPosRankSum=0.497;VQSLOD=4.8692;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,114:224:99:3076,0,2815 1 86913265 86913265 C T exonic CLCA2 synonymous SNV CLCA2:NM_006536:exon11:c.C1788T:p.R596R 0.25 0.091 0.2 0.39 0.26 0.36 0.2790 0.1247 0.2558 0.3797 0.3006 0.2769 0.2874 0.3393 0.23 0.13 0.27 0.28 0.3 rs2275001 COSM3751427 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2828 0.1209 0.2523 0.2649 0.3789 0.3115 0.2791 0.2784 0.3419 0.2525 0.1276 0.2530 0.2384 0.3916 0.3108 0.2943 0.2933 het 2343.40 205 1 86913265 . C T 2343.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.501;DP=205;Dels=0.00;FS=9.348;HRun=0;HaplotypeScore=7.4567;MQ=59.16;MQ0=0;MQRankSum=1.191;QD=11.43;ReadPosRankSum=0.570;VQSLOD=3.4522;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:110,94:205:99:2373,0,2880 1 86920904 86920904 A G exonic CLCA2 synonymous SNV CLCA2:NM_006536:exon14:c.A2526G:p.Q842Q 0.33 0.21 0.24 0.44 0.34 0.43 0.3432 0.2466 0.2984 0.4193 0.3506 0.3371 0.3524 0.4165 0.3 0.25 0.33 0.38 0.33 rs2390057 COSM146552 1(stomach);1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3441 0.2417 0.2963 0.3458 0.4234 0.3604 0.3370 0.3444 0.4162 0.3235 0.2470 0.3026 0.3477 0.4504 0.3632 0.3440 0.3503 het 1187.09 97 1 86920904 . A G 1187.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.286;DP=97;Dels=0.00;FS=1.628;HRun=0;HaplotypeScore=0.9832;MQ=59.38;MQ0=0;MQRankSum=-0.620;QD=12.24;ReadPosRankSum=-0.105;VQSLOD=6.4379;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:53,44:97:99:1217,0,1330 1 86939130 86939130 C T exonic CLCA1 nonsynonymous SNV CLCA1:NM_001285:exon2:c.C193T:p.L65F 0.88 0.67 0.93 0.99 0.95 0.95 0.9404 0.7262 0.9710 0.9873 0.8798 0.9647 0.9350 0.9551 0.88 0.73 0.96 0.9 0.97 rs2145412 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.182 P -3.57 0.000 N 3.16 0.077 T 5.64 0.000 N 0.049 0.278 -0.922 0.453 T 0.001 0.005 T . . . 0.874 0.177 9.915 0.158 0.004 0.013 0.046 N c -0.881 -0.560 0.008 0.115 0.487 0.133 0 5.56 0.836 2.518 0.450 0.154 0.240 0.999 0.424 0.992 0.562 6.799 0.228 . . . 0.9437 0.7210 0.9694 0.9615 0.9859 0.8825 0.9672 0.9473 0.9557 0.8879 0.7324 0.9582 0.9437 0.9852 0.8882 0.9601 0.9286 hom 2762.57 89 1 86939130 . C T 2762.57 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=58.42;MQ0=0;QD=31.04;VQSLOD=8.9178;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2796,226,0 1 86947975 86947975 A T exonic CLCA1 synonymous SNV CLCA1:NM_001285:exon5:c.A645T:p.V215V 0.37 0.24 0.29 0.51 0.37 0.44 0.3709 0.2626 0.3511 0.4740 0.4151 0.3566 0.4053 0.4373 0.32 0.25 0.35 0.43 0.32 rs1321694 COSM3747094 1(liver);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3740 0.2586 0.3478 0.3992 0.4730 0.4232 0.3515 0.3887 0.4394 0.3478 0.2583 0.3729 0.38 0.5056 0.4321 0.3578 0.3990 het 654.75 72 1 86947975 . A T 654.75 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.053;DP=72;Dels=0.00;FS=0.949;HRun=1;HaplotypeScore=1.4725;MQ=58.81;MQ0=0;MQRankSum=0.497;QD=9.09;ReadPosRankSum=0.615;VQSLOD=6.4119;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,25:72:99:685,0,1238 1 86952324 86952324 A G exonic CLCA1 nonsynonymous SNV CLCA1:NM_001285:exon7:c.A1070G:p.N357S 0.89 0.94 0.91 0.85 0.83 0.89 0.8629 0.9339 0.9176 0.8719 0.8638 0.8334 0.8601 0.8939 0.87 0.93 0.84 0.89 0.81 rs2734705 COSM3747095 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.513 N 1.000 0.090 P -0.945 0.013 N 2.78 0.113 T 1.31 0.009 N 0.015 0.002 -0.912 0.466 T 0.003 0.009 T . . . 0.530 0.145 7.654 0.310 0.017 0.032 0.081 N c -0.724 -0.455 0.998 0.364 0.487 0.133 0 4.58 0.559 0.380 0.202 0.076 0.183 0.995 0.385 0.998 0.697 2.310 0.039 von Willebrand factor\x2c type A . . 0.8640 0.9374 0.9113 0.8605 0.8644 0.8615 0.8327 0.8521 0.8945 0.8678 0.9321 0.9045 0.8642 0.8606 0.8552 0.8328 0.8566 het 2114.05 166 1 86952324 . A G 2114.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.284;DP=166;Dels=0.00;FS=1.255;HRun=0;HaplotypeScore=3.2906;MQ=59.21;MQ0=0;MQRankSum=1.993;QD=12.74;ReadPosRankSum=-0.351;VQSLOD=6.0664;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:90,76:166:99:2144,0,2386 1 86959173 86959173 T C exonic CLCA1 nonsynonymous SNV CLCA1:NM_001285:exon10:c.T1571C:p.M524T 0.85 0.78 0.88 0.91 0.82 0.9 0.8419 0.7769 0.9019 0.9213 0.8529 0.8170 0.8458 0.8950 0.8 0.77 0.82 0.77 0.84 rs2791494 COSM3747096 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.938 0.076 N 1 0.090 P -1.78 0.003 N 1.67 0.273 T 2.02 0.004 N 0.016 0.005 -0.952 0.407 T 0.006 0.019 T . . . -1.339 0.021 0.004 0.198 0.007 0.002 0.009 N c -1.478 -1.377 0.000 0.012 0.447 0.083 0 0.353 0.152 -1.569 0.022 -0.473 0.054 0.000 0.063 0.300 0.237 5.316 0.151 . . . 0.8456 0.7795 0.8961 0.8458 0.9145 0.8508 0.8145 0.8341 0.8955 0.8174 0.7742 0.8998 0.8709 0.9098 0.8496 0.8174 0.8459 het 1438.85 104 1 86959173 . T C 1438.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.319;DP=104;Dels=0.00;FS=1.572;HRun=0;HaplotypeScore=2.9230;MQ=59.33;MQ0=0;MQRankSum=0.686;QD=13.84;ReadPosRankSum=0.764;VQSLOD=6.5865;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,57:104:99:1469,0,1272 1 86961210 86961210 C T exonic CLCA1 synonymous SNV CLCA1:NM_001285:exon12:c.C1965T:p.D655D 0.019 0.0053 0.033 0.005 0.04 0.019 0.0258 0.0073 0.0214 0.0014 0.0133 0.0354 0.0254 0.0194 0.028 0.007 0.038 0.033 0.016 rs5744408 COSM3997689 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0262 0.0073 0.0218 0.0363 0.0015 0.0127 0.0371 0.0332 0.0199 0.0202 0.0088 0.0167 0.0132 0.0006 0.0103 0.0316 0.0184 het 1941.12 151 1 86961210 . C T 1941.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.612;DP=151;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.63;MQ0=0;MQRankSum=0.423;QD=12.86;ReadPosRankSum=0.009;VQSLOD=6.3936;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,80:151:99:1971,0,1711 1 86965419 86965419 T C exonic CLCA1 synonymous SNV CLCA1:NM_001285:exon14:c.T2436C:p.T812T 0.35 0.28 0.23 0.54 0.26 0.43 0.2985 0.2720 0.2683 0.5561 0.2383 0.2558 0.3029 0.3975 0.26 0.27 0.26 0.33 0.3 rs1882753 COSM3751428 1(pancreas);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2961 0.2644 0.2618 0.2384 0.5513 0.2473 0.2598 0.2667 0.3966 0.2884 0.2701 0.2721 0.2781 0.5582 0.2440 0.2803 0.3055 het 1484.81 125 1 86965419 . T C 1484.81 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.666;DP=125;Dels=0.00;FS=4.639;HRun=1;HaplotypeScore=0.0000;MQ=59.25;MQ0=0;MQRankSum=-1.686;QD=11.88;ReadPosRankSum=-1.824;VQSLOD=4.7472;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:67,58:125:99:1515,0,1804 1 89225976 89225976 T C exonic PKN2 synonymous SNV PKN2:NM_001320707:exon3:c.T421C:p.L141L,PKN2:NM_001320709:exon3:c.T421C:p.L141L,PKN2:NM_006256:exon3:c.T421C:p.L141L 0.75 0.93 0.58 0.65 0.66 0.83 0.6929 0.8941 0.6180 0.6425 0.7251 0.6497 0.7078 0.8134 0.72 0.89 0.64 0.81 0.6 rs430600 COSM3997691;COSM3997692 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6824 0.8963 0.6175 0.6744 0.6454 0.7266 0.6360 0.6746 0.8093 0.7159 0.8853 0.5993 0.6424 0.6416 0.7334 0.6305 0.6930 het 1551.27 130 1 89225976 . T C 1551.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.591;DP=130;Dels=0.00;FS=1.454;HRun=2;HaplotypeScore=0.0000;MQ=58.81;MQ0=0;MQRankSum=0.826;QD=11.93;ReadPosRankSum=0.497;VQSLOD=6.3487;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:73,57:130:99:1581,0,1972 1 89271574 89271574 T C exonic PKN2 synonymous SNV PKN2:NM_001320707:exon11:c.T1533C:p.S511S,PKN2:NM_001320708:exon11:c.T1206C:p.S402S,PKN2:NM_001320709:exon12:c.T1629C:p.S543S,PKN2:NM_006256:exon12:c.T1677C:p.S559S 0.51 0.36 0.49 0.47 0.57 0.72 0.5640 0.3832 0.5147 0.4609 0.6298 0.5735 0.5911 0.6928 0.51 0.41 0.56 0.54 0.51 rs786906 COSM5438329 1(oesophagus) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5609 0.3775 0.5158 0.5971 0.4659 0.6327 0.5601 0.5832 0.6894 0.5101 0.3797 0.4916 0.5894 0.4701 0.6443 0.5524 0.6041 het 1334.51 104 1 89271574 . T C 1334.51 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.200;DP=104;Dels=0.00;FS=0.798;HRun=0;HaplotypeScore=4.8498;MQ=57.72;MQ0=0;MQRankSum=1.194;QD=12.83;ReadPosRankSum=-0.075;VQSLOD=4.9892;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:50,54:104:99:1365,0,1090 1 89322982 89322982 G A exonic GTF2B synonymous SNV GTF2B:NM_001514:exon6:c.C724T:p.L242L 0.99 0.95 1. 1. 1. 1. 0.9954 0.9492 0.9985 0.9999 1 1.0000 0.9978 0.9999 0.98 0.95 1. 0.97 0.98 rs2794318 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9964 0.9484 0.9978 1 0.9999 1 0.9999 0.9987 0.9999 0.9851 0.9480 0.9964 1 1 1 0.9999 0.9969 hom 3021.12 92 1 89322982 . G A 3021.12 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=32.84;VQSLOD=13.8514;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:3054,250,0 1 89426902 89426902 G A exonic KYAT3 synonymous SNV KYAT3:NM_001008662:exon7:c.C633T:p.S211S,KYAT3:NM_001008661:exon8:c.C735T:p.S245S,KYAT3:NM_001349447:exon8:c.C633T:p.S211S,KYAT3:NM_001349449:exon8:c.C243T:p.S81S,KYAT3:NM_001349448:exon9:c.C735T:p.S245S,KYAT3:NM_001349450:exon9:c.C243T:p.S81S 0.37 0.23 0.5 0.46 0.48 0.25 0.4373 0.2742 0.4878 0.4491 0.4486 0.4812 0.4492 0.3155 0.42 0.29 0.49 0.36 0.43 rs3738055 COSM146554 1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4432 0.2699 0.4829 0.4031 0.4451 0.4472 0.4912 0.4554 0.3184 0.4272 0.2767 0.5120 0.4040 0.4208 0.4335 0.5088 0.4398 het 2268.10 173 1 89426902 . G A 2268.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.667;DP=173;Dels=0.00;FS=1.967;HRun=0;HaplotypeScore=1.8490;MQ=59.55;MQ0=0;MQRankSum=-0.851;QD=13.11;ReadPosRankSum=0.156;VQSLOD=6.6066;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:84,88:173:99:2298,0,2093 1 89474818 89474818 A G exonic GBP3 nonsynonymous SNV GBP3:NM_001319180:exon10:c.T1069C:p.C357R,GBP3:NM_001319181:exon10:c.T1390C:p.C464R,GBP3:NM_018284:exon10:c.T1471C:p.C491R,GBP3:NM_001319179:exon11:c.T1234C:p.C412R 0.26 0.26 0.26 0.21 0.32 0.25 0.2829 0.2630 0.2135 0.1990 0.2275 0.3200 0.2949 0.2595 0.3 0.26 0.32 0.27 0.25 rs17433780 COSM3751431 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.046 0.235 N 1 0.090 P -3.065 0.000 N 4.7 0.017 T 4.84 0.000 N 0.059 0.308 -1.046 0.154 T 0.000 0.001 T . . . -1.792 0.011 0.002 0.111 0.002 0.002 0.014 N c -1.809 -1.672 0.003 0.101 0.563 0.310 0 1.68 0.231 0.450 0.213 -0.305 0.080 0.023 0.197 0.000 0.016 5.974 0.185 Guanylate-binding protein\x2c C-terminal ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.2815 0.2646 0.2240 0.3662 0.2015 0.2361 0.3216 0.2974 0.2551 0.2789 0.2722 0.2560 0.4007 0.1950 0.2194 0.3043 0.2822 hom 2488.52 77 1 89474818 . A G 2488.52 Mask AC=2;AF=1.00;AN=2;DP=77;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.11;MQ0=0;QD=32.32;VQSLOD=8.8035;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,77:77:99:2522,202,0 1 89475135 89475135 C T exonic GBP3 nonsynonymous SNV GBP3:NM_001319180:exon9:c.G1003A:p.V335M,GBP3:NM_001319181:exon9:c.G1324A:p.V442M,GBP3:NM_018284:exon9:c.G1405A:p.V469M,GBP3:NM_001319179:exon10:c.G1168A:p.V390M 0.2 0.044 0.24 0.2 0.32 0.25 0.2641 0.0799 0.2060 0.1892 0.2269 0.3179 0.2881 0.2565 0.24 0.084 0.32 0.22 0.27 rs10493821 COSM3751432 1(haematopoietic_and_lymphoid_tissue);1(pancreas);1(large_intestine);1(biliary_tract) . . . . . . . . . . . 0.267 0.162 T 0.073 0.248 B 0.119 0.310 B 0.787 0.067 N 1 0.090 P 1.22 0.307 L 4.25 0.026 T -1.26 0.318 N 0.069 0.327 -0.918 0.458 T 0.003 0.011 T . . . -0.084 0.086 1.855 0.815 0.133 0.043 0.098 N c -1.165 -1.247 0.011 0.122 0.615 0.372 0 -1.05 0.095 -0.763 0.048 -2.116 0.004 0.000 0.063 0.000 0.016 8.276 0.309 Guanylate-binding protein\x2c C-terminal ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000213516.5|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000137944.12|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Thyroid|Uterus|Vagina|Whole_Blood 0.2678 0.0799 0.2160 0.3659 0.1925 0.2360 0.3211 0.2908 0.2544 0.2254 0.0871 0.2410 0.4007 0.1879 0.2198 0.3041 0.2688 hom 4910.28 178 1 89475135 . C T 4910.28 Mask AC=2;AF=1.00;AN=2;DP=178;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8192;MQ=53.05;MQ0=0;QD=27.59;VQSLOD=3.8730;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,178:178:99:4909,379,0 1 89522646 89522646 G C exonic GBP1 nonsynonymous SNV GBP1:NM_002053:exon7:c.C1046G:p.T349S 0.72 0.8 0.61 0.56 0.77 0.8 0.7451 0.8073 0.5680 0.5705 0.7539 0.7794 0.7456 0.7790 0.79 0.81 0.78 0.62 0.77 rs1048425 COSM1344744 1(haematopoietic_and_lymphoid_tissue);1(pancreas) . . . . . . . . . . . 0.091 0.318 T 0.254 0.295 B 0.438 0.438 B 0.000 0.629 N 1.000 0.189 P 3.165 0.888 M 3.92 0.035 T -3.6 0.693 D 0.054 0.047 -1.185 0.003 T 0.020 0.084 T . . . 1.339 0.225 12.47 0.972 0.324 0.508 0.285 D c -0.131 -0.154 0.756 0.234 0.707 0.730 0 3.89 0.439 2.569 0.454 -0.400 0.062 0.624 0.277 0.507 0.272 12.960 0.577 Guanylate-binding protein\x2c C-terminal ENSG00000213512.1|ENSG00000117226.7|ENSG00000117226.7|ENSG00000117226.7 Adipose_Subcutaneous|Artery_Aorta|Cells_Transformed_fibroblasts|Thyroid 0.7390 0.8089 0.5795 0.7735 0.5793 0.7587 0.7841 0.7426 0.7776 0.7708 0.8019 0.5835 0.7815 0.5800 0.7506 0.7892 0.7541 hom 5354.60 158 1 89522646 . G C 5354.60 Mask AC=2;AF=1.00;AN=2;DP=158;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9810;MQ=58.67;MQ0=0;QD=33.89;VQSLOD=8.9360;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,158:158:99:5354,418,0 1 89847372 89847372 G T exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon5:c.G601T:p.A201S,GBP6:NM_198460:exon7:c.G991T:p.A331S 0.81 0.91 0.84 0.73 0.75 0.78 0.7769 0.8854 0.8667 0.7494 0.8140 0.7390 0.7896 0.7974 0.79 0.88 0.75 0.79 0.7 rs4658359 . . . . . . . . . . . . . 0.087 0.324 T 0.835 0.443 P 0.612 0.493 P 0.288 0.148 N 1 0.090 P 2.525 0.740 M 4.39 0.023 T -2.2 0.495 N 0.049 0.058 -0.897 0.483 T 0.005 0.015 T . . . 1.627 0.257 14.00 0.986 0.433 0.076 0.134 N c -0.373 -0.547 0.561 0.214 0.516 0.203 0 -0.023 0.132 -0.240 0.089 0.729 0.305 0.000 0.063 0.040 0.157 3.352 0.067 Guanylate-binding protein\x2c C-terminal ENSG00000171492.10|ENSG00000197147.8|ENSG00000197147.8 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7791 0.8880 0.8575 0.7478 0.7445 0.8085 0.7378 0.7753 0.7974 0.7972 0.8770 0.8353 0.7417 0.7395 0.8131 0.7531 0.7841 het 1075.62 96 1 89847372 . G T 1075.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.783;DP=96;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6264;MQ=58.79;MQ0=0;MQRankSum=0.898;QD=11.20;ReadPosRankSum=-1.349;VQSLOD=5.8619;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:55,41:96:99:1106,0,1512 1 89847411 89847411 C T exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon5:c.C640T:p.L214F,GBP6:NM_198460:exon7:c.C1030T:p.L344F 0.81 0.91 0.84 0.73 0.75 0.78 0.7771 0.8855 0.8665 0.7501 0.8140 0.7394 0.7896 0.7975 0.79 0.88 0.75 0.71 0.7 rs4658360 COSM4144234 1(thyroid) . . . . . . . . . . . 0.272 0.159 T 0.01 0.144 B 0.025 0.193 B 0.790 0.094 N 1 0.090 P 0.99 0.251 L 4.31 0.024 T -1.36 0.338 N 0.009 0.004 -0.902 0.478 T 0.003 0.008 T . . . -2.187 0.006 0.001 0.426 0.031 0.011 0.040 N c -2.381 -2.494 1.000 0.747 0.549 0.223 0 -9.49 0.005 -2.821 0.008 -2.855 0.002 0.000 0.063 0.278 0.233 20.088 0.978 Guanylate-binding protein\x2c C-terminal ENSG00000171492.10|ENSG00000197147.8|ENSG00000197147.8 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7792 0.8881 0.8575 0.7477 0.7443 0.8086 0.7381 0.7751 0.7975 0.7975 0.8769 0.8361 0.7417 0.7395 0.8139 0.7535 0.7847 het 1407.26 103 1 89847411 . C T 1407.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.592;DP=103;Dels=0.00;FS=3.654;HRun=1;HaplotypeScore=3.5220;MQ=59.19;MQ0=0;MQRankSum=-1.276;QD=13.66;ReadPosRankSum=-0.577;VQSLOD=5.3409;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,52:103:99:1437,0,1448 1 89847444 89847444 A G exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon5:c.A673G:p.M225V,GBP6:NM_198460:exon7:c.A1063G:p.M355V 0.81 0.91 0.84 0.73 0.75 0.78 0.7771 0.8855 0.8665 0.7497 0.8137 0.7394 0.7914 0.7970 0.79 0.88 0.75 0.67 0.71 rs4658146 . . . . . . . . . . . . . 0.952 0.021 T 0.0 0.026 B 0.0 0.013 B 0.390 0.133 N 1 0.090 P -1.73 0.003 N 4.67 0.018 T 1.33 0.009 N 0.003 0.003 -1.015 0.254 T 0.000 0.001 T . . . -2.446 0.004 0.001 0.304 0.017 0.011 0.040 N c -2.256 -2.166 0.957 0.282 0.526 0.212 0 -4.25 0.035 -4.032 0.003 -3.538 0.001 0.000 0.063 0.008 0.104 3.178 0.061 Guanylate-binding protein\x2c C-terminal ENSG00000171492.10|ENSG00000197147.8|ENSG00000197147.8 Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood 0.7792 0.8881 0.8575 0.7478 0.7441 0.8086 0.7383 0.7752 0.7971 0.7974 0.8771 0.8361 0.7417 0.7392 0.8139 0.7533 0.7851 het 1478.86 123 1 89847444 . A G 1478.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.130;DP=123;Dels=0.00;FS=8.952;HRun=0;HaplotypeScore=4.8889;MQ=59.16;MQ0=0;MQRankSum=-0.461;QD=12.02;ReadPosRankSum=1.501;VQSLOD=4.3530;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:64,59:123:99:1509,0,1712 1 89849742 89849742 A T exonic GBP6 nonsynonymous SNV GBP6:NM_001320257:exon8:c.A1169T:p.D390V,GBP6:NM_198460:exon10:c.A1559T:p.D520V 0.86 0.92 0.92 0.73 0.89 0.85 0.8828 0.9083 0.9180 0.7505 0.9090 0.8900 0.9031 0.8706 0.9 0.91 0.89 0.84 0.86 rs959460 . . . . . . . . . . . . . 0.035 0.437 D 0.011 0.147 B 0.063 0.256 B 0.680 0.061 N 1 0.090 P 0.755 0.192 N 0.52 0.553 T -2.92 0.611 D 0.036 0.092 -1.036 0.187 T 0.054 0.227 T . . . 1.518 0.245 13.41 0.960 0.277 0.100 0.154 N c -0.678 -0.660 0.003 0.097 0.549 0.223 0 3.74 0.419 4.031 0.567 0.825 0.337 0.070 0.219 0.014 0.122 7.581 0.270 Guanylate-binding protein\x2c C-terminal ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2|ENSG00000225492.2 Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Nerve_Tibial|Ovary|Thyroid|Uterus 0.8848 0.9093 0.9132 0.9301 0.7450 0.9056 0.8891 0.8976 0.8721 0.8903 0.9029 0.8974 0.9205 0.7420 0.9114 0.8929 0.8929 hom 2669.14 89 1 89849742 . A T 2669.14 Mask AC=2;AF=1.00;AN=2;DP=89;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.37;MQ0=0;QD=29.99;VQSLOD=9.1653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,89:89:99:2702,211,0 1 90049040 90049040 A G exonic LRRC8B synonymous SNV LRRC8B:NM_015350:exon5:c.A831G:p.P277P,LRRC8B:NM_001134476:exon7:c.A831G:p.P277P 0.16 0.034 0.12 0.17 0.21 0.3 0.2344 0.0711 0.1089 0.1986 0.2851 0.2551 0.2511 0.3393 0.2 0.077 0.26 0.15 0.24 rs36084789 COSM3751443 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2313 0.0687 0.1031 0.3142 0.1960 0.2922 0.2491 0.2426 0.3355 0.1999 0.0681 0.1205 0.3212 0.2058 0.3022 0.2489 0.2790 hom 4704.61 159 1 90049040 . A G 4704.61 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.6653;MQ=59.57;MQ0=0;QD=29.59;VQSLOD=7.8977;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:4704,391,0 1 90178743 90178743 A G exonic LRRC8C nonsynonymous SNV LRRC8C:NM_032270:exon3:c.A614G:p.D205G 0.99 0.95 0.99 1. 1. 1. 0.9952 0.9487 0.9971 1 1 0.9999 0.9978 0.9999 0.98 0.95 1. 0.99 1. rs474536 . . . . . . . . . . . . . 0.536 0.069 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1.000 0.186 P -1.245 0.008 N 1.88 0.239 T 0.18 0.050 N 0.058 0.298 -0.990 0.326 T 0.007 0.025 T . . . 1.673 0.262 14.26 0.899 0.187 0.294 0.236 N c -0.613 -0.299 0.998 0.360 0.722 0.854 0 4.84 0.620 3.339 0.516 0.138 0.222 1.000 0.715 0.999 0.750 14.015 0.639 LRRC8\x2c pannexin-like TM region . . 0.9962 0.9474 0.9969 1 1 1 0.9999 0.9976 0.9999 0.9871 0.9545 0.9988 1 1 1 0.9999 0.9990 hom 2915.54 92 1 90178743 . A G 2915.54 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.42;MQ0=0;QD=31.69;VQSLOD=8.8220;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2949,226,0 1 90486412 90486412 T G exonic ZNF326 synonymous SNV ZNF326:NM_181781:exon8:c.T618G:p.V206V,ZNF326:NM_001320185:exon10:c.T969G:p.V323V,ZNF326:NM_182976:exon10:c.T1236G:p.V412V 0.69 0.66 0.72 0.89 0.57 0.63 0.6211 0.6512 0.7656 0.9027 0.6178 0.5614 0.6278 0.5954 0.59 0.66 0.56 0.64 0.59 rs2816881 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6290 0.6565 0.7563 0.5745 0.9007 0.6132 0.5628 0.6183 0.5947 0.6197 0.6596 0.7326 0.6060 0.8847 0.6218 0.5611 0.6232 hom 2835.85 85 1 90486412 . T G 2835.85 Mask AC=2;AF=1.00;AN=2;DP=85;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=58.41;MQ0=0;QD=33.36;VQSLOD=9.6530;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,85:85:99:2869,226,0 1 91404256 91404256 C A exonic ZNF644 nonsynonymous SNV ZNF644:NM_201269:exon3:c.G2655T:p.E885D 0.01 0.0008 0.017 . 0.033 0.0051 0.0222 0.0061 0.0058 0 0.0463 0.0327 0.0221 0.0033 0.023 0.0077 0.031 0.011 . rs41286761 . . . . . . . . . . . . . 0.121 0.277 T 0.0 0.026 B 0.001 0.040 B 0.000 0.523 N 0.878 0.810 D 0.625 0.159 N 6.29 0.006 T -0.41 0.140 N 0.049 0.030 -0.885 0.494 T 0.001 0.002 T . . . 1.137 0.203 11.41 0.959 0.274 0.335 0.246 N c -0.779 -0.666 0.330 0.195 0.732 0.924 0 0.468 0.159 -0.539 0.062 0.115 0.208 0.585 0.274 1.000 0.888 1.121 0.016 . . . 0.0223 0.0048 0.0068 0.0179 0 0.0490 0.0334 0.0191 0.0031 0.0237 0.0055 0.0144 0.0166 0 0.0464 0.0322 0.0234 het 792.89 66 1 91404256 . C A 792.89 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.842;DP=66;Dels=0.00;FS=0.954;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;MQRankSum=0.712;QD=12.01;ReadPosRankSum=0.853;VQSLOD=6.2202;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:34,32:66:99:823,0,839 1 91728053 91728053 G A exonic HFM1 synonymous SNV HFM1:NM_001017975:exon37:c.C4071T:p.A1357A 1. 1. 1. 1. 1. 1. 0.9997 0.9968 0.9998 1 1 1.0000 1 1 1. 1. 1. 1. 0.98 rs585898 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9966 0.9998 1 1 1 1.0000 1 1 0.9987 0.9954 1 1 1 1 1 1 hom 3880.83 127 1 91728053 . G A 3880.83 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9867;MQ=58.07;MQ0=0;QD=30.56;VQSLOD=8.0246;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:3881,295,0 1 91781413 91781413 T G exonic HFM1 synonymous SNV HFM1:NM_001017975:exon28:c.A3099C:p.I1033I 0.76 0.75 0.72 0.82 0.69 0.82 0.7059 0.7463 0.6921 0.8425 0.6978 0.6616 0.7251 0.7990 0.69 0.73 0.67 0.73 0.53 rs281992 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7060 0.7447 0.6931 0.7816 0.8357 0.6934 0.6542 0.7141 0.7984 0.6920 0.7378 0.7105 0.8212 0.8246 0.6821 0.6500 0.6875 het 1395.94 99 1 91781413 . T G 1395.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.823;DP=99;Dels=0.00;FS=1.684;HRun=0;HaplotypeScore=0.0000;MQ=57.53;MQ0=1;MQRankSum=0.511;QD=14.10;ReadPosRankSum=-0.563;VQSLOD=4.8202;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,59:99:99:1426,0,1046 1 91782031 91782031 T C exonic HFM1 nonsynonymous SNV HFM1:NM_001017975:exon26:c.A2815G:p.I939V 0.12 0.12 0.16 0.005 0.23 0.12 0.1998 0.1340 0.1433 0.0017 0.2041 0.2624 0.1887 0.1297 0.22 0.14 0.26 0.14 0.18 rs11584478 COSM3747106 1(liver) . . . . . . . . . . . 0.812 0.030 T 0.001 0.139 B 0.007 0.154 B 0.004 0.347 N 0.933 0.270 P -0.845 0.015 N 0.22 0.599 T 0.27 0.043 N 0.01 0.021 -1.046 0.155 T 0.029 0.122 T . . . 0.386 0.131 6.488 0.692 0.086 0.683 0.335 D c -0.571 -0.385 0.000 0.012 0.554 0.246 0 1.31 0.207 2.628 0.459 0.964 0.580 1.000 0.715 1.000 0.888 6.864 0.231 Sec63 domain . . 0.2133 0.1422 0.1750 0.1755 0.0019 0.2123 0.2777 0.2315 0.1405 0.2027 0.1345 0.1638 0.1258 0.0031 0.2173 0.2633 0.2174 het 1515.68 117 1 91782031 . T C 1515.68 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.966;DP=117;Dels=0.00;FS=1.662;HRun=0;HaplotypeScore=3.3691;MQ=58.38;MQ0=0;MQRankSum=-0.358;QD=12.95;ReadPosRankSum=0.713;VQSLOD=5.6770;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,62:117:99:1546,0,1302 1 91784887 91784887 G A exonic HFM1 synonymous SNV HFM1:NM_001017975:exon24:c.C2643T:p.T881T 0.24 0.25 0.28 0.18 0.31 0.18 0.2951 0.2521 0.3082 0.1577 0.3019 0.3402 0.2759 0.2006 0.31 0.27 0.33 0.27 0.39 rs10493845 COSM146559 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2948 0.2519 0.3075 0.2393 0.1637 0.3063 0.3459 0.2878 0.2017 0.3070 0.2576 0.2895 0.1921 0.1743 0.3188 0.3504 0.3108 het 930.92 94 1 91784887 . G A 930.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.867;DP=94;Dels=0.00;FS=1.740;HRun=0;HaplotypeScore=3.7437;MQ=58.30;MQ0=0;MQRankSum=1.092;QD=9.90;ReadPosRankSum=-0.351;VQSLOD=5.6041;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,42:94:99:961,0,1208 1 91851253 91851253 T C exonic HFM1 synonymous SNV HFM1:NM_001017975:exon5:c.A633G:p.Q211Q 1. 1. 1. 1. 1. 1. 0.9997 0.9968 0.9998 1 1 1 1 1 1. 1. 1. 1. 0.9 rs282026 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9965 0.9998 1 1 1 1 1 1.0000 0.9987 0.9955 1 1 1 1 1 1 hom 2250.44 74 1 91851253 . T C 2250.44 Mask AC=2;AF=1.00;AN=2;DP=74;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7219;MQ=58.35;MQ0=0;QD=30.41;VQSLOD=7.7921;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,74:74:99:2283,175,0 1 91859795 91859795 T C exonic HFM1 nonsynonymous SNV HFM1:NM_001017975:exon4:c.A349G:p.I117V 1. 1. 1. 1. 1. 1. 0.9997 0.9969 0.9998 1 1 1 1 1 1. 1. 1. 1. 0.97 rs282009 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -2.24 0.001 N 0.49 0.558 T 0.16 0.052 N 0.05 0.031 -0.972 0.367 T 0.015 0.058 T . . . -2.189 0.006 0.001 0.170 0.005 0.001 0.007 N c -1.539 -1.441 0.000 0.012 0.554 0.283 0 1.52 0.221 -0.084 0.111 0.039 0.154 0.000 0.063 0.304 0.238 6.966 0.236 . . . 0.9998 0.9967 0.9998 1 1 1 1 1 1 0.9987 0.9954 1 1 1 1 1 1 hom 2702.83 83 1 91859795 . T C 2702.83 Mask AC=2;AF=1.00;AN=2;DP=83;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.27;MQ0=0;QD=32.56;VQSLOD=9.9187;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,83:83:99:2736,208,0 1 91859801 91859801 A G exonic HFM1 nonsynonymous SNV HFM1:NM_001017975:exon4:c.T343C:p.S115P 0.14 0.16 0.16 0.005 0.24 0.12 0.2034 0.1703 0.1452 0.0017 0.2047 0.2632 0.1905 0.1288 0.23 0.18 0.26 0.15 0.23 rs11165778 COSM3747107 1(pancreas);1(liver) . . . . . . . . . . . 0.29 0.150 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.04 0.263 L 0.26 0.593 T -0.2 0.309 N 0.346 0.407 -1.053 0.137 T 0.038 0.162 T . . . -0.473 0.057 0.256 0.663 0.078 0.007 0.029 N c -1.347 -1.382 0.000 0.012 0.554 0.283 0 -2.82 0.054 -0.436 0.069 -0.185 0.104 0.000 0.063 0.237 0.225 9.867 0.401 . . . 0.1986 0.1737 0.1467 0.1593 0.0016 0.2103 0.2685 0.2103 0.1268 0.2155 0.1737 0.1663 0.1258 0.0031 0.2203 0.2659 0.2223 het 708.36 83 1 91859801 . A G 708.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.415;DP=83;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.99;MQ0=0;MQRankSum=-1.050;QD=8.53;ReadPosRankSum=-0.240;VQSLOD=5.6894;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:52,31:83:99:738,0,1413 1 91980447 91980447 A G exonic CDC7 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 0.77 0.78 0.78 0.76 0.79 0.72 0.7773 0.7855 0.8280 0.7572 0.7461 0.7779 0.7621 0.7584 0.78 0.77 0.78 0.85 0.8 rs483532 COSM3747108 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7796 0.7868 0.8214 0.8444 0.7569 0.7488 0.7760 0.7813 0.7574 0.7786 0.7848 0.8043 0.8676 0.7763 0.7466 0.7808 0.7577 hom 1985.41 72 1 91980447 . A G 1985.41 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=27.58;VQSLOD=8.3316;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2018,165,0 1 92174260 92174260 A G exonic TGFBR3 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 0.91 0.94 0.97 0.74 0.94 0.95 0.9337 0.9379 0.9710 0.7731 0.9716 0.9395 0.9361 0.9504 0.94 0.94 0.94 0.95 0.86 rs284878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9338 0.9380 0.9661 0.9040 0.7653 0.9708 0.9406 0.9433 0.9474 0.9356 0.9334 0.9582 0.9007 0.7531 0.9699 0.9472 0.9491 hom 4545.67 140 1 92174260 . A G 4545.67 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8857;MQ=59.67;MQ0=0;QD=32.47;VQSLOD=9.5462;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4545,352,0 1 92177938 92177938 A G exonic TGFBR3 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 0.28 0.31 0.29 0.086 0.43 0.28 0.3660 0.3400 0.2796 0.1070 0.3618 0.4402 0.3234 0.2829 0.4 0.34 0.44 0.35 0.39 rs1805113 COSM3747109 1(breast);3(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3604 0.3356 0.2868 0.3410 0.1045 0.3587 0.4463 0.3876 0.2880 0.3765 0.3425 0.2876 0.4040 0.0912 0.3693 0.4324 0.3910 het 2291.80 160 1 92177938 . A G 2291.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.355;DP=160;Dels=0.00;FS=11.356;HRun=2;HaplotypeScore=5.1173;MQ=59.62;MQ0=0;MQRankSum=-1.257;QD=14.32;ReadPosRankSum=0.718;VQSLOD=3.8540;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:71,89:160:99:2322,0,1863 1 92185657 92185657 C T exonic TGFBR3 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 0.41 0.28 0.28 0.53 0.46 0.48 0.4177 0.3071 0.2673 0.5325 0.4836 0.4373 0.4207 0.4268 0.38 0.32 0.41 0.41 0.39 rs1805112 COSM3997703 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4139 0.3041 0.2682 0.4309 0.5458 0.4842 0.4308 0.4274 0.4339 0.4029 0.3062 0.3062 0.4272 0.5458 0.4860 0.4281 0.4192 hom 2723 81 1 92185657 . C T 2723 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2741;MQ=59.69;MQ0=0;QD=33.62;VQSLOD=7.7241;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,80:81:99:2756,223,0 1 92262874 92262874 T C exonic TGFBR3 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 0.72 0.78 0.72 0.77 0.63 0.66 0.6631 0.7551 0.6346 0.7921 0.6061 0.6386 0.6817 0.6782 0.68 0.75 0.64 0.67 0.63 rs2810904 COSM3751453 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6593 0.7556 0.6440 0.6309 0.7837 0.6039 0.6396 0.6473 0.6817 0.6616 0.7388 0.6730 0.5867 0.7667 0.5975 0.6226 0.6375 het 2541.92 208 1 92262874 . T C 2541.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.393;DP=208;DS;Dels=0.00;FS=1.100;HRun=2;HaplotypeScore=8.3955;MQ=59.31;MQ0=0;MQRankSum=0.204;QD=12.22;ReadPosRankSum=-0.585;VQSLOD=4.3846;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,101:208:99:2572,0,3071 1 92327045 92327045 G A exonic TGFBR3 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 0.19 0.18 0.14 0.37 0.085 0.15 0.1308 0.1865 0.1201 0.4008 0.1152 0.0898 0.1322 0.1335 0.12 0.17 0.085 0.26 0.12 rs1805110 COSM146560 2(haematopoietic_and_lymphoid_tissue);1(stomach);1(soft_tissue);1(large_intestine) . . . . . . . . . . . 0.166 0.231 T 0.4 0.330 B 0.181 0.342 B 0.368 0.136 N 0.575 0.311 P 1.24 0.311 L 1.47 0.481 T -0.25 0.839 N 0.199 0.496 -1.065 0.105 T 0.027 0.116 T . . . 0.927 0.182 10.24 0.933 0.224 0.642 0.321 D c -0.354 -0.206 1.000 0.462 0.638 0.428 0 3.18 0.355 1.652 0.367 1.027 0.646 1.000 0.715 0.841 0.351 6.015 0.187 . . . 0.1307 0.1868 0.1257 0.1306 0.3976 0.1132 0.0862 0.1089 0.1363 0.1310 0.1777 0.1337 0.1258 0.3813 0.1105 0.0827 0.1130 het 1242.28 105 1 92327045 . G A 1242.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.334;DP=105;Dels=0.00;FS=0.775;HRun=1;HaplotypeScore=1.7883;MQ=59.60;MQ0=0;MQRankSum=0.978;QD=11.83;ReadPosRankSum=1.062;VQSLOD=6.5996;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:55,50:105:99:1272,0,1505 1 92428495 92428495 C A exonic BRDT 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 0.76 0.66 0.84 0.61 0.92 0.81 0.8763 0.6939 0.8910 0.6033 0.9524 0.9374 0.8906 0.8452 0.86 0.7 0.94 0.79 0.88 rs10783071 COSM4417547 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.582 0.170 T 0.0 0.026 B 0.0 0.013 B 0.015 0.284 N 1 0.090 P 0.52 0.136 N 1.58 0.291 T 0.72 0.026 N 0.029 0.157 -0.952 0.407 T 0.013 0.050 T . . . 0.761 0.167 9.222 0.831 0.141 0.011 0.039 N c -1.025 -0.930 0.030 0.139 0.487 0.133 0 2.25 0.272 1.215 0.318 0.234 0.260 0.070 0.219 0.998 0.697 6.707 0.223 Bromodomain;Bromodomain|Bromodomain\x2c conserved site . . 0.8801 0.6912 0.8838 0.9320 0.5983 0.9542 0.9368 0.9047 0.8400 0.8523 0.6908 0.8687 0.9404 0.6009 0.9579 0.9425 0.9031 hom 3703.66 125 1 92428495 . C A 3703.66 Mask AC=2;AF=1.00;AN=2;DP=125;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9117;MQ=58.91;MQ0=0;QD=29.63;VQSLOD=8.6791;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,125:125:99:3703,280,0 1 92445257 92445257 C G exonic BRDT 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 0.13 0.024 0.24 0.028 0.22 0.21 0.2111 0.0512 0.2354 0.0220 0.2504 0.2511 0.2346 0.2154 0.18 0.059 0.25 0.11 0.33 rs3088232 COSM3751454 1(large_intestine) . . . . . . . . . . . 0.276 0.252 T 0.003 0.154 B 0.002 0.121 B 0.891 0.087 N 0.924 0.280 P 1.05 0.269 L 3.31 0.092 T -1.45 0.356 N 0.028 0.104 -0.935 0.434 T 0.007 0.024 T . . . 1.442 0.236 13.01 0.979 0.359 0.265 0.228 N c -0.604 -0.526 0.017 0.129 0.487 0.133 0 3.76 0.422 0.219 0.173 0.935 0.490 0.066 0.217 0.769 0.327 2.525 0.044 Bromodomain;Bromodomain|Bromodomain\x2c conserved site . . 0.2130 0.0463 0.2239 0.2526 0.0225 0.2539 0.2501 0.2199 0.2128 0.1823 0.0545 0.2339 0.2450 0.0228 0.2490 0.2512 0.2290 het 1384.66 118 1 92445257 . C G 1384.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.175;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.5256;MQ=58.89;MQ0=0;MQRankSum=2.556;QD=11.73;ReadPosRankSum=-0.347;VQSLOD=3.5387;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:64,53:118:99:1415,0,1591 1 92457843 92457843 C T exonic BRDT 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 0.71 0.59 0.77 0.61 0.84 0.79 0.8166 0.6356 0.8512 0.6111 0.9006 0.8549 0.8300 0.8223 0.78 0.63 0.86 0.75 0.62 rs10747493 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.442 0.048 N 1 0.090 P -0.805 0.016 N 3.33 0.062 T -0.34 0.127 N 0.041 0.092 -0.913 0.465 T 0.003 0.008 T . . . -0.359 0.064 0.485 0.150 0.004 0.001 0.006 N c -1.444 -1.470 0.000 0.012 0.487 0.133 0 0.031 0.134 -0.926 0.041 -0.134 0.110 0.000 0.063 0.001 0.043 2.431 0.042 . ENSG00000154511.7|ENSG00000154511.7|ENSG00000067208.10|ENSG00000137948.14 Artery_Tibial|Cells_Transformed_fibroblasts|Nerve_Tibial|Testis 0.8160 0.6087 0.8258 0.8812 0.5809 0.9027 0.8472 0.8258 0.8104 0.7847 0.6200 0.8130 0.9033 0.6055 0.9092 0.8644 0.8461 hom 1260.03 45 1 92457843 . C T 1260.03 Mask AC=2;AF=1.00;AN=2;DP=45;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.18;MQ0=0;QD=28.00;VQSLOD=7.8211;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,45:45:96.30:1293,96,0 1 92979354 92979354 A G exonic EVI5 synonymous SNV EVI5:NM_005665:exon18:c.T2292C:p.G764G,EVI5:NM_001308248:exon19:c.T2325C:p.G775G,EVI5:NM_001350197:exon20:c.T2340C:p.G780G 0.92 0.95 0.89 0.98 0.81 0.96 0.8520 0.9295 0.9175 0.9633 0.7755 0.7973 0.8590 0.9501 0.84 0.92 0.79 0.88 0.79 rs6603979 COSM4144254;COSM4144255 1(thyroid) Benign not_specified RCV000454845.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8537 0.9283 0.9124 0.8817 0.9645 0.7773 0.7955 0.8398 0.9503 0.8528 0.9275 0.9067 0.9139 0.9654 0.7821 0.8104 0.8351 hom 4659.92 142 1 92979354 . A G 4659.92 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.4972;MQ=59.15;MQ0=0;QD=32.82;VQSLOD=9.9159;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4660,361,0 1 93089823 93089823 T C exonic EVI5 synonymous SNV EVI5:NM_005665:exon14:c.A1689G:p.Q563Q,EVI5:NM_001308248:exon15:c.A1722G:p.Q574Q,EVI5:NM_001350197:exon16:c.A1737G:p.Q579Q,EVI5:NM_001350198:exon16:c.A1737G:p.Q579Q 0.95 0.96 0.94 0.98 0.9 0.97 0.9216 0.9452 0.9564 0.9635 0.8810 0.8988 0.9349 0.9679 0.91 0.94 0.9 0.95 0.91 rs7514716 . . Benign not_specified RCV000454596.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9236 0.9431 0.9550 0.9526 0.9647 0.8854 0.8982 0.9186 0.9681 0.9170 0.9435 0.9604 0.9702 0.9661 0.8840 0.9008 0.9122 hom 5389.96 159 1 93089823 . T C 5389.96 Mask AC=2;AF=1.00;AN=2;DP=159;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.15;MQ0=0;QD=33.90;VQSLOD=9.8432;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,159:159:99:5390,412,0 1 93160902 93160902 T C exonic EVI5 nonsynonymous SNV EVI5:NM_001308248:exon7:c.A1006G:p.I336V,EVI5:NM_001350197:exon7:c.A874G:p.I292V,EVI5:NM_001350198:exon7:c.A874G:p.I292V,EVI5:NM_005665:exon7:c.A1006G:p.I336V 0.95 0.95 0.95 0.98 0.91 0.97 0.9216 0.9438 0.9566 0.9634 0.8809 0.8991 0.9328 0.9676 0.91 0.94 0.9 0.95 0.91 rs2391199 . . Benign not_specified RCV000454998.1 MedGen CN169374 . . . . . . 0.606 0.055 T 0.0 0.026 B 0.003 0.112 B 0.023 0.265 N 0.012 0.407 P -0.115 0.046 N 2.01 0.213 T -0.09 0.084 N 0.039 0.061 -0.935 0.434 T 0.008 0.028 T . . . -0.025 0.091 2.353 0.796 0.124 0.211 0.211 N c -0.803 -0.645 0.001 0.084 0.707 0.730 0 2.3 0.276 -0.141 0.102 0.993 0.603 0.024 0.198 1.000 0.888 7.969 0.291 Rab-GTPase-TBC domain ENSG00000067208.10|ENSG00000067208.10|ENSG00000067208.10|ENSG00000067208.10 Artery_Tibial|Brain_Caudate_basal_ganglia|Esophagus_Mucosa|Whole_Blood 0.9237 0.9418 0.9550 0.9539 0.9648 0.8856 0.8985 0.9189 0.9680 0.9169 0.9421 0.9606 0.9735 0.9666 0.8838 0.9012 0.9143 hom 4414.82 144 1 93160902 . T C 4414.82 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7281;MQ=58.76;MQ0=0;QD=30.66;VQSLOD=8.7780;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,144:144:99:4414,334,0 1 93580581 93580581 G C exonic MTF2 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 1. 1. 1. 1. 1. 1. 0.9996 0.9957 0.9998 1 1 1 1 1 1. 1. 1. 1. 0.98 rs2815427 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9997 0.9958 0.9998 1 1 1 1.0000 1 1 0.9989 0.9962 0.9988 1 1 1 1 1 hom 2162.26 72 1 93580581 . G C 2162.26 Mask AC=2;AF=1.00;AN=2;DP=72;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.04;MQ0=0;QD=30.03;VQSLOD=7.5584;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,72:72:99:2195,166,0 1 93620393 93620393 G A exonic TMED5 nonsynonymous SNV TMED5:NM_016040:exon4:c.C524T:p.T175I 0.49 0.07 0.58 0.64 0.63 0.69 0.5864 0.1440 0.5008 0.6418 0.6370 0.6365 0.6035 0.6723 0.47 0.17 0.63 0.27 0.62 rs1060622 . . . . . . . . . . . . . 0.038 0.427 D 0.945 0.513 P 0.71 0.527 P 0.000 0.843 D 0.000 0.810 P . . . 2.36 0.161 T -3.11 0.636 D 0.156 0.186 -1.034 0.191 T 0.059 0.247 T . . . 4.001 0.538 23.6 0.999 0.945 0.988 0.875 D c 0.707 0.673 1.000 0.401 0.707 0.730 0 3.94 0.446 7.970 0.875 1.048 0.713 1.000 0.715 0.999 0.750 10.854 0.458 GOLD domain ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000122483.13|ENSG00000154511.7|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000122483.13|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117500.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood 0.5926 0.1356 0.5180 0.6586 0.6505 0.6425 0.6323 0.6058 0.6655 0.4854 0.1533 0.5310 0.6589 0.6458 0.6312 0.6145 0.5927 het 2034.41 204 1 93620393 . G A 2034.41 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.206;DP=204;Dels=0.00;FS=0.529;HRun=1;HaplotypeScore=0.7887;MQ=58.45;MQ0=0;MQRankSum=-0.698;QD=9.97;ReadPosRankSum=0.942;VQSLOD=5.5366;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,89:204:99:2064,0,2714 1 93672723 93672723 A C exonic CCDC18 nonsynonymous SNV CCDC18:NM_001306076:exon9:c.A977C:p.N326T,CCDC18:NM_206886:exon9:c.A977C:p.N326T 0.75 0.33 0.84 0.96 0.81 0.97 0.8245 0.3934 0.9028 0.9593 0.8515 0.8204 0.8374 0.9561 0.7 0.42 0.82 0.61 0.73 rs2815413 . . . . . . . . . . . . . 0.584 0.245 T 0.421 0.387 B 0.169 0.413 B 0.000 0.559 D 0.079 0.588 P 1.995 0.543 M 2.31 0.168 T -2.15 0.486 N 0.108 0.157 -1.032 0.197 T 0.021 0.089 T . . . 3.050 0.427 22.4 0.986 0.433 0.879 0.473 D c 0.002 0.086 0.637 0.220 0.707 0.730 0 4.58 0.559 1.766 0.379 1.199 0.960 1.000 0.715 1.000 0.888 8.460 0.319 . ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000229635.1|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000229635.1|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000122483.13|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117505.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000117500.8|ENSG00000117505.8|ENSG00000223745.3|ENSG00000117500.8|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3|ENSG00000223745.3 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Uterus|Vagina|Whole_Blood 0.8333 0.3833 0.9020 0.8023 0.9623 0.8476 0.8214 0.8249 0.9543 0.7055 0.3887 0.8861 0.8046 0.9506 0.8432 0.8123 0.8128 het 496.35 42 1 93672723 . A C 496.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.834;DP=42;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9992;MQ=60.00;MQ0=0;MQRankSum=-0.480;QD=11.82;ReadPosRankSum=1.314;VQSLOD=5.6902;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:19,23:42:99:526,0,477 1 94341267 94341267 A G exonic DNTTIP2 synonymous SNV DNTTIP2:NM_014597:exon3:c.T1740C:p.F580F 0.53 0.54 0.43 0.62 0.42 0.62 0.4754 0.5286 0.4806 0.6274 0.4044 0.4266 0.4676 0.5859 0.46 0.51 0.43 0.52 . rs2273165 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4696 0.5300 0.4763 0.4260 0.6209 0.3930 0.4257 0.4510 0.5793 0.4556 0.5313 0.4880 0.38 0.5932 0.3718 0.4155 0.4613 het 773.42 53 1 94341267 . A G 773.42 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.321;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.13;MQ0=0;MQRankSum=-1.624;QD=14.59;ReadPosRankSum=-2.102;VQSLOD=5.0974;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:24,28:53:99:803,0,639 1 94342564 94342564 C A exonic DNTTIP2 nonsynonymous SNV DNTTIP2:NM_014597:exon2:c.G927T:p.E309D 0.34 0.082 0.33 0.56 0.33 0.51 0.3538 0.1287 0.3852 0.5633 0.2898 0.3329 0.3492 0.4668 0.27 0.14 0.34 0.28 . rs3747965 COSM3997708 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.156 0.241 T 0.006 0.126 B 0.005 0.104 B 0.813 0.068 N 1 0.090 P 1.735 0.450 L 1.97 0.221 T -0.95 0.253 N 0.021 0.005 -0.977 0.357 T 0.018 0.077 T . . . 0.363 0.129 6.287 0.985 0.421 0.119 0.167 N c -1.071 -1.121 1.000 0.414 0.722 0.854 0 0.373 0.153 -1.697 0.020 0.022 0.145 0.000 0.063 0.795 0.335 4.542 0.114 . ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000260464.1|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2|ENSG00000230439.2 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Uterus|Vagina 0.3584 0.1232 0.3896 0.3453 0.5645 0.2868 0.3357 0.3461 0.4657 0.2789 0.1278 0.3882 0.3046 0.5360 0.2679 0.3309 0.3452 het 280.87 37 1 94342564 . C A 280.87 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.572;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9861;MQ=59.38;MQ0=0;MQRankSum=-1.047;QD=7.59;ReadPosRankSum=-1.180;VQSLOD=5.3210;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:26,11:37:99:311,0,685 1 94343023 94343023 A G exonic DNTTIP2 synonymous SNV DNTTIP2:NM_014597:exon2:c.T468C:p.P156P 0.44 0.38 0.37 0.56 0.35 0.53 0.3931 0.3861 0.4187 0.5730 0.3083 0.3532 0.375 0.4819 0.36 0.38 0.36 0.4 . rs2391322 COSM3997710 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3932 0.3915 0.4201 0.3525 0.5692 0.3042 0.356 0.3760 0.4811 0.3668 0.3947 0.4200 0.3079 0.5396 0.2880 0.3476 0.3814 het 1676.19 127 1 94343023 . A G 1676.19 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.972;DP=127;Dels=0.00;FS=0.817;HRun=2;HaplotypeScore=3.5403;MQ=59.23;MQ0=0;MQRankSum=0.109;QD=13.20;ReadPosRankSum=-0.581;VQSLOD=6.4330;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:66,61:127:99:1706,0,2045 1 94343233 94343233 T C exonic DNTTIP2 synonymous SNV DNTTIP2:NM_014597:exon2:c.A258G:p.E86E 0.76 0.81 0.81 0.79 0.66 0.73 0.7170 0.7926 0.8771 0.7785 0.6461 0.6823 0.7016 0.6970 0.73 0.79 0.7 0.76 . rs3789457 COSM3747119 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7212 0.7925 0.8726 0.6613 0.7754 0.6362 0.6873 0.7089 0.6962 0.7186 0.7935 0.8429 0.6126 0.7735 0.6231 0.6878 0.7004 het 1016.43 93 1 94343233 . T C 1016.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.090;DP=93;Dels=0.00;FS=8.693;HRun=0;HaplotypeScore=1.8675;MQ=59.35;MQ0=0;MQRankSum=-2.042;QD=10.93;ReadPosRankSum=-0.098;VQSLOD=3.7418;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:50,43:93:99:1046,0,1420 1 94471075 94471075 A G exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon44:c.T6069C:p.I2023I 0.77 0.37 0.9 0.9 0.94 0.91 0.8894 0.4474 0.9413 0.8885 0.9568 0.9363 0.9075 0.9142 0.78 0.47 0.93 0.72 0.9 rs1762114 COSM3997712 1(haematopoietic_and_lymphoid_tissue) Benign|Benign|Benign|Benign|Benign not_specified|Cone-Rod_Dystrophy\x2c_Recessive|Stargardt_Disease\x2c_Recessive|Macular_degeneration|Retinitis_Pigmentosa\x2c_Recessive RCV000178546.3|RCV000296912.1|RCV000300456.1|RCV000355311.1|RCV000404512.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen CN169374|CN239309|CN239312|HP:0000608:C0024437|CN239466 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8995 0.4390 0.9373 0.8898 0.8855 0.9593 0.9379 0.9088 0.9143 0.8011 0.4595 0.9320 0.8907 0.8710 0.9674 0.9372 0.9061 hom 3816.09 124 1 94471075 . A G 3816.09 Mask AC=2;AF=1.00;AN=2;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8321;MQ=59.81;MQ0=0;QD=30.77;VQSLOD=8.3731;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,124:124:99:3815,301,0 1 94473845 94473845 T C exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon42:c.A5844G:p.P1948P 0.17 0.26 0.16 0.12 0.14 0.11 0.1748 0.2397 0.1514 0.1311 0.1712 0.1854 0.1656 0.1327 0.2 0.23 0.18 0.15 0.2 rs2275029 COSM146561 1(stomach);1(liver) Benign|Likely benign|Likely benign|Likely benign|Likely benign not_specified|Retinitis_Pigmentosa\x2c_Recessive|Cone-Rod_Dystrophy\x2c_Recessive|Stargardt_Disease\x2c_Recessive|Macular_degeneration RCV000152704.5|RCV000269749.1|RCV000324408.1|RCV000328383.1|RCV000382920.1 MedGen|MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN169374|CN239466|CN239309|CN239312|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1725 0.2393 0.1550 0.2034 0.1255 0.1729 0.1832 0.1848 0.1335 0.1974 0.2305 0.1538 0.2086 0.1292 0.1856 0.1914 0.1840 het 736.58 80 1 94473845 . T C 736.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.518;DP=80;Dels=0.00;FS=3.094;HRun=2;HaplotypeScore=3.3963;MQ=59.71;MQ0=0;MQRankSum=-1.427;QD=9.21;ReadPosRankSum=0.723;VQSLOD=5.0363;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,33:80:99:767,0,1231 1 94474328 94474328 T C exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon41:c.A5814G:p.L1938L 0.19 0.27 0.23 0.12 0.19 0.12 0.1886 0.2425 0.2430 0.1311 0.1739 0.1930 0.1762 0.1354 0.21 0.24 0.19 0.18 0.21 rs4147857 COSM146562 1(stomach) not provided|Benign|Likely benign|Likely benign|Likely benign|Likely benign not_provided|not_specified|Retinitis_Pigmentosa\x2c_Recessive|Macular_degeneration|Cone-Rod_Dystrophy\x2c_Recessive|Stargardt_Disease\x2c_Recessive RCV000085761.3|RCV000211879.2|RCV000309928.1|RCV000349633.1|RCV000364498.1|RCV000402778.1 MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen|MedGen|MedGen CN221809|CN169374|CN239466|HP:0000608:C0024437|CN239309|CN239312 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1894 0.2408 0.2433 0.2060 0.1259 0.1758 0.1914 0.1994 0.1361 0.2040 0.2342 0.2225 0.2086 0.1270 0.1890 0.1979 0.1939 het 3224.03 231 1 94474328 . T C 3224.03 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.494;DP=231;DS;Dels=0.00;FS=1.600;HRun=0;HaplotypeScore=6.2730;MQ=58.81;MQ0=0;MQRankSum=2.104;QD=13.96;ReadPosRankSum=-1.488;VQSLOD=4.2421;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:114,117:231:99:3254,0,3076 1 94476388 94476388 C G exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon40:c.G5682C:p.L1894L 0.2 0.27 0.21 0.12 0.25 0.13 0.2197 0.2500 0.1758 0.1309 0.2147 0.2515 0.2078 0.1517 0.25 0.24 0.25 0.17 0.25 rs1801574 COSM146563 1(stomach);1(liver) not provided|Benign|Likely benign|Likely benign|Likely benign|Likely benign not_provided|not_specified|Stargardt_Disease\x2c_Recessive|Cone-Rod_Dystrophy\x2c_Recessive|Retinitis_Pigmentosa\x2c_Recessive|Macular_degeneration RCV000085750.3|RCV000178425.2|RCV000263057.1|RCV000318478.1|RCV000321911.1|RCV000376557.1 MedGen|MedGen|MedGen|MedGen|MedGen|Human_Phenotype_Ontology:MedGen CN221809|CN169374|CN239312|CN239309|CN239466|HP:0000608:C0024437 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2154 0.2485 0.1782 0.2397 0.1257 0.2129 0.2509 0.2327 0.1520 0.2367 0.2425 0.1806 0.2318 0.1279 0.2265 0.2516 0.2224 het 1148.24 75 1 94476388 . C G 1148.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.684;DP=75;Dels=0.00;FS=1.949;HRun=1;HaplotypeScore=4.9717;MQ=58.94;MQ0=0;MQRankSum=-0.806;QD=15.31;ReadPosRankSum=-0.699;VQSLOD=4.2987;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:33,42:75:99:1178,0,885 1 94517254 94517254 C G exonic ABCA4 nonsynonymous SNV ABCA4:NM_000350:exon17:c.G2588C:p.G863A 0.0012 0.0008 . . 0.003 0.002 0.0051 0.0016 0.0010 0 0.0014 0.0081 0.0023 0.0022 0.0052 0.0023 0.0067 . 0.016 rs76157638 COSM328066 1(pancreas) Pathogenic|other|Pathogenic|Pathogenic|Pathogenic|Pathogenic|Uncertain significance|Uncertain significance Stargardt_disease_1|Cone-rod_dystrophy_3|not_provided|Stargardt_disease_1|Stargardt_disease_1|Stargardt_disease_1|Abnormality_of_the_macula|Peripheral_neuropathy RCV000008328.5|RCV000008329.3|RCV000085494.2|RCV000197749.1|RCV000408474.1|RCV000408579.1|RCV000415097.1|RCV000415097.1 MedGen:OMIM|MedGen:OMIM|MedGen|MedGen:OMIM|MedGen:OMIM|MedGen:OMIM|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen C1855465:248200|C1858806:604116|CN221809|C1855465:248200|C1855465:248200|C1855465:248200|HP:0001103:C0730362|HP:0009830:C0442874 . . . . . . 0.002 0.721 D 0.795 0.455 P 0.466 0.448 P 0.000 0.629 D 0.995 0.588 A 3.175 0.890 M -1.04 0.766 T -5.66 0.870 D 0.829 0.838 0.063 0.835 D 0.437 0.777 T . . . 5.667 0.773 26.7 0.997 0.819 0.988 0.876 D c 0.584 0.586 1.000 0.747 0.497 0.185 0 4.9 0.635 7.041 0.761 0.935 0.490 1.000 0.715 0.959 0.439 15.279 0.734 . . . 0.0044 0.0013 0.0011 0.0022 0 0.0011 0.0081 0.0031 0.0020 0.0036 0.0013 0.0036 0 0 0.0014 0.0060 0.0041 het 1168.40 93 1 94517254 . C G 1168.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.769;DP=93;Dels=0.00;FS=2.910;HRun=0;HaplotypeScore=0.0000;MQ=59.50;MQ0=0;MQRankSum=2.089;QD=12.56;ReadPosRankSum=-0.394;VQSLOD=5.1981;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:47,46:93:99:1198,0,1193 1 94578548 94578548 T C exonic ABCA4 synonymous SNV ABCA4:NM_000350:exon2:c.A141G:p.P47P 0.99 0.95 1. 1. 1. 1. 0.9964 0.9603 0.9984 1 1 0.9999 0.9989 0.9998 0.99 0.96 1. 1. 1. rs4847281 . . not provided\x2cBenign not_provided\x2cnot_specified RCV000085396.1\x2cRCV000152712.2 MedGen\x2cMedGen CN221809\x2cCN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9972 0.9597 0.9983 1 0.9999 1 0.9999 0.9995 0.9998 0.9890 0.9619 0.9976 1 1 1 0.9998 0.9969 hom 5302.98 185 1 94578548 . T C 5302.98 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9940;MQ=59.55;MQ0=0;QD=28.66;VQSLOD=8.3173;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5302,409,0 1 94639447 94639447 C T exonic ARHGAP29 nonsynonymous SNV ARHGAP29:NM_001328665:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328667:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328664:exon23:c.G3764A:p.G1255D,ARHGAP29:NM_001328666:exon23:c.G3737A:p.G1246D,ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D 0.94 0.8 0.98 1. 1. 1. 0.9849 0.8344 0.9941 1 1 0.9996 0.9978 0.9998 0.94 0.84 1. 0.92 0.99 rs1999272 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.001 0.397 N 1.000 0.197 P -2.33 0.001 N 2.18 0.189 T 0.46 0.031 N 0.076 0.067 -0.947 0.416 T 0.005 0.017 T . . . 1.555 0.249 13.60 0.147 0.003 0.078 0.137 N c -0.712 -0.422 0.999 0.374 0.672 0.522 0 4.69 0.584 1.983 0.400 0.119 0.209 1.000 0.715 0.999 0.750 7.524 0.266 . . . 0.9882 0.8315 0.9931 1 1 1.0000 0.9997 0.9961 0.9997 0.9559 0.8460 0.9976 1 1 1 0.9994 0.9888 hom 6604.64 211 1 94639447 . C T 6604.64 Mask AC=2;AF=1.00;AN=2;DP=211;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.1357;MQ=59.66;MQ0=0;QD=31.30;VQSLOD=7.1211;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,211:211:99:6604,533,0 1 94643531 94643531 T C exonic ARHGAP29 synonymous SNV ARHGAP29:NM_001328665:exon20:c.A2481G:p.Q827Q,ARHGAP29:NM_001328667:exon20:c.A2481G:p.Q827Q,ARHGAP29:NM_001328664:exon21:c.A2673G:p.Q891Q,ARHGAP29:NM_001328666:exon21:c.A2646G:p.Q882Q,ARHGAP29:NM_004815:exon21:c.A2673G:p.Q891Q 0.14 0.032 0.21 0.002 0.3 0.2 0.2181 0.0639 0.2214 0.0027 0.2470 0.2731 0.2269 0.1916 0.2 0.069 0.26 0.11 0.21 rs1048854 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2202 0.0582 0.2120 0.2710 0.0027 0.2480 0.2734 0.2618 0.1947 0.1917 0.0639 0.1950 0.2848 0.0006 0.2457 0.2685 0.2469 hom 4134.40 123 1 94643531 . T C 4134.40 Mask AC=2;AF=1.00;AN=2;DP=123;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.25;MQ0=0;QD=33.61;VQSLOD=9.8168;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,123:123:99:4134,316,0 1 94930345 94930345 G A exonic ABCD3 synonymous SNV ABCD3:NM_001122674:exon3:c.G162A:p.K54K,ABCD3:NM_002858:exon3:c.G162A:p.K54K 0.28 0.1 0.39 0.2 0.5 0.3 0.3923 0.1476 0.3755 0.2093 0.3603 0.4691 0.4075 0.3562 0.37 0.16 0.48 0.36 0.31 rs16946 COSM3751462;COSM3751463 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) Benign not_specified RCV000242700.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3975 0.1438 0.3752 0.4510 0.2084 0.3639 0.4768 0.4489 0.3649 0.3488 0.1575 0.3753 0.4233 0.2076 0.3586 0.4651 0.4261 hom 2991.61 96 1 94930345 . G A 2991.61 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=5;HaplotypeScore=0.0000;MQ=59.06;MQ0=0;QD=31.16;VQSLOD=9.4031;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,96:96:99:3025,232,0 1 95001600 95001600 A C exonic F3 synonymous SNV F3:NM_001178096:exon3:c.T333G:p.P111P,F3:NM_001993:exon3:c.T333G:p.P111P 0.98 0.94 1. 1. 1. 1. 0.9950 0.9435 0.9982 1 1 1.0000 0.9989 1 0.98 0.95 1. 0.98 1. rs698946 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9963 0.9462 0.9979 1 1 1 0.9999 0.9985 0.9999 0.9867 0.9532 0.9988 1 1 1 1 0.9969 hom 8257.28 250 1 95001600 . A C 8257.28 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.2931;MQ=59.48;MQ0=0;QD=33.03;VQSLOD=9.9574;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:250:99:8256,677,0 1 95330372 95330372 G A exonic SLC44A3 nonsynonymous SNV SLC44A3:NM_001258342:exon10:c.G1204A:p.V402I,SLC44A3:NM_001258343:exon10:c.G1108A:p.V370I,SLC44A3:NM_001301079:exon10:c.G1072A:p.V358I,SLC44A3:NM_001350223:exon10:c.G1021A:p.V341I,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 0.75 0.48 0.81 0.98 0.78 0.81 0.7701 0.5396 0.8824 0.9812 0.8011 0.7562 0.7544 0.7709 0.68 0.55 0.75 0.7 0.68 rs859098 COSM4165352;COSM4165351 1(kidney);1(pancreas) . . . . . . . . . . . 0.065 0.375 T 0.312 0.449 B 0.056 0.416 B 0.027 0.258 N 1 0.090 P 1.87 0.498 L 2.26 0.176 T -0.64 0.193 N 0.047 0.039 -1.103 0.037 T 0.030 0.128 T . . . 1.894 0.288 15.55 0.988 0.453 0.821 0.411 D c -0.054 -0.029 1.000 0.747 0.653 0.482 0 5.63 0.861 4.195 0.580 0.135 0.219 0.997 0.399 0.002 0.062 13.912 0.632 . ENSG00000235565.1|ENSG00000224081.3|ENSG00000235565.1|ENSG00000224081.3|ENSG00000143036.12|ENSG00000237416.2 Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Thyroid 0.7807 0.5357 0.8822 0.7140 0.9807 0.8042 0.7566 0.7692 0.7736 0.7141 0.5358 0.8604 0.6921 0.9815 0.8057 0.7559 0.7735 hom 7809.05 243 1 95330372 . G A 7809.05 Mask AC=2;AF=1.00;AN=2;DP=243;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8907;MQ=59.48;MQ0=0;QD=32.14;VQSLOD=9.5358;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,242:243:99:7808,620,0 1 95709821 95709821 T C exonic RWDD3 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,RWDD3:NM_001278247:exon3:c.T95C:p.V32A,RWDD3:NM_001278248:exon3:c.T95C:p.V32A 0.98 0.94 1. 1. 1. 1. 0.9955 0.9508 0.9980 1 1 0.9996 0.9978 0.9998 0.99 0.96 1. 0.95 1. rs259358 . . . . . . . . . . . . . 0.452 0.089 T 0.0 0.067 B 0.001 0.063 B 0.507 0.051 N 1 0.090 P -0.22 0.040 N 2.03 0.210 T 0.62 0.030 N 0.005 0.065 -0.978 0.354 T 0.004 0.012 T . . . -2.916 0.001 0.001 0.433 0.032 0.009 0.034 N c -1.984 -1.995 0.997 0.353 0.719 0.830 0 -9.18 0.006 -0.491 0.065 -1.934 0.005 0.019 0.194 0.001 0.043 7.487 0.264 RWD domain|Ubiquitin-conjugating enzyme/RWD-like . . 0.9962 0.9513 0.9971 0.9999 1 1 0.9995 0.9953 0.9999 0.9862 0.9518 0.9976 1 1 1 0.9999 0.9969 hom 3415.54 110 1 95709821 . T C 3415.54 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.18;MQ0=0;QD=31.05;VQSLOD=9.7070;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3415,274,0 1 95709939 95709939 T G exonic RWDD3 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,RWDD3:NM_001278247:exon3:c.T213G:p.N71K,RWDD3:NM_001278248:exon3:c.T213G:p.N71K 0.82 0.68 0.85 0.8 0.87 0.93 0.8548 0.7089 0.8351 0.7729 0.8792 0.8646 0.8956 0.9466 0.82 0.72 0.87 0.75 0.8 rs2296308 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.559 N 1 0.090 P -2.615 0.000 N 2.14 0.194 T 1.42 0.011 N 0.027 0.012 -0.999 0.302 T 0.002 0.007 T . . . -2.542 0.003 0.001 0.491 0.041 0.035 0.086 N c -2.181 -2.001 0.040 0.144 0.719 0.830 0 -1.54 0.081 -0.117 0.106 -1.394 0.012 0.731 0.287 0.075 0.178 9.064 0.354 RWD domain|Ubiquitin-conjugating enzyme/RWD-like ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000226026.1|ENSG00000122481.12|ENSG00000228852.2|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000122481.12|ENSG00000228852.2|ENSG00000226026.1|ENSG00000228852.2|ENSG00000228852.2|ENSG00000228852.2|ENSG00000226026.1|ENSG00000228852.2|ENSG00000226026.1|ENSG00000122481.12|ENSG00000228852.2|ENSG00000226026.1 Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Thyroid 0.8555 0.7046 0.8272 0.8707 0.7750 0.8760 0.8660 0.8679 0.9462 0.8209 0.7189 0.8401 0.8907 0.7618 0.8706 0.8696 0.8615 hom 3972.74 116 1 95709939 . T G 3972.74 Mask AC=2;AF=1.00;AN=2;DP=116;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.80;MQ0=0;QD=34.25;VQSLOD=9.7692;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,116:116:99:3972,313,0 1 97272456 97272456 A G exonic PTBP2 synonymous SNV PTBP2:NM_001300990:exon10:c.A957G:p.L319L,PTBP2:NM_001300985:exon11:c.A1128G:p.L376L,PTBP2:NM_001300986:exon11:c.A1137G:p.L379L,PTBP2:NM_001300988:exon11:c.A1128G:p.L376L,PTBP2:NM_001300989:exon11:c.A1113G:p.L371L,PTBP2:NM_021190:exon11:c.A1113G:p.L371L,PTBP2:NM_001300987:exon12:c.A1161G:p.L387L 0.28 0.54 0.15 0.21 0.21 0.15 0.2123 0.5025 0.1368 0.2116 0.1947 0.1949 0.2026 0.1610 0.29 0.5 0.19 0.24 0.2 rs6699932 COSM3747120 1(haematopoietic_and_lymphoid_tissue);1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.202 0.5012 0.1426 0.2292 0.2103 0.2016 0.1873 0.1992 0.1580 0.2786 0.4998 0.1603 0.2715 0.1984 0.1934 0.1892 0.2204 het 1149.29 119 1 97272456 . A G 1149.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.192;DP=119;Dels=0.00;FS=0.683;HRun=0;HaplotypeScore=2.4720;MQ=58.22;MQ0=0;MQRankSum=1.546;QD=9.66;ReadPosRankSum=0.201;VQSLOD=5.6784;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,52:119:99:1179,0,1599 1 97981395 97981395 T C exonic DPYD nonsynonymous SNV DPYD:NM_000110:exon13:c.A1627G:p.I543V 0.18 0.15 0.27 0.27 0.19 0.083 0.1930 0.1574 0.3116 0.2515 0.1655 0.1978 0.1803 0.0951 0.18 0.16 0.2 0.17 0.19 rs1801159 COSM3747121 1(liver);1(large_intestine) not provided|Benign|Likely benign not_provided|not_specified|Dihydropyrimidine_dehydrogenase_deficiency RCV000086475.1|RCV000174446.2|RCV000389596.1 MedGen|MedGen|MedGen:OMIM CN221809|CN169374|C2720286:274270 . . . . . . 0.111 0.290 T 0.0 0.026 B 0.0 0.013 B 0.007 0.314 N 1.000 0.197 P 0.49 0.133 N -0.8 0.739 T 0.73 0.021 N 0.023 0.006 -1.011 0.266 T 0.053 0.225 T . . . 0.829 0.173 9.639 0.960 0.278 0.809 0.401 D c -1.000 -0.919 0.007 0.115 0.693 0.558 0 -3.13 0.049 1.397 0.339 -0.169 0.106 0.994 0.380 0.975 0.474 9.702 0.392 Aldolase-type TIM barrel|Dihydroorotate dehydrogenase domain . . 0.1968 0.1569 0.2974 0.2034 0.2528 0.1680 0.1970 0.1945 0.0944 0.1754 0.1552 0.2608 0.21 0.2427 0.1556 0.1802 0.1612 het 1035.15 60 1 97981395 . T C 1035.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.411;DP=60;Dels=0.00;FS=1.095;HRun=0;HaplotypeScore=0.9867;MQ=58.45;MQ0=0;MQRankSum=-0.196;QD=17.25;ReadPosRankSum=1.121;VQSLOD=5.1390;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:20,40:60:99:1065,0,424 1 98348885 98348885 G A exonic DPYD nonsynonymous SNV DPYD:NM_000110:exon2:c.C85T:p.R29C,DPYD:NM_001160301:exon2:c.C85T:p.R29C 0.74 0.56 0.78 0.91 0.79 0.73 0.7652 0.5836 0.7928 0.9258 0.7035 0.7788 0.7737 0.7456 0.72 0.6 0.78 0.69 0.81 rs1801265 COSM3735988;COSM3735989 1(skin) Pathogenic\x2cnot provided Dihydropyrimidine_dehydrogenase_deficiency\x2cnot_provided RCV000000464.2\x2cRCV000086506.1 MedGen:OMIM\x2cMedGen C2720286:274270\x2cCN221809 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7709 0.5870 0.7883 0.8859 0.9287 0.7055 0.7767 0.7663 0.7451 0.7199 0.5991 0.7769 0.8642 0.9284 0.7140 0.7626 0.7352 hom 3393.19 118 1 98348885 . G A 3393.19 Mask AC=2;AF=1.00;AN=2;DP=118;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.52;MQ0=0;QD=28.76;VQSLOD=8.2031;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,118:118:99:3393,265,0 1 99225627 99225627 G A exonic SNX7 synonymous SNV SNX7:NM_152238:exon8:c.G1131A:p.E377E,SNX7:NM_015976:exon9:c.G1296A:p.E432E 0.88 0.87 0.91 0.67 0.99 0.97 0.9378 0.8923 0.8424 0.6455 0.9741 0.9865 0.9514 0.9723 0.96 0.9 0.99 0.86 0.98 rs2019213 COSM3997720;COSM3997719 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9350 0.8938 0.8486 0.9883 0.6500 0.9731 0.9867 0.9595 0.9721 0.9397 0.8978 0.8549 0.9967 0.6478 0.9745 0.9887 0.9633 hom 1995.75 68 1 99225627 . G A 1995.75 Mask AC=2;AF=1.00;AN=2;DP=68;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8410;MQ=58.20;MQ0=0;QD=29.35;VQSLOD=7.8522;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,68:68:99:2029,156,0 1 99418647 99418647 G C exonic PLPPR5 synonymous SNV PLPPR5:NM_001010861:exon3:c.C600G:p.V200V,PLPPR5:NM_001037317:exon3:c.C600G:p.V200V 0.22 0.27 0.16 0.24 0.18 0.23 0.1952 0.2688 0.1532 0.2305 0.2048 0.1754 0.2026 0.2357 0.21 0.27 0.17 0.22 0.2 rs309087 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1914 0.2671 0.1513 0.1480 0.2272 0.1994 0.1781 0.1861 0.2348 0.2069 0.2776 0.1480 0.1722 0.2257 0.1901 0.1733 0.1830 het 817.94 72 1 99418647 . G C 817.94 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.167;DP=72;Dels=0.00;FS=0.964;HRun=0;HaplotypeScore=2.8649;MQ=57.12;MQ0=1;MQRankSum=1.770;QD=11.36;ReadPosRankSum=1.308;VQSLOD=4.3130;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:39,33:72:99:848,0,1017 1 100336361 100336361 C T exonic AGL synonymous SNV 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 0.76 0.93 0.7 0.68 0.68 0.75 0.7214 0.9144 0.6901 0.6811 0.6795 0.7011 0.6998 0.7494 0.77 0.91 0.7 0.75 0.66 rs2230306 . . Benign|Benign not_specified|Glycogen_storage_disease_type_III RCV000179774.3|RCV000327447.1 MedGen|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|C0017922:232400:ORPHA308684:66937008 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7168 0.9165 0.6916 0.6933 0.6854 0.6749 0.7030 0.7147 0.7511 0.7554 0.9147 0.6909 0.7318 0.7017 0.6999 0.6887 0.7039 hom 1085.37 36 1 100336361 . C T 1085.37 Mask AC=2;AF=1.00;AN=2;DP=36;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=30.15;VQSLOD=13.0005;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,36:36:84.27:1118,84,0 1 100575933 100575933 G A exonic SASS6 nonsynonymous SNV SASS6:NM_001304829:exon7:c.C275T:p.A92V,SASS6:NM_194292:exon8:c.C776T:p.A259V 0.35 0.066 0.56 0.58 0.39 0.31 0.3994 0.1145 0.6551 0.5861 0.4188 0.3932 0.3980 0.3191 0.31 0.13 0.4 0.29 0.34 rs13375867 COSM3747458 1(liver) . . . . . . . . . . . 0.277 0.156 T 0.018 0.165 B 0.009 0.133 B 0.014 0.287 N 1 0.090 P 0.665 0.163 N -1.16 0.781 T -1.48 0.362 N 0.034 0.014 -1.060 0.117 T 0.097 0.364 T . . . 2.370 0.346 18.62 0.979 0.360 0.070 0.128 N c -0.515 -0.373 0.236 0.185 0.615 0.372 0 3.41 0.380 1.301 0.328 1.048 0.713 0.011 0.184 0.993 0.574 5.270 0.148 . . . 0.4112 0.1134 0.6245 0.2999 0.5720 0.4191 0.4002 0.4012 0.3128 0.3465 0.1223 0.5644 0.3033 0.5690 0.4422 0.4167 0.3926 het 808.78 46 1 100575933 . G A 808.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.614;DP=46;Dels=0.00;FS=2.755;HRun=0;HaplotypeScore=0.0000;MQ=56.47;MQ0=0;MQRankSum=0.132;QD=17.58;ReadPosRankSum=-1.914;VQSLOD=2.7183;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:15,31:46:99:839,0,382 1 100598866 100598866 G A exonic TRMT13 nonsynonymous SNV TRMT13:NM_019083:exon1:c.G142A:p.A48T 0.76 0.38 0.89 0.93 0.85 0.9 0.8402 0.4465 0.9332 0.9562 0.8891 0.8511 0.8604 0.8952 0.71 0.46 0.85 . 0.66 rs472498 . . . . . . . . . . . . . 0.285 0.226 T 0.196 0.279 B 0.04 0.225 B 0.001 0.407 D 0.928 0.290 P 0.83 0.210 L 0.87 0.475 T -0.85 0.260 N 0.182 0.226 -1.080 0.074 T 0.037 0.161 T . . . 3.357 0.462 22.9 0.996 0.761 0.078 0.137 N c -0.263 -0.120 1.000 0.747 0.442 0.072 0 4.07 0.466 2.023 0.404 0.953 0.551 0.881 0.308 0.995 0.604 10.376 0.431 . ENSG00000137996.8|ENSG00000137996.8|ENSG00000122477.8|ENSG00000137996.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000137996.8 Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Muscularis|Ovary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8520 0.4424 0.9209 0.8904 0.9593 0.8840 0.8490 0.8541 0.8947 0.7461 0.4483 0.9075 0.9106 0.9621 0.8840 0.8458 0.8326 hom 1702.91 56 1 100598866 . G A 1702.91 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=30.41;VQSLOD=8.4052;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1736,138,0 1 100598867 100598867 C T exonic TRMT13 nonsynonymous SNV TRMT13:NM_019083:exon1:c.C143T:p.A48V 0.76 0.38 0.89 0.93 0.85 0.9 0.8403 0.4467 0.9332 0.9562 0.8890 0.8512 0.8607 0.8953 0.71 0.46 0.85 . 0.66 rs687513 . . . . . . . . . . . . . 0.093 0.315 T 0.327 0.314 B 0.055 0.246 B 0.001 0.407 D 0.602 0.309 P 0.975 0.246 L 0.85 0.488 T -1.6 0.399 N 0.155 0.191 -1.073 0.089 T 0.046 0.199 T . . . 4.057 0.545 23.7 0.998 0.857 0.065 0.124 N c -0.046 0.083 1.000 0.747 0.442 0.072 0 4.99 0.658 1.503 0.351 0.852 0.362 0.892 0.310 0.995 0.604 8.404 0.316 . ENSG00000137996.8|ENSG00000137996.8|ENSG00000122477.8|ENSG00000117620.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000117620.8|ENSG00000137996.8 Artery_Aorta|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Cells_Transformed_fibroblasts|Esophagus_Muscularis|Lung|Ovary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8520 0.4424 0.9209 0.8904 0.9593 0.8839 0.8491 0.8541 0.8947 0.7462 0.4485 0.9075 0.9106 0.9621 0.8840 0.8457 0.8330 hom 1675.23 53 1 100598867 . C T 1675.23 Mask AC=2;AF=1.00;AN=2;DP=53;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.56;MQ0=0;QD=31.61;VQSLOD=9.4010;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,53:53:99:1708,135,0 1 100672060 100672060 T C exonic DBT nonsynonymous SNV DBT:NM_001918:exon9:c.A1150G:p.S384G 0.89 0.74 0.95 0.95 0.92 0.96 0.9138 0.7642 0.9628 0.9703 0.9338 0.9096 0.9306 0.9521 0.86 0.77 0.9 0.87 0.88 rs12021720 . . Pathogenic\x2cother Intermediate_maple_syrup_urine_disease_type_2\x2cnot_specified RCV000012727.23\x2cRCV000116865.5 MedGen\x2cMedGen CN069615\x2cCN169374 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 1 0.090 P . . . 1.19 0.376 T 3.03 0.001 N 0.155 0.185 -1.012 0.262 T 0.014 0.055 T . . . -0.197 0.076 1.112 0.151 0.004 0.017 0.052 N c -0.706 -0.588 0.043 0.146 0.707 0.730 0 4.4 0.522 1.939 0.396 0.069 0.176 0.586 0.274 0.510 0.273 9.627 0.387 2-oxoacid dehydrogenase acyltransferase\x2c catalytic domain|Chloramphenicol acetyltransferase-like domain ENSG00000137996.8|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137996.8|ENSG00000117620.8|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137992.10|ENSG00000137996.8|ENSG00000137996.8|ENSG00000137996.8 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis|Thyroid 0.9179 0.7639 0.9548 0.9170 0.9705 0.9306 0.9081 0.9132 0.9522 0.8826 0.7705 0.9523 0.9205 0.9703 0.9358 0.9186 0.9223 hom 8490.70 249 1 100672060 . T C 8490.70 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.1396;MQ=59.47;MQ0=0;QD=34.10;VQSLOD=9.3821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:8490,659,0 1 101203698 101203698 C T exonic VCAM1 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 0.13 0.17 0.24 0.021 0.15 0.084 0.1577 0.1582 0.2855 0.0111 0.1184 0.1748 0.1377 0.0918 0.17 0.16 0.17 0.054 0.29 rs3176878 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1615 0.1596 0.2761 0.2676 0.0121 0.1269 0.1665 0.1698 0.0925 0.1561 0.1602 0.2494 0.3046 0.0149 0.1237 0.1695 0.1370 het 1648.59 176 1 101203698 . C T 1648.59 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.173;DP=176;Dels=0.00;FS=1.939;HRun=1;HaplotypeScore=1.9963;MQ=59.21;MQ0=0;MQRankSum=0.294;QD=9.37;ReadPosRankSum=0.455;VQSLOD=6.6360;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:107,69:176:99:1679,0,2879 1 101203827 101203827 G A exonic VCAM1 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 0.87 0.69 0.96 0.85 0.97 0.97 0.9374 0.7095 0.9666 0.8306 0.9682 0.9716 0.9548 0.9649 0.88 0.72 0.97 0.81 0.97 rs3176879 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9422 0.7061 0.9656 0.9682 0.8344 0.9663 0.9703 0.9598 0.9636 0.8887 0.7227 0.9618 0.9536 0.8350 0.9625 0.9644 0.95 hom 2904.53 90 1 101203827 . G A 2904.53 Mask AC=2;AF=1.00;AN=2;DP=90;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=32.27;VQSLOD=9.5263;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,90:90:99:2938,235,0 1 103352451 103352451 A G exonic COL11A1 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 0.48 0.05 0.75 0.66 0.61 0.57 0.5801 0.1263 0.7508 0.6445 0.6522 0.6067 0.6222 0.5743 0.45 0.14 0.61 0.37 0.55 rs2229783 COSM3747460;COSM3747461 1(haematopoietic_and_lymphoid_tissue);1(liver);1(upper_aerodigestive_tract) Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Fibrochondrogenesis|Marshall_syndrome RCV000246005.2|RCV000289617.1|RCV000346871.1|RCV000397321.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|CN239460|C0265282:228520:ORPHA2021:17144009|C0265235:154780:33410002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5946 0.1195 0.7331 0.5558 0.6383 0.6491 0.6093 0.6165 0.5708 0.4908 0.1380 0.6746 0.5430 0.6694 0.6385 0.6237 0.6051 het 1282.05 134 1 103352451 . A G 1282.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.973;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7331;MQ=59.72;MQ0=0;MQRankSum=0.153;QD=9.57;ReadPosRankSum=-0.372;VQSLOD=6.5072;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:79,55:134:99:1312,0,2290 1 103354138 103354138 A G exonic COL11A1 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 0.78 0.8 0.89 0.75 0.83 0.66 0.7942 0.8103 0.8781 0.7304 0.8634 0.8088 0.8289 0.6706 0.81 0.8 0.81 0.76 0.72 rs1676486 COSM5438333;COSM5438332 1(oesophagus) other|Benign|Benign|Benign|Benign Lumbar_disc_herniation\x2c_susceptibility_to|not_specified|Stickler_Syndrome\x2c_Dominant|Fibrochondrogenesis|Marshall_syndrome RCV000018675.5|RCV000252849.2|RCV000292881.1|RCV000332848.1|RCV000387237.1 MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT C2676840|CN169374|CN239460|C0265282:228520:ORPHA2021:17144009|C0265235:154780:33410002 . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.601 0.309 P -1.41 0.006 N -3.42 0.944 D 4.95 0.000 N 0.112 0.188 -0.805 0.549 T 0.204 0.562 T . . . 2.942 0.414 22.0 0.666 0.079 0.094 0.150 N c -0.698 -0.341 0.981 0.301 0.706 0.609 0 5.67 0.876 5.474 0.663 0.138 0.222 1.000 0.715 0.963 0.446 14.890 0.701 . . . 0.7995 0.8070 0.8728 0.8211 0.7251 0.8621 0.8086 0.8157 0.6698 0.8121 0.8054 0.8505 0.8079 0.7658 0.8545 0.8092 0.8096 het 634.20 39 1 103354138 . A G 634.20 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.147;DP=39;Dels=0.00;FS=2.920;HRun=1;HaplotypeScore=0.7887;MQ=57.12;MQ0=0;MQRankSum=-1.098;QD=16.26;ReadPosRankSum=-2.328;VQSLOD=2.5415;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:14,25:39:99:664,0,303 1 103354428 103354428 A G exonic COL11A1 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 0.62 0.26 0.84 0.75 0.8 0.65 0.7239 0.3112 0.8342 0.7251 0.8109 0.7779 0.7698 0.6491 0.62 0.32 0.78 0.53 0.7 rs1763347 COSM423331;COSM423330 1(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Marshall_syndrome|Fibrochondrogenesis RCV000249297.2|RCV000304656.1|RCV000334895.1|RCV000395180.1 MedGen|MedGen|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT CN169374|CN239460|C0265235:154780:33410002|C0265282:228520:ORPHA2021:17144009 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7376 0.3005 0.8250 0.7963 0.7192 0.8088 0.7776 0.7704 0.6488 0.6501 0.3125 0.8103 0.7848 0.7559 0.8027 0.7805 0.7531 het 779.01 71 1 103354428 . A G 779.01 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.453;DP=71;Dels=0.00;FS=1.984;HRun=0;HaplotypeScore=0.8321;MQ=60.00;MQ0=0;MQRankSum=1.262;QD=10.97;ReadPosRankSum=-1.355;VQSLOD=6.0601;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,33:71:99:809,0,898 1 103379918 103379918 G A exonic COL11A1 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 0.5 0.049 0.76 0.7 0.61 0.59 0.5916 0.1264 0.7617 0.6892 0.6703 0.6114 0.6425 0.5933 0.45 0.14 0.61 0.36 0.53 rs3753841 COSM3747463;COSM3747462 1(liver);1(upper_aerodigestive_tract) Benign|Benign|Benign|Benign not_specified|Stickler_Syndrome\x2c_Dominant|Fibrochondrogenesis|Marshall_syndrome RCV000247078.2|RCV000270271.1|RCV000328768.1|RCV000364819.1 MedGen|MedGen|MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM:SNOMED_CT CN169374|CN239460|C0265282:228520:ORPHA2021:17144009|C0265235:154780:33410002 Glaucoma (primary open-angle) 0.83 . 22922875 rs3753841 9E-10 0.042 0.416 D 0.104 0.503 B 0.024 0.528 B 0.000 0.629 D 0.000 0.588 P 2.62 0.769 M -4.09 0.966 D -5.73 0.876 D 0.198 0.567 0.969 0.967 D 0.915 0.972 D . . . 5.659 0.771 26.7 0.998 0.844 0.997 0.985 D c 0.508 0.615 1.000 0.747 0.693 0.558 0 5.75 0.904 9.294 0.951 1.048 0.713 1.000 0.715 1.000 0.888 19.960 0.972 . . . 0.6065 0.1172 0.7461 0.5941 0.6835 0.6689 0.6118 0.6266 0.5906 0.4980 0.1362 0.6848 0.5993 0.7016 0.6620 0.6284 0.6204 het 667.71 57 1 103379918 . G A 667.71 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.918;DP=57;Dels=0.00;FS=2.182;HRun=1;HaplotypeScore=0.7340;MQ=58.27;MQ0=0;MQRankSum=-0.312;QD=11.71;ReadPosRankSum=0.574;VQSLOD=5.6216;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,30:57:99:698,0,631 1 107979396 107979396 A C exonic NTNG1 synonymous SNV NTNG1:NM_001113226:exon6:c.A1365C:p.G455G,NTNG1:NM_001312688:exon7:c.A1263C:p.G421G 0.95 0.82 0.99 1. 1. 1. 0.9858 0.8399 0.9919 1 1 0.9994 0.9933 0.9997 0.95 0.85 1. 0.85 . rs480392 COSM4142084;COSM4142083 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9886 0.8416 0.9920 0.9995 1 1 0.9994 0.9936 0.9997 0.9556 0.8445 0.9940 1 1 1 0.9994 0.9959 hom 3394.25 103 1 107979396 . A C 3394.25 Mask AC=2;AF=1.00;AN=2;DP=103;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9993;MQ=60.00;MQ0=0;QD=32.95;VQSLOD=9.3009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,103:103:99:3394,256,0 1 108185301 108185301 C G exonic VAV3 nonsynonymous SNV VAV3:NM_001079874:exon3:c.G174C:p.Q58H,VAV3:NM_006113:exon20:c.G1854C:p.Q618H 0.15 0.047 0.17 0.23 0.13 0.23 0.1545 0.0690 0.1816 0.2334 0.0979 0.1466 0.1410 0.2034 0.13 0.078 0.15 0.076 0.18 rs12403266 COSM146568;COSM4415694 1(stomach);1(haematopoietic_and_lymphoid_tissue);4(soft_tissue) . . . . . . . . . . . 0.078 0.339 T 0.0 0.026 B 0.001 0.040 B 0.032 0.251 N 1 0.090 P -0.845 0.015 N 1.57 0.293 T 0.42 0.034 N 0.036 0.121 -1.022 0.230 T 0.018 0.074 T . . . -0.434 0.059 0.320 0.115 0.002 0.085 0.143 N c -0.614 -0.607 0.000 0.044 0.693 0.558 0 -0.382 0.118 -0.045 0.119 -0.534 0.049 0.944 0.326 0.303 0.238 6.430 0.209 Calmodulin-regulated spectrin-associated protein\x2c CH domain|Calponin homology domain;SH3 domain|Variant SH3 domain . . 0.1544 0.0669 0.1840 0.1435 0.2264 0.0915 0.1475 0.1445 0.2013 0.1227 0.0721 0.1799 0.1391 0.1987 0.0902 0.1478 0.1268 hom 2199.03 69 1 108185301 . C G 2199.03 Mask AC=2;AF=1.00;AN=2;DP=69;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3691;MQ=58.94;MQ0=0;QD=31.87;VQSLOD=8.5879;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,69:69:99:2232,172,0 1 108185309 108185309 G A exonic VAV3 nonsynonymous SNV VAV3:NM_001079874:exon3:c.C166T:p.P56S,VAV3:NM_006113:exon20:c.C1846T:p.P616S 0.14 0.044 0.16 0.21 0.11 0.23 0.1360 0.0614 0.1733 0.2112 0.0859 0.1213 0.1233 0.1982 0.11 0.068 0.12 0.076 0.18 rs12410676 COSM4416270;COSM4416271 1(haematopoietic_and_lymphoid_tissue);4(soft_tissue) . . . . . . . . . . . 0.48 0.082 T 0.005 0.258 B 0.01 0.246 B 0.001 0.414 D 0.104 0.383 P 1.475 0.372 L 1.6 0.286 T -1.33 0.418 N 0.058 0.163 -1.061 0.114 T 0.024 0.101 T . . . -0.666 0.047 0.086 0.204 0.007 0.801 0.395 D c -0.588 -0.497 0.001 0.081 0.638 0.428 0 3.79 0.426 3.080 0.496 -0.288 0.083 1.000 0.715 0.200 0.217 7.840 0.284 Calmodulin-regulated spectrin-associated protein\x2c CH domain|Calponin homology domain;SH3 domain|Variant SH3 domain . . 0.1369 0.0600 0.1744 0.1143 0.2061 0.0793 0.1230 0.1314 0.1963 0.1015 0.0646 0.1731 0.1093 0.1778 0.0768 0.1162 0.1074 het 907.60 72 1 108185309 . G A 907.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.192;DP=72;Dels=0.00;FS=0.923;HRun=0;HaplotypeScore=3.3417;MQ=58.98;MQ0=0;MQRankSum=-1.328;QD=12.61;ReadPosRankSum=-1.110;VQSLOD=5.5679;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,35:72:99:938,0,965 1 108307727 108307727 T A exonic VAV3 nonsynonymous SNV VAV3:NM_006113:exon9:c.A892T:p.T298S 0.51 0.59 0.43 0.39 0.7 0.38 0.5883 0.6034 0.3551 0.3820 0.6806 0.6906 0.5806 0.4002 0.67 0.61 0.7 0.55 0.71 rs7528153 . . . . . . . . . . . . . 0.616 0.054 T 0.566 0.366 P 0.338 0.405 B 0.000 0.559 D 0.001 0.460 P 1.235 0.309 L -0.26 0.672 T -0.16 0.095 N 0.024 0.098 -1.046 0.154 T 0.081 0.319 T . . . 1.178 0.208 11.63 0.919 0.206 0.907 0.519 D c -0.229 -0.073 0.003 0.099 0.615 0.372 0 4.5 0.542 0.851 0.272 0.964 0.580 1.000 0.715 1.000 0.888 6.565 0.216 Dbl homology (DH) domain . . 0.5839 0.6023 0.3841 0.6594 0.3859 0.6834 0.6941 0.6150 0.4017 0.6488 0.6072 0.4499 0.6424 0.3919 0.6716 0.7041 0.6847 hom 2907.40 112 1 108307727 . T A 2907.40 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.451;DP=112;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9973;MQ=59.04;MQ0=0;MQRankSum=1.638;QD=25.96;ReadPosRankSum=1.482;VQSLOD=6.3501;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,110:112:99:2940,200,0 1 108313258 108313258 C T exonic VAV3 synonymous SNV VAV3:NM_006113:exon6:c.G648A:p.K216K 0.67 0.69 0.62 0.68 0.78 0.57 0.7279 0.7038 0.6205 0.6726 0.8044 0.7844 0.6932 0.5901 0.76 0.71 0.79 0.74 0.66 rs6583048 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7253 0.7029 0.6239 0.7238 0.6758 0.8018 0.7876 0.7301 0.5888 0.7616 0.7060 0.6480 0.7152 0.6758 0.7898 0.8021 0.7883 hom 2543.42 84 1 108313258 . C T 2543.42 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.20;MQ0=0;QD=30.28;VQSLOD=9.1597;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2576,193,0 1 109268441 109268441 G A exonic FNDC7 nonsynonymous SNV FNDC7:NM_001144937:exon6:c.G926A:p.S309N 0.17 0.32 0.086 0.099 0.14 0.12 0.1478 0.3059 0.0681 0.0952 0.2148 0.1444 0.1490 0.1182 0.2 0.3 0.15 0.18 0.16 rs11582005 COSM4382630;COSM146569;COSM4382629 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.288 0.148 N 1 0.090 P -0.895 0.014 N 1.92 0.231 T -0.35 0.129 N 0.003 0.041 -1.021 0.235 T 0.012 0.047 T . . . -1.307 0.022 0.004 0.395 0.027 0.007 0.030 N c -1.808 -1.832 0.230 0.184 0.487 0.133 0 -8.02 0.010 -2.476 0.011 -1.081 0.019 0.000 0.063 0.942 0.416 14.254 0.654 Fibronectin type III . . 0.1445 0.3077 0.0726 0.1606 0.0975 0.2185 0.1434 0.1337 0.1156 0.2016 0.2984 0.0764 0.1391 0.1023 0.2129 0.1616 0.2037 het 3233.06 208 1 109268441 . G A 3233.06 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.166;DP=208;Dels=0.00;FS=2.763;HRun=1;HaplotypeScore=11.9534;MQ=58.57;MQ0=0;MQRankSum=1.044;QD=15.54;ReadPosRankSum=0.674;VQSLOD=3.3741;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:87,121:208:99:3262,0,2187 1 109268573 109268573 T C exonic FNDC7 nonsynonymous SNV FNDC7:NM_001144937:exon6:c.T1058C:p.V353A 0.59 0.8 0.53 0.23 0.71 0.61 0.6521 0.7941 0.5341 0.2349 0.6808 0.7104 0.6476 0.6170 0.74 0.79 0.71 0.59 0.77 rs4494160 COSM3996722;COSM3996723;COSM3996721 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 1.000 0.210 P -3.005 0.000 N 2.24 0.179 T 3.07 0.001 N 0.104 0.594 -0.956 0.400 T 0.004 0.012 T . . . 1.527 0.246 13.46 0.507 0.044 0.158 0.189 N c -0.664 -0.304 0.999 0.384 0.554 0.246 0 6.05 0.981 5.688 0.677 0.069 0.176 1.000 0.715 0.999 0.750 15.621 0.764 Fibronectin type III ENSG00000116266.6 Cells_Transformed_fibroblasts 0.6444 0.7985 0.5373 0.6501 0.2322 0.6801 0.7185 0.6490 0.6180 0.7164 0.7946 0.5776 0.6457 0.2515 0.6898 0.7368 0.7108 hom 7106.15 206 1 109268573 . T C 7106.15 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.463;DP=206;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.4262;MQ=59.37;MQ0=0;MQRankSum=-1.160;QD=34.50;ReadPosRankSum=-0.404;VQSLOD=8.3924;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,205:206:99:7072,523,0 1 109273456 109273456 A G exonic FNDC7 synonymous SNV FNDC7:NM_001144937:exon9:c.A1785G:p.G595G 0.45 0.56 0.44 0.2 0.54 0.47 0.4934 0.5732 0.4565 0.2091 0.4980 0.5318 0.4835 0.4613 0.55 0.56 0.54 0.48 0.5 rs4970809 COSM4417133;COSM4417132;COSM4417134 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4898 0.5726 0.4540 0.4769 0.2069 0.4925 0.5405 0.5024 0.4620 0.5288 0.5747 0.4535 0.4833 0.2084 0.4880 0.5509 0.5357 het 2459.79 196 1 109273456 . A G 2459.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.150;DP=196;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.5686;MQ=59.79;MQ0=0;MQRankSum=-2.074;QD=12.55;ReadPosRankSum=-0.008;VQSLOD=5.0215;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,95:196:99:2490,0,2696 1 109363232 109363232 T C exonic AKNAD1 synonymous SNV AKNAD1:NM_152763:exon14:c.A2184G:p.K728K 0.39 0.26 0.39 0.7 0.26 0.36 0.3105 0.2858 0.4178 0.7001 0.2754 0.2378 0.3029 0.3544 0.25 0.28 0.23 0.33 0.12 rs1333130 COSM5653794 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3171 0.2861 0.4135 0.3196 0.7037 0.2789 0.2310 0.3112 0.3528 0.2779 0.2823 0.3890 0.2980 0.7021 0.2806 0.2214 0.2898 het 1168.98 104 1 109363232 . T C 1168.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.338;DP=104;Dels=0.00;FS=5.062;HRun=0;HaplotypeScore=1.9916;MQ=58.57;MQ0=0;MQRankSum=1.808;QD=11.24;ReadPosRankSum=0.923;VQSLOD=5.1393;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:53,51:104:99:1199,0,1325 1 109369915 109369915 G T exonic AKNAD1 nonsynonymous SNV AKNAD1:NM_152763:exon11:c.C1848A:p.N616K 0.5 0.63 0.53 0.26 0.58 0.48 0.5516 0.6308 0.4883 0.2709 0.4921 0.6021 0.5608 0.5112 0.61 0.64 0.6 0.58 0.46 rs7551421 COSM3747466;COSM146571;COSM4383049 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(liver);2(prostate);2(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.907 0.086 N 1 0.090 P 0 0.065 N 2.52 0.142 T -0.04 0.076 N 0.005 0.002 -0.973 0.365 T 0.002 0.006 T . . . -1.636 0.014 0.002 0.208 0.008 0.001 0.008 N c -2.157 -2.156 1.000 0.747 0.516 0.203 0 -7.42 0.012 -1.351 0.027 -1.461 0.011 0.000 0.063 0.077 0.179 2.307 0.039 . . . 0.5416 0.6298 0.4885 0.5279 0.2687 0.4934 0.6065 0.5335 0.5120 0.5803 0.6402 0.5290 0.5795 0.2536 0.5003 0.6040 0.5340 hom 5816.35 180 1 109369915 . G T 5816.35 Mask AC=2;AF=1.00;AN=2;DP=180;DS;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.5784;MQ=59.33;MQ0=0;QD=32.31;VQSLOD=9.2183;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,180:180:99:5816,454,0 1 109377070 109377070 C A exonic AKNAD1 nonsynonymous SNV AKNAD1:NM_152763:exon9:c.G1745T:p.G582V 0.13 0.21 0.095 0.12 0.11 0.09 0.1401 0.2170 0.1022 0.1391 0.1413 0.1407 0.1571 0.1107 0.14 0.19 0.11 0.15 0.11 rs12060255 . . . . . . . . . . . . . 0.075 0.371 T 0.396 0.377 B 0.1 0.299 B . . . 1.000 0.090 P 0.805 0.203 L 3.17 0.085 T -1.75 0.513 N 0.021 0.049 -0.958 0.395 T 0.008 0.029 T . . . 0.789 0.169 9.393 0.826 0.138 0.038 0.090 N c -0.826 -0.946 0.650 0.221 0.487 0.133 0 -0.038 0.131 1.155 0.311 0.636 0.291 0.021 0.196 0.064 0.173 2.583 0.045 . ENSG00000085433.11 Colon_Sigmoid 0.1101 0.1915 0.0830 0.1024 0.1189 0.1115 0.1120 0.1051 0.0919 0.1367 0.1904 0.0931 0.1026 0.1142 0.1194 0.1170 0.1061 het 114.45 19 1 109377070 . C A 114.45 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.798;DP=19;Dels=0.00;FS=2.017;HRun=0;HaplotypeScore=0.0000;MQ=58.68;MQ0=0;MQRankSum=1.623;QD=6.02;ReadPosRankSum=-0.307;VQSLOD=4.4859;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:13,6:19:99:144,0,377 1 109395105 109395105 C T exonic AKNAD1 nonsynonymous SNV AKNAD1:NM_152763:exon2:c.G182A:p.S61N 0.87 0.88 0.88 0.94 0.79 0.85 0.8324 0.8719 0.8600 0.9383 0.8233 0.8097 0.8095 0.8295 0.83 0.87 0.82 0.83 0.8 rs1277207 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.050 0.020 N 1 0.090 P -1.59 0.004 N 3.24 0.070 T 0.15 0.054 N 0.014 0.003 -0.948 0.414 T 0.002 0.006 T . . . -1.284 0.023 0.005 0.353 0.022 0.003 0.016 N c -1.849 -1.828 1.000 0.467 0.497 0.185 0 -4.24 0.035 -0.070 0.114 -0.819 0.031 0.000 0.063 0.000 0.016 6.609 0.218 . ENSG00000121940.11|ENSG00000121940.11|ENSG00000121957.8|ENSG00000085433.11|ENSG00000162641.14|ENSG00000203897.3 Artery_Aorta|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Testis|Testis 0.8336 0.8724 0.8539 0.8330 0.9378 0.8227 0.8105 0.8273 0.8270 0.8363 0.8698 0.8377 0.8377 0.9506 0.8088 0.8124 0.8108 het 2123.44 164 1 109395105 . C T 2123.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.886;DP=164;Dels=0.00;FS=0.590;HRun=1;HaplotypeScore=6.9197;MQ=58.44;MQ0=0;MQRankSum=1.057;QD=12.95;ReadPosRankSum=0.610;VQSLOD=4.9906;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:80,81:164:99:2153,0,2103 1 109440215 109440215 G A exonic GPSM2 nonsynonymous SNV GPSM2:NM_001321038:exon4:c.G380A:p.R127Q,GPSM2:NM_001321039:exon4:c.G380A:p.R127Q,GPSM2:NM_013296:exon4:c.G380A:p.R127Q 0.069 0.12 0.045 0.002 0.098 0.053 0.0865 0.0981 0.0356 0.0002 0.1107 0.1059 0.1093 0.0701 0.098 0.098 0.098 0.11 0.11 rs41279678 COSM3750209 1(pancreas);1(large_intestine) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000038784.4|RCV000398884.1 MedGen|MedGen CN169374|CN239439 . . . . . . 0.055 0.384 T 0.933 0.501 P 0.242 0.370 B 0.000 0.629 D 1e-37 0.810 P 1.06 0.271 L -3.35 0.940 D -3.91 0.736 D 0.255 0.416 0.103 0.842 D 0.586 0.852 D . . . 5.361 0.726 25.9 0.999 0.996 0.985 0.836 D c 0.178 0.236 1.000 0.747 0.706 0.609 0 5.01 0.663 8.159 0.895 1.048 0.713 1.000 0.715 0.998 0.697 16.513 0.841 Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain ENSG00000121957.8|ENSG00000121957.8|ENSG00000162641.14|ENSG00000203897.3 Esophagus_Mucosa|Lung|Testis|Testis 0.0838 0.0995 0.0429 0.1059 0.0002 0.1126 0.1025 0.0965 0.0697 0.0971 0.0920 0.0576 0.1093 0 0.1206 0.1068 0.1010 het 952.92 80 1 109440215 . G A 952.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.844;DP=80;Dels=0.00;FS=1.843;HRun=1;HaplotypeScore=3.5441;MQ=60.00;MQ0=0;MQRankSum=1.246;QD=11.91;ReadPosRankSum=-0.043;VQSLOD=5.5147;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:983,0,1000 1 109465166 109465168 CTT - exonic GPSM2 nonframeshift deletion GPSM2:NM_001321038:exon13:c.1568_1570del:p.S525del,GPSM2:NM_001321039:exon13:c.1568_1570del:p.S525del,GPSM2:NM_013296:exon13:c.1568_1570del:p.S525del . . . . . . 0.2907 0.5753 0.2234 0.0573 0.3070 0.2929 0.3172 0.2644 0.38 0.56 0.28 . . rs374875864 COSM5713033 1(large_intestine);2(central_nervous_system) Benign|Likely benign not_specified|Nonsyndromic_Hearing_Loss\x2c_Recessive RCV000218159.2|RCV000270361.1 MedGen|MedGen CN169374|CN239439 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2829 0.5772 0.2294 0.3494 0.0576 0.3049 0.2870 0.2907 0.2673 0.3574 0.5663 0.2584 0.3267 0.0448 0.3131 0.2903 0.2982 het 3943.36 179 1 109465165 . ACTT A 3943.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.349;DP=179;FS=0.000;HRun=0;HaplotypeScore=716.4651;MQ=57.31;MQ0=0;MQRankSum=0.992;QD=22.03;ReadPosRankSum=0.805;set=variant2 GT:AD:DP:GQ:PL 0/1:87,92:179:99:3943,0,4274 1 109479978 109479978 G T exonic CLCC1 nonsynonymous SNV CLCC1:NM_001278203:exon5:c.C549A:p.S183R,CLCC1:NM_001278202:exon7:c.C741A:p.S247R,CLCC1:NM_001048210:exon10:c.C1104A:p.S368R,CLCC1:NM_015127:exon10:c.C954A:p.S318R 0.31 0.62 0.21 0.038 0.28 0.25 0.2782 0.5754 0.2190 0.0372 0.2875 0.2772 0.3013 0.2594 0.37 0.56 0.27 0.29 0.3 rs168107 COSM3750211;COSM3750210 1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.001 0.102 B 0.001 0.063 B 0.001 0.434 N 0.998 0.224 P -2.15 0.001 N 0.99 0.418 T 2.03 0.004 N 0.037 0.017 -0.937 0.431 T 0.006 0.021 T . . . -0.320 0.067 0.598 0.581 0.058 0.032 0.081 N c -1.408 -1.223 0.002 0.093 0.707 0.730 0 1.71 0.233 0.426 0.209 0.152 0.238 0.529 0.269 0.553 0.280 8.446 0.318 . ENSG00000121940.11|ENSG00000121940.11|ENSG00000121957.8|ENSG00000085433.11|ENSG00000162641.14 Artery_Tibial|Cells_Transformed_fibroblasts|Lung|Nerve_Tibial|Testis 0.2697 0.5736 0.2245 0.3647 0.0367 0.2849 0.2685 0.2788 0.2608 0.3480 0.5665 0.2530 0.3433 0.0216 0.2942 0.2780 0.2914 het 1091.91 82 1 109479978 . G T 1091.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.423;DP=82;Dels=0.00;FS=9.882;HRun=0;HaplotypeScore=3.5151;MQ=58.95;MQ0=0;MQRankSum=-0.166;QD=13.32;ReadPosRankSum=-0.547;VQSLOD=4.7503;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:37,45:82:99:1122,0,898 1 109486196 109486196 A G exonic CLCC1 synonymous SNV CLCC1:NM_001048210:exon6:c.T603C:p.T201T,CLCC1:NM_015127:exon6:c.T453C:p.T151T 0.54 0.76 0.51 0.4 0.52 0.43 0.5287 0.7259 0.5585 0.4057 0.4854 0.5305 0.5430 0.4572 0.59 0.73 0.53 0.53 0.54 rs338466 COSM3747467;COSM3747468;COSM3747469 1(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5258 0.7271 0.5616 0.5655 0.4097 0.4831 0.5281 0.5336 0.4602 0.5760 0.7238 0.5803 0.5795 0.3975 0.4871 0.5339 0.5143 het 1854.61 154 1 109486196 . A G 1854.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.589;DP=154;Dels=0.00;FS=0.599;HRun=1;HaplotypeScore=5.8565;MQ=59.90;MQ0=0;MQRankSum=0.224;QD=12.04;ReadPosRankSum=-0.885;VQSLOD=4.7307;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:75,78:154:99:1885,0,1934 1 109656946 109656946 T C exonic KIAA1324 synonymous SNV KIAA1324:NM_001267048:exon1:c.T141C:p.H47H,KIAA1324:NM_020775:exon1:c.T141C:p.H47H 0.54 0.75 0.48 0.48 0.37 0.51 0.5048 0.7197 0.5827 0.5309 0.5029 0.4440 0.452 0.5167 0.47 0.67 0.36 0.53 0.16 rs667524 COSM3750212 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4284 0.7039 0.4938 0.4129 0.4753 0.3957 0.3584 0.4055 0.4765 0.4672 0.6905 0.4796 0.4338 0.4907 0.3771 0.3606 0.3953 het 132.24 24 1 109656946 . T C 132.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.699;DP=24;Dels=0.00;FS=2.035;HRun=0;HaplotypeScore=1.4972;MQ=59.03;MQ0=0;MQRankSum=0.889;QD=5.51;ReadPosRankSum=1.207;VQSLOD=4.2484;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:17,7:24:99:162,0,447 1 109704618 109704618 A G exonic KIAA1324 nonsynonymous SNV KIAA1324:NM_001267048:exon2:c.A256G:p.I86V,KIAA1324:NM_020775:exon2:c.A256G:p.I86V 1. 0.98 1. 1. 1. 1. 0.9987 0.9868 0.9995 0.9986 1 1.0000 1 1 1. 0.99 1. 1. 1. rs678238 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.843 N 0.991 0.258 P -1.53 0.005 N 1.24 0.411 T 0.79 0.023 N 0.14 0.270 -0.992 0.322 T 0.009 0.032 T . . . 1.286 0.219 12.20 0.843 0.147 0.202 0.208 N c -0.754 -0.421 1.000 0.747 0.616 0.391 0 5.55 0.832 3.325 0.515 0.138 0.222 1.000 0.715 0.970 0.461 11.459 0.493 . . . 0.9989 0.9859 0.9994 1 0.9985 1 1.0000 0.9989 1.0000 0.9959 0.9859 1 1 0.9981 1 1 0.9990 hom 2815.16 84 1 109704618 . A G 2815.16 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9661;MQ=59.73;MQ0=0;QD=33.51;VQSLOD=9.8089;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2848,232,0 1 109735298 109735298 T C exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon7:c.T735C:p.G245G,KIAA1324:NM_001267048:exon12:c.T1488C:p.G496G,KIAA1324:NM_001284352:exon13:c.T1443C:p.G481G,KIAA1324:NM_020775:exon14:c.T1749C:p.G583G 0.74 0.36 0.81 1. 0.76 0.93 0.7832 0.4133 0.8772 0.9992 0.8412 0.7595 0.8007 0.9089 0.64 0.41 0.75 0.69 0.73 rs658779 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7896 0.4080 0.8542 0.7038 0.9991 0.8372 0.7569 0.7748 0.9053 0.6880 0.4150 0.8165 0.7185 0.9981 0.8290 0.7664 0.7684 hom 7754.43 250 1 109735298 . T C 7754.43 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.90;MQ0=0;QD=31.02;VQSLOD=9.3960;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:7753,647,0 1 109735416 109735416 A C exonic KIAA1324 nonsynonymous SNV KIAA1324:NM_001284353:exon7:c.A853C:p.T285P,KIAA1324:NM_001267048:exon12:c.A1606C:p.T536P,KIAA1324:NM_001284352:exon13:c.A1561C:p.T521P,KIAA1324:NM_020775:exon14:c.A1867C:p.T623P 0.74 0.36 0.81 1. 0.76 0.93 0.7829 0.4139 0.8775 0.9975 0.8412 0.7595 0.8002 0.9060 0.64 0.41 0.75 0.7 0.72 rs659543 COSM4142096 1(thyroid) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.368 0.136 N 1 0.090 P -1.865 0.003 N 0.05 0.619 T 3.25 0.001 N 0.025 0.475 -0.993 0.318 T 0.009 0.034 T . . . -2.411 0.004 0.001 0.060 0.000 0.009 0.034 N c -1.949 -1.902 1.000 0.747 0.534 0.214 0 -7.86 0.010 -1.509 0.024 -3.568 0.001 0.000 0.063 0.006 0.095 1.863 0.030 Growth factor receptor cysteine-rich domain . . 0.7893 0.4082 0.8542 0.7040 0.9973 0.8371 0.7569 0.7745 0.9026 0.6880 0.4151 0.8174 0.7233 0.9981 0.8286 0.7662 0.7720 hom 7651.56 230 1 109735416 . A C 7651.56 Mask AC=2;AF=1.00;AN=2;DP=230;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=5.4181;MQ=60.37;MQ0=0;QD=33.27;VQSLOD=6.8496;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,230:230:99:7651,602,0 1 109737063 109737063 C T exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.C954T:p.N318N,KIAA1324:NM_001267048:exon13:c.C1707T:p.N569N,KIAA1324:NM_001284352:exon14:c.C1662T:p.N554N,KIAA1324:NM_020775:exon15:c.C1968T:p.N656N 0.71 0.3 0.8 0.97 0.76 0.89 0.7772 0.3678 0.8761 0.9731 0.8456 0.7673 0.7963 0.8747 0.63 0.37 0.76 0.67 0.75 rs2359246 COSM5618807 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7850 0.3642 0.8534 0.7075 0.9704 0.8413 0.7658 0.7730 0.8721 0.6790 0.3742 0.8146 0.7267 0.9710 0.8329 0.7748 0.7653 hom 3415.32 110 1 109737063 . C T 3415.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.637;DP=110;Dels=0.00;FS=4.125;HRun=0;HaplotypeScore=3.9602;MQ=59.37;MQ0=0;MQRankSum=1.637;QD=31.05;ReadPosRankSum=1.541;VQSLOD=4.3044;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,108:110:99:3366,244,0 1 109737090 109737090 G A exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.G981A:p.P327P,KIAA1324:NM_001267048:exon13:c.G1734A:p.P578P,KIAA1324:NM_001284352:exon14:c.G1689A:p.P563P,KIAA1324:NM_020775:exon15:c.G1995A:p.P665P 0.72 0.31 0.8 0.97 0.76 0.89 0.7772 0.3691 0.8757 0.9728 0.8456 0.7673 0.7936 0.8742 0.63 0.37 0.76 0.67 0.75 rs2359245 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7849 0.3645 0.8530 0.7073 0.9703 0.8411 0.7657 0.7728 0.8717 0.6798 0.3761 0.8177 0.7282 0.9710 0.8329 0.7749 0.7663 hom 4476.54 140 1 109737090 . G A 4476.54 Mask AC=2;AF=1.00;AN=2;DP=140;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.3036;MQ=59.50;MQ0=0;QD=31.98;VQSLOD=9.4637;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,140:140:99:4476,346,0 1 109737132 109737132 T C exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.T1023C:p.T341T,KIAA1324:NM_001267048:exon13:c.T1776C:p.T592T,KIAA1324:NM_001284352:exon14:c.T1731C:p.T577T,KIAA1324:NM_020775:exon15:c.T2037C:p.T679T 0.77 0.47 0.81 0.97 0.77 0.93 0.7948 0.4916 0.8828 0.9731 0.8456 0.7693 0.8024 0.9129 0.67 0.49 0.76 0.74 0.75 rs2359244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7996 0.4875 0.8610 0.7172 0.9706 0.8411 0.7672 0.7830 0.9092 0.7149 0.4956 0.8278 0.7333 0.9723 0.8329 0.7761 0.7802 hom 4776.22 153 1 109737132 . T C 4776.22 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-0.228;DP=153;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.7537;MQ=59.30;MQ0=0;MQRankSum=0.820;QD=31.22;ReadPosRankSum=1.436;VQSLOD=8.3197;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,152:153:99:4738,348,0 1 109737172 109737172 C T exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon8:c.C1063T:p.L355L,KIAA1324:NM_001267048:exon13:c.C1816T:p.L606L,KIAA1324:NM_001284352:exon14:c.C1771T:p.L591L,KIAA1324:NM_020775:exon15:c.C2077T:p.L693L 0.71 0.3 0.8 0.97 0.76 0.89 0.7772 0.3680 0.8762 0.9731 0.8456 0.7673 0.7941 0.8745 0.63 0.37 0.76 0.69 0.74 rs2359243 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7850 0.3644 0.8532 0.7073 0.9703 0.8411 0.7657 0.7730 0.8718 0.6792 0.3745 0.8138 0.72 0.9716 0.8329 0.7748 0.7679 hom 4795.06 157 1 109737172 . C T 4795.06 Mask AC=2;AF=1.00;AN=2;DP=157;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9665;MQ=59.34;MQ0=0;QD=30.54;VQSLOD=9.1618;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,156:157:99:4759,373,0 1 109742485 109742485 G A exonic KIAA1324 synonymous SNV KIAA1324:NM_001284353:exon12:c.G1497A:p.S499S,KIAA1324:NM_001267048:exon17:c.G2250A:p.S750S,KIAA1324:NM_001284352:exon18:c.G2205A:p.S735S,KIAA1324:NM_020775:exon19:c.G2511A:p.S837S 0.76 0.47 0.81 0.96 0.79 0.88 0.8024 0.5159 0.8632 0.9676 0.8542 0.7935 0.8062 0.8684 0.7 0.52 0.79 0.78 0.75 rs913179 COSM3748989 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8061 0.5123 0.8508 0.6770 0.9687 0.8499 0.7950 0.7870 0.8664 0.7340 0.5168 0.7995 0.7086 0.9802 0.8434 0.8007 0.7982 hom 4209.28 134 1 109742485 . G A 4209.28 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.3123;MQ=59.54;MQ0=0;QD=31.41;VQSLOD=9.5707;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,134:134:99:4209,319,0 1 109745618 109745618 T C exonic KIAA1324 nonsynonymous SNV KIAA1324:NM_001284353:exon15:c.T2012C:p.L671P,KIAA1324:NM_001267048:exon20:c.T2765C:p.L922P,KIAA1324:NM_020775:exon22:c.T3026C:p.L1009P 0.89 0.78 0.9 0.96 0.9 0.95 0.9056 0.7663 0.9278 0.9682 0.9406 0.8994 0.9031 0.9565 0.85 0.76 0.9 0.92 0.87 rs1052878 COSM4142097 1(thyroid) . . . . . . . . . . . 0.317 0.137 T 0.0 0.026 B 0.0 0.013 B 0.044 0.237 N 0.557 0.313 P -0.69 0.019 N 2.72 0.120 T 1.72 0.006 N 0.03 0.146 -0.965 0.382 T 0.006 0.022 T . . . 2.870 0.406 21.7 0.896 0.184 0.075 0.134 N c -0.573 -0.384 1.000 0.410 0.615 0.372 0 4.26 0.497 1.126 0.307 0.067 0.174 0.778 0.292 0.995 0.604 5.679 0.169 . ENSG00000143126.7 Testis 0.9071 0.7611 0.9216 0.8272 0.9694 0.9375 0.9015 0.8974 0.9548 0.8663 0.7524 0.8906 0.8411 0.9815 0.9322 0.9021 0.8929 hom 5133.54 160 1 109745618 . T C 5133.54 Mask AC=2;AF=1.00;AN=2;DP=160;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=9.6282;MQ=59.51;MQ0=0;QD=32.08;VQSLOD=3.5578;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,160:160:99:5133,391,0 1 109792735 109792735 - CGC exonic CELSR2 nonframeshift insertion CELSR2:NM_001408:exon1:c.34_35insCGC:p.P16_L17insP 0.57 0.42 0.63 0.53 0.73 0.6 0.6876 0.5382 0.6627 0.5845 0.7088 0.7277 0.7437 0.6592 0.62 0.49 0.69 . . rs59201433 COSM4603476 2(stomach);13(upper_aerodigestive_tract);6(large_intestine);1(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6380 0.4524 0.6096 0.7169 0.5004 0.6521 0.6899 0.6754 0.6071 0.6269 0.4917 0.6716 0.7770 0.5069 0.6779 0.7002 0.6593 het 353.62 12 1 109792735 . A ACGC 353.62 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.377;DP=12;FS=0.000;HRun=0;HaplotypeScore=37.4663;MQ=59.78;MQ0=0;MQRankSum=0.382;QD=29.47;ReadPosRankSum=-0.978;set=variant2 GT:AD:DP:GQ:PL 0/1:6,6:12:98.72:393,0,99 1 109794252 109794252 T C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon1:c.T1551C:p.S517S 0.9 0.72 0.96 1. 0.97 0.94 0.9466 0.7578 0.9768 0.9993 0.9527 0.9632 0.9702 0.9458 0.9 0.78 0.96 0.86 0.98 rs454107 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9498 0.7512 0.9717 0.9312 0.9995 0.9521 0.9644 0.9579 0.9468 0.9072 0.7618 0.9653 0.9371 0.9988 0.9473 0.9661 0.9470 hom 6170.03 202 1 109794252 . T C 6170.03 Mask AC=2;AF=1.00;AN=2;DP=202;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.5149;MQ=59.42;MQ0=0;QD=30.54;VQSLOD=9.0516;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,201:202:99:6169,520,0 1 109795026 109795026 T C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon1:c.T2325C:p.Y775Y 0.9 0.72 0.96 1. 0.97 0.94 0.9466 0.7578 0.9764 0.9993 0.9527 0.9631 0.9701 0.9462 0.9 0.78 0.96 0.86 0.98 rs413380 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9498 0.7508 0.9716 0.9312 0.9996 0.9523 0.9643 0.9577 0.9471 0.9073 0.7622 0.9642 0.9371 0.9988 0.9470 0.9660 0.9470 hom 3068.91 95 1 109795026 . T C 3068.91 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.36;MQ0=0;QD=32.30;VQSLOD=9.9544;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3102,253,0 1 109795608 109795608 T C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon1:c.T2907C:p.F969F 0.91 0.76 0.97 1. 0.97 0.94 0.9505 0.8014 0.9779 0.9993 0.9527 0.9632 0.9690 0.9468 0.91 0.82 0.96 0.87 0.9 rs437444 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9527 0.7955 0.9725 0.9313 0.9996 0.9520 0.9644 0.9582 0.9473 0.9199 0.8060 0.9678 0.9371 0.9988 0.9475 0.9660 0.9511 hom 6649.44 203 1 109795608 . T C 6649.44 Mask AC=2;AF=1.00;AN=2;DP=203;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.7362;MQ=59.22;MQ0=0;QD=32.76;VQSLOD=7.8816;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,203:203:99:6649,518,0 1 109806834 109806834 C T exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon10:c.C5136T:p.P1712P 0.35 0.076 0.47 0.5 0.48 0.37 0.4312 0.1271 0.5141 0.4711 0.4371 0.4645 0.4787 0.3983 0.35 0.13 0.47 0.36 0.43 rs6698843 COSM3750214 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4377 0.1180 0.4984 0.5001 0.4686 0.4426 0.4612 0.4645 0.3986 0.3569 0.1272 0.4952 0.4636 0.4603 0.4289 0.4495 0.4078 het 1092.12 80 1 109806834 . C T 1092.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.739;DP=80;Dels=0.00;FS=18.228;HRun=0;HaplotypeScore=3.4306;MQ=58.77;MQ0=0;MQRankSum=0.382;QD=13.65;ReadPosRankSum=1.596;VQSLOD=2.7490;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:40,40:80:99:1122,0,1025 1 109807099 109807099 G A exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon11:c.G5313A:p.P1771P 0.35 0.076 0.47 0.5 0.48 0.37 0.4286 0.1235 0.5120 0.4701 0.4360 0.4625 0.4736 0.3978 0.35 0.13 0.47 0.36 0.55 rs6689614 COSM1178398 1(liver);1(prostate);2(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4365 0.1172 0.4972 0.4998 0.4682 0.4398 0.4602 0.4634 0.3981 0.3565 0.1270 0.4928 0.4633 0.4628 0.4287 0.4491 0.4062 het 3006.78 198 1 109807099 . G A 3006.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.791;DP=198;Dels=0.00;FS=3.046;HRun=0;HaplotypeScore=9.6130;MQ=58.79;MQ0=0;MQRankSum=-2.263;QD=15.19;ReadPosRankSum=0.279;VQSLOD=2.7849;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:90,108:198:99:3037,0,2342 1 109810183 109810183 C T exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon16:c.C6027T:p.R2009R 0.035 0.0023 0.045 0.001 0.081 0.061 0.0493 0.0092 0.0278 0.0003 0.0893 0.0580 0.0640 0.0631 0.04 0.012 0.054 . 0.082 rs61761209 COSM3747472 1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0491 0.0081 0.0282 0.0757 0.0003 0.0810 0.0558 0.0551 0.0623 0.0420 0.0124 0.0358 0.0662 0 0.0753 0.0552 0.0511 het 1471.43 131 1 109810183 . C T 1471.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.686;DP=131;Dels=0.00;FS=1.417;HRun=0;HaplotypeScore=7.4296;MQ=58.90;MQ0=0;MQRankSum=-0.936;QD=11.23;ReadPosRankSum=0.259;VQSLOD=3.7424;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:70,60:131:99:1501,0,1687 1 109810544 109810544 C A exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon17:c.C6180A:p.R2060R 0.23 0.054 0.22 0.42 0.19 0.3 0.2156 0.0711 0.2016 0.4352 0.2478 0.1941 0.2018 0.2700 0.15 0.071 0.19 0.16 0.11 rs2281894 COSM3750215 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2155 0.0661 0.1997 0.1742 0.4390 0.2343 0.1915 0.2009 0.2708 0.1867 0.0757 0.1878 0.1689 0.4474 0.2363 0.2089 0.2327 het 751.49 69 1 109810544 . C A 751.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.299;DP=69;Dels=0.00;FS=1.973;HRun=2;HaplotypeScore=0.0000;MQ=59.12;MQ0=0;MQRankSum=1.791;QD=10.89;ReadPosRankSum=-0.380;VQSLOD=5.8289;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:38,31:69:99:781,0,1106 1 109816176 109816176 A C exonic CELSR2 synonymous SNV CELSR2:NM_001408:exon33:c.A8628C:p.G2876G 0.97 0.89 0.99 1. 1. 1. 0.9935 0.9165 0.9967 1 1 0.9998 0.9956 0.9996 0.98 0.93 1. 0.94 0.31 rs441853 COSM4142101 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9945 0.9104 0.9965 1 1 0.9999 0.9997 0.9974 0.9998 0.9761 0.9168 0.9940 1 1 1 0.9999 0.9928 hom 301.46 13 1 109816176 . A C 301.46 Mask AC=2;AF=1.00;AN=2;DP=13;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.20;MQ0=0;QD=23.19;VQSLOD=7.1270;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,13:13:33.03:334,33,0 1 109824250 109824250 G A exonic PSRC1 synonymous SNV PSRC1:NM_001350237:exon3:c.C510T:p.N170N,PSRC1:NM_001005290:exon4:c.C510T:p.N170N,PSRC1:NM_001032291:exon4:c.C510T:p.N170N,PSRC1:NM_001350238:exon4:c.C510T:p.N170N,PSRC1:NM_001350239:exon4:c.C510T:p.N170N,PSRC1:NM_001350240:exon4:c.C510T:p.N170N,PSRC1:NM_001350241:exon4:c.C510T:p.N170N,PSRC1:NM_001350242:exon4:c.C510T:p.N170N,PSRC1:NM_032636:exon4:c.C510T:p.N170N 0.043 0.017 0.03 0.031 0.084 0.057 0.0684 0.0247 0.0203 0.0366 0.1332 0.0847 0.0719 0.0535 0.058 0.026 0.074 0.033 0.025 rs35358959 COSM3996729;COSM3996730 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0639 0.0224 0.0205 0.0299 0.0383 0.1217 0.0829 0.0640 0.0466 0.0727 0.0246 0.0227 0.0298 0.0358 0.1234 0.0946 0.1037 het 2303.04 180 1 109824250 . G A 2303.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.785;DP=180;Dels=0.00;FS=2.676;HRun=0;HaplotypeScore=5.0480;MQ=59.20;MQ0=0;MQRankSum=-0.366;QD=12.79;ReadPosRankSum=-1.817;VQSLOD=4.5297;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:83,97:180:99:2333,0,2193 1 109838918 109838918 C T exonic MYBPHL nonsynonymous SNV MYBPHL:NM_001010985:exon6:c.G805A:p.D269N,MYBPHL:NM_001265613:exon6:c.G736A:p.D246N 0.87 0.66 0.95 1. 0.93 0.94 0.9219 0.6974 0.9609 0.9999 0.9624 0.9295 0.9427 0.9474 0.86 0.71 0.93 0.88 0.92 rs629001 . . . . . . . . . . . . . 0.643 0.049 T 0.01 0.144 B 0.012 0.149 B . . . 0.008 0.415 P 1.075 0.273 L -0.81 0.740 T -1.76 0.416 N 0.019 0.013 -1.093 0.051 T 0.102 0.377 T . . . 3.437 0.471 23.0 0.960 0.279 0.909 0.521 D c -0.320 -0.146 1.000 0.747 0.534 0.214 0 3.27 0.364 2.958 0.486 0.935 0.490 0.992 0.373 0.999 0.750 8.025 0.294 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold ENSG00000143028.7|ENSG00000143028.7|ENSG00000143028.7|ENSG00000143028.7 Artery_Aorta|Artery_Tibial|Heart_Atrial_Appendage|Thyroid 0.9289 0.6932 0.9592 0.9340 0.9996 0.9597 0.9292 0.9305 0.9478 0.8765 0.7097 0.9511 0.9205 1 0.9544 0.9334 0.9276 hom 4258.19 142 1 109838918 . C T 4258.19 Mask AC=2;AF=1.00;AN=2;DP=142;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.6651;MQ=58.57;MQ0=0;QD=29.99;VQSLOD=8.7441;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,142:142:99:4258,325,0 1 109839433 109839433 A G exonic MYBPHL synonymous SNV MYBPHL:NM_001010985:exon5:c.T702C:p.T234T,MYBPHL:NM_001265613:exon5:c.T633C:p.T211T 0.93 0.73 0.97 1. 1. 1. 0.9780 0.7617 0.9908 1 1 0.9989 0.9901 0.9996 0.92 0.78 1. 0.94 1. rs1278285 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9827 0.7582 0.9899 0.9965 1 1 0.9990 0.9887 0.9997 0.9365 0.7800 0.9857 1 1 1 0.9985 0.9868 hom 4054.79 127 1 109839433 . A G 4054.79 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9159;MQ=59.49;MQ0=0;QD=31.93;VQSLOD=9.6456;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4055,307,0 1 109884775 109884775 T G exonic SORT1 synonymous SNV SORT1:NM_001205228:exon9:c.A558C:p.T186T,SORT1:NM_002959:exon9:c.A969C:p.T323T 0.69 0.36 0.83 0.96 0.71 0.72 0.7290 0.4120 0.8822 0.9611 0.7064 0.7244 0.7759 0.7241 0.62 0.42 0.73 0.64 0.79 rs2228604 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7416 0.4017 0.8680 0.8372 0.9564 0.7127 0.7164 0.7646 0.7300 0.6346 0.4096 0.8421 0.7980 0.9494 0.6956 0.6976 0.7 het 1106.66 64 1 109884775 . T G 1106.66 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.267;DP=64;Dels=0.00;FS=6.341;HRun=1;HaplotypeScore=1.9782;MQ=60.00;MQ0=0;MQRankSum=-0.159;QD=17.29;ReadPosRankSum=-0.908;VQSLOD=4.8250;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,40:64:99:1137,0,696 1 109897100 109897100 T C exonic SORT1 synonymous SNV SORT1:NM_001205228:exon5:c.A189G:p.R63R,SORT1:NM_002959:exon5:c.A597G:p.R199R 0.034 0.033 0.014 0.002 0.054 0.064 0.0510 0.0458 0.0124 0.0015 0.0786 0.0596 0.0441 0.0621 0.052 0.047 0.055 0.065 0.025 rs72646560 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0475 0.0443 0.0137 0.0152 0.0014 0.0719 0.0609 0.0403 0.0567 0.0600 0.0476 0.0167 0.0132 0.0031 0.0738 0.0716 0.0867 het 2256.79 162 1 109897100 . T C 2256.79 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.350;DP=162;Dels=0.00;FS=0.583;HRun=1;HaplotypeScore=1.8924;MQ=59.07;MQ0=0;MQRankSum=-0.844;QD=13.93;ReadPosRankSum=-0.171;VQSLOD=5.6366;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:79,83:162:99:2287,0,1969 1 109897103 109897103 A G exonic SORT1 synonymous SNV SORT1:NM_001205228:exon5:c.T186C:p.F62F,SORT1:NM_002959:exon5:c.T594C:p.F198F 0.78 0.69 0.85 0.96 0.71 0.72 0.7532 0.6799 0.8919 0.9612 0.7055 0.7251 0.7863 0.7243 0.71 0.67 0.73 0.75 0.8 rs11142 COSM1332444 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7615 0.6796 0.8801 0.8430 0.9565 0.7124 0.7174 0.7750 0.7304 0.7117 0.6789 0.8568 0.8046 0.9494 0.6950 0.6987 0.7147 het 2045.09 167 1 109897103 . A G 2045.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.379;DP=167;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.10;MQ0=0;MQRankSum=0.168;QD=12.25;ReadPosRankSum=0.669;VQSLOD=6.8444;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:88,79:167:99:2075,0,2303 1 110019439 110019439 A G exonic SYPL2 nonsynonymous SNV SYPL2:NM_001040709:exon4:c.A296G:p.E99G 0.03 0.014 0.016 0.002 0.055 0.065 0.0515 0.0272 0.0120 0.0015 0.0801 0.0629 0.0448 0.0625 0.047 0.027 0.057 0.054 0.025 rs62623713 . . . . . . . . . . . . . 0.575 0.061 T 0.005 0.119 B 0.011 0.145 B 0.677 0.061 N 1 0.090 N -0.345 0.033 N 1.45 0.325 T 1.26 0.010 N 0.043 0.028 -0.953 0.405 T 0.011 0.042 T . . . 0.424 0.135 6.823 0.951 0.257 0.112 0.163 N c -0.992 -0.892 0.989 0.315 0.657 0.484 0 3.32 0.370 0.857 0.273 1.199 0.960 0.008 0.178 0.615 0.291 7.140 0.246 Marvel domain ENSG00000162650.11 Artery_Tibial 0.0479 0.0268 0.0131 0.0180 0.0014 0.0727 0.0640 0.0416 0.0569 0.0552 0.0268 0.0167 0.0166 0.0031 0.0739 0.0741 0.0845 het 1061.44 85 1 110019439 . A G 1061.44 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.343;DP=85;Dels=0.00;FS=4.378;HRun=1;HaplotypeScore=2.2329;MQ=59.67;MQ0=0;MQRankSum=0.369;QD=12.49;ReadPosRankSum=-0.784;VQSLOD=5.8358;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:47,38:85:99:1091,0,1264 1 110086451 110086451 G A exonic GPR61 synonymous SNV GPR61:NM_031936:exon2:c.G807A:p.S269S 0.22 0.11 0.14 0.36 0.17 0.3 0.2084 0.1209 0.1829 0.3577 0.2002 0.1908 0.2146 0.2747 0.17 0.12 0.2 0.2 0.21 rs17575798 COSM3996733 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2071 0.1157 0.1784 0.2336 0.3505 0.1999 0.1871 0.1925 0.2752 0.1816 0.1156 0.1981 0.2550 0.3395 0.2018 0.1944 0.2049 het 1195.36 81 1 110086451 . G A 1195.36 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.544;DP=81;Dels=0.00;FS=0.887;HRun=0;HaplotypeScore=2.7603;MQ=58.71;MQ0=0;MQRankSum=-0.165;QD=14.76;ReadPosRankSum=-0.535;VQSLOD=5.8400;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:41,40:81:99:1225,0,953 1 110170896 110170896 T C exonic AMPD2 synonymous SNV AMPD2:NM_203404:exon8:c.T1077C:p.H359H,AMPD2:NM_001308170:exon9:c.T1209C:p.H403H,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 0.81 0.73 0.77 0.98 0.68 0.89 0.7353 0.7542 0.7925 0.9820 0.7213 0.6604 0.7671 0.8604 0.68 0.76 0.65 0.8 0.68 rs863978 COSM4142109;COSM4142108 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7358 0.7600 0.7872 0.6883 0.9809 0.7196 0.6527 0.7284 0.8587 0.7062 0.7566 0.7734 0.6755 0.9815 0.7034 0.6432 0.7290 het 827.39 68 1 110170896 . T C 827.39 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.677;DP=68;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9142;MQ=59.11;MQ0=0;MQRankSum=1.428;QD=12.17;ReadPosRankSum=0.296;VQSLOD=6.5198;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,31:68:99:857,0,1091 1 110295772 110295772 T C exonic EPS8L3 synonymous SNV EPS8L3:NM_001319952:exon12:c.A1068G:p.S356S,EPS8L3:NM_024526:exon13:c.A1167G:p.S389S,EPS8L3:NM_133181:exon13:c.A1167G:p.S389S,EPS8L3:NM_139053:exon13:c.A1170G:p.S390S 0.77 0.91 0.68 0.86 0.58 0.74 0.6614 0.8779 0.6693 0.8389 0.5654 0.5986 0.5982 0.7224 0.69 0.87 0.6 0.73 0.61 rs1887547 COSM3750218 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6537 0.8817 0.6707 0.5677 0.8393 0.5640 0.5983 0.6040 0.7199 0.6987 0.8800 0.6271 0.5563 0.8435 0.5673 0.6181 0.6541 hom 2690.14 96 1 110295772 . T C 2690.14 Mask AC=2;AF=1.00;AN=2;DP=96;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.0316;MQ=58.73;MQ0=0;QD=28.02;VQSLOD=7.9862;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:96:99:2723,211,0 1 110300441 110300441 G A exonic EPS8L3 nonsynonymous SNV EPS8L3:NM_001319952:exon9:c.C778T:p.H260Y,EPS8L3:NM_024526:exon10:c.C877T:p.H293Y,EPS8L3:NM_133181:exon10:c.C877T:p.H293Y,EPS8L3:NM_139053:exon10:c.C880T:p.H294Y 0.47 0.16 0.44 0.79 0.47 0.6 0.4843 0.2158 0.4225 0.7775 0.4062 0.4853 0.4591 0.5720 0.4 0.23 0.49 0.35 0.41 rs3818562 COSM3747492 1(liver);1(large_intestine) . . . . . . . . . . . 1.0 0.031 T 0.0 0.026 B 0.0 0.013 B 0.002 0.364 N 1 0.090 P -1.21 0.008 N 2.76 0.571 T 1.5 0.010 N 0.029 0.147 -0.962 0.387 T 0.012 0.046 T . . . 0.533 0.145 7.679 0.797 0.124 0.024 0.068 N c -0.976 -0.695 0.861 0.252 0.428 0.059 0 2.69 0.308 1.322 0.331 0.244 0.267 1.000 0.715 0.998 0.697 8.934 0.347 . ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000134202.6|ENSG00000134202.6 Artery_Tibial|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Muscle_Skeletal|Pancreas|Thyroid|Whole_Blood 0.4850 0.2121 0.4271 0.4956 0.7748 0.4026 0.4871 0.4619 0.5745 0.4224 0.2206 0.3950 0.4967 0.7763 0.4110 0.5012 0.4723 hom 4340.92 149 1 110300441 . G A 4340.92 Mask AC=2;AF=1.00;AN=2;DP=149;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.38;MQ0=0;QD=29.13;VQSLOD=8.7277;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,149:149:99:4340,346,0 1 110301260 110301260 C T exonic EPS8L3 nonsynonymous SNV EPS8L3:NM_001319952:exon6:c.G388A:p.G130S,EPS8L3:NM_024526:exon7:c.G487A:p.G163S,EPS8L3:NM_133181:exon7:c.G487A:p.G163S,EPS8L3:NM_139053:exon7:c.G490A:p.G164S 0.32 0.72 0.22 0.056 0.19 0.23 0.2489 0.6380 0.2225 0.0447 0.2029 0.2200 0.2138 0.2662 0.35 0.61 0.22 0.35 0.22 rs6693815 . . . . . . . . . . . . . 0.563 0.111 T 0.003 0.154 B 0.001 0.093 B 0.085 0.024 N 1 0.090 P 1.175 0.300 L 2.6 0.596 T -0.49 0.156 N 0.043 0.039 -1.078 0.077 T 0.018 0.076 T . . . 0.756 0.166 9.190 0.897 0.185 0.014 0.047 N c -1.251 -1.198 0.833 0.247 0.428 0.059 0 -2.18 0.066 -1.568 0.022 -0.032 0.126 0.000 0.063 0.084 0.183 1.328 0.020 . ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6|ENSG00000241720.2|ENSG00000241720.2|ENSG00000134202.6|ENSG00000134202.6 Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Stomach|Thyroid|Thyroid|Whole_Blood 0.2391 0.6429 0.2349 0.2158 0.0443 0.2051 0.2209 0.2178 0.2461 0.3303 0.6426 0.2488 0.1755 0.0377 0.2065 0.2212 0.2607 hom 3410.43 108 1 110301260 . C T 3410.43 Mask AC=2;AF=1.00;AN=2;DP=108;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5275;MQ=59.05;MQ0=0;QD=31.58;VQSLOD=9.0382;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,108:108:99:3410,268,0 1 110466338 110466338 C A exonic CSF1 synonymous SNV CSF1:NM_000757:exon6:c.C1095A:p.T365T,CSF1:NM_172212:exon6:c.C1095A:p.T365T 0.43 0.11 0.57 0.4 0.62 0.6 0.5573 0.1826 0.6141 0.4316 0.6404 0.6019 0.5893 0.6048 0.46 0.19 0.6 0.4 0.58 rs333970 COSM3750219;COSM3750220 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5682 0.1810 0.6083 0.5416 0.4340 0.6429 0.6078 0.5865 0.6005 0.4853 0.1885 0.6283 0.5867 0.4414 0.6333 0.6129 0.5727 hom 3985.81 122 1 110466338 . C A 3985.81 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.335;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4025;MQ=58.67;MQ0=0;MQRankSum=-0.852;QD=32.67;ReadPosRankSum=-1.505;VQSLOD=8.2965;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,121:122:99:3951,282,0 1 110466709 110466709 T C exonic CSF1 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 1. 0.99 1. 1. 1. 1. 0.9991 0.9902 0.9998 1 1 1.0000 0.9989 1 1. 0.99 1. 0.97 0.92 rs333971 . . . . . . . . . . . . . 1.0 0.055 T 0.0 0.090 B 0.0 0.040 B 0.090 0.204 N 1 0.090 P -1.39 0.006 N 2.96 0.096 T 2.32 0.003 N 0.124 0.140 -0.915 0.463 T 0.002 0.006 T . . . -0.434 0.059 0.319 0.313 0.017 0.007 0.029 N c -1.468 -1.303 1.000 0.517 0.707 0.730 0 4.57 0.557 -0.104 0.108 0.040 0.155 0.000 0.063 0.000 0.016 9.415 0.375 . . . 0.9992 0.9895 0.9993 1 1 1 1.0000 0.9995 1 0.9970 0.9896 1 1 1 1 1 0.9990 hom 3848.45 117 1 110466709 . T C 3848.45 Mask AC=2;AF=1.00;AN=2;DP=117;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=60.00;MQ0=0;QD=32.89;VQSLOD=9.3094;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,117:117:99:3848,298,0 1 110738296 110738296 G A exonic SLC6A17 synonymous SNV SLC6A17:NM_001010898:exon10:c.G1581A:p.S527S 0.29 0.044 0.38 0.3 0.45 0.37 0.4141 0.0999 0.3123 0.2750 0.5124 0.4943 0.4148 0.3924 0.37 0.11 0.5 0.3 0.5 rs2784140 COSM146574 1(haematopoietic_and_lymphoid_tissue);1(stomach);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4178 0.0952 0.3304 0.4343 0.2733 0.5147 0.4963 0.4321 0.3919 0.3789 0.1127 0.3461 0.4603 0.2859 0.4917 0.5119 0.4703 het 1160.37 101 1 110738296 . G A 1160.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.666;DP=101;Dels=0.00;FS=1.643;HRun=0;HaplotypeScore=7.0697;MQ=59.54;MQ0=0;MQRankSum=-1.291;QD=11.49;ReadPosRankSum=-0.767;VQSLOD=4.1188;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:54,47:101:99:1190,0,1360 1 110882444 110882444 A G exonic RBM15 synonymous SNV RBM15:NM_001201545:exon1:c.A417G:p.E139E,RBM15:NM_022768:exon1:c.A417G:p.E139E 0.82 0.95 0.85 0.77 0.69 0.82 0.7613 0.9305 0.8484 0.7513 0.6926 0.7222 0.7281 0.7926 0.79 0.93 0.72 0.74 0.5 rs814771 COSM3750221 1(large_intestine);1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7586 0.9316 0.8409 0.6916 0.7419 0.7006 0.7232 0.7148 0.7902 0.7926 0.9240 0.8385 0.6954 0.7301 0.6873 0.7495 0.7510 hom 907.40 29 1 110882444 . A G 907.40 Mask AC=2;AF=1.00;AN=2;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.29;VQSLOD=13.2894;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,29:29:75.21:940,75,0 1 110883569 110883569 A T exonic RBM15 synonymous SNV RBM15:NM_001201545:exon1:c.A1542T:p.P514P,RBM15:NM_022768:exon1:c.A1542T:p.P514P 0.18 0.032 0.16 0.26 0.19 0.28 0.1960 0.0532 0.1893 0.2692 0.1839 0.1938 0.1696 0.2669 0.14 0.056 0.19 0.14 0.21 rs3738752 COSM146575 1(breast);2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1966 0.0510 0.1890 0.2452 0.2660 0.1858 0.1871 0.1886 0.2669 0.1518 0.0524 0.1882 0.2583 0.2725 0.1830 0.1817 0.2041 het 1929.73 124 1 110883569 . A T 1929.73 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.783;DP=124;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.9812;MQ=59.33;MQ0=0;MQRankSum=0.697;QD=15.56;ReadPosRankSum=-1.444;VQSLOD=4.8578;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:57,67:124:99:1960,0,1624 1 110924353 110924353 G A exonic SLC16A4 synonymous SNV SLC16A4:NM_001201547:exon3:c.C99T:p.F33F,SLC16A4:NM_001319220:exon3:c.C99T:p.F33F,SLC16A4:NM_001201549:exon4:c.C285T:p.F95F,SLC16A4:NM_004696:exon4:c.C285T:p.F95F 0.18 0.032 0.16 0.26 0.19 0.28 0.1966 0.0535 0.1912 0.2691 0.1843 0.1945 0.1696 0.2659 0.14 0.056 0.19 0.14 0.2 rs3738750 COSM146577 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1957 0.0508 0.1876 0.2428 0.2651 0.1857 0.1865 0.1871 0.2651 0.1519 0.0524 0.1894 0.26 0.2741 0.1828 0.1817 0.2047 het 791.37 72 1 110924353 . G A 791.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.888;DP=72;Dels=0.00;FS=14.929;HRun=3;HaplotypeScore=1.9978;MQ=58.50;MQ0=0;MQRankSum=0.421;QD=10.99;ReadPosRankSum=-0.660;VQSLOD=3.8231;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:41,31:72:99:821,0,1119 1 110950439 110950439 C T exonic LAMTOR5 nonsynonymous SNV LAMTOR5:NM_006402:exon1:c.G50A:p.S17N 0.36 0.31 0.38 0.28 0.45 0.44 0.4359 0.3471 0.3904 0.2513 0.4779 0.4807 0.4367 0.4226 0.44 0.35 0.49 0.36 0.43 rs6674775 COSM1332599 1(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.0 0.912 D . . . . . . . . . 1 0.090 P . . . . . . -0.07 0.080 N 0.019 0.004 -1.006 0.281 T 0.015 0.058 T . . . 1.035 0.193 10.86 0.971 0.320 0.021 0.062 N c -0.949 -1.221 1.0 0.983 0.025 0.001 3 -4.97 0.028 -0.458 0.068 -0.267 0.087 0.000 0.063 0.000 0.016 1.919 0.031 . ENSG00000143125.5|ENSG00000270380.1|ENSG00000143125.5|ENSG00000270380.1|ENSG00000143125.5|ENSG00000270380.1|ENSG00000270380.1|ENSG00000143125.5|ENSG00000134248.9|ENSG00000224699.4|ENSG00000134248.9|ENSG00000168679.13|ENSG00000270380.1|ENSG00000143125.5 Artery_Coronary|Artery_Coronary|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Thyroid 0.4353 0.3421 0.3899 0.3215 0.2478 0.4850 0.4945 0.4299 0.4233 0.4529 0.3499 0.4002 0.3444 0.2456 0.4765 0.5345 0.4581 het 907.16 70 1 110950439 . C T 907.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.073;DP=70;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4858;MQ=60.00;MQ0=0;MQRankSum=-0.934;QD=12.96;ReadPosRankSum=0.264;VQSLOD=6.0253;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:36,34:70:99:937,0,1101 1 110998854 110998854 G A exonic PROK1 nonsynonymous SNV PROK1:NM_032414:exon3:c.G199A:p.V67I 0.44 0.37 0.57 0.58 0.42 0.34 0.4362 0.3707 0.6226 0.5693 0.3830 0.4171 0.4372 0.3755 0.41 0.38 0.42 0.48 0.49 rs7514102 COSM146578 1(stomach);1(thyroid) . . . . . . . . . . . 0.298 0.146 T 0.003 0.102 B 0.009 0.133 B 0.688 0.102 N 0.418 0.324 P 1.655 0.426 L -2.1 0.862 D -0.37 0.132 N 0.04 0.020 -1.067 0.100 T 0.243 0.612 T . . . -0.674 0.046 0.083 0.626 0.068 0.780 0.381 D c -1.183 -1.261 0.217 0.183 0.554 0.283 0 -7.86 0.010 0.929 0.282 -0.799 0.032 1.000 0.715 0.115 0.194 11.213 0.479 Prokineticin domain . . 0.4431 0.3627 0.6047 0.4531 0.5606 0.3931 0.4135 0.4311 0.3800 0.4097 0.3693 0.5632 0.4503 0.5558 0.3920 0.4106 0.4322 hom 4273.61 137 1 110998854 . G A 4273.61 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.59;MQ0=0;QD=31.19;VQSLOD=9.3876;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4273,346,0 1 111060669 111060669 T C exonic KCNA10 synonymous SNV KCNA10:NM_005549:exon1:c.A741G:p.L247L 0.62 0.51 0.78 0.59 0.73 0.59 0.7049 0.5580 0.8245 0.5743 0.6972 0.7462 0.6894 0.6192 0.67 0.56 0.73 0.66 0.76 rs1281175 COSM3996740 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7103 0.5534 0.8206 0.7398 0.5762 0.6955 0.7441 0.7268 0.6190 0.6765 0.5556 0.7806 0.7219 0.5619 0.7148 0.7399 0.7253 het 1973 167 1 111060669 . T C 1973 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.131;DP=167;DS;Dels=0.00;FS=6.271;HRun=0;HaplotypeScore=4.3535;MQ=59.72;MQ0=0;MQRankSum=-0.227;QD=11.81;ReadPosRankSum=-1.883;VQSLOD=3.9873;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:94,73:167:99:2003,0,2598 1 111061011 111061011 C A exonic KCNA10 synonymous SNV KCNA10:NM_005549:exon1:c.G399T:p.R133R 0.18 0.19 0.25 0.17 0.2 0.12 0.2117 0.1921 0.2426 0.1668 0.2122 0.2265 0.2031 0.1663 0.21 0.19 0.22 0.24 0.31 rs3748731 COSM3750223 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2115 0.1870 0.2377 0.2790 0.1635 0.2054 0.2207 0.2276 0.1688 0.2023 0.1887 0.2100 0.2583 0.1681 0.2095 0.2093 0.2230 het 1116.31 81 1 111061011 . C A 1116.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.873;DP=81;Dels=0.00;FS=1.845;HRun=0;HaplotypeScore=1.9963;MQ=58.76;MQ0=0;MQRankSum=1.996;QD=13.78;ReadPosRankSum=-0.014;VQSLOD=6.0275;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:37,44:81:99:1146,0,998 1 111061062 111061062 T C exonic KCNA10 synonymous SNV KCNA10:NM_005549:exon1:c.A348G:p.E116E 0.62 0.51 0.78 0.59 0.73 0.59 0.7050 0.5585 0.8247 0.5743 0.6967 0.7461 0.6894 0.6194 0.67 0.56 0.73 0.66 0.76 rs1281174 COSM5021286 1(bone) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7103 0.5533 0.8206 0.7399 0.5764 0.6953 0.7440 0.7265 0.6192 0.6762 0.5555 0.7799 0.7219 0.5613 0.7156 0.7399 0.7220 het 1300.13 103 1 111061062 . T C 1300.13 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.494;DP=103;Dels=0.00;FS=4.950;HRun=0;HaplotypeScore=0.0000;MQ=59.64;MQ0=0;MQRankSum=1.224;QD=12.62;ReadPosRankSum=0.425;VQSLOD=6.0550;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:51,52:103:99:1330,0,1331 1 111726869 111726869 G A exonic CEPT1 synonymous SNV CEPT1:NM_001007794:exon9:c.G1188A:p.A396A,CEPT1:NM_001330743:exon9:c.G1188A:p.A396A,CEPT1:NM_006090:exon9:c.G1188A:p.A396A 0.19 0.026 0.18 0.33 0.28 0.18 0.2421 0.0640 0.1677 0.3625 0.3357 0.2731 0.2489 0.1802 0.21 0.073 0.27 0.14 0.23 rs3795823 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2447 0.0599 0.1668 0.2244 0.3680 0.3441 0.2741 0.2425 0.1804 0.2316 0.0657 0.1998 0.2450 0.3618 0.3396 0.2871 0.2822 het 1383.80 130 1 111726869 . G A 1383.80 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.150;DP=130;Dels=0.00;FS=5.540;HRun=0;HaplotypeScore=1.9983;MQ=58.42;MQ0=0;MQRankSum=-1.089;QD=10.64;ReadPosRankSum=-1.450;VQSLOD=4.4208;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:73,57:130:99:1414,0,1743 1 111783982 111783982 C A exonic CHI3L2 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 0.19 0.051 0.17 0.2 0.33 0.24 0.2761 0.0909 0.1355 0.1875 0.3351 0.3450 0.3227 0.2330 0.23 0.1 0.3 0.16 0.24 rs13721 COSM3996742 1(haematopoietic_and_lymphoid_tissue) Benign not_specified RCV000454935.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2729 0.0886 0.1510 0.3333 0.1878 0.3343 0.3409 0.3040 0.2293 0.2633 0.0985 0.1854 0.3311 0.2138 0.3291 0.3490 0.3152 hom 2290.97 144 1 111783982 . C A 2290.97 Mask AC=2;AF=1.00;AN=2;DP=144;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.98;MQ0=0;QD=15.91;VQSLOD=6.5768;culprit=QD;set=variant GT:AD:DP:GQ:PL 1/1:0,74:144:99:2324,181,0 1 111783996 111783996 A G exonic CHI3L2 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 1. 1. 1. 1. 1. 1. 0.9998 0.9982 0.9999 1 1 1 1 1 1. 1. 1. 1. 1. rs2494007 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9999 0.9979 0.9999 1 1 1 1 1 1 0.9990 0.9966 1 1 1 1 1 1 hom 4366.11 135 1 111783996 . A G 4366.11 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.706;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=57.99;MQ0=0;MQRankSum=-0.372;QD=32.34;ReadPosRankSum=0.475;VQSLOD=8.2708;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,134:135:99:4366,337,0 1 111854889 111854889 A G exonic CHIA nonsynonymous SNV CHIA:NM_201653:exon4:c.A133G:p.N45D 0.11 0.21 0.084 . 0.11 0.097 0.1069 0.1961 0.0826 0.0002 0.0699 0.1188 0.1056 0.0933 0.14 0.19 0.12 0.12 0.15 rs41282492 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.01 0.139 B 0.160 0.177 N 1.000 0.419 P 0.225 0.096 N 3.58 0.046 T 0.23 0.046 N 0.01 0.007 -0.933 0.437 T 0.002 0.007 T . . . -1.176 0.026 0.007 0.346 0.021 0.008 0.032 N c -1.581 -1.557 0.001 0.082 0.487 0.133 0 -2.92 0.052 0.204 0.170 -0.753 0.034 0.006 0.172 0.318 0.240 13.483 0.606 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173947.9 Muscle_Skeletal 0.1052 0.1950 0.0834 0.1758 0.0001 0.0705 0.1191 0.1131 0.0942 0.1248 0.1988 0.0931 0.1788 0 0.0756 0.1098 0.0888 het 2086.18 202 1 111854889 . A G 2086.18 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.619;DP=202;Dels=0.00;FS=5.033;HRun=0;HaplotypeScore=7.0443;MQ=58.94;MQ0=0;MQRankSum=2.042;QD=10.33;ReadPosRankSum=0.094;VQSLOD=3.5292;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:115,87:202:99:2116,0,3148 1 111854895 111854895 G A exonic CHIA nonsynonymous SNV CHIA:NM_201653:exon4:c.G139A:p.D47N 0.11 0.21 0.082 . 0.11 0.097 0.1070 0.1911 0.0833 0.0005 0.0699 0.1196 0.1056 0.0933 0.14 0.18 0.12 0.12 0.15 rs41282494 . . . . . . . . . . . . . 0.042 0.416 D 0.944 0.512 P 0.504 0.459 P 0.001 0.392 N 0.902 0.810 P 2.305 0.662 M 3.29 0.065 T -3.95 0.734 D 0.062 0.129 -0.995 0.313 T 0.012 0.047 T . . . 5.412 0.734 26.0 0.998 0.884 0.950 0.628 D c 0.098 0.071 0.070 0.155 0.487 0.133 0 3.22 0.359 4.178 0.578 0.136 0.221 1.000 0.715 0.535 0.277 9.990 0.408 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173947.9 Muscle_Skeletal 0.1055 0.1894 0.0838 0.1868 0.0003 0.0706 0.1193 0.1139 0.0942 0.1237 0.1936 0.0931 0.1887 0 0.0756 0.1101 0.0900 het 2352.47 205 1 111854895 . G A 2352.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.506;DP=205;Dels=0.00;FS=3.228;HRun=1;HaplotypeScore=5.8384;MQ=59.07;MQ0=0;MQRankSum=2.715;QD=11.48;ReadPosRankSum=-0.500;VQSLOD=3.3570;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:115,90:205:99:2382,0,2824 1 111854938 111854938 G T exonic CHIA nonsynonymous SNV CHIA:NM_201653:exon4:c.G182T:p.R61M 0.11 0.21 0.082 . 0.11 0.097 0.1066 0.1912 0.0826 0.0002 0.0705 0.1189 0.1058 0.0933 0.14 0.18 0.12 0.12 0.15 rs41282496 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.629 N 0.700 0.810 P -3.325 0.000 N 3.51 0.050 T 4.45 0.000 N 0.078 0.157 -0.962 0.388 T 0.001 0.003 T . . . 0.261 0.119 5.309 0.202 0.007 0.034 0.083 N c -1.085 -0.755 0.320 0.194 0.487 0.133 0 4.93 0.643 5.478 0.663 0.152 0.238 1.000 0.715 0.534 0.277 10.441 0.435 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000173947.9 Muscle_Skeletal 0.1049 0.1895 0.0833 0.1760 0.0001 0.0706 0.1192 0.1131 0.0942 0.1237 0.1941 0.0931 0.18 0 0.0757 0.1101 0.0888 het 2723.54 249 1 111854938 . G T 2723.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.430;DP=249;DS;Dels=0.00;FS=2.203;HRun=0;HaplotypeScore=5.7799;MQ=58.73;MQ0=0;MQRankSum=1.232;QD=10.94;ReadPosRankSum=0.089;VQSLOD=4.4064;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,106:249:99:2754,0,3774 1 111861822 111861822 G A exonic CHIA 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 0.075 0.089 0.073 . 0.11 0.097 0.0979 0.0935 0.0787 0.0002 0.0702 0.1184 0.1013 0.0931 0.11 0.098 0.12 0.054 0.15 rs17027410 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0978 0.0923 0.0789 0.1754 0.0001 0.0706 0.1185 0.1086 0.0937 0.0957 0.0981 0.0837 0.1788 0 0.0756 0.1093 0.0815 het 1333.98 129 1 111861822 . G A 1333.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.212;DP=129;Dels=0.00;FS=2.391;HRun=0;HaplotypeScore=5.4086;MQ=59.19;MQ0=0;MQRankSum=0.515;QD=10.34;ReadPosRankSum=0.902;VQSLOD=5.2074;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,53:129:99:1364,0,2122 1 111861841 111861841 A G exonic CHIA 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 0.66 0.8 0.43 0.48 0.71 0.77 0.6554 0.7777 0.3255 0.4476 0.6445 0.6960 0.6608 0.7581 0.72 0.77 0.7 0.71 0.75 rs2275253 COSM1179735;COSM1179734 1(prostate) . . . . . . . . . . . 0.752 0.036 T 0.0 0.026 B 0.001 0.040 B 0.396 0.045 N 1 0.090 P -0.5 0.026 N 3.55 0.048 T 0.42 0.034 N 0.02 0.213 -0.904 0.475 T 0.002 0.005 T . . . -1.557 0.016 0.002 0.698 0.088 0.007 0.031 N c -1.531 -1.507 0.325 0.194 0.497 0.185 0 -3.21 0.048 -0.443 0.069 0.138 0.222 0.000 0.063 0.210 0.219 8.042 0.295 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily;Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain ENSG00000134216.14 Adipose_Subcutaneous 0.6402 0.7783 0.3471 0.7070 0.4529 0.6384 0.7003 0.6443 0.7577 0.6933 0.7805 0.4308 0.6954 0.4469 0.6499 0.6977 0.6354 hom 3925.06 135 1 111861841 . A G 3925.06 Mask AC=2;AF=1.00;AN=2;DP=135;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.23;MQ0=0;QD=29.07;VQSLOD=8.6079;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,135:135:99:3924,319,0 1 111861974 111861974 T C exonic CHIA 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 0.44 0.32 0.31 0.38 0.6 0.61 0.5082 0.3437 0.2615 0.3459 0.5468 0.5734 0.5277 0.5899 0.5 0.35 0.58 0.37 0.57 rs2275254 COSM3996745;COSM3996744 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.023 0.518 D 1.0 0.899 D 0.997 0.850 D 0.099 0.199 N 0.215 0.343 P 3.11 0.880 M 3.4 0.057 T -5.59 0.867 D 0.241 0.569 -1.055 0.129 T 0.046 0.198 T . . . 4.984 0.670 25.1 0.998 0.902 0.906 0.516 D c 0.461 0.297 0.774 0.237 0.497 0.185 0 3.8 0.427 2.757 0.470 1.061 0.807 1.000 0.715 0.967 0.454 9.355 0.371 Chitinase II|Glycoside hydrolase family 18\x2c catalytic domain|Glycoside hydrolase superfamily|Glycoside hydrolase\x2c catalytic domain . . 0.5024 0.3349 0.2783 0.6220 0.3475 0.5403 0.5746 0.5212 0.5856 0.4859 0.3504 0.3437 0.6159 0.3397 0.5456 0.5690 0.5319 hom 2925.14 94 1 111861974 . T C 2925.14 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8923;MQ=59.75;MQ0=0;QD=31.12;VQSLOD=8.6765;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2958,229,0 1 111862078 111862078 C T exonic CHIA 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 0.1 0.19 0.082 . 0.11 0.097 0.1052 0.1732 0.0814 0.0002 0.0702 0.1189 0.1033 0.0934 0.14 0.17 0.12 0.11 0.12 rs12094378 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1030 0.1692 0.0821 0.1752 0.0001 0.0704 0.1185 0.1112 0.0940 0.1166 0.1704 0.0931 0.1788 0 0.0753 0.1096 0.0859 het 1300.29 88 1 111862078 . C T 1300.29 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.426;DP=88;Dels=0.00;FS=1.885;HRun=1;HaplotypeScore=3.3635;MQ=59.08;MQ0=0;MQRankSum=0.038;QD=14.78;ReadPosRankSum=-1.018;VQSLOD=6.1404;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,48:88:99:1330,0,1091 1 111862952 111862952 T G exonic CHIA 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 0.66 0.79 0.42 0.48 0.71 0.77 0.6552 0.7718 0.3246 0.4492 0.6452 0.6963 0.6623 0.7588 0.72 0.77 0.7 0.69 0.72 rs2256721 COSM3750231;COSM3750230 1(bone);1(breast);1(thyroid);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.457 N 0.520 0.316 P -3.04 0.000 N 1.79 0.255 T 4.72 0.000 N 0.033 0.562 -0.960 0.392 T 0.002 0.006 T . . . 0.502 0.142 7.447 0.799 0.125 0.014 0.047 N c -1.265 -1.003 0.994 0.336 0.497 0.185 0 1.49 0.219 2.285 0.429 -0.308 0.079 1.000 0.715 0.295 0.236 4.952 0.133 Chitin binding domain;Chitinase II|Chitinase insertion domain|Glycoside hydrolase family 18\x2c catalytic domain ENSG00000134216.14 Adipose_Subcutaneous 0.6399 0.7729 0.3461 0.7060 0.4538 0.6386 0.7006 0.6440 0.7581 0.6925 0.7773 0.4318 0.6954 0.4478 0.6499 0.6976 0.6365 hom 3015.50 88 1 111862952 . T G 3015.50 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7887;MQ=59.29;MQ0=0;QD=34.27;VQSLOD=9.3142;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,87:88:99:3049,241,0 1 111891192 111891192 C A exonic PIFO nonsynonymous SNV PIFO:NM_001300831:exon3:c.C214A:p.H72N,PIFO:NM_181643:exon4:c.C313A:p.H105N 0.083 0.11 0.079 . 0.12 0.097 0.1037 0.1090 0.0808 0.0002 0.0593 0.1264 0.1106 0.0963 0.12 0.11 0.13 0.076 0.15 rs2184884 . . . . . . . . . . . . . 0.306 0.176 T 0.763 0.417 P 0.288 0.389 B 0.775 0.066 N 1 0.090 P 1.955 0.530 M 1.95 0.307 T -2.86 0.651 D 0.025 0.047 -1.030 0.204 T 0.027 0.114 T . . . 0.516 0.143 7.551 0.749 0.105 0.015 0.050 N c -0.670 -0.851 0.308 0.193 0.615 0.372 0 -1.47 0.083 -0.812 0.046 0.935 0.490 0.001 0.137 0.930 0.404 0.338 0.003 . . . 0.1007 0.1064 0.0781 0.1736 0.0001 0.0620 0.1256 0.1126 0.0916 0.1023 0.1101 0.0907 0.1755 0 0.0662 0.1174 0.0857 het 2714.10 250 1 111891192 . C A 2714.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.563;DP=250;DS;Dels=0.00;FS=1.678;HRun=5;HaplotypeScore=4.4703;MQ=59.14;MQ0=0;MQRankSum=0.789;QD=10.86;ReadPosRankSum=-0.089;VQSLOD=5.9795;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:148,102:250:99:2744,0,4293 1 112042632 112042632 A G exonic ADORA3 synonymous SNV ADORA3:NM_000677:exon2:c.T897C:p.A299A,ADORA3:NM_001302679:exon2:c.T462C:p.A154A 0.77 0.74 0.86 0.76 0.83 0.72 0.8065 0.7378 0.8505 0.7683 0.8510 0.8195 0.8293 0.7677 0.79 0.74 0.81 0.84 0.89 rs2229155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8098 0.7375 0.8470 0.8480 0.7669 0.8432 0.8162 0.8273 0.7664 0.7900 0.7504 0.8453 0.8642 0.7772 0.8405 0.7963 0.8157 hom 2796.60 92 1 112042632 . A G 2796.60 Mask AC=2;AF=1.00;AN=2;DP=92;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.9330;MQ=59.92;MQ0=0;QD=30.40;VQSLOD=8.0331;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,92:92:99:2830,214,0 1 112042787 112042787 T G exonic ADORA3 nonsynonymous SNV ADORA3:NM_000677:exon2:c.A742C:p.I248L,ADORA3:NM_001302679:exon2:c.A307C:p.I103L 0.059 0.063 0.084 0.001 0.14 0.015 0.0947 0.0585 0.0616 0.0002 0.0782 0.1349 0.1162 0.0333 0.11 0.058 0.14 0.033 0.16 rs35511654 . . . . . . . . . . . . . 0.006 0.614 D 0.993 0.637 D 0.928 0.645 D . . . 0.212 0.810 P 0.96 0.240 L -0.84 0.743 T -1.74 0.412 N 0.231 0.283 -0.494 0.689 T 0.301 0.672 T . . . 1.816 0.279 15.08 0.990 0.506 0.970 0.720 D c 0.276 0.239 1.000 0.747 0.516 0.203 0 3.86 0.435 3.206 0.506 0.964 0.580 1.000 0.715 0.983 0.502 10.992 0.466 GPCR\x2c rhodopsin-like\x2c 7TM . . 0.0943 0.0571 0.0653 0.1589 0.0002 0.0799 0.1364 0.1129 0.0313 0.0911 0.0617 0.0704 0.1589 0 0.0781 0.1206 0.0937 het 1786.17 108 1 112042787 . T G 1786.17 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.099;DP=108;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8332;MQ=59.21;MQ0=0;MQRankSum=-0.129;QD=16.54;ReadPosRankSum=1.182;VQSLOD=5.7809;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:42,66:108:99:1816,0,991 1 112269872 112269872 G A exonic FAM212B synonymous SNV FAM212B:NM_019099:exon2:c.C612T:p.F204F,FAM212B:NM_198926:exon2:c.C567T:p.F189F 0.86 0.96 0.75 0.83 0.82 0.89 0.8237 0.9382 0.6966 0.8253 0.8070 0.8176 0.8062 0.8724 0.86 0.93 0.82 0.84 0.78 rs197434 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8170 0.9413 0.7110 0.7605 0.8297 0.8092 0.8216 0.8151 0.8708 0.8444 0.9371 0.7620 0.8079 0.8335 0.8019 0.8084 0.8190 hom 3366.53 105 1 112269872 . G A 3366.53 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.2173;MQ=59.42;MQ0=0;QD=32.06;VQSLOD=7.0839;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3366,271,0 1 112298582 112298582 A G exonic DDX20 synonymous SNV DDX20:NM_007204:exon1:c.A36G:p.A12A 0.24 0.57 0.15 0.037 0.2 0.13 0.2050 0.5141 0.0866 0.0426 0.2431 0.2090 0.1808 0.1780 0.27 0.44 0.19 0.23 0.15 rs197392 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1840 0.5012 0.0922 0.1386 0.0417 0.2253 0.2002 0.1680 0.1461 0.2776 0.4845 0.1348 0.1159 0.0444 0.2321 0.2093 0.2071 hom 748.36 27 1 112298582 . A G 748.36 Mask AC=2;AF=1.00;AN=2;DP=27;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=57.18;MQ0=0;QD=27.72;VQSLOD=7.9687;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,27:27:63.18:781,63,0 1 112308953 112308953 T C exonic DDX20 nonsynonymous SNV DDX20:NM_007204:exon11:c.T1907C:p.I636T 0.47 0.72 0.51 0.34 0.42 0.31 0.4271 0.6796 0.5482 0.3512 0.4558 0.3966 0.4031 0.3359 0.48 0.67 0.39 0.48 0.39 rs197412 COSM4142147 1(thyroid);1(large_intestine) . . . . . . . . . . . 0.652 0.079 T 0.0 0.026 B 0.0 0.013 B 0.011 0.013 N 1 0.090 P -1.79 0.003 N 1.47 0.320 T 0.49 0.030 N 0.019 0.031 -0.985 0.338 T 0.009 0.031 T . . . -1.833 0.010 0.002 0.682 0.083 0.118 0.167 N c -1.022 -0.839 0.944 0.275 0.707 0.730 0 3.86 0.435 1.933 0.395 -0.339 0.072 0.754 0.289 0.195 0.216 5.181 0.144 . ENSG00000227811.2 Thyroid 0.4258 0.6882 0.5321 0.3564 0.3459 0.4518 0.3963 0.4120 0.3374 0.4899 0.6753 0.4857 0.3 0.3412 0.4725 0.4114 0.4086 hom 948.04 28 1 112308953 . T C 948.04 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.238;DP=28;Dels=0.00;FS=3.522;HRun=0;HaplotypeScore=0.9989;MQ=60.00;MQ0=0;MQRankSum=-0.867;QD=33.86;ReadPosRankSum=0.495;VQSLOD=4.8777;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:1,27:28:49:981,49,0 1 112308972 112308972 G A exonic DDX20 synonymous SNV DDX20:NM_007204:exon11:c.G1926A:p.V642V 0.48 0.74 0.51 0.34 0.42 0.31 0.4274 0.6898 0.5480 0.3510 0.4556 0.3958 0.4031 0.3358 0.49 0.68 0.39 0.48 0.39 rs197413 COSM3721436 1(thyroid);1(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4262 0.6987 0.5325 0.3566 0.3457 0.4513 0.3957 0.4114 0.3373 0.4922 0.6851 0.4857 0.3 0.34 0.4719 0.4106 0.4088 hom 1179.76 40 1 112308972 . G A 1179.76 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.733;DP=40;Dels=0.00;FS=3.233;HRun=0;HaplotypeScore=2.8649;MQ=60.00;MQ0=0;MQRankSum=-0.173;QD=29.49;ReadPosRankSum=-1.386;VQSLOD=4.0319;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 1/1:1,39:40:66.74:1213,67,0 1 112991698 112991698 T C exonic CTTNBP2NL synonymous SNV CTTNBP2NL:NM_018704:exon4:c.T234C:p.N78N 0.53 0.32 0.57 0.45 0.66 0.71 0.5987 0.3803 0.5277 0.4277 0.5768 0.6413 0.5982 0.7117 0.56 0.39 0.65 0.49 0.68 rs2256883 COSM146582 1(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5969 0.3767 0.5313 0.6379 0.4285 0.5686 0.6445 0.5801 0.7096 0.5359 0.3734 0.5501 0.6291 0.4422 0.5626 0.6267 0.6135 hom 2115.39 71 1 112991698 . T C 2115.39 Mask AC=2;AF=1.00;AN=2;DP=71;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6642;MQ=57.95;MQ0=0;QD=29.79;VQSLOD=7.5734;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,71:71:99:2148,165,0 1 112999227 112999227 G A exonic CTTNBP2NL synonymous SNV CTTNBP2NL:NM_018704:exon6:c.G1113A:p.Q371Q 0.94 0.96 0.94 1. 0.86 0.94 0.8917 0.9382 0.9567 0.9984 0.8592 0.8520 0.8910 0.9344 0.88 0.93 0.86 0.95 0.84 rs1175641 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8942 0.9361 0.9522 0.8803 0.9984 0.8586 0.8529 0.8864 0.9332 0.8806 0.9269 0.9414 0.8940 0.9994 0.8511 0.8439 0.8829 hom 6277.94 182 1 112999227 . G A 6277.94 Mask AC=2;AF=1.00;AN=2;DP=182;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=4.8426;MQ=59.54;MQ0=0;QD=34.49;VQSLOD=7.7713;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,182:182:99:6277,491,0 1 113255389 113255389 C T exonic PPM1J nonsynonymous SNV PPM1J:NM_005167:exon3:c.G706A:p.V236I 0.97 0.88 0.99 1. 1. 1. 0.9897 0.8894 0.9952 1 1 0.9995 0.9934 0.9996 0.96 0.89 1. 0.97 1. rs10857971 . . . . . . . . . . . . . 0.554 0.065 T 0.0 0.090 B 0.0 0.040 B 0.000 0.843 N 1.000 0.186 P -1.68 0.004 N 2.44 0.152 T 0.81 0.018 N 0.041 0.097 -0.920 0.455 T 0.004 0.013 T . . . 1.718 0.268 14.51 0.838 0.144 0.069 0.128 N c -0.775 -0.470 1.000 0.747 0.696 0.567 0 4.72 0.591 2.090 0.411 0.154 0.240 1.000 0.715 0.999 0.750 10.051 0.412 PPM-type phosphatase domain . . 0.9917 0.8849 0.9946 0.9990 1 1 0.9996 0.9951 0.9996 0.9667 0.8842 0.9952 1 1 1 0.9996 0.9898 hom 7102.07 226 1 113255389 . C T 7102.07 Mask AC=2;AF=1.00;AN=2;DP=226;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.3917;MQ=59.48;MQ0=0;QD=31.43;VQSLOD=6.5375;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,226:226:99:7101,560,0 1 113657092 113657092 A C exonic LRIG2 synonymous SNV LRIG2:NM_014813:exon15:c.A2124C:p.T708T,LRIG2:NM_001312686:exon16:c.A1815C:p.T605T 0.9 0.7 0.97 0.95 0.99 0.98 0.9633 0.7366 0.9815 0.9677 0.9890 0.9862 0.9857 0.9868 0.9 0.74 0.99 0.87 0.98 rs1216793 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9671 0.7291 0.9784 0.9860 0.9664 0.9891 0.9849 0.9759 0.9859 0.9157 0.7413 0.9737 0.99 0.9690 0.9891 0.9855 0.9763 hom 2682.78 94 1 113657092 . A C 2682.78 Mask AC=2;AF=1.00;AN=2;DP=94;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=2.5257;MQ=57.91;MQ0=0;QD=28.24;VQSLOD=7.5269;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,94:94:99:2716,202,0 1 114377568 114377568 A G exonic PTPN22 nonsynonymous SNV PTPN22:NM_012411:exon12:c.T1693C:p.W565R,PTPN22:NM_001308297:exon13:c.T1786C:p.W596R,PTPN22:NM_001193431:exon14:c.T1858C:p.W620R,PTPN22:NM_015967:exon14:c.T1858C:p.W620R 0.97 1. 0.96 1. 0.91 0.99 0.9332 0.9864 0.9750 1 0.8553 0.9034 0.9449 0.9861 0.93 0.98 0.91 0.9 0.8 rs2476601 . . other|other|other|other|other 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 RCV000009460.2|RCV000009461.2|RCV000009462.2|RCV000009463.2|RCV000009464.2 . . Type 1 diabetes 1.98 . 17554260 rs2476601 2E-80 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.588 P . . . 4.64 0.028 T 5.1 0.000 N 0.321 0.408 -0.906 0.474 T 0.004 0.014 T . . . 1.021 0.192 10.78 0.842 0.146 0.023 0.066 N c -0.615 -0.448 0.963 0.286 0.707 0.730 0 2.7 0.309 0.807 0.266 0.076 0.183 0.986 0.359 0.992 0.562 7.516 0.266 . . . 0.9285 0.9855 0.9698 0.9486 0.9999 0.8526 0.9015 0.9287 0.9868 0.9187 0.9829 0.9702 0.9437 1 0.8509 0.8861 0.9002 hom 6732.11 231 1 114377568 . A G 6732.11 Mask AC=2;AF=1.00;AN=2;DP=231;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.4950;MQ=59.61;MQ0=0;QD=29.14;VQSLOD=7.7273;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,231:231:99:6731,521,0 1 114394689 114394689 C T exonic PTPN22 nonsynonymous SNV PTPN22:NM_001308297:exon9:c.G716A:p.R239Q,PTPN22:NM_001193431:exon10:c.G788A:p.R263Q,PTPN22:NM_015967:exon10:c.G788A:p.R263Q 0.011 0.0023 0.02 . 0.026 0.012 0.0175 0.0057 0.0139 0.0005 0.0204 0.0226 0.0172 0.0146 0.016 0.0064 0.021 0.011 0.041 rs33996649 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.147 B 0.0 0.040 B 0.001 0.395 N 1 0.810 D -0.245 0.039 N -1.69 0.830 D 2.56 0.003 N 0.047 0.101 -0.969 0.374 T 0.080 0.317 T . . . 1.930 0.293 15.77 0.804 0.128 0.082 0.140 N c -0.945 -0.659 0.785 0.239 0.732 0.924 0 3.43 0.382 3.929 0.560 -0.724 0.036 1.000 0.715 0.977 0.480 13.045 0.582 PTP type protein phosphatase|Protein-tyrosine phosphatase\x2c catalytic|Protein-tyrosine phosphatase-like|Tyrosine specific protein phosphatases domain;PTP type protein phosphatase|Protein-tyrosine phosphatase-like|Tyrosine specific protein phosphatases domain . . 0.0172 0.0046 0.0146 0.0129 0.0002 0.0225 0.0227 0.0168 0.0133 0.0157 0.0050 0.0215 0.0132 0 0.0180 0.0233 0.0092 het 599.21 72 1 114394689 . C T 599.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.902;DP=72;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9913;MQ=59.13;MQ0=0;MQRankSum=1.249;QD=8.32;ReadPosRankSum=1.049;VQSLOD=5.7898;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,26:72:99:629,0,1059 1 114424601 114424601 C T exonic BCL2L15 nonsynonymous SNV BCL2L15:NM_001010922:exon3:c.G268A:p.D90N 1. 1. 1. 1. 1. 1. 0.9999 0.9999 1 1 1 0.9998 1 1 1. 1. 1. 1. 1. rs1217381 . . . . . . . . . . . . . 0.644 0.049 T 0.001 0.067 B 0.002 0.063 B 1.000 0.080 N 1 0.090 P 0.46 0.130 N 3.61 0.045 T -0.5 0.158 N 0.004 0.000 -0.919 0.457 T 0.003 0.009 T . . . -0.188 0.077 1.163 0.209 0.008 0.017 0.053 N c -1.521 -1.509 0.999 0.396 0.601 0.348 0 -0.702 0.106 -1.635 0.021 -0.310 0.079 0.000 0.063 0.000 0.016 7.784 0.281 . . . 0.9999 0.9999 1.0000 1 1 1 0.9998 1 1 0.9999 1 1 1 1 1 0.9998 1 hom 1694.32 56 1 114424601 . C T 1694.32 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.670;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=5.5004;MQ=57.15;MQ0=0;MQRankSum=1.052;QD=30.26;ReadPosRankSum=-0.619;VQSLOD=4.6485;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,55:56:99:1727,141,0 1 114438951 114438951 A G exonic AP4B1 nonsynonymous SNV AP4B1:NM_001308312:exon5:c.T935C:p.L312S,AP4B1:NM_001253852:exon8:c.T1439C:p.L480S,AP4B1:NM_001253853:exon9:c.T1142C:p.L381S,AP4B1:NM_006594:exon9:c.T1439C:p.L480S 0.38 0.8 0.25 0.079 0.27 0.31 0.3186 0.7180 0.1612 0.0679 0.2678 0.3204 0.3411 0.3207 0.44 0.68 0.31 0.36 0.29 rs1217401 . . other not_specified RCV000145016.2 MedGen CN169374 . . . . . . 0.382 0.196 T 0.071 0.224 B 0.111 0.300 B 0.017 0.278 N 0.005 0.424 P -0.205 0.041 N 1.85 0.245 T 0.05 0.064 N 0.246 0.358 -1.051 0.141 T 0.024 0.101 T . . . 2.804 0.398 21.4 0.993 0.596 0.932 0.573 D c -0.043 0.194 1.000 0.747 0.722 0.854 0 6.04 0.980 6.278 0.724 0.233 0.259 1.000 0.715 0.993 0.574 16.588 0.845 Armadillo-like helical|Armadillo-type fold|Clathrin/coatomer adaptor\x2c adaptin-like\x2c N-terminal ENSG00000226167.1|ENSG00000134262.8|ENSG00000134262.8|ENSG00000163349.17|ENSG00000134262.8|ENSG00000226167.1|ENSG00000134262.8|ENSG00000226167.1|ENSG00000134262.8|ENSG00000134262.8|ENSG00000226167.1|ENSG00000134262.8 Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Esophagus_Mucosa|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood 0.3032 0.7218 0.1696 0.4093 0.0606 0.2724 0.3150 0.3076 0.3212 0.4044 0.702 0.2213 0.4233 0.0475 0.2639 0.3195 0.3041 hom 6860.60 227 1 114438951 . A G 6860.60 Mask AC=2;AF=1.00;AN=2;DP=227;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2408;MQ=59.57;MQ0=0;QD=30.22;VQSLOD=8.7594;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,227:227:99:6859,578,0 1 114515717 114515717 G A exonic HIPK1 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 0.49 0.55 0.44 0.52 0.43 0.46 0.4156 0.5118 0.3546 0.4866 0.3653 0.4040 0.4284 0.4355 0.45 0.51 0.42 0.45 0.43 rs2358996 COSM5619028;COSM4142169 1(breast);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4148 0.5161 0.3655 0.5144 0.4873 0.3598 0.4049 0.4037 0.4210 0.4268 0.5143 0.3645 0.46 0.4988 0.3446 0.3933 0.3799 hom 7600.76 235 1 114515717 . G A 7600.76 Mask AC=2;AF=1.00;AN=2;DP=235;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4600;MQ=59.30;MQ0=0;QD=32.34;VQSLOD=6.8476;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,234:235:99:7599,632,0 1 114948281 114948281 A G exonic TRIM33 nonsynonymous SNV TRIM33:NM_015906:exon15:c.T2519C:p.I840T,TRIM33:NM_033020:exon15:c.T2519C:p.I840T 0.86 0.98 0.8 0.58 0.94 0.93 0.8921 0.9709 0.7596 0.6074 0.9661 0.9250 0.8866 0.9223 0.94 0.97 0.93 0.89 0.95 rs6537825 COSM3735916 1(skin) . . . . . Autism 0.71 . 24189344 rs6537825 3E-8 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.000 0.523 N 1.000 0.090 P -1.955 0.002 N -0.55 0.711 T 2.34 0.003 N 0.075 0.278 -1.066 0.103 T 0.039 0.168 T . . . 0.726 0.163 8.995 0.298 0.016 0.200 0.207 N c -0.780 -0.504 0.901 0.260 0.707 0.730 0 4.35 0.513 3.042 0.493 0.104 0.200 1.000 0.715 0.993 0.574 10.725 0.451 . ENSG00000175984.10 Whole_Blood 0.8860 0.9722 0.7732 0.8890 0.5970 0.9648 0.9275 0.8844 0.9200 0.9250 0.9707 0.8266 0.87 0.5813 0.9674 0.9320 0.9265 hom 4629.03 141 1 114948281 . A G 4629.03 Mask AC=2;AF=1.00;AN=2;DP=141;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9945;MQ=59.87;MQ0=0;QD=32.83;VQSLOD=9.3536;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:0,141:141:99:4629,364,0 1 115168097 115168097 T C exonic DENND2C nonsynonymous SNV DENND2C:NM_198459:exon2:c.A509G:p.D170G,DENND2C:NM_001256404:exon4:c.A509G:p.D170G 0.13 0.02 0.18 0.087 0.29 0.1 0.2270 0.0591 0.1964 0.1053 0.2903 0.2912 0.2081 0.1315 0.22 0.072 0.3 0.12 0.25 rs12136548 COSM3735917;COSM3735918 1(pancreas);1(skin);1(large_intestine) . . . . . . . . . . . 0.412 0.114 T 0.0 0.026 B 0.0 0.013 B 0.061 0.021 N 0.953 0.264 P 0.145 0.088 N 3.78 0.414 T -0.81 0.273 N 0.01 0.012 -1.059 0.120 T 0.011 0.043 T . . . -0.130 0.082 1.520 0.874 0.166 0.166 0.193 N c -0.786 -0.608 0.006 0.111 0.554 0.246 0 -1.64 0.078 0.288 0.186 1.061 0.807 0.998 0.411 0.997 0.653 1.447 0.022 . . . 0.2269 0.0552 0.1951 0.1611 0.1028 0.2915 0.2972 0.2439 0.1335 0.2102 0.0652 0.2017 0.1623 0.1074 0.2912 0.2860 0.2459 hom 1837.37 56 1 115168097 . T C 1837.37 Mask AC=2;AF=1.00;AN=2;DP=56;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.7340;MQ=58.92;MQ0=0;QD=32.81;VQSLOD=9.7032;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,56:56:99:1870,144,0 1 115417175 115417175 A G exonic SYCP1 nonsynonymous SNV SYCP1:NM_001282541:exon9:c.A647G:p.N216S,SYCP1:NM_001282542:exon9:c.A647G:p.N216S,SYCP1:NM_003176:exon9:c.A647G:p.N216S 0.0066 . 0.016 . 0.022 . 0.0126 0.0035 0.0068 0.0001 0.0070 0.0198 0.0132 0.0019 0.017 0.0041 0.023 . 0.025 rs61730057 . . . . . . . . . . . . . 0.374 0.117 T 0.024 0.178 B 0.033 0.210 B 0.002 0.388 N 0.999 0.216 N 1.025 0.256 L 0.57 0.544 T -1.1 0.344 N 0.006 0.005 -0.995 0.312 T 0.032 0.136 T . . . 1.359 0.227 12.57 0.983 0.398 0.634 0.318 D c -0.447 -0.283 0.000 0.038 0.487 0.133 0 2.73 0.311 1.628 0.364 0.237 0.263 1.000 0.715 0.998 0.697 6.583 0.217 . . . 0.0123 0.0028 0.0072 0.0155 0.0001 0.0075 0.0201 0.0112 0.0016 0.0109 0.0029 0.0155 0.0132 0 0.0057 0.0177 0.0092 het 2234.55 174 1 115417175 . A G 2234.55 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.688;DP=174;Dels=0.00;FS=2.720;HRun=0;HaplotypeScore=2.7591;MQ=58.52;MQ0=0;MQRankSum=-0.737;QD=12.84;ReadPosRankSum=-0.184;VQSLOD=5.3885;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:84,89:174:99:2265,0,2010 1 115576023 115576023 A G exonic TSHB nonsynonymous SNV TSHB:NM_000549:exon2:c.A40G:p.T14A 0.98 1. 0.99 1. 0.96 0.96 0.9707 0.9955 0.9929 1 0.9440 0.9645 0.9692 0.9599 0.98 0.99 0.97 0.99 0.96 rs10776792 . . Benign|Benign not_specified|Congenital_hypothyroidism RCV000242832.1|RCV000396537.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0010308:ORPHA442:190268003 . . . . . . 0.761 0.035 T 0.0 0.026 B 0.0 0.013 B 0.932 0.084 N 1 0.090 P -0.9 0.013 N 0.36 0.579 T 0.52 0.029 N 0.014 0.029 -1.039 0.176 T 0.013 0.053 T . . . -2.290 0.005 0.001 0.218 0.009 0.005 0.024 N c -1.767 -1.696 0.000 0.029 0.487 0.133 0 -1.69 0.077 0.207 0.171 -0.770 0.033 0.027 0.200 0.236 0.225 2.173 0.036 . . . 0.9710 0.9946 0.9916 0.9887 0.9999 0.9449 0.9632 0.9744 0.9612 0.9746 0.9943 0.9868 0.9934 1 0.9419 0.9681 0.9561 hom 3280 95 1 115576023 . A G 3280 Mask AC=2;AF=1.00;AN=2;DP=95;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.32;MQ0=0;QD=34.53;VQSLOD=9.9057;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,95:95:99:3280,250,0 1 115829313 115829313 G A exonic NGF nonsynonymous SNV NGF:NM_002506:exon3:c.C104T:p.A35V 0.25 0.16 0.32 0.16 0.46 0.19 0.3656 0.1881 0.3372 0.1670 0.4879 0.4453 0.3753 0.2298 0.37 0.21 0.45 0.33 0.46 rs6330 COSM3735921 7(soft_tissue);1(skin);1(large_intestine) Benign Congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers RCV000268865.1 MedGen:OMIM:Orphanet:SNOMED_CT C0020075:608654:ORPHA64752:128206006 . . . . . . 0.022 0.486 D 0.002 0.090 B 0.003 0.080 B 0.137 0.184 N 0.254 0.339 P 2.785 0.815 M 0.09 0.615 T -0.68 0.195 N 0.036 0.017 -1.002 0.295 T 0.084 0.328 T . . . 2.434 0.354 19.04 0.998 0.928 0.902 0.509 D c -0.105 0.036 0.997 0.352 0.615 0.372 0 4.45 0.532 1.788 0.381 0.998 0.613 0.988 0.363 0.994 0.587 5.893 0.180 . . . 0.3702 0.1859 0.3463 0.3894 0.1628 0.4796 0.4475 0.3873 0.2347 0.3693 0.1971 0.3580 0.4437 0.1526 0.4854 0.4621 0.4134 hom 3472.79 110 1 115829313 . G A 3472.79 Mask AC=2;AF=1.00;AN=2;DP=110;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.57;VQSLOD=14.0771;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,110:110:99:3472,289,0 1 116310967 116310967 T C exonic CASQ2 nonsynonymous SNV CASQ2:NM_001232:exon1:c.A196G:p.T66A 0.4 0.49 0.37 0.52 0.29 0.3 0.3265 0.4538 0.3635 0.5483 0.2731 0.2837 0.3040 0.2999 0.34 0.44 0.29 0.47 0.29 rs4074536 COSM1332993 2(haematopoietic_and_lymphoid_tissue);6(soft_tissue) Benign|Benign|Benign not_specified|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia RCV000037136.4|RCV000247814.1|RCV000389613.1 MedGen|MedGen|MedGen:Orphanet CN169374|CN230736|C1631597:ORPHA3286 . . . . . . 0.943 0.022 T 0.0 0.026 B 0.0 0.013 B 0.025 0.261 N 1 0.090 P -1.7 0.004 N 1.18 0.377 T 0.49 0.030 N 0.001 0.001 -0.939 0.428 T 0.006 0.022 T . . . -1.622 0.014 0.002 0.183 0.006 0.077 0.136 N c -1.332 -1.173 0.999 0.398 0.497 0.185 0 3.44 0.383 1.629 0.365 -0.462 0.055 0.308 0.252 0.003 0.074 8.620 0.328 Thioredoxin-like fold ENSG00000118729.10|ENSG00000118729.10 Artery_Coronary|Artery_Tibial 0.3281 0.4565 0.3604 0.2596 0.5498 0.2770 0.2901 0.3256 0.3019 0.3281 0.4433 0.3513 0.2583 0.5479 0.2668 0.2547 0.2912 het 3885.43 250 1 116310967 . T C 3885.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.003;DP=250;DS;Dels=0.00;FS=5.103;HRun=0;HaplotypeScore=0.9997;MQ=59.51;MQ0=0;MQRankSum=-0.453;QD=15.54;ReadPosRankSum=-0.941;VQSLOD=5.8132;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3298,0,3039 1 116534852 116534852 C T exonic SLC22A15 synonymous SNV SLC22A15:NM_018420:exon2:c.C288T:p.S96S 0.44 0.14 0.48 0.42 0.64 0.61 0.5994 0.2314 0.5207 0.4712 0.6066 0.6577 0.6051 0.6337 0.49 0.2 0.62 0.43 . rs4046190 COSM5427800;COSM5427801 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5575 0.1751 0.4725 0.6145 0.4072 0.5614 0.6338 0.5672 0.6190 0.4833 0.1955 0.5060 0.5993 0.4056 0.5638 0.6295 0.5888 het 102.86 18 1 116534852 . C T 102.86 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.899;DP=18;Dels=0.00;FS=2.884;HRun=0;HaplotypeScore=0.0000;MQ=58.71;MQ0=0;MQRankSum=0.369;QD=5.71;ReadPosRankSum=-0.264;VQSLOD=4.6704;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:12,6:18:99:133,0,356 1 116569530 116569530 G C exonic SLC22A15 synonymous SNV SLC22A15:NM_018420:exon5:c.G615C:p.L205L 0.9 0.85 0.87 0.87 0.95 0.98 0.9283 0.8637 0.8310 0.8953 0.8975 0.9505 0.9222 0.9750 0.93 0.88 0.95 0.83 . rs2488429 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9249 0.8640 0.8346 0.9761 0.8940 0.8982 0.9516 0.9396 0.9740 0.9164 0.8665 0.8854 0.9834 0.8951 0.9012 0.9512 0.9235 hom 6858.49 220 1 116569530 . G C 6858.49 Mask AC=2;AF=1.00;AN=2;DP=220;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9159;MQ=59.41;MQ0=0;QD=31.17;VQSLOD=9.2856;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,220:220:99:6858,539,0 1 116655272 116655272 C T exonic MAB21L3 synonymous SNV MAB21L3:NM_152367:exon2:c.C36T:p.C12C 0.017 0.003 0.026 . 0.055 0.0082 0.0404 0.0108 0.0114 0 0.0595 0.0599 0.0396 0.0144 0.042 0.013 0.057 0.022 0.025 rs61788520 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0395 0.0107 0.0139 0.0307 0 0.0594 0.0607 0.0387 0.0156 0.0464 0.0124 0.0239 0.0430 0 0.0555 0.0694 0.0617 het 385.47 65 1 116655272 . C T 385.47 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.594;DP=65;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.8398;MQ=58.41;MQ0=0;MQRankSum=0.728;QD=5.93;ReadPosRankSum=0.353;VQSLOD=3.5539;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:46,19:65:99:415,0,1265 1 117487710 117487710 A G exonic PTGFRN synonymous SNV PTGFRN:NM_020440:exon3:c.A828G:p.P276P 0.86 0.75 0.92 0.85 0.9 0.93 0.8916 0.7868 0.9092 0.8467 0.8411 0.9063 0.8908 0.9275 0.64 0.53 0.7 . 0.92 rs10159095 COSM3750268 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8942 0.7820 0.9112 0.9237 0.8511 0.8457 0.9096 0.8927 0.9254 0.8610 0.7812 0.8849 0.9167 0.8708 0.8477 0.9056 0.8801 hom 1943.39 60 1 117487710 . A G 1943.39 Mask AC=2;AF=1.00;AN=2;DP=60;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=58.13;MQ0=0;QD=32.39;VQSLOD=8.8598;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,60:60:99:1976,165,0 1 117487711 117487711 T A exonic PTGFRN nonsynonymous SNV PTGFRN:NM_020440:exon3:c.T829A:p.S277T 0.86 0.75 0.92 0.85 0.9 0.93 0.8916 0.7867 0.9095 0.8464 0.8410 0.9063 0.8908 0.9275 0.64 0.52 0.7 . 0.92 rs4546904 COSM3750269 1(haematopoietic_and_lymphoid_tissue);1(urinary_tract);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.000 0.629 N 1.000 0.090 P -2.28 0.001 N 3.82 0.038 T 1.76 0.005 N 0.05 0.031 -0.918 0.458 T 0.001 0.004 T . . . 1.073 0.197 11.07 0.224 0.009 0.095 0.150 N c -0.776 -0.494 0.612 0.218 0.707 0.730 0 5.49 0.809 4.223 0.581 0.181 0.247 0.998 0.411 0.906 0.385 10.223 0.422 Immunoglobulin-like domain . . 0.8942 0.7817 0.9111 0.9241 0.8511 0.8459 0.9096 0.8928 0.9254 0.8612 0.7814 0.8849 0.9167 0.8708 0.8477 0.9059 0.8793 hom 1942.37 61 1 117487711 . T A 1942.37 Mask AC=2;AF=1.00;AN=2;DP=61;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.8941;MQ=58.16;MQ0=0;QD=31.84;VQSLOD=8.4627;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,61:61:99:1975,168,0 1 117554421 117554421 A G exonic CD101 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 0.15 0.035 0.2 0.064 0.34 0.17 0.2482 0.0761 0.1506 0.0757 0.2931 0.3277 0.2671 0.1752 0.24 0.089 0.32 0.11 0.34 rs3754112 COSM1178399 1(pancreas);1(prostate) . . . . . . . . . . . 0.054 0.386 T 0.0 0.026 B 0.001 0.040 B 0.287 0.148 N 0.992 0.239 P -0.375 0.030 N -0.07 0.638 T -1.04 0.273 N 0.004 0.000 -1.082 0.069 T 0.038 0.165 T . . . -0.854 0.038 0.033 0.826 0.138 0.837 0.425 D c -1.070 -1.024 0.111 0.167 0.554 0.246 0 -2.28 0.064 0.905 0.279 -0.657 0.040 0.965 0.337 0.002 0.062 6.094 0.191 Immunoglobulin V-set domain|Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.2498 0.0698 0.1576 0.4370 0.0772 0.2917 0.3226 0.2871 0.1764 0.2291 0.0781 0.2148 0.3874 0.0611 0.2871 0.3184 0.2413 hom 2148.41 70 1 117554421 . A G 2148.41 Mask AC=2;AF=1.00;AN=2;DP=70;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9665;MQ=59.73;MQ0=0;QD=30.69;VQSLOD=9.1219;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,70:70:99:2181,169,0 1 117559726 117559726 A G exonic CD101 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 0.94 0.97 0.96 0.85 0.96 0.94 0.9518 0.9712 0.9412 0.8401 0.9072 0.9709 0.9438 0.9463 0.98 0.97 0.98 0.92 0.96 rs2249265 COSM4415811 1(haematopoietic_and_lymphoid_tissue);1(large_intestine) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.681 0.102 N 1 0.090 P -1.6 0.004 N -0.1 0.643 T 1.3 0.010 N 0.013 0.007 -1.053 0.135 T 0.011 0.039 T . . . -3.288 0.001 0.001 0.478 0.039 0.003 0.017 N c -2.239 -2.220 1.000 0.747 0.554 0.246 0 -8.2 0.009 -1.528 0.023 -2.023 0.005 0.000 0.063 0.000 0.016 1.287 0.019 Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin-like fold . . 0.9511 0.9696 0.9472 0.9733 0.8412 0.9108 0.9742 0.9539 0.9462 0.9573 0.9718 0.9368 0.9768 0.8728 0.9118 0.9705 0.9398 hom 4946.89 170 1 117559726 . A G 4946.89 Mask AC=2;AF=1.00;AN=2;DP=170;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=58.95;MQ0=0;QD=29.10;VQSLOD=8.9255;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,170:170:99:4946,409,0 1 117617705 117617705 A G exonic TTF2 nonsynonymous SNV TTF2:NM_003594:exon5:c.A499G:p.K167E 0.51 0.12 0.67 0.77 0.59 0.6 0.5755 0.1880 0.6958 0.7424 0.5256 0.5953 0.5793 0.5861 0.47 0.21 0.6 0.41 0.56 rs998532 COSM3750274 1(large_intestine) . . . . . . . . . . . 0.12 0.279 T 0.006 0.282 B 0.004 0.256 B 0.018 0.275 N 1 0.090 P 1.905 0.510 L -2.32 0.878 D -0.46 0.150 N 0.078 0.069 -0.932 0.438 T 0.224 0.588 T . . . -0.398 0.062 0.390 0.923 0.211 0.670 0.330 D c -0.735 -0.719 0.118 0.168 0.707 0.730 0 0.438 0.157 0.235 0.176 0.230 0.258 0.925 0.319 0.011 0.114 5.315 0.151 . . . 0.5865 0.1771 0.6854 0.6633 0.7487 0.5147 0.5947 0.6002 0.5862 0.4722 0.1978 0.6591 0.6821 0.7391 0.5129 0.5737 0.5514 het 1577.50 126 1 117617705 . A G 1577.50 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.019;DP=126;Dels=0.00;FS=2.279;HRun=1;HaplotypeScore=2.4328;MQ=59.82;MQ0=0;MQRankSum=-0.510;QD=12.52;ReadPosRankSum=0.784;VQSLOD=6.4078;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:69,57:126:99:1607,0,1814 1 117618067 117618067 C T exonic TTF2 synonymous SNV TTF2:NM_003594:exon5:c.C861T:p.N287N 0.51 0.11 0.67 0.77 0.59 0.6 0.5747 0.1845 0.6942 0.7417 0.5254 0.5950 0.5795 0.5855 0.47 0.2 0.6 0.41 0.52 rs1289673 COSM3750275 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5858 0.1738 0.6837 0.6632 0.7478 0.5145 0.5944 0.6004 0.5858 0.4713 0.1954 0.6567 0.6821 0.7376 0.5129 0.5739 0.5519 het 2334.90 152 1 117618067 . C T 2334.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.986;DP=152;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.2762;MQ=59.08;MQ0=0;MQRankSum=0.367;QD=15.36;ReadPosRankSum=1.054;VQSLOD=5.8312;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:67,85:152:99:2365,0,1881 1 117635413 117635413 A G exonic TTF2 nonsynonymous SNV TTF2:NM_003594:exon18:c.A2866G:p.S956G 0.0088 . 0.0072 . 0.024 0.015 0.0173 0.0034 0.0041 0.0003 0.0278 0.0239 0.0176 0.0131 0.019 0.0036 0.026 0.022 0.016 rs80076283 . . . . . . . . . . . . . 0.14 0.256 T 0.09 0.236 B 0.021 0.181 B 0.013 0.290 N 0.590 0.324 D 2.31 0.663 M -0.96 0.756 T -2.14 0.485 N 0.042 0.022 -1.025 0.220 T 0.151 0.479 T . . . 0.900 0.180 10.07 0.987 0.445 0.831 0.420 D c -0.396 -0.365 1.000 0.747 0.731 0.878 0 1.51 0.220 2.175 0.419 1.088 0.866 1.000 0.715 0.884 0.371 6.575 0.216 . . . 0.0168 0.0041 0.0047 0.0030 0.0002 0.0291 0.0246 0.0131 0.0133 0.0209 0.0057 0.0072 0.0033 0 0.0338 0.0298 0.0244 het 2848.26 211 1 117635413 . A G 2848.26 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.436;DP=211;DS;Dels=0.00;FS=1.072;HRun=1;HaplotypeScore=4.6143;MQ=58.96;MQ0=0;MQRankSum=1.123;QD=13.50;ReadPosRankSum=-1.094;VQSLOD=5.3495;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:101,110:211:99:2878,0,2913 1 117656088 117656088 A G exonic TRIM45 nonsynonymous SNV TRIM45:NM_001145635:exon5:c.T1433C:p.M478T,TRIM45:NM_025188:exon5:c.T1487C:p.M496T 0.45 0.68 0.48 0.19 0.44 0.38 0.4145 0.6391 0.4229 0.2104 0.3705 0.4147 0.4249 0.3903 0.48 0.62 0.4 0.41 0.45 rs1289658 COSM5351791 1(kidney) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B 0.096 0.201 N 1.000 0.090 P -1.625 0.004 N 2.08 0.394 T 0.94 0.019 N 0.024 0.396 -0.960 0.391 T 0.009 0.031 T . . . -0.229 0.074 0.952 0.184 0.006 0.030 0.077 N c -1.203 -1.034 0.998 0.364 0.646 0.442 0 3.99 0.454 0.049 0.139 0.076 0.183 0.008 0.178 0.103 0.190 3.883 0.085 Immunoglobulin E-set|Immunoglobulin-like fold ENSG00000134253.5|ENSG00000134258.12 Brain_Cerebellum|Heart_Left_Ventricle 0.4088 0.6407 0.4285 0.3638 0.2124 0.3745 0.4183 0.4061 0.3876 0.4629 0.6322 0.4222 0.37 0.2355 0.3597 0.4192 0.4303 hom 2763.49 88 1 117656088 . A G 2763.49 Mask AC=2;AF=1.00;AN=2;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.05;MQ0=0;QD=31.40;VQSLOD=9.4976;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,88:88:99:2796,229,0 1 117660754 117660754 C T exonic TRIM45 nonsynonymous SNV TRIM45:NM_001145635:exon2:c.G1124A:p.C375Y,TRIM45:NM_025188:exon2:c.G1124A:p.C375Y 0.22 0.21 0.37 0.033 0.35 0.21 0.2936 0.2257 0.3653 0.0312 0.3153 0.3395 0.3117 0.2283 0.3 0.23 0.33 0.22 0.36 rs749902 . . . . . . . . . . . . . 1.0 0.010 T 0.001 0.067 B 0.0 0.013 B 0.241 0.157 N 0.998 0.221 P 0 0.065 N -1.38 0.818 T 0.09 0.102 N 0.073 0.062 -1.099 0.042 T 0.081 0.321 T . . . -1.255 0.023 0.005 0.273 0.013 0.901 0.507 D c -1.017 -0.873 1.000 0.408 0.672 0.522 0 0.722 0.173 1.401 0.340 0.103 0.200 0.991 0.370 0.937 0.410 5.400 0.155 . ENSG00000134253.5|ENSG00000134258.12|ENSG00000134253.5 Brain_Cerebellum|Heart_Left_Ventricle|Thyroid 0.2969 0.2269 0.3697 0.2708 0.0310 0.3249 0.3417 0.3088 0.2249 0.2896 0.2333 0.3377 0.2649 0.0358 0.3057 0.3412 0.3296 hom 5320.10 177 1 117660754 . C T 5320.10 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.732;DP=177;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.4646;MQ=58.81;MQ0=0;MQRankSum=1.713;QD=30.06;ReadPosRankSum=1.497;VQSLOD=5.7228;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,176:177:99:5319,427,0 1 118166096 118166096 C T exonic FAM46C synonymous SNV FAM46C:NM_017709:exon2:c.C606T:p.I202I 0.13 0.016 0.22 0.11 0.16 0.22 0.1704 0.0379 0.2413 0.0886 0.1561 0.1733 0.1869 0.2395 0.13 0.048 0.17 0.13 0.11 rs2884587 COSM4415255 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1779 0.0352 0.2508 0.2108 0.0883 0.1600 0.1728 0.1827 0.2394 0.1255 0.0389 0.2064 0.1921 0.0888 0.1590 0.1635 0.1680 het 2326.64 195 1 118166096 . C T 2326.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.652;DP=195;DS;Dels=0.00;FS=2.549;HRun=1;HaplotypeScore=6.3153;MQ=59.57;MQ0=0;MQRankSum=0.320;QD=11.93;ReadPosRankSum=0.458;VQSLOD=4.9480;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:107,88:195:99:2357,0,2903 1 118482149 118482149 C T exonic WDR3 nonsynonymous SNV WDR3:NM_006784:exon6:c.C629T:p.A210V 0.025 0.0038 0.04 . 0.086 0.0051 0.0554 0.0133 0.0289 0 0.1044 0.0789 0.0650 0.0146 0.059 0.016 0.081 0.054 0.098 rs34973445 COSM3747505 1(pancreas);1(liver) . . . . . . . . . . . 0.101 0.303 T 0.015 0.158 B 0.051 0.240 B 0.005 0.329 N 1 0.810 D 2.785 0.815 M 0.14 0.609 T -2.11 0.480 N 0.148 0.175 -0.692 0.608 T 0.184 0.534 T . . . 3.714 0.503 23.3 0.997 0.772 0.945 0.611 D c 0.178 0.260 1.000 0.489 0.732 0.924 0 5.0 0.661 5.643 0.673 0.852 0.362 0.912 0.315 0.987 0.523 15.762 0.778 WD40 repeat\x2c conserved site|WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain . . 0.0578 0.0124 0.0344 0.0567 0 0.1060 0.0814 0.0700 0.0157 0.0598 0.0135 0.0480 0.0596 0.0006 0.1040 0.0831 0.0653 het 1751.98 150 1 118482149 . C T 1751.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.510;DP=150;Dels=0.00;FS=3.003;HRun=0;HaplotypeScore=9.3991;MQ=59.66;MQ0=0;MQRankSum=0.359;QD=11.68;ReadPosRankSum=-0.591;VQSLOD=3.6119;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:72,76:150:99:1782,0,1715 1 118693217 118693217 T C exonic SPAG17 synonymous SNV SPAG17:NM_206996:exon3:c.A264G:p.S88S 0.23 0.013 0.35 0.4 0.24 0.24 0.2430 0.0423 0.4596 0.3825 0.2637 0.2201 0.2544 0.2246 0.16 0.049 0.22 0.25 0.17 rs1935992 COSM423590 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2512 0.0343 0.4322 0.3011 0.3710 0.2686 0.2118 0.2646 0.2190 0.1915 0.0451 0.3747 0.2848 0.3990 0.2747 0.2199 0.2398 hom 1855.82 73 1 118693217 . T C 1855.82 Mask AC=2;AF=1.00;AN=2;DP=73;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.7887;MQ=58.10;MQ0=0;QD=25.42;VQSLOD=7.0821;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,73:73:99:1889,144,0 1 119923724 119923724 T C exonic HAO2 synonymous SNV HAO2:NM_016527:exon2:c.T16C:p.L6L,HAO2:NM_001005783:exon3:c.T55C:p.L19L 0.36 0.082 0.52 0.45 0.53 0.34 0.4834 0.1409 0.6231 0.4624 0.5885 0.5295 0.4570 0.3855 0.4 0.19 0.52 0.35 0.57 rs2275607 COSM3747508;COSM5426259 1(breast);2(haematopoietic_and_lymphoid_tissue);1(liver) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4923 0.1293 0.6103 0.3996 0.4635 0.5813 0.5308 0.4980 0.3854 0.4380 0.1464 0.5692 0.4333 0.4639 0.5904 0.5548 0.55 hom 7897.24 249 1 119923724 . T C 7897.24 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7825;MQ=59.50;MQ0=0;QD=31.72;VQSLOD=9.1335;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7896,611,0 1 120057158 120057158 C T exonic HSD3B1 synonymous SNV HSD3B1:NM_000862:exon4:c.C1012T:p.L338L,HSD3B1:NM_001328615:exon4:c.C1012T:p.L338L 0.37 0.033 0.48 0.65 0.43 0.38 0.4388 0.0873 0.5811 0.6688 0.5474 0.4353 0.4636 0.4103 0.32 0.1 0.43 0.32 0.46 rs6203 COSM3747510 1(liver);1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4522 0.0799 0.5711 0.3555 0.6737 0.5395 0.4361 0.4513 0.4100 0.3701 0.0963 0.5431 0.3841 0.6566 0.5444 0.4424 0.4602 hom 4125.05 122 1 120057158 . C T 4125.05 Mask AC=2;AF=1.00;AN=2;DP=122;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.9995;MQ=58.11;MQ0=0;QD=33.81;VQSLOD=8.5323;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,122:122:99:4124,334,0 1 120057246 120057246 C A exonic HSD3B1 nonsynonymous SNV HSD3B1:NM_000862:exon4:c.C1100A:p.T367N,HSD3B1:NM_001328615:exon4:c.C1100A:p.T367N 0.83 0.91 0.8 0.92 0.66 0.84 0.7554 0.8897 0.8599 0.9376 0.7499 0.6797 0.7322 0.8118 0.75 0.88 0.68 0.79 0.66 rs1047303 COSM3747511 1(liver);1(large_intestine) . . . . . . . . . . . 0.303 0.143 T 0.01 0.172 B 0.022 0.193 B 0.233 0.035 N 1 0.090 P 2.52 0.738 M -0.58 0.714 T -1.11 0.287 N 0.023 0.010 -1.061 0.114 T 0.151 0.479 T . . . -1.422 0.019 0.003 0.264 0.013 0.023 0.066 N c -1.379 -1.470 0.000 0.029 0.487 0.133 0 -0.043 0.131 -0.311 0.081 -2.891 0.002 0.000 0.063 0.000 0.016 4.839 0.128 . . . 0.7546 0.8936 0.8508 0.6642 0.9389 0.7426 0.6743 0.7225 0.8103 0.7697 0.8843 0.8141 0.6887 0.9312 0.7460 0.6915 0.7485 hom 1476.30 51 1 120057246 . C A 1476.30 Mask AC=2;AF=1.00;AN=2;DP=51;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8924;MQ=48.85;MQ0=3;QD=28.95;VQSLOD=3.0073;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:3,48:51:99:1509,132,0 1 120166681 120166681 G A exonic ZNF697 synonymous SNV ZNF697:NM_001080470:exon3:c.C285T:p.S95S 0.67 0.79 0.59 0.78 0.5 0.64 0.5715 0.7843 0.5879 0.8096 0.5402 0.4927 0.5594 0.6407 0.58 0.76 0.49 0.67 . rs12067843 COSM3750292;COSM3750291 1(thyroid);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5654 0.7804 0.5902 0.4607 0.8079 0.5354 0.4916 0.5296 0.6258 0.6000 0.7687 0.5742 0.46 0.8100 0.5507 0.4984 0.5479 het 828.57 68 1 120166681 . G A 828.57 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.319;DP=68;Dels=0.00;FS=0.924;HRun=0;HaplotypeScore=2.6490;MQ=59.11;MQ0=0;MQRankSum=2.111;QD=12.18;ReadPosRankSum=-0.515;VQSLOD=5.8115;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:35,33:68:99:859,0,839 1 120285546 120285546 G A exonic PHGDH synonymous SNV PHGDH:NM_006623:exon11:c.G1326A:p.T442T 0.72 0.77 0.75 0.62 0.67 0.8 0.6924 0.7533 0.6752 0.6049 0.5797 0.6808 0.7064 0.8029 0.71 0.75 0.68 0.77 0.48 rs543703 COSM3930297;COSM1747675 2(urinary_tract);1(thyroid) Benign Phosphoglycerate_dehydrogenase_deficiency RCV000331261.1 MedGen:OMIM C1866174:601815 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6901 0.7533 0.6842 0.7946 0.6033 0.5731 0.6790 0.6999 0.8040 0.6801 0.7588 0.6814 0.7980 0.5975 0.5793 0.6644 0.6786 hom 4269.02 127 1 120285546 . G A 4269.02 Mask AC=2;AF=1.00;AN=2;DP=127;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9979;MQ=59.64;MQ0=0;QD=33.61;VQSLOD=9.7625;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,127:127:99:4269,349,0 1 120378678 120378678 C T exonic NBPF7 synonymous SNV NBPF7:NM_001047980:exon7:c.G1068A:p.Q356Q 0.63 0.41 0.71 0.47 0.81 0.84 0.7508 0.4449 0.7527 0.4558 0.8238 0.8003 0.7911 0.8532 0.69 0.48 0.79 0.64 0.84 rs3009182 COSM3996786 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7530 0.4392 0.7450 0.7879 0.4584 0.8185 0.7991 0.7864 0.8506 0.6787 0.4433 0.7356 0.7881 0.4560 0.8245 0.7931 0.7837 hom 4148.69 126 1 120378678 . C T 4148.69 Mask AC=2;AF=1.00;AN=2;DP=126;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8997;MQ=59.04;MQ0=0;QD=32.93;VQSLOD=9.1529;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,126:126:99:4148,322,0 1 120384205 120384205 A G exonic NBPF7 synonymous SNV NBPF7:NM_001047980:exon3:c.T357C:p.V119V 0.62 0.4 0.71 0.47 0.81 0.84 0.7496 0.4393 0.7530 0.4575 0.8236 0.8007 0.7914 0.8530 0.68 0.45 0.79 0.087 0.84 rs2994820 COSM3996787 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7525 0.4295 0.7453 0.7883 0.4590 0.8182 0.7995 0.7860 0.8504 0.6769 0.4361 0.7327 0.7914 0.4555 0.8240 0.7938 0.7844 hom 8061.98 241 1 120384205 . A G 8061.98 Mask AC=2;AF=1.00;AN=2;DP=241;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.30;MQ0=0;QD=33.45;VQSLOD=8.6232;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,241:241:99:8061,635,0 1 120387120 120387120 G A exonic NBPF7 synonymous SNV NBPF7:NM_001047980:exon1:c.C39T:p.T13T 0.36 0.042 0.48 0.36 0.58 0.46 0.5077 0.1062 0.4610 0.3709 0.5219 0.5857 0.5509 0.5240 0.42 0.12 0.57 0.18 0.58 rs12405228 COSM4416125 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5118 0.0962 0.4696 0.6437 0.3731 0.5215 0.5835 0.5544 0.5247 0.4174 0.1157 0.4868 0.6291 0.3702 0.5206 0.5595 0.5214 hom 5800.55 172 1 120387120 . G A 5800.55 Mask AC=2;AF=1.00;AN=2;DP=172;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.5564;MQ=58.95;MQ0=0;QD=33.72;VQSLOD=9.0591;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,172:172:99:5800,445,0 1 120436787 120436787 G A exonic ADAM30 synonymous SNV ADAM30:NM_021794:exon1:c.C2173T:p.L725L . . . . . . 4.121e-05 0 8.637e-05 0 0 5.995e-05 0 0 0.0001 . 0.0001 . . rs375307271 COSM5968763 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4.481e-05 0 5.977e-05 0 0 0 8.074e-05 0 0 . . . . . . . . het 1869.98 175 1 120436787 . G A 1869.98 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.683;DP=175;DS;Dels=0.00;FS=1.406;HRun=1;HaplotypeScore=6.8202;MQ=58.97;MQ0=0;MQRankSum=-0.107;QD=10.69;ReadPosRankSum=0.371;VQSLOD=3.1701;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:102,73:175:99:1900,0,2729 1 120612003 120612004 GG - exonic NOTCH2 frameshift deletion NOTCH2:NM_001200001:exon1:c.17_18del:p.P6Rfs*25,NOTCH2:NM_024408:exon1:c.17_18del:p.P6Rfs*26 . . . . . . 0.4057 0.4075 0.4190 0.3707 0.3725 0.4018 0.3892 0.4387 . . . . . rs372504208 COSM132830 3(breast);2(NS);1(haematopoietic_and_lymphoid_tissue);1(stomach);1(kidney);2(urinary_tract);1(pancreas);3(oesophagus);1(skin);1(lung);2(upper_aerodigestive_tract);2(large_intestine);2(central_nervous_system) Benign not_specified RCV000202675.2 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1800 0.2102 0.1169 0.1379 0.1142 0.2665 0.2152 0.1264 0.1600 0.0832 0.1426 0.0356 0.0893 0.0528 0.0095 0.0877 0.0616 het 135.54 15 1 120612002 . CGG C 135.54 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.184;DP=15;FS=2.363;HRun=4;HaplotypeScore=111.2955;MQ=40.77;MQ0=1;MQRankSum=-1.041;QD=7.97;ReadPosRankSum=-0.674;set=variant2 GT:AD:DP:GQ:PL 0/1:12,5:15:99:175,0,363 1 144865850 144865850 G T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon31:c.C6216A:p.D2072E,PDE4DIP:NM_001198834:exon35:c.C5730A:p.D1910E,PDE4DIP:NM_014644:exon35:c.C5730A:p.D1910E,PDE4DIP:NM_001198832:exon37:c.C5412A:p.D1804E,PDE4DIP:NM_001350523:exon37:c.C5409A:p.D1803E,PDE4DIP:NM_001350521:exon38:c.C6141A:p.D2047E,PDE4DIP:NM_001350522:exon38:c.C5928A:p.D1976E . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.5 rs1613780 COSM4590805;COSM4590806;COSM4590804 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2765.10 250 1 144865850 . G T 2765.10 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.316;DP=250;DS;Dels=0.00;FS=0.472;HRun=2;HaplotypeScore=6.7434;MQ=58.06;MQ0=0;MQRankSum=-2.273;QD=11.06;ReadPosRankSum=-0.073;VQSLOD=2.5012;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:150,100:250:99:2795,0,4662 1 144866643 144866643 G A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon30:c.C6085T:p.R2029C,PDE4DIP:NM_001198834:exon34:c.C5599T:p.R1867C,PDE4DIP:NM_014644:exon34:c.C5599T:p.R1867C,PDE4DIP:NM_001198832:exon36:c.C5281T:p.R1761C,PDE4DIP:NM_001350523:exon36:c.C5278T:p.R1760C,PDE4DIP:NM_001350521:exon37:c.C6010T:p.R2004C,PDE4DIP:NM_001350522:exon37:c.C5797T:p.R1933C . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.292 -0.330 1.000 0.500 0.563 0.310 0 2.24 0.271 1.345 0.333 0.024 0.147 1.000 0.715 0.868 0.363 6.287 0.201 . . . . . . . . . . . . . . . . . . . . het 3041.85 241 1 144866643 . G A 3041.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.878;DP=241;DS;Dels=0.00;FS=0.505;HRun=0;HaplotypeScore=1.8930;MQ=58.70;MQ0=0;MQRankSum=2.374;QD=12.62;ReadPosRankSum=-0.577;VQSLOD=4.9514;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:134,107:241:99:3072,0,3528 1 144866662 144866662 T C exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon30:c.A6066G:p.E2022E,PDE4DIP:NM_001198834:exon34:c.A5580G:p.E1860E,PDE4DIP:NM_014644:exon34:c.A5580G:p.E1860E,PDE4DIP:NM_001198832:exon36:c.A5262G:p.E1754E,PDE4DIP:NM_001350523:exon36:c.A5259G:p.E1753E,PDE4DIP:NM_001350521:exon37:c.A5991G:p.E1997E,PDE4DIP:NM_001350522:exon37:c.A5778G:p.E1926E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.155 -0.125 1.000 0.423 0.563 0.310 0 2.05 0.257 1.112 0.306 0.076 0.183 1.000 0.715 1.000 0.888 6.847 0.230 . . . . . . . . . . . . . . . . . . . . het 2848.48 231 1 144866662 . T C 2848.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.013;DP=231;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.4130;MQ=59.11;MQ0=0;MQRankSum=0.422;QD=12.33;ReadPosRankSum=0.143;VQSLOD=4.4236;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:126,105:231:99:2878,0,3376 1 144868170 144868170 C T exonic;splicing PDE4DIP;LOC100996724 NR_144517:exon32:c.5686-1G>A nonsynonymous SNV PDE4DIP:NM_001350520:exon29:c.G5755A:p.A1919T,PDE4DIP:NM_001198834:exon33:c.G5269A:p.A1757T,PDE4DIP:NM_014644:exon33:c.G5269A:p.A1757T,PDE4DIP:NM_001198832:exon35:c.G4951A:p.A1651T,PDE4DIP:NM_001350523:exon35:c.G4948A:p.A1650T,PDE4DIP:NM_001350521:exon36:c.G5680A:p.A1894T,PDE4DIP:NM_001350522:exon36:c.G5467A:p.A1823T . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.5 rs1628310 COSM4591253;COSM4591251;COSM4591252 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 1598.70 119 1 144868170 . C T 1598.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.250;DP=119;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2866;MQ=58.77;MQ0=0;MQRankSum=0.653;QD=13.43;ReadPosRankSum=-0.254;VQSLOD=4.8313;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:55,64:119:99:1629,0,1558 1 144871738 144871738 C A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon28:c.G5710T:p.A1904S,PDE4DIP:NM_001198834:exon32:c.G5224T:p.A1742S,PDE4DIP:NM_014644:exon32:c.G5224T:p.A1742S,PDE4DIP:NM_001350521:exon35:c.G5635T:p.A1879S,PDE4DIP:NM_001350522:exon35:c.G5422T:p.A1808S . . . . . . 0.5000 0.5 0.5 0.4998 0.5 0.5 0.5 0.5 . . . 0.46 0.46 rs1698605 COSM4591246;COSM4591247 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2624.09 249 1 144871738 . C A 2624.09 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-10.518;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9096;MQ=59.50;MQ0=0;MQRankSum=-0.531;QD=10.54;ReadPosRankSum=-2.530;VQSLOD=4.0743;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:142,107:249:99:2654,0,4016 1 144871755 144871755 A T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon28:c.T5693A:p.V1898E,PDE4DIP:NM_001198834:exon32:c.T5207A:p.V1736E,PDE4DIP:NM_014644:exon32:c.T5207A:p.V1736E,PDE4DIP:NM_001350521:exon35:c.T5618A:p.V1873E,PDE4DIP:NM_001350522:exon35:c.T5405A:p.V1802E . . . . . . 0.5000 0.5 0.5 0.4998 0.5 0.5000 0.5 0.5 . . . 0.47 0.48 rs1778159 COSM4591750;COSM4591751 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2288.37 236 1 144871755 . A T 2288.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.639;DP=236;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.4750;MQ=59.48;MQ0=0;MQRankSum=1.281;QD=9.70;ReadPosRankSum=0.838;VQSLOD=5.5218;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:147,89:236:99:2318,0,4059 1 144871782 144871782 A G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon28:c.T5666C:p.L1889P,PDE4DIP:NM_001198834:exon32:c.T5180C:p.L1727P,PDE4DIP:NM_014644:exon32:c.T5180C:p.L1727P,PDE4DIP:NM_001350521:exon35:c.T5591C:p.L1864P,PDE4DIP:NM_001350522:exon35:c.T5378C:p.L1793P . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.42 0.49 rs1778158 COSM4591746;COSM4591747 23(upper_aerodigestive_tract);1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2552.48 223 1 144871782 . A G 2552.48 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.964;DP=223;DS;Dels=0.00;FS=1.099;HRun=2;HaplotypeScore=5.6287;MQ=59.26;MQ0=0;MQRankSum=0.326;QD=11.45;ReadPosRankSum=0.512;VQSLOD=4.6346;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:128,95:223:99:2582,0,3657 1 144873887 144873887 C T exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon27:c.G5556A:p.Q1852Q,PDE4DIP:NM_001198834:exon31:c.G5070A:p.Q1690Q,PDE4DIP:NM_014644:exon31:c.G5070A:p.Q1690Q,PDE4DIP:NM_001198832:exon34:c.G4938A:p.Q1646Q,PDE4DIP:NM_001350521:exon34:c.G5481A:p.Q1827Q,PDE4DIP:NM_001350522:exon34:c.G5268A:p.Q1756Q,PDE4DIP:NM_001350523:exon34:c.G4935A:p.Q1645Q . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.51 rs1699787 COSM4594994;COSM4594995;COSM4594996 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4508.49 250 1 144873887 . C T 4508.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.963;DP=250;DS;Dels=0.00;FS=3.213;HRun=1;HaplotypeScore=6.5547;MQ=58.43;MQ0=0;MQRankSum=0.183;QD=18.03;ReadPosRankSum=0.284;VQSLOD=3.3433;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:122,128:250:99:3819,0,3560 1 144874760 144874760 T C exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon26:c.A5334G:p.E1778E,PDE4DIP:NM_001198834:exon30:c.A4848G:p.E1616E,PDE4DIP:NM_014644:exon30:c.A4848G:p.E1616E,PDE4DIP:NM_001198832:exon33:c.A4716G:p.E1572E,PDE4DIP:NM_001350521:exon33:c.A5259G:p.E1753E,PDE4DIP:NM_001350522:exon33:c.A5046G:p.E1682E,PDE4DIP:NM_001350523:exon33:c.A4713G:p.E1571E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.320 0.052 1.000 0.517 0.563 0.310 0 2.86 0.323 0.876 0.275 -0.391 0.064 0.995 0.385 0.991 0.552 11.23 0.479 Neuroblastoma breakpoint family (NBPF) domain . . . . . . . . . . . . . . . . . . . het 4180.60 250 1 144874760 . T C 4180.60 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.716;DP=250;DS;Dels=0.00;FS=2.895;HRun=0;HaplotypeScore=4.4157;MQ=59.39;MQ0=0;MQRankSum=-0.114;QD=16.72;ReadPosRankSum=0.484;VQSLOD=4.6538;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3469,0,3888 1 144874815 144874815 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon26:c.A5279G:p.H1760R,PDE4DIP:NM_001198834:exon30:c.A4793G:p.H1598R,PDE4DIP:NM_014644:exon30:c.A4793G:p.H1598R,PDE4DIP:NM_001198832:exon33:c.A4661G:p.H1554R,PDE4DIP:NM_001350521:exon33:c.A5204G:p.H1735R,PDE4DIP:NM_001350522:exon33:c.A4991G:p.H1664R,PDE4DIP:NM_001350523:exon33:c.A4658G:p.H1553R . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -1.261 -1.284 1.000 0.747 0.661 0.498 0 -6.68 0.016 -0.002 0.128 -1.466 0.011 0.001 0.137 0.372 0.250 16.709 0.852 Neuroblastoma breakpoint family (NBPF) domain . . . . . . . . . . . . . . . . . . . het 2031.12 233 1 144874815 . T C 2031.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.270;DP=233;DS;Dels=0.00;FS=2.756;HRun=0;HaplotypeScore=6.1456;MQ=59.46;MQ0=0;MQRankSum=1.155;QD=8.72;ReadPosRankSum=-1.070;VQSLOD=3.4582;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:147,86:233:99:2061,0,4500 1 144879090 144879090 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.A4846G:p.K1616E,PDE4DIP:NM_001198834:exon27:c.A4360G:p.K1454E,PDE4DIP:NM_014644:exon27:c.A4360G:p.K1454E,PDE4DIP:NM_001198832:exon30:c.A4228G:p.K1410E,PDE4DIP:NM_001350521:exon30:c.A4771G:p.K1591E,PDE4DIP:NM_001350522:exon30:c.A4558G:p.K1520E,PDE4DIP:NM_001350523:exon30:c.A4225G:p.K1409E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c 0.265 0.222 1.000 0.747 0.563 0.310 0 5.29 0.743 1.686 0.371 0.945 0.533 0.002 0.151 0.991 0.552 11.540 0.497 . . . . . . . . . . . . . . . . . . . . het 1272.74 217 1 144879090 . T C 1272.74 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.582;DP=217;DS;Dels=0.00;FS=1.372;HRun=0;HaplotypeScore=2.7220;MQ=59.23;MQ0=0;MQRankSum=1.725;QD=5.87;ReadPosRankSum=-0.344;VQSLOD=4.4363;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:161,56:217:99:1303,0,5068 1 144879264 144879264 A G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.T4672C:p.W1558R,PDE4DIP:NM_001198834:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_014644:exon27:c.T4186C:p.W1396R,PDE4DIP:NM_001198832:exon30:c.T4054C:p.W1352R,PDE4DIP:NM_001350521:exon30:c.T4597C:p.W1533R,PDE4DIP:NM_001350522:exon30:c.T4384C:p.W1462R,PDE4DIP:NM_001350523:exon30:c.T4051C:p.W1351R 0.71 0.54 0.72 0.93 0.65 0.77 0.6879 0.5460 0.8080 0.9285 0.6678 0.6427 0.6839 0.7580 . . . 0.66 0.68 rs2798901 COSM4591662;COSM4591664;COSM4591663 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6917 0.5439 0.7866 0.6414 0.9246 0.6690 0.6390 0.6765 0.7569 0.6344 0.5459 0.7303 0.6424 0.9090 0.6683 0.6407 0.6684 hom 5569.49 185 1 144879264 . A G 5569.49 Mask AC=2;AF=1.00;AN=2;DP=185;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=5.2636;MQ=58.88;MQ0=0;QD=30.11;VQSLOD=6.4967;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,185:185:99:5568,454,0 1 144879375 144879375 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon23:c.A4561G:p.K1521E,PDE4DIP:NM_001198834:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_014644:exon27:c.A4075G:p.K1359E,PDE4DIP:NM_001198832:exon30:c.A3943G:p.K1315E,PDE4DIP:NM_001350521:exon30:c.A4486G:p.K1496E,PDE4DIP:NM_001350522:exon30:c.A4273G:p.K1425E,PDE4DIP:NM_001350523:exon30:c.A3940G:p.K1314E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.815 -0.742 1.000 0.473 0.563 0.310 0 -0.444 0.116 0.144 0.158 0.041 0.156 0.267 0.248 0.917 0.393 7.421 0.261 . . . . . . . . . . . . . . . . . . . . het 4049.69 250 1 144879375 . T C 4049.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.744;DP=250;DS;Dels=0.00;FS=0.486;HRun=0;HaplotypeScore=5.2355;MQ=58.96;MQ0=0;MQRankSum=-0.327;QD=16.20;ReadPosRankSum=-1.625;VQSLOD=3.9524;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,122:250:99:3369,0,3642 1 144882581 144882581 A G exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350520:exon20:c.T3927C:p.I1309I,PDE4DIP:NM_001198834:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_014644:exon24:c.T3438C:p.I1146I,PDE4DIP:NM_001350521:exon27:c.T3849C:p.I1283I,PDE4DIP:NM_001350522:exon27:c.T3636C:p.I1212I . . . . . . 0.5000 0.5 0.5 0.5 0.4998 0.5000 0.5 0.4999 . . . 0.5 0.51 rs1699836 COSM4595251;COSM4595252 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.4998 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3902.08 250 1 144882581 . A G 3902.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.447;DP=250;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2205;MQ=57.49;MQ0=2;MQRankSum=0.822;QD=15.61;ReadPosRankSum=0.364;VQSLOD=3.3979;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,132:250:99:3269,0,3204 1 144882823 144882823 C T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon20:c.G3685A:p.A1229T,PDE4DIP:NM_001198834:exon24:c.G3196A:p.A1066T,PDE4DIP:NM_014644:exon24:c.G3196A:p.A1066T,PDE4DIP:NM_001198832:exon27:c.G3394A:p.A1132T,PDE4DIP:NM_001350521:exon27:c.G3607A:p.A1203T,PDE4DIP:NM_001350522:exon27:c.G3394A:p.A1132T,PDE4DIP:NM_001350523:exon27:c.G3394A:p.A1132T . . . . . . 0.5000 0.5 0.5 0.5 0.4998 0.5000 0.5 0.4999 . . . 0.5 0.5 rs1698647 COSM4591245;COSM4591243;COSM4591244 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3225.28 249 1 144882823 . C T 3225.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.006;DP=249;DS;Dels=0.00;FS=4.276;HRun=2;HaplotypeScore=7.4280;MQ=58.54;MQ0=0;MQRankSum=0.282;QD=12.95;ReadPosRankSum=-1.395;VQSLOD=3.7191;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:3255,0,4064 1 144886197 144886197 A T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001350520:exon19:c.T3526A:p.F1176I,PDE4DIP:NM_001198834:exon23:c.T3037A:p.F1013I,PDE4DIP:NM_014644:exon23:c.T3037A:p.F1013I,PDE4DIP:NM_001198832:exon26:c.T3235A:p.F1079I,PDE4DIP:NM_001350521:exon26:c.T3448A:p.F1150I,PDE4DIP:NM_001350522:exon26:c.T3235A:p.F1079I,PDE4DIP:NM_001350523:exon26:c.T3235A:p.F1079I . . . . . . 0.5000 0.5 0.5 0.5 0.4998 0.5000 0.5 0.4999 . . . 0.5 0.51 rs1698624 COSM4142486;COSM4142487;COSM4142488 1(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4089.37 249 1 144886197 . A T 4089.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.362;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.3850;MQ=59.31;MQ0=0;MQRankSum=1.102;QD=16.42;ReadPosRankSum=-0.623;VQSLOD=4.2501;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,129:249:99:3456,0,3124 1 144912153 144912153 A G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon11:c.T2611C:p.C871R,PDE4DIP:NM_001350520: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,PDE4DIP:NM_001350521:exon18:c.T2533C:p.C845R,PDE4DIP:NM_001350522:exon18:c.T2320C:p.C774R,PDE4DIP:NM_001350523:exon18:c.T2320C:p.C774R 0.88 0.92 0.89 0.94 0.8 0.85 0.8255 0.9040 0.9162 0.9281 0.7734 0.7893 0.8304 0.8259 0.83 0.89 0.79 0.91 0.75 rs1628172 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8268 0.9064 0.9087 0.7831 0.9298 0.7753 0.7899 0.8282 0.8255 0.8278 0.8993 0.8878 0.7781 0.9165 0.7715 0.7879 0.8211 hom 3731.64 134 1 144912153 . A G 3731.64 Mask AC=2;AF=1.00;AN=2;DP=134;Dels=0.01;FS=0.000;HRun=1;HaplotypeScore=8.2510;MQ=58.54;MQ0=0;QD=27.44;VQSLOD=3.6788;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,133:134:99:3731,298,0 1 144912233 144912233 C T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon11:c.G2531A:p.R844H,PDE4DIP:NM_001350520: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,PDE4DIP:NM_001350521:exon18:c.G2453A:p.R818H,PDE4DIP:NM_001350522:exon18:c.G2240A:p.R747H,PDE4DIP:NM_001350523:exon18:c.G2240A:p.R747H . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.47 rs1629011 COSM4591491;COSM4591489;COSM4591488;COSM4591487;COSM4591490 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 1374.08 103 1 144912233 . C T 1374.08 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.633;DP=103;Dels=0.00;FS=1.721;HRun=0;HaplotypeScore=1.6647;MQ=57.75;MQ0=0;MQRankSum=-1.279;QD=13.34;ReadPosRankSum=0.327;VQSLOD=3.7808;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:48,55:103:99:1404,0,1159 1 144915624 144915624 G - exonic PDE4DIP frameshift deletion PDE4DIP:NM_001002811:exon10:c.2290delC:p.L764Cfs*11,PDE4DIP:NM_001350520:exon10:c.2290delC:p.L764Cfs*11,PDE4DIP:NM_001002812:exon14:c.1801delC:p.L601Cfs*11,PDE4DIP:NM_001198834:exon14:c.1801delC:p.L601Cfs*11,PDE4DIP:NM_014644:exon14:c.1801delC:p.L601Cfs*11,PDE4DIP:NM_001198832:exon17:c.1999delC:p.L667Cfs*11,PDE4DIP:NM_001350521:exon17:c.2212delC:p.L738Cfs*11,PDE4DIP:NM_001350522:exon17:c.1999delC:p.L667Cfs*11,PDE4DIP:NM_001350523:exon17:c.1999delC:p.L667Cfs*11 . . . . . . 0.1924 0.0367 0.2842 0.3971 0.2208 0.1737 0.1960 0.1836 0.13 0.048 0.17 0.11 0.098 rs66512216 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1587 0.0261 0.2254 0.0755 0.3765 0.1820 0.1376 0.1463 0.1391 0.1363 0.0333 0.2245 0.0966 0.3759 0.2005 0.1534 0.1732 het 1674.04 220 1 144915623 . AG A 1674.04 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.022;DP=220;DS;FS=4.632;HRun=1;HaplotypeScore=773.8255;MQ=48.87;MQ0=5;MQRankSum=-4.148;QD=7.34;ReadPosRankSum=-0.153;set=variant2 GT:AD:DP:GQ:PL 0/1:166,62:220:99:1713,0,5529 1 144916748 144916748 C G exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon9:c.G2096C:p.S699T,PDE4DIP:NM_001350520: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,PDE4DIP:NM_001350521:exon16:c.G2018C:p.S673T,PDE4DIP:NM_001350522:exon16:c.G1805C:p.S602T,PDE4DIP:NM_001350523:exon16:c.G1805C:p.S602T . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.49 rs1747930 COSM4591224;COSM4591220;COSM4591223;COSM4591222;COSM4591221 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2852.31 224 1 144916748 . C G 2852.31 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.093;DP=224;DS;Dels=0.00;FS=1.341;HRun=0;HaplotypeScore=8.4428;MQ=58.92;MQ0=0;MQRankSum=-0.254;QD=12.73;ReadPosRankSum=0.283;VQSLOD=3.9623;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:117,107:224:99:2882,0,3480 1 144917546 144917546 A G exonic PDE4DIP synonymous SNV PDE4DIP:NM_001002811:exon8:c.T2047C:p.L683L,PDE4DIP:NM_001350520: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,PDE4DIP:NM_001350521:exon15:c.T1969C:p.L657L,PDE4DIP:NM_001350522:exon15:c.T1756C:p.L586L,PDE4DIP:NM_001350523:exon15:c.T1756C:p.L586L . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.51 rs1698682 COSM4595182;COSM4595184;COSM4595185;COSM4595183;COSM4595181 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4019.23 241 1 144917546 . A G 4019.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.756;DP=241;DS;Dels=0.00;FS=10.322;HRun=1;HaplotypeScore=5.5741;MQ=59.37;MQ0=0;MQRankSum=0.937;QD=16.68;ReadPosRankSum=0.561;VQSLOD=3.3791;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:130,111:241:99:3335,0,3967 1 144918957 144918957 T A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon6:c.A1718T:p.E573V,PDE4DIP:NM_001350520: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,PDE4DIP:NM_001350521:exon13:c.A1640T:p.E547V,PDE4DIP:NM_001350522:exon13:c.A1427T:p.E476V,PDE4DIP:NM_001350523:exon13:c.A1427T:p.E476V . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.5 rs1061308 COSM4590157;COSM4590160;COSM4590159;COSM4590161;COSM4590158 3(thyroid);23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3014.49 249 1 144918957 . T A 3014.49 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.002;DP=249;DS;Dels=0.00;FS=4.949;HRun=0;HaplotypeScore=4.8350;MQ=57.88;MQ0=0;MQRankSum=-0.638;QD=12.11;ReadPosRankSum=-0.123;VQSLOD=3.8019;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:133,116:249:99:3044,0,3705 1 144922583 144922583 G A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon3:c.C1313T:p.S438L,PDE4DIP:NM_001350520: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,PDE4DIP:NM_001350521:exon10:c.C1235T:p.S412L,PDE4DIP:NM_001350522:exon10:c.C1022T:p.S341L,PDE4DIP:NM_001350523:exon10:c.C1022T:p.S341L . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.109 0.032 1.000 0.462 0.707 0.730 0 3.2 0.357 1.242 0.321 0.871 0.380 0.818 0.297 0.928 0.402 4.776 0.125 . . . . . . . . . . . . . . . . . . . . het 4051.23 250 1 144922583 . G A 4051.23 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.205;DP=250;DS;Dels=0.00;FS=2.184;HRun=1;HaplotypeScore=5.4162;MQ=58.93;MQ0=0;MQRankSum=2.273;QD=16.20;ReadPosRankSum=-1.755;VQSLOD=3.1244;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3358,0,3529 1 144923729 144923729 T - exonic PDE4DIP frameshift deletion PDE4DIP:NM_001002811:exon2:c.1218delA:p.E406Dfs*22,PDE4DIP:NM_001350520:exon2:c.1218delA:p.E406Dfs*22,PDE4DIP:NM_001002812:exon6:c.729delA:p.E243Dfs*22,PDE4DIP:NM_001198834:exon6:c.729delA:p.E243Dfs*22,PDE4DIP:NM_014644:exon6:c.729delA:p.E243Dfs*22,PDE4DIP:NM_001198832:exon9:c.927delA:p.E309Dfs*22,PDE4DIP:NM_001350521:exon9:c.1140delA:p.E380Dfs*22,PDE4DIP:NM_001350522:exon9:c.927delA:p.E309Dfs*22,PDE4DIP:NM_001350523:exon9:c.927delA:p.E309Dfs*22 0.19 0.011 0.22 0.4 0.18 0.18 0.1929 0.0366 0.2845 0.3985 0.2210 0.1741 0.1960 0.1843 . . . . . rs369106087 COSM4381225;COSM4381226;COSM4381224;COSM4381228;COSM4381227 6(upper_aerodigestive_tract) Benign not_specified RCV000454655.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.1730 0.0286 0.2398 0.0917 0.3834 0.2002 0.1516 0.1628 0.1554 0.1349 0.0332 0.2274 0.1020 0.3748 0.2004 0.1507 0.1689 het 1025.61 228 1 144923728 . GT G 1025.61 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=9.318;DP=228;DS;FS=0.620;HRun=2;HaplotypeScore=512.8734;MQ=53.98;MQ0=0;MQRankSum=2.335;QD=4.50;ReadPosRankSum=-1.094;set=variant2 GT:AD:DP:GQ:PL 0/1:180,48:228:99:1065,0,7134 1 144930596 144930596 C A exonic PDE4DIP synonymous SNV PDE4DIP:NM_001002811:exon1:c.G1113T:p.P371P,PDE4DIP:NM_001350520:exon1:c.G1113T:p.P371P . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.48 rs2762867 COSM4594942 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.5 0.5 0.5 0.5 0.5 0.5000 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 2129.28 188 1 144930596 . C A 2129.28 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.233;DP=188;Dels=0.00;FS=4.337;HRun=0;HaplotypeScore=0.8941;MQ=59.31;MQ0=0;MQRankSum=0.884;QD=11.33;ReadPosRankSum=1.895;VQSLOD=5.0527;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:102,86:188:99:2159,0,2442 1 144930940 144930940 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.A769G:p.K257E,PDE4DIP:NM_001350520:exon1:c.A769G:p.K257E . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.065 -0.018 1.000 0.747 0.733 0.969 0 5.53 0.825 3.491 0.528 1.035 0.655 0.999 0.424 0.878 0.368 13.604 0.613 . . . . . . . . . . . . . . . . . . . . het 4474.90 246 1 144930940 . T C 4474.90 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.669;DP=246;DS;Dels=0.00;FS=0.473;HRun=1;HaplotypeScore=4.8546;MQ=59.30;MQ0=0;MQRankSum=0.453;QD=18.19;ReadPosRankSum=-0.215;VQSLOD=4.3651;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:104,142:246:99:3863,0,2740 1 144931087 144931087 T C exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.A622G:p.T208A,PDE4DIP:NM_001350520:exon1:c.A622G:p.T208A . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c 0.313 0.327 1.000 0.747 0.733 0.969 0 4.95 0.648 2.515 0.449 0.143 0.228 1.000 0.715 0.989 0.536 12.559 0.554 . . . . . . . . . . . . . . . . . . . . het 994.35 153 1 144931087 . T C 994.35 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.561;DP=153;Dels=0.00;FS=4.566;HRun=0;HaplotypeScore=4.9073;MQ=59.26;MQ0=0;MQRankSum=-0.278;QD=6.50;ReadPosRankSum=-0.319;VQSLOD=3.0228;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:109,43:153:99:1024,0,3180 1 144931330 144931330 C T exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.G379A:p.A127T,PDE4DIP:NM_001350520:exon1:c.G379A:p.A127T . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 0.51 rs2762745 COSM4591353 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 3112.15 250 1 144931330 . C T 3112.15 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-9.408;DP=250;DS;Dels=0.00;FS=2.938;HRun=0;HaplotypeScore=6.2612;MQ=59.49;MQ0=0;MQRankSum=1.306;QD=12.45;ReadPosRankSum=1.077;VQSLOD=3.9739;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3142,0,3881 1 144931392 144931392 G A exonic PDE4DIP nonsynonymous SNV PDE4DIP:NM_001002811:exon1:c.C317T:p.A106V,PDE4DIP:NM_001350520:exon1:c.C317T:p.A106V . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . c -0.708 -0.600 1.000 0.747 0.442 0.072 0 4.35 0.513 1.124 0.307 -0.024 0.128 0.003 0.159 0.767 0.326 12.594 0.556 . . . . . . . . . . . . . . . . . . . . het 3025.05 249 1 144931392 . G A 3025.05 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.574;DP=249;DS;Dels=0.00;FS=0.983;HRun=0;HaplotypeScore=0.9996;MQ=59.59;MQ0=0;MQRankSum=0.745;QD=12.15;ReadPosRankSum=0.133;VQSLOD=6.1051;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:136,112:249:99:3055,0,3697 1 144994658 144994658 C A exonic PDE4DIP 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_001350521:exon4:c.G485T:p.R162L,PDE4DIP:NM_001350522:exon4:c.G272T:p.R91L,PDE4DIP:NM_001350523:exon4:c.G272T:p.R91L,PDE4DIP:NM_022359:exon4:c.G485T:p.R162L . . . . . . 0.4998 0.4985 0.5 0.5 0.5 0.5 0.5 0.4996 . . . 0.5 0.48 rs1664022 COSM4591537;COSM4591540;COSM4591539;COSM4591541;COSM4591538 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4998 0.4980 0.4999 0.4999 0.5 0.5 0.5000 0.5 0.4996 0.4105 0.4906 0.4868 0.2020 0.4981 0.4997 0.3324 0.4601 het 2721.64 212 1 144994658 . C A 2721.64 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.949;DP=212;DS;Dels=0.00;FS=2.437;HRun=0;HaplotypeScore=3.0908;MQ=59.47;MQ0=0;MQRankSum=0.861;QD=12.84;ReadPosRankSum=0.938;VQSLOD=5.6185;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:111,101:212:99:2752,0,2875 1 145075683 145075683 C T exonic PDE4DIP stopgain PDE4DIP:NM_001350521:exon1:c.G180A:p.W60X,PDE4DIP:NM_022359:exon1:c.G180A:p.W60X . . . . . . 0.4999 0.4992 0.4999 0.5 0.5 0.4999 0.5 0.4999 . . . 0.46 0.42 rs2762779 COSM423677 1(breast);1(haematopoietic_and_lymphoid_tissue);1(thyroid);17(upper_aerodigestive_tract);3(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4998 0.4995 0.5 0.4999 0.5 0.4998 0.4997 0.4998 0.5000 0.5000 0.4999 0.5 0.5 0.5 0.5 0.5 0.5 het 903.12 117 1 145075683 . C T 903.12 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.304;DP=117;Dels=0.00;FS=6.431;HRun=0;HaplotypeScore=2.8905;MQ=59.01;MQ0=0;MQRankSum=0.287;QD=7.72;ReadPosRankSum=-0.571;VQSLOD=3.6847;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:77,40:117:99:933,0,2000 1 145075854 145075854 G C exonic PDE4DIP synonymous SNV PDE4DIP:NM_001350521:exon1:c.C9G:p.G3G,PDE4DIP:NM_022359:exon1:c.C9G:p.G3G . . . . . . 0.5000 0.4996 0.5 0.5 0.5 0.5000 0.5 0.5 . . . 0.49 0.45 rs1663853 COSM3723000 1(breast);1(thyroid);2(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5000 0.4999 0.5000 0.5 0.5 0.4999 0.5000 0.5 0.5 0.5000 0.5001 0.5 0.5 0.5 0.5 0.5 0.5 het 649.83 65 1 145075854 . G C 649.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.303;DP=65;Dels=0.00;FS=1.231;HRun=3;HaplotypeScore=4.6762;MQ=58.41;MQ0=0;MQRankSum=1.072;QD=10.00;ReadPosRankSum=0.101;VQSLOD=4.7370;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:40,25:65:99:680,0,1084 1 145103947 145103947 T C exonic SEC22B unknown UNKNOWN . . . . . . 0.4981 0.4993 0.4975 0.4967 0.4974 0.4982 0.4977 0.4987 . . . 0.5 . rs2794062 COSN2558063 1(biliary_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4986 0.4988 0.4977 0.4985 0.4987 0.4992 0.4987 0.4972 0.4988 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 473.16 55 1 145103947 . T C 473.16 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.571;DP=55;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=58.90;MQ0=0;MQRankSum=-1.698;QD=8.60;ReadPosRankSum=-0.282;VQSLOD=4.9495;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:32,23:55:99:503,0,812 1 145109583 145109583 C A exonic SEC22B unknown UNKNOWN . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 . . . 0.5 . rs2794053 COSN15633403;COSN15628855;COSN15639380;COSN15636823;COSN15635947;COSN15641837;COSN15641051;COSN15646816;COSN15635130;COSN15631382;COSN15628028;COSN15645118;COSN15644312;COSN15643461;COSN15638516;COSN15634296;COSN15640210;COSN15642641;COSN15637678;COSN15629698;COSN15630547;COSN15645979;COSN15632308 23(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 4103.11 249 1 145109583 . C A 4103.11 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.881;DP=249;DS;Dels=0.00;FS=2.420;HRun=1;HaplotypeScore=10.3636;MQ=59.17;MQ0=0;MQRankSum=0.748;QD=16.48;ReadPosRankSum=-1.743;VQSLOD=2.6885;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,119:249:99:3389,0,3646 1 145109661 145109661 G A exonic SEC22B unknown UNKNOWN . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.965 0.272 1.000 0.747 0.383 0.051 0 5.55 0.832 7.573 0.816 0.707 0.301 1.000 0.715 0.993 0.574 17.055 0.863 Longin domain|Longin-like domain . . . . . . . . . . . . . . . . . . . het 1083.78 249 1 145109661 . G A 1083.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.587;DP=249;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.3452;MQ=59.25;MQ0=0;MQRankSum=0.619;QD=4.35;ReadPosRankSum=-0.363;VQSLOD=3.6835;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:196,53:249:99:1114,0,5654 1 145112485 145112485 C T exonic SEC22B unknown UNKNOWN . . . . . . 0.4995 0.4995 0.4994 0.4979 0.4994 0.4996 0.4978 0.4998 0.42 0.4 0.43 0.12 . rs2794039 COSN19733235;COSN19613927;COSN20345188 1(haematopoietic_and_lymphoid_tissue);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4994 0.4991 0.4993 0.4996 0.4994 0.4996 0.4994 0.4986 0.4998 0.5 0.5 0.5 0.5 0.5 0.5 0.5 0.5 het 909.85 225 1 145112485 . C T 909.85 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.555;DP=225;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.9273;MQ=58.75;MQ0=0;MQRankSum=1.886;QD=4.04;ReadPosRankSum=0.337;VQSLOD=3.1768;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:174,51:225:99:940,0,4490 1 145532549 145532549 T C exonic ITGA10 synonymous SNV ITGA10:NM_001303041:exon5:c.T573C:p.F191F,ITGA10:NM_001303040:exon6:c.T609C:p.F203F,ITGA10:NM_003637:exon9:c.T1002C:p.F334F . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 1.254 0.054 0.630 0.219 0.563 0.310 0 2.37 0.282 1.952 0.397 1.048 0.713 1.000 0.715 1.000 0.888 8.375 0.314 von Willebrand factor\x2c type A . . . . . . . . . . . . . . . . . . . hom 6602.80 200 1 145532549 . T C 6602.80 Mask AC=2;AF=1.00;AN=2;DP=200;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0550;MQ=59.15;MQ0=0;QD=33.01;VQSLOD=7.3951;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,200:200:99:6602,515,0 1 145561116 145561116 G A exonic ANKRD35 synonymous SNV ANKRD35:NM_001280799:exon8:c.G534A:p.Q178Q,ANKRD35:NM_144698:exon10:c.G804A:p.Q268Q . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . n 0.684 -0.049 0.127 0.170 0.497 0.185 0 0.767 0.176 -0.222 0.091 -0.410 0.061 0.021 0.196 0.006 0.095 5.348 0.152 . . . . . . . . . . . . . . . . . . . . het 665.53 52 1 145561116 . G A 665.53 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.319;DP=52;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4658;MQ=58.66;MQ0=0;MQRankSum=1.685;QD=12.80;ReadPosRankSum=-0.751;VQSLOD=5.7190;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:25,27:52:99:696,0,714 1 145561594 145561594 C T exonic ANKRD35 nonsynonymous SNV ANKRD35:NM_001280799:exon8:c.C1012T:p.P338S,ANKRD35:NM_144698:exon10:c.C1282T:p.P428S 0.56 0.58 0.5 0.73 0.38 0.61 0.4587 0.5388 0.5499 0.7298 0.3856 0.3780 0.5133 0.5553 0.42 0.53 0.37 0.53 0.34 rs6670984 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4597 0.5352 0.5394 0.4971 0.7269 0.3961 0.3669 0.4693 0.5543 0.4344 0.5269 0.5060 0.5033 0.7270 0.3970 0.3513 0.4508 het 1461.40 84 1 145561594 . C T 1461.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-3.522;DP=84;Dels=0.00;FS=12.286;HRun=0;HaplotypeScore=0.9992;MQ=57.92;MQ0=0;MQRankSum=2.373;QD=17.40;ReadPosRankSum=-0.881;VQSLOD=2.5615;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:31,53:84:99:1491,0,741 1 145583938 145583938 C G exonic PIAS3 nonsynonymous SNV PIAS3:NM_006099:exon10:c.C1169G:p.S390C 0.0066 . 0.0086 . 0.023 0.0041 0.0137 0.0028 0.0083 0 0.0156 0.0199 0.0176 0.0058 0.018 0.0036 0.025 . 0.025 rs17354559 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0145 0.0027 0.0108 0.0185 0 0.0166 0.0210 0.0155 0.0057 0.0159 0.0061 0.0179 0.0199 0 0.0180 0.0228 0.0133 het 4266.77 248 1 145583938 . C G 4266.77 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.582;DP=248;DS;Dels=0.00;FS=0.464;HRun=0;HaplotypeScore=1.8646;MQ=59.08;MQ0=0;MQRankSum=-0.181;QD=17.20;ReadPosRankSum=0.136;VQSLOD=5.4036;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:120,128:248:99:3631,0,3307 1 146672906 146672906 C T exonic FMO5 synonymous SNV FMO5:NM_001144829:exon7:c.G1011A:p.P337P,FMO5:NM_001461:exon7:c.G1011A:p.P337P 0.9 0.83 0.95 0.99 0.91 0.85 0.9209 0.8470 0.9562 0.9832 0.9527 0.9280 0.9196 0.8686 0.9 0.85 0.92 0.86 0.94 rs894469 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9231 0.8465 0.9523 0.8944 0.9819 0.9508 0.9274 0.9297 0.8689 0.9156 0.8483 0.9403 0.9073 0.9772 0.9559 0.9362 0.9358 hom 3149.06 106 1 146672906 . C T 3149.06 Mask AC=2;AF=1.00;AN=2;DP=106;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.2429;MQ=60.00;MQ0=0;QD=29.71;VQSLOD=8.5746;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,106:106:99:3182,250,0 1 146740502 146740502 C G exonic CHD1L nonsynonymous SNV CHD1L:NM_001256338:exon4:c.C438G:p.H146Q,CHD1L:NM_001256337:exon5:c.C207G:p.H69Q,CHD1L:NM_001348454:exon5:c.C594G:p.H198Q,CHD1L:NM_001348456:exon5:c.C207G:p.H69Q,CHD1L:NM_001348463:exon6:c.C207G:p.H69Q,CHD1L:NM_001348466:exon6:c.C207G:p.H69Q,CHD1L:NM_001348459:exon8:c.C207G:p.H69Q,CHD1L:NM_001348461:exon8:c.C207G:p.H69Q,CHD1L:NM_001348464:exon8:c.C207G:p.H69Q,CHD1L:NM_001256336:exon9:c.C750G:p.H250Q,CHD1L:NM_001348453:exon9:c.C711G:p.H237Q,CHD1L:NM_001348455:exon9:c.C561G:p.H187Q,CHD1L:NM_001348457:exon9:c.C207G:p.H69Q,CHD1L:NM_001348458:exon9:c.C207G:p.H69Q,CHD1L:NM_001348460:exon9:c.C207G:p.H69Q,CHD1L:NM_001348465:exon9:c.C207G:p.H69Q,CHD1L:NM_001348452:exon10:c.C834G:p.H278Q,CHD1L:NM_001348462:exon10:c.C207G:p.H69Q,CHD1L:NM_004284:exon10:c.C1050G:p.H350Q,CHD1L:NM_024568:exon10:c.C711G:p.H237Q,CHD1L:NM_001348451:exon11:c.C834G:p.H278Q 0.15 0.0076 0.19 0.11 0.23 0.25 0.2076 0.0373 0.1826 0.0920 0.2395 0.2390 0.2080 0.2532 0.17 0.047 0.23 0.098 0.24 rs17356233 . . . . . . . . . . . . . 0.289 0.150 T 0.396 0.329 B 0.249 0.373 B 0.019 0.273 N 0.999 0.588 P -0.505 0.026 N -0.14 0.650 T -1.51 0.387 N 0.088 0.256 -1.037 0.183 T 0.032 0.137 T . . . 1.424 0.234 12.91 0.944 0.241 0.561 0.298 D c -0.778 -0.685 0.714 0.228 0.707 0.730 0 -0.764 0.104 0.223 0.174 0.004 0.136 0.311 0.252 0.864 0.361 8.959 0.348 Helicase superfamily 1/2\x2c ATP-binding domain|P-loop containing nucleoside triphosphate hydrolase|SNF2-related\x2c N-terminal domain;P-loop containing nucleoside triphosphate hydrolase ENSG00000131781.8|ENSG00000131778.13|ENSG00000131778.13|ENSG00000131778.13|ENSG00000131781.8|ENSG00000131778.13|ENSG00000131778.13|ENSG00000131791.6|ENSG00000131778.13|ENSG00000131791.6|ENSG00000131781.8|ENSG00000131778.13|ENSG00000227242.2|ENSG00000271721.1|ENSG00000131781.8|ENSG00000131778.13|ENSG00000131778.13 Artery_Aorta|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Whole_Blood 0.2096 0.0365 0.1932 0.1848 0.0883 0.2433 0.2398 0.2242 0.2531 0.1796 0.0384 0.2057 0.1755 0.1012 0.2350 0.2514 0.2510 het 509.91 41 1 146740502 . C G 509.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.630;DP=41;Dels=0.00;FS=1.204;HRun=0;HaplotypeScore=1.6828;MQ=56.54;MQ0=0;MQRankSum=-0.952;QD=12.44;ReadPosRankSum=-1.813;VQSLOD=2.9116;culprit=ReadPosRankSum;set=variant GT:AD:DP:GQ:PL 0/1:21,20:41:99:540,0,528 1 146751782 146751782 A C exonic CHD1L synonymous SNV CHD1L:NM_001256338:exon9:c.A1011C:p.I337I,CHD1L:NM_001256337:exon10:c.A780C:p.I260I,CHD1L:NM_001348454:exon10:c.A1167C:p.I389I,CHD1L:NM_001348456:exon10:c.A780C:p.I260I,CHD1L:NM_001348463:exon11:c.A780C:p.I260I,CHD1L:NM_001348466:exon11:c.A780C:p.I260I,CHD1L:NM_001348459:exon13:c.A780C:p.I260I,CHD1L:NM_001348461:exon13:c.A780C:p.I260I,CHD1L:NM_001348464:exon13:c.A780C:p.I260I,CHD1L:NM_001256336:exon14:c.A1323C:p.I441I,CHD1L:NM_001348453:exon14:c.A1284C:p.I428I,CHD1L:NM_001348455:exon14:c.A1134C:p.I378I,CHD1L:NM_001348457:exon14:c.A780C:p.I260I,CHD1L:NM_001348458:exon14:c.A780C:p.I260I,CHD1L:NM_001348460:exon14:c.A780C:p.I260I,CHD1L:NM_001348465:exon14:c.A780C:p.I260I,CHD1L:NM_001348452:exon15:c.A1407C:p.I469I,CHD1L:NM_001348462:exon15:c.A780C:p.I260I,CHD1L:NM_004284:exon15:c.A1623C:p.I541I,CHD1L:NM_024568:exon15:c.A1284C:p.I428I,CHD1L:NM_001348451:exon16:c.A1407C:p.I469I 0.97 0.94 0.99 0.99 0.96 0.97 0.9658 0.9422 0.9863 0.9844 0.9568 0.9640 0.9570 0.9678 0.95 0.94 0.96 0.95 0.98 rs7547279 COSM5446904 1(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9662 0.9420 0.9845 0.9523 0.9828 0.9566 0.9640 0.9669 0.9681 0.9597 0.9420 0.9761 0.9536 0.9790 0.9605 0.9666 0.9654 hom 2483.07 81 1 146751782 . A C 2483.07 Mask AC=2;AF=1.00;AN=2;DP=81;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.72;MQ0=0;QD=30.66;VQSLOD=9.0785;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,81:81:99:2516,196,0 1 146767149 146767149 G T exonic CHD1L nonsynonymous SNV CHD1L:NM_001256338:exon17:c.G2041T:p.A681S,CHD1L:NM_001256337:exon18:c.G1810T:p.A604S,CHD1L:NM_001348454:exon18:c.G2197T:p.A733S,CHD1L:NM_001348456:exon18:c.G1810T:p.A604S,CHD1L:NM_001348463:exon19:c.G1810T:p.A604S,CHD1L:NM_001348466:exon19:c.G1810T:p.A604S,CHD1L:NM_001348459:exon21:c.G1810T:p.A604S,CHD1L:NM_001348461:exon21:c.G1810T:p.A604S,CHD1L:NM_001348464:exon21:c.G1810T:p.A604S,CHD1L:NM_001256336:exon22:c.G2353T:p.A785S,CHD1L:NM_001348453:exon22:c.G2314T:p.A772S,CHD1L:NM_001348455:exon22:c.G2164T:p.A722S,CHD1L:NM_001348457:exon22:c.G1810T:p.A604S,CHD1L:NM_001348458:exon22:c.G1810T:p.A604S,CHD1L:NM_001348460:exon22:c.G1810T:p.A604S,CHD1L:NM_001348465:exon22:c.G1810T:p.A604S,CHD1L:NM_001348452:exon23:c.G2437T:p.A813S,CHD1L:NM_001348462:exon23:c.G1810T:p.A604S,CHD1L:NM_004284:exon23:c.G2653T:p.A885S,CHD1L:NM_024568:exon23:c.G2314T:p.A772S,CHD1L:NM_001348451:exon24:c.G2437T:p.A813S 0.97 0.94 0.99 0.99 0.96 0.97 0.9666 0.9426 0.9863 0.9843 0.9594 0.9651 0.9592 0.9681 0.95 0.94 0.96 0.95 0.98 rs4950394 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9671 0.9427 0.9846 0.9524 0.9828 0.9589 0.9653 0.9672 0.9687 0.9605 0.9425 0.9760 0.9536 0.9784 0.9619 0.9677 0.9663 hom 2850.02 99 1 146767149 . G T 2850.02 Mask AC=2;AF=1.00;AN=2;DP=99;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=58.33;MQ0=0;QD=28.79;VQSLOD=8.0769;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,99:99:99:2883,229,0 1 147091972 147091972 C T exonic BCL9 nonsynonymous SNV BCL9:NM_004326:exon8:c.C2011T:p.P671S 0.18 0.023 0.21 0.098 0.41 0.23 0.3143 0.0726 0.1612 0.0864 0.4724 0.4154 0.3205 0.2204 0.3 0.089 0.4 0.15 0.39 rs3820129 . . . . . . . . . . . . . 0.02 0.496 D 0.079 0.230 B 0.037 0.218 B 0.000 0.843 N 0.000 0.588 P 1.555 0.395 L 0.53 0.551 T -1.87 0.437 N 0.066 0.052 -1.031 0.201 T 0.065 0.268 T . . . 3.160 0.439 22.6 0.998 0.923 0.988 0.866 D c -0.070 0.076 1.000 0.747 0.707 0.730 0 3.92 0.444 5.999 0.701 0.892 0.403 1.000 0.715 1.000 0.888 13.156 0.588 . ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7|ENSG00000162836.7 Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid 0.3143 0.0645 0.1736 0.3412 0.0848 0.4616 0.4187 0.3293 0.2244 0.3084 0.0747 0.2231 0.3411 0.0812 0.4587 0.4336 0.3814 het 923.96 80 1 147091972 . C T 923.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-6.180;DP=80;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5983;MQ=59.46;MQ0=0;MQRankSum=2.445;QD=11.55;ReadPosRankSum=1.502;VQSLOD=5.4120;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:41,39:80:99:954,0,1115 1 147119273 147119273 G A exonic ACP6 synonymous SNV ACP6:NM_016361:exon10:c.C1239T:p.H413H 0.48 0.43 0.63 0.42 0.58 0.4 0.5342 0.4534 0.6485 0.3729 0.5860 0.5752 0.5198 0.4039 0.53 0.46 0.57 0.51 0.54 rs1344 COSM4415726 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5414 0.4555 0.6416 0.5814 0.3649 0.5792 0.5754 0.5553 0.4081 0.5355 0.4559 0.6205 0.5563 0.3507 0.5750 0.5882 0.5224 het 2474.97 214 1 147119273 . G A 2474.97 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.312;DP=214;Dels=0.00;FS=2.444;HRun=0;HaplotypeScore=3.7729;MQ=59.23;MQ0=0;MQRankSum=1.157;QD=11.57;ReadPosRankSum=-0.879;VQSLOD=6.0120;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:113,101:214:99:2505,0,2809 1 147121977 147121977 C T exonic ACP6 nonsynonymous SNV ACP6:NM_001323625:exon8:c.G946A:p.V316M,ACP6:NM_016361:exon8:c.G946A:p.V316M 0.98 0.94 1. 1. 1. 1. 0.9958 0.9538 0.9987 1 1 0.9999 0.9978 1 0.99 0.96 1. 0.99 1. rs6593795 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9968 0.9531 0.9986 1 1 1 0.9999 0.9985 0.9999 0.9867 0.9542 0.9964 1 1 1 0.9998 0.9949 hom 4104.88 137 1 147121977 . C T 4104.88 Mask AC=2;AF=1.00;AN=2;DP=137;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.70;MQ0=0;QD=29.96;VQSLOD=9.2062;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,137:137:99:4104,319,0 1 147124310 147124310 T G exonic ACP6 synonymous SNV ACP6:NM_001323625:exon7:c.A823C:p.R275R,ACP6:NM_016361:exon7:c.A823C:p.R275R . . . . . . 0.7107 0.7639 0.8290 0.7137 0.7340 0.7119 0.6894 0.5795 0.73 0.76 0.71 0.77 0.7 rs2153463 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7135 0.7601 0.8231 0.6668 0.7069 0.7342 0.7108 0.7130 0.5841 0.7312 0.7639 0.7590 0.6788 0.7019 0.7259 0.7184 0.6969 hom 2871.10 93 1 147124310 . T G 2871.10 Mask AC=2;AF=1.00;AN=2;DP=93;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.8941;MQ=59.75;MQ0=0;QD=30.87;VQSLOD=8.9045;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,93:93:99:2904,244,0 1 149906413 149906413 T C exonic MTMR11 nonsynonymous SNV MTMR11:NM_181873:exon5:c.A259G:p.M87V,MTMR11:NM_001145862:exon6:c.A475G:p.M159V 0.23 0.015 0.26 0.28 0.37 0.29 0.3353 0.0734 0.2340 0.3203 0.3196 0.3997 0.3675 0.3232 0.3 0.087 0.4 0.22 0.38 rs11205303 COSM146598;COSM3927611 1(stomach);1(haematopoietic_and_lymphoid_tissue);2(prostate);1(thyroid);1(large_intestine);1(biliary_tract) . . . . . Height 1.25 . 23563607 rs11205303 4E-23 0.193 0.220 T 0.0 0.257 B 0.001 0.267 B 0.019 0.272 N 0.927 0.271 P 1.725 0.447 L -1.56 0.818 D -1.13 0.291 N 0.066 0.052 -0.951 0.408 T 0.227 0.592 T . . . 0.057 0.099 3.155 0.904 0.191 0.583 0.304 D c -0.474 -0.329 1.000 0.437 0.651 0.465 0 2.65 0.305 0.555 0.230 0.144 0.231 1.000 0.715 0.998 0.697 7.499 0.265 PH domain-like ENSG00000272993.1|ENSG00000261716.1|ENSG00000183558.5 Artery_Tibial|Artery_Tibial|Artery_Tibial 0.3331 0.0685 0.2379 0.2852 0.3305 0.3081 0.4076 0.3544 0.3300 0.2885 0.0799 0.2679 0.3179 0.3677 0.3170 0.3900 0.3684 het 1206.33 122 1 149906413 . T C 1206.33 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.598;DP=122;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7295;MQ=59.24;MQ0=0;MQRankSum=-0.108;QD=9.89;ReadPosRankSum=-1.492;VQSLOD=6.1346;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:71,51:122:99:1236,0,1923 1 150199123 150199123 G T exonic ANP32E nonsynonymous SNV ANP32E:NM_001280560:exon4:c.C332A:p.A111E 0.6 0.92 0.47 0.55 0.43 0.5 0.4619 0.8455 0.4464 0.4921 0.3963 0.4110 0.4306 0.4470 0.55 0.82 0.42 0.54 0.35 rs7522034 COSM1179736 3(haematopoietic_and_lymphoid_tissue);1(prostate) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.588 P . . . 8.07 0.003 T 1.92 0.004 N . . -1.083 0.067 T 0.000 0.000 T . . . 0.443 0.137 6.978 0.225 0.009 0.205 0.209 N c -0.940 -0.912 0.205 0.182 0.707 0.730 0 -3.24 0.048 0.091 0.148 -0.209 0.100 0.996 0.391 0.997 0.653 1.400 0.021 Leucine-rich repeat domain\x2c L domain-like ENSG00000143374.10 Muscle_Skeletal 0.4469 0.8531 0.4272 0.3425 0.4884 0.4088 0.4103 0.4226 0.4317 0.5430 0.8411 0.4642 0.33 0.4888 0.3853 0.4250 0.4722 het 725.78 63 1 150199123 . G T 725.78 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.069;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=57.20;MQ0=0;MQRankSum=-0.752;QD=11.52;ReadPosRankSum=-0.765;VQSLOD=6.5156;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:34,29:63:99:756,0,844 1 150526044 150526044 G C exonic ADAMTSL4 nonsynonymous SNV ADAMTSL4:NM_001288607:exon6:c.G577C:p.A193P,ADAMTSL4:NM_001288608:exon6:c.G577C:p.A193P,ADAMTSL4:NM_019032:exon6:c.G577C:p.A193P,ADAMTSL4:NM_025008:exon6:c.G577C:p.A193P 0.53 0.61 0.43 0.57 0.53 0.44 0.5231 0.5974 0.5111 0.5486 0.6540 0.5257 0.5088 0.4090 0.55 0.59 0.53 0.52 0.4 rs41317515 COSM4142595;COSM4142597;COSM4142596 2(haematopoietic_and_lymphoid_tissue);1(thyroid) Benign|Benign not_specified|Ectopia_lentis RCV000252416.1|RCV000290467.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0013581:ORPHA1885:74969002 . . . . . . 0.703 0.076 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -0.205 0.041 N 0.23 0.631 T 1.43 0.011 N 0.012 0.003 -1.058 0.123 T 0.031 0.132 T . . . -1.198 0.025 0.007 0.673 0.081 0.006 0.026 N c -1.688 -1.744 1.000 0.747 0.660 0.495 0 -4.57 0.032 -1.171 0.032 -1.198 0.016 0.000 0.063 0.007 0.100 3.170 0.061 . ENSG00000143452.11|ENSG00000259357.1|ENSG00000163131.6|ENSG00000259357.1|ENSG00000259357.1|ENSG00000143452.11|ENSG00000259357.1|ENSG00000163131.6|ENSG00000143452.11|ENSG00000143369.10|ENSG00000259357.1|ENSG00000163131.6|ENSG00000259357.1|ENSG00000143452.11|ENSG00000237781.2|ENSG00000143382.9|ENSG00000259357.1|ENSG00000163131.6|ENSG00000143457.6|ENSG00000259357.1|ENSG00000259357.1|ENSG00000259357.1|ENSG00000259357.1|ENSG00000259357.1|ENSG00000163131.6|ENSG00000143452.11|ENSG00000259357.1|ENSG00000143457.6|ENSG00000259357.1|ENSG00000143452.11|ENSG00000259357.1|ENSG00000143457.6|ENSG00000143452.11|ENSG00000259357.1|ENSG00000143457.6|ENSG00000259357.1|ENSG00000143452.11|ENSG00000259357.1|ENSG00000259357.1 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Thyroid|Whole_Blood 0.5217 0.5967 0.5041 0.4282 0.5461 0.6497 0.5267 0.5237 0.4083 0.5506 0.5922 0.5048 0.41 0.5344 0.6406 0.5133 0.5390 het 2260.67 158 1 150526044 . G C 2260.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.315;DP=158;Dels=0.00;FS=2.045;HRun=1;HaplotypeScore=1.9325;MQ=59.38;MQ0=0;MQRankSum=0.886;QD=14.31;ReadPosRankSum=0.381;VQSLOD=6.4420;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:76,82:158:99:2291,0,1969 1 150531008 150531008 T C exonic ADAMTSL4 synonymous SNV ADAMTSL4:NM_019032:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_025008:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_001288607:exon16:c.T2325C:p.N775N,ADAMTSL4:NM_001288608:exon16:c.T2511C:p.N837N 0.81 0.65 0.9 0.84 0.93 0.83 0.9067 0.6932 0.9114 0.8448 0.9779 0.9479 0.9283 0.8743 0.87 0.7 0.95 0.77 0.95 rs10888382 COSM4142602;COSM4142600;COSM4142601 1(thyroid) Benign|Benign not_specified|Ectopia_lentis RCV000252118.1|RCV000377315.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0013581:ORPHA1885:74969002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9122 0.6897 0.9081 0.9223 0.8471 0.9796 0.9487 0.9229 0.8775 0.8775 0.7013 0.9069 0.9172 0.8525 0.9800 0.9532 0.9254 het 714.37 79 1 150531008 . T C 714.37 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.364;DP=79;Dels=0.00;FS=0.875;HRun=0;HaplotypeScore=3.1930;MQ=58.53;MQ0=0;MQRankSum=1.601;QD=9.04;ReadPosRankSum=0.457;VQSLOD=5.8276;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:48,31:79:99:744,0,1290 1 150531050 150531050 G A exonic ADAMTSL4 synonymous SNV ADAMTSL4:NM_019032:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_025008:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_001288607:exon16:c.G2367A:p.P789P,ADAMTSL4:NM_001288608:exon16:c.G2553A:p.P851P 0.88 0.83 0.84 0.98 0.84 0.9 0.8676 0.8374 0.8824 0.9745 0.8780 0.8452 0.8786 0.9056 0.84 0.84 0.85 0.85 0.79 rs10749657 COSM5827499;COSM3750346;COSM423780 1(large_intestine) Benign|Benign not_specified|Ectopia_lentis RCV000244123.1|RCV000264056.1 MedGen|MedGen:Orphanet:SNOMED_CT CN169374|C0013581:ORPHA1885:74969002 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8705 0.8398 0.8863 0.8168 0.9774 0.8807 0.8483 0.8514 0.9025 0.8591 0.8438 0.8520 0.8113 0.9852 0.8723 0.8533 0.8476 het 1219.96 78 1 150531050 . G A 1219.96 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-0.893;DP=78;Dels=0.00;FS=0.909;HRun=0;HaplotypeScore=1.5317;MQ=59.11;MQ0=0;MQRankSum=0.693;QD=15.64;ReadPosRankSum=-0.546;VQSLOD=5.7532;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:27,51:78:99:1250,0,643 1 150531170 150531170 C T exonic ADAMTSL4 synonymous SNV ADAMTSL4:NM_025008:exon15:c.C2604T:p.H868H 0.92 0.71 0.98 1. 1. 1. 0.9768 0.7455 0.9892 1 1 0.9994 0.9867 0.9996 0.92 0.75 1. 0.88 0.95 rs10749658 COSM4142603 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9814 0.7395 0.9866 0.9999 1 1 0.9993 0.9894 0.9995 0.9275 0.7477 0.9833 1 0.9994 1 0.9991 0.9827 hom 910.56 31 1 150531170 . C T 910.56 Mask AC=2;AF=1.00;AN=2;DP=31;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=59.25;MQ0=0;QD=29.37;VQSLOD=7.8718;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,31:31:78.20:944,78,0 1 150771703 150771703 T C exonic CTSK synonymous SNV CTSK:NM_000396:exon7:c.A831G:p.A277A 0.96 0.9 0.99 0.99 1. 0.97 0.9887 0.9257 0.9940 0.9946 1 0.9986 0.9890 0.9771 0.98 0.94 1. 0.95 1. rs10788796 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9900 0.9230 0.9932 0.9931 0.9935 1 0.9988 0.9918 0.9776 0.9788 0.9308 0.9905 1 0.9883 1 0.9989 0.9898 hom 5063.25 176 1 150771703 . T C 5063.25 Mask AC=2;AF=1.00;AN=2;DP=176;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=3.8805;MQ=59.18;MQ0=0;QD=28.77;VQSLOD=7.5486;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,176:176:99:5062,397,0 1 150970577 150970577 G T exonic MINDY1 nonsynonymous SNV MINDY1:NM_001040217:exon8:c.C728A:p.T243K,MINDY1:NM_001163259:exon8:c.C869A:p.T290K,MINDY1:NM_001163260:exon8:c.C728A:p.T243K,MINDY1:NM_001163258:exon9:c.C1298A:p.T433K,MINDY1:NM_001319998:exon9:c.C1154A:p.T385K,MINDY1:NM_018379:exon9:c.C1154A:p.T385K 0.94 0.79 0.99 1. 1. 1. 0.9830 0.8149 0.9918 1 1 0.9995 0.9912 0.9997 0.94 0.83 1. 0.94 1. rs2925741 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.001 0.040 B 0.067 0.218 N 1 0.090 P -0.695 0.019 N 0.94 0.453 T -0.25 0.110 N 0.008 0.332 -1.008 0.275 T 0.018 0.076 T . . . 1.710 0.267 14.47 0.777 0.116 0.004 0.019 N c -0.985 -0.841 1.000 0.747 0.707 0.730 0 3.1 0.346 2.484 0.447 0.152 0.238 0.854 0.303 0.981 0.494 9.653 0.389 . . . 0.9866 0.8150 0.9905 0.9998 1 1 0.9994 0.9914 0.9996 0.9494 0.8235 0.9893 1 1 1 0.9992 0.9929 hom 6138.88 177 1 150970577 . G T 6138.88 Mask AC=2;AF=1.00;AN=2;DP=177;Dels=0.00;FS=0.000;HRun=3;HaplotypeScore=1.8633;MQ=59.54;MQ0=0;QD=34.68;VQSLOD=9.5402;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,177:177:99:6138,472,0 1 150999737 150999737 A G exonic PRUNE1 synonymous SNV PRUNE1:NM_001303243:exon4:c.A105G:p.K35K,PRUNE1:NM_001303229:exon5:c.A162G:p.K54K,PRUNE1:NM_001303242:exon6:c.A708G:p.K236K,PRUNE1:NM_021222:exon6:c.A708G:p.K236K 0.28 0.25 0.2 0.46 0.21 0.25 0.2530 0.2480 0.2094 0.5021 0.2196 0.2311 0.2356 0.2589 0.24 0.26 0.23 0.3 0.23 rs11204762 COSM5618993 1(breast) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2502 0.2508 0.2064 0.1878 0.5092 0.2257 0.2326 0.2213 0.2590 0.2508 0.2489 0.1862 0.1722 0.5204 0.2252 0.2341 0.2495 het 922.92 102 1 150999737 . A G 922.92 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.998;DP=102;Dels=0.00;FS=6.646;HRun=1;HaplotypeScore=1.8533;MQ=59.35;MQ0=0;MQRankSum=-0.167;QD=9.05;ReadPosRankSum=-0.299;VQSLOD=4.9297;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:65,37:102:99:953,0,1754 1 151006539 151006539 C A exonic PRUNE1 synonymous SNV PRUNE1:NM_001303243:exon6:c.C588A:p.G196G,PRUNE1:NM_001303229:exon7:c.C645A:p.G215G,PRUNE1:NM_001303242:exon7:c.C1032A:p.G344G,PRUNE1:NM_021222:exon8:c.C1191A:p.G397G 0.51 0.44 0.52 0.6 0.5 0.52 0.8457 0.8195 0.8703 0.8703 0.8266 0.8560 0.8337 0.7989 0.85 0.82 0.87 0.73 0.79 rs3738476 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8485 0.8179 0.8691 0.8464 0.8739 0.8284 0.8606 0.8387 0.8000 0.8398 0.8138 0.8842 0.8808 0.8716 0.8281 0.8520 0.8248 hom 4703.86 155 1 151006539 . C A 4703.86 Mask AC=2;AF=1.00;AN=2;DP=155;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.7333;MQ=58.66;MQ0=0;QD=30.35;VQSLOD=9.0137;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,155:155:99:4703,391,0 1 151011325 151011325 C T exonic BNIPL nonsynonymous SNV BNIPL:NM_001159642:exon4:c.C10T:p.R4C,BNIPL:NM_138278:exon4:c.C256T:p.R86C 0.047 0.003 0.065 . 0.14 0.053 0.1010 0.0228 0.0436 0.0005 0.1119 0.1418 0.1130 0.0728 0.1 0.031 0.14 0.076 0.12 rs61751619 . . . . . . . . . . . . . 0.001 0.784 D 1.0 0.899 D 0.95 0.671 D 0.023 0.265 N 0.014 0.458 P 2.6 0.763 M 1.1 0.574 T -4.03 0.743 D 0.331 0.422 -0.433 0.710 T 0.280 0.652 T . . . 7.347 0.949 34 0.999 0.996 0.912 0.528 D c 0.712 0.665 1.000 0.415 0.615 0.372 0 5.15 0.702 2.075 0.409 0.920 0.431 1.000 0.715 0.993 0.574 14.012 0.639 . . . 0.0997 0.0209 0.0500 0.1084 0.0003 0.1153 0.1451 0.0978 0.0711 0.0960 0.0289 0.0644 0.1291 0.0018 0.1151 0.1395 0.1334 het 1070.24 88 1 151011325 . C T 1070.24 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-1.210;DP=88;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=6.0285;MQ=58.51;MQ0=0;MQRankSum=-0.471;QD=12.16;ReadPosRankSum=-0.930;VQSLOD=4.6052;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:45,42:88:99:1100,0,1278 1 151105824 151105824 C G exonic SEMA6C 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 0.76 0.54 0.79 0.9 0.81 0.83 0.8219 0.6405 0.8530 0.9228 0.8032 0.8229 0.8278 0.8306 0.73 0.59 0.81 0.7 0.52 rs4971006 COSM3750353;COSM3750352 1(thyroid);2(large_intestine) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.8066 0.5819 0.8306 0.8331 0.9188 0.7848 0.8030 0.8008 0.8261 0.7422 0.5887 0.8282 0.83 0.9210 0.7879 0.7915 0.7894 hom 287.88 11 1 151105824 . C G 287.88 Mask AC=2;AF=1.00;AN=2;DP=11;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.7887;MQ=57.87;MQ0=0;QD=26.17;VQSLOD=6.7007;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,11:11:27.07:321,27,0 1 151108137 151108137 T G exonic SEMA6C 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 0.82 0.76 0.81 0.9 0.82 0.84 0.8189 0.7720 0.8428 0.9196 0.7759 0.8098 0.8194 0.8327 0.8 0.78 0.81 0.85 0.88 rs4971007 . . . . . . . . . . . . . 0.536 0.069 T 0.0 0.026 B 0.0 0.013 B 0.000 0.537 N 0.990 0.242 P 0.87 0.215 L 2.84 0.107 T 0.71 0.022 N 0.098 0.100 -0.967 0.378 T 0.009 0.031 T . . . 2.148 0.319 17.17 0.876 0.168 0.189 0.202 N c -0.508 -0.333 1.000 0.747 0.778 0.996 0 4.64 0.572 0.500 0.221 0.073 0.181 0.940 0.324 0.945 0.419 10.287 0.426 Sema domain|WD40/YVTN repeat-like-containing domain ENSG00000143443.9|ENSG00000163155.7|ENSG00000197622.8|ENSG00000163141.14|ENSG00000197622.8|ENSG00000143443.9|ENSG00000143443.9|ENSG00000261168.1|ENSG00000163141.14 Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid 0.8197 0.7702 0.8403 0.8391 0.9188 0.7864 0.8063 0.8085 0.8349 0.7970 0.7722 0.8449 0.8344 0.9188 0.7887 0.7963 0.8057 hom 3227.04 100 1 151108137 . T G 3227.04 Mask AC=2;AF=1.00;AN=2;DP=100;Dels=0.00;FS=0.000;HRun=4;HaplotypeScore=0.0000;MQ=59.81;MQ0=0;QD=32.27;VQSLOD=9.8010;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,100:100:99:3260,253,0 1 151209063 151209063 C T exonic PIP5K1A synonymous SNV PIP5K1A:NM_001135636:exon8:c.C933T:p.Y311Y,PIP5K1A:NM_001135637:exon8:c.C930T:p.Y310Y,PIP5K1A:NM_001330689:exon8:c.C933T:p.Y311Y,PIP5K1A:NM_003557:exon8:c.C930T:p.Y310Y,PIP5K1A:NM_001135638:exon9:c.C969T:p.Y323Y 0.64 0.67 0.61 0.61 0.7 0.6 0.6618 0.6631 0.6352 0.6259 0.5970 0.6892 0.6788 0.6130 0.69 0.66 0.7 0.71 0.66 rs12407426 COSM4142615;COSM4142616 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6600 0.6647 0.6368 0.6473 0.6315 0.5980 0.6975 0.6576 0.6128 0.6708 0.6669 0.6360 0.6126 0.6464 0.5916 0.6982 0.6561 hom 1668.60 63 1 151209063 . C T 1668.60 Mask AC=2;AF=1.00;AN=2;DP=63;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=55.98;MQ0=2;QD=26.49;VQSLOD=6.9009;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,63:63:99:1702,129,0 1 151239051 151239051 T C exonic PSMD4 synonymous SNV PSMD4:NM_001330692:exon9:c.T960C:p.S320S,PSMD4:NM_002810:exon9:c.T951C:p.S317S 0.64 0.64 0.62 0.61 0.7 0.6 0.6640 0.6383 0.6394 0.6288 0.6015 0.6949 0.6810 0.6152 0.68 0.64 0.7 0.71 0.67 rs7489 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6607 0.6381 0.6371 0.6477 0.6314 0.5983 0.7021 0.6593 0.6133 0.6653 0.6412 0.6325 0.6126 0.6432 0.5912 0.7028 0.6507 hom 1519.81 59 1 151239051 . T C 1519.81 Mask AC=2;AF=1.00;AN=2;DP=59;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4718;MQ=60.00;MQ0=0;QD=25.76;VQSLOD=5.8409;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,59:59:99:1553,138,0 1 151288172 151288172 G A exonic PI4KB 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,PI4KB:NM_001330721:exon4:c.C786T:p.D262D 0.51 0.27 0.57 0.58 0.63 0.59 0.5932 0.3304 0.6124 0.5756 0.5389 0.6368 0.6258 0.5987 0.55 0.34 0.65 0.52 0.66 rs1056847 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.5978 0.3271 0.6072 0.6252 0.5774 0.5409 0.6440 0.6063 0.5968 0.5368 0.3366 0.5849 0.5894 0.5646 0.5330 0.6439 0.5918 hom 3495.34 102 1 151288172 . G A 3495.34 Mask AC=2;AF=1.00;AN=2;DP=102;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.5983;MQ=59.55;MQ0=0;QD=34.27;VQSLOD=9.9415;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,102:102:99:3495,298,0 1 151288391 151288391 A G exonic PI4KB 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,PI4KB:NM_001330721:exon4:c.T567C:p.D189D 0.98 0.92 1. 1. 1. 1. 0.9934 0.9273 0.9970 1 1 0.9999 0.9967 0.9998 0.98 0.93 1. 0.99 1. rs1752379 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9259 0.9963 1 0.9999 1 0.9999 0.9976 0.9997 0.9779 0.9229 0.9964 1 1 1 0.9997 0.9939 hom 5711.30 190 1 151288391 . A G 5711.30 Mask AC=2;AF=1.00;AN=2;DP=190;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.8937;MQ=60.00;MQ0=0;QD=30.06;VQSLOD=8.6742;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,190:190:99:5710,472,0 1 151315287 151315287 G C exonic RFX5 nonsynonymous SNV RFX5:NM_000449:exon11:c.C1226G:p.P409R,RFX5:NM_001025603:exon11:c.C1226G:p.P409R 0.064 0.003 0.099 . 0.17 0.075 0.1188 0.0269 0.0659 0.0005 0.1261 0.1618 0.1355 0.0980 0.12 0.035 0.16 0.11 0.09 rs2233854 COSM3750354 1(large_intestine) Likely benign|Benign SCID_due_to_absent_class_II_HLA_antigens|not_specified RCV000268166.1|RCV000454528.1 MedGen:OMIM:SNOMED_CT|MedGen C0242583:209920:71904008|CN169374 . . . . . . 0.001 0.784 D 0.435 0.391 B 0.12 0.306 B 0.126 0.188 N 0.984 0.248 P 1.845 0.488 L 1.32 0.352 T -1.3 0.408 N 0.22 0.373 -1.093 0.051 T 0.033 0.144 T . . . 1.879 0.287 15.46 0.985 0.413 0.588 0.305 D c -0.217 -0.216 0.998 0.359 0.707 0.730 0 3.26 0.363 1.782 0.381 0.108 0.203 0.839 0.300 0.011 0.114 8.749 0.336 RFX5\x2c C-terminal . . 0.1178 0.0250 0.0717 0.1159 0.0004 0.1252 0.1664 0.1171 0.0992 0.1128 0.0340 0.0754 0.1258 0.0018 0.1251 0.1673 0.1480 het 2653.67 242 1 151315287 . G C 2653.67 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-7.477;DP=242;DS;Dels=0.00;FS=0.520;HRun=0;HaplotypeScore=7.6247;MQ=59.26;MQ0=0;MQRankSum=-0.669;QD=10.97;ReadPosRankSum=-0.417;VQSLOD=4.1788;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:129,112:242:99:2684,0,3646 1 151316161 151316161 G A exonic RFX5 synonymous SNV RFX5:NM_000449:exon9:c.C753T:p.L251L,RFX5:NM_001025603:exon9:c.C753T:p.L251L 0.98 0.92 1. 1. 1. 1. 0.9934 0.9267 0.9970 1 1 0.9999 0.9967 0.9998 0.98 0.93 1. 0.99 0.93 rs1752386 . . Benign not_specified RCV000455174.1 MedGen CN169374 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9947 0.9253 0.9963 1 1 1 0.9999 0.9976 0.9998 0.9778 0.9227 0.9964 1 1 1 0.9997 0.9939 hom 2851.69 84 1 151316161 . G A 2851.69 Mask AC=2;AF=1.00;AN=2;DP=84;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=2.4947;MQ=59.03;MQ0=0;QD=33.95;VQSLOD=9.0679;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,84:84:99:2885,232,0 1 151337690 151337690 G C exonic SELENBP1 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 0.0014 . 0.0058 . 0.003 . 0.0015 0.0005 0.0004 0 0.0008 0.0024 0.0012 0 0.0014 0.0014 0.0014 . . rs146726959 . . . . . . . . . . . . . 0.131 0.266 T 0.0 0.067 B 0.001 0.063 B 0.379 0.134 N 1 0.090 N -0.705 0.018 N . . . -0.59 0.176 N 0.062 0.219 -1.055 0.130 T 0.032 0.138 T 0.003 0.078 T -0.025 0.091 2.350 0.717 0.094 0.042 0.096 N c -1.300 -1.305 0.975 0.296 0.632 0.406 0 -2.99 0.051 -0.945 0.040 -1.011 0.022 0.000 0.063 0.018 0.130 22.513 1.000 WD40/YVTN repeat-like-containing domain . . 0.0014 0.0004 0.0004 0.0002 0 0.0018 0.0025 0.0013 0 0.0013 0.0002 0.0012 0 0 0.0029 0.0017 0.0020 het 624.58 50 1 151337690 . G C 624.58 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=2.474;DP=50;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9578;MQ=58.78;MQ0=0;MQRankSum=-0.531;QD=12.49;ReadPosRankSum=0.551;VQSLOD=4.8045;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:24,26:50:99:655,0,540 1 151341570 151341570 C T exonic SELENBP1 synonymous SNV SELENBP1:NM_001258289:exon4:c.G396A:p.S132S,SELENBP1:NM_003944:exon4:c.G270A:p.S90S 0.0072 . 0.0058 . 0.028 0.0041 0.0164 0.0037 0.0072 0.0002 0.0426 0.0225 0.0122 0.0044 0.018 0.0043 0.025 . 0.0082 rs41284998 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0166 0.0034 0.0066 0.0022 0.0003 0.0417 0.0237 0.0139 0.0048 0.0180 0.0048 0.0095 0.0067 0 0.0461 0.0216 0.0193 het 2089.27 137 1 151341570 . C T 2089.27 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.667;DP=137;Dels=0.00;FS=1.407;HRun=0;HaplotypeScore=3.8609;MQ=58.79;MQ0=0;MQRankSum=-1.072;QD=15.25;ReadPosRankSum=1.150;VQSLOD=4.9472;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:59,78:137:99:2119,0,1382 1 151372138 151372138 G A exonic PSMB4 synonymous SNV PSMB4:NM_002796:exon1:c.G75A:p.P25P 0.49 0.33 0.47 0.21 0.83 0.67 0.6746 0.3679 0.3699 0.2253 0.7729 0.8191 0.7159 0.6900 0.67 0.39 0.82 0.48 0.8 rs7172 COSM3996916 4(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6680 0.3595 0.3947 0.7913 0.2228 0.7727 0.8214 0.7160 0.6879 0.6426 0.3709 0.5 0.79 0.2119 0.7784 0.8138 0.7429 hom 6158.26 199 1 151372138 . G A 6158.26 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=1.471;DP=199;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=7.2304;MQ=58.88;MQ0=0;MQRankSum=-1.349;QD=30.95;ReadPosRankSum=1.628;VQSLOD=5.5319;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:1,198:199:99:6126,459,0 1 151740666 151740666 T C exonic OAZ3 unknown UNKNOWN 1. 1. 1. 1. 1. 1. 0.9998 0.9976 0.9998 1 1 1 1 1 1. 1. 1. 1. . rs2495397 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9998 0.9974 0.9999 1 1 1 1 0.9998 1 0.9988 0.9960 1 1 1 1 1 0.9990 hom 1710.59 47 1 151740666 . T C 1710.59 Mask AC=2;AF=1.00;AN=2;DP=47;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.8311;MQ=59.60;MQ0=0;QD=36.40;VQSLOD=8.8733;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,47:47:99:1744,138,0 1 151820298 151820298 G C exonic THEM5 nonsynonymous SNV THEM5:NM_182578:exon5:c.C616G:p.L206V 1. 0.99 1. 1. 1. 1. 0.9988 0.9861 0.9997 1 1 1 1 1 1. 0.99 1. 0.98 1. rs6587624 . . . . . . . . . . . . . 0.788 0.032 T 0.0 0.026 B 0.001 0.040 B 0.089 0.204 N 1 0.090 P -1.215 0.008 N 2.4 0.156 T -0.2 0.102 N 0.087 0.349 -0.957 0.398 T 0.009 0.032 T . . . -1.113 0.028 0.009 0.423 0.031 0.001 0.008 N c -0.858 -0.875 0.999 0.382 0.447 0.083 0 3.13 0.349 0.008 0.130 0.000 0.135 0.007 0.175 0.090 0.185 3.983 0.089 HotDog domain|Thioesterase domain . . 0.9990 0.9850 0.9997 1 1 1 1.0000 0.9998 1 0.9958 0.9852 1 1 1 1 1 1 hom 3166.52 105 1 151820298 . G C 3166.52 Mask AC=2;AF=1.00;AN=2;DP=105;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9933;MQ=59.34;MQ0=0;QD=30.16;VQSLOD=8.9141;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,105:105:99:3200,247,0 1 151820324 151820324 T C exonic THEM5 nonsynonymous SNV THEM5:NM_182578:exon5:c.A590G:p.D197G 0.78 0.88 0.87 0.68 0.83 0.63 0.7861 0.8749 0.8821 0.6513 0.9032 0.8020 0.7841 0.6225 0.83 0.86 0.81 0.69 0.79 rs6587625 . . . . . . . . . . . . . 0.921 0.023 T 0.0 0.026 B 0.0 0.013 B 0.001 0.406 N 1.000 0.197 P -2.175 0.001 N 2.71 0.121 T 3.22 0.001 N 0.083 0.571 -0.965 0.383 T 0.009 0.031 T . . . 0.415 0.134 6.742 0.508 0.044 0.038 0.090 N c -0.472 -0.352 1.000 0.467 0.554 0.283 0 4.17 0.481 0.703 0.251 0.002 0.136 0.998 0.411 0.818 0.342 7.141 0.246 HotDog domain|Thioesterase domain ENSG00000159445.8|ENSG00000234614.1 Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg 0.7909 0.8750 0.8853 0.6049 0.6565 0.9036 0.8124 0.7951 0.6205 0.8357 0.8676 0.8684 0.61 0.6675 0.9030 0.8240 0.8082 hom 2869.03 91 1 151820324 . T C 2869.03 Mask AC=2;AF=1.00;AN=2;DP=91;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=0.0000;MQ=59.49;MQ0=0;QD=31.53;VQSLOD=9.7653;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,91:91:99:2902,226,0 1 151825991 151825991 G T exonic THEM5 synonymous SNV THEM5:NM_182578:exon1:c.C51A:p.G17G 0.63 0.74 0.56 0.66 0.69 0.42 0.6443 0.7405 0.5834 0.6253 0.8264 0.6736 0.6575 0.4440 0.69 0.72 0.68 0.63 0.63 rs7556386 COSM4142630 1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6469 0.7397 0.6065 0.4519 0.6326 0.8294 0.6851 0.6459 0.4441 0.7184 0.7402 0.6226 0.46 0.6525 0.8253 0.7012 0.6748 hom 5757.09 204 1 151825991 . G T 5757.09 Mask AC=2;AF=1.00;AN=2;DP=204;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.9909;MQ=58.97;MQ0=0;QD=28.22;VQSLOD=7.7804;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:5,199:204:99:5756,472,0 1 151867560 151867560 G A exonic THEM4 synonymous SNV THEM4:NM_053055:exon2:c.C210T:p.D70D 0.92 0.9 0.91 0.95 0.92 0.94 0.9148 0.9125 0.9121 0.9453 0.9138 0.9116 0.8877 0.9171 0.91 0.91 0.91 0.9 0.89 rs3762427 COSM5983438 1(upper_aerodigestive_tract) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9154 0.9126 0.9144 0.8937 0.9447 0.9165 0.9134 0.9110 0.9159 0.9126 0.9123 0.9117 0.9067 0.9352 0.9147 0.9107 0.9020 hom 3098.94 111 1 151867560 . G A 3098.94 Mask AC=2;AF=1.00;AN=2;DP=111;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.8149;MQ=50.25;MQ0=4;QD=27.92;VQSLOD=2.8641;culprit=MQ;set=variant GT:AD:DP:GQ:PL 1/1:4,107:111:99:3132,253,0 1 152085505 152085505 A C exonic TCHH nonsynonymous SNV TCHH:NM_007113:exon3:c.T188G:p.L63R 0.99 0.96 1. 1. 1. 1. 0.9970 0.9659 0.9984 1 1 0.9999 0.9989 0.9998 0.99 0.97 1. 0.99 1. rs2515663 . . . . . . . . . . . . . 1.0 0.010 T 0.197 0.279 B 0.003 0.080 B . . . 0.948 0.266 P -1.75 0.003 N 2.55 0.138 T 4.59 0.000 N 0.08 0.072 -0.948 0.413 T 0.003 0.009 T . . . 1.590 0.253 13.80 0.933 0.224 0.011 0.039 N c -1.068 -0.867 0.984 0.306 0.598 0.340 0 4.58 0.559 0.520 0.224 0.065 0.171 0.254 0.247 0.854 0.356 10.346 0.429 EF-Hand 1\x2c calcium-binding site|EF-hand domain|EF-hand domain pair|S100/Calbindin-D9k\x2c conserved site . . 0.9975 0.9648 0.9984 1 1 1 0.9999 0.9985 0.9998 0.9901 0.9659 0.9964 1 1 1 0.9997 0.9969 hom 1798.72 62 1 152085505 . A C 1798.72 Mask AC=2;AF=1.00;AN=2;DP=62;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.0000;MQ=59.30;MQ0=0;QD=29.01;VQSLOD=8.4978;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,62:62:99:1832,156,0 1 152191709 152191709 C G exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G2396C:p.S799T 0.53 0.47 0.55 0.33 0.83 0.51 0.7062 0.5120 0.5248 0.3894 0.8246 0.8285 0.7219 0.5783 0.73 0.52 0.83 0.65 0.84 rs6662450 COSM1180639 2(haematopoietic_and_lymphoid_tissue);1(upper_aerodigestive_tract) . . . . . . . . . . . 0.807 0.031 T 0.334 0.315 B 0.014 0.158 B . . . 1 0.090 P 2.095 0.583 M 3.47 0.052 T -0.82 0.225 N 0.033 0.013 -0.921 0.455 T 0.003 0.010 T . . . 0.114 0.105 3.757 0.461 0.036 0.119 0.167 N c -0.991 -1.046 0.001 0.076 0.487 0.133 0 2.17 0.266 -0.418 0.071 0.760 0.310 0.000 0.063 0.002 0.062 7.835 0.284 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.7026 0.5096 0.5378 0.6920 0.3887 0.8253 0.8363 0.7162 0.5809 0.7219 0.5213 0.6098 0.6954 0.4034 0.8242 0.8516 0.7771 het 2437.70 171 1 152191709 . C G 2437.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-2.307;DP=171;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.5036;MQ=59.40;MQ0=0;MQRankSum=-0.382;QD=14.26;ReadPosRankSum=-0.113;VQSLOD=5.0623;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:83,88:171:99:2468,0,2352 1 152191879 152191879 G A exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.C2226T:p.H742H 0.56 0.53 0.56 0.38 0.83 0.51 0.7143 0.5783 0.5271 0.4128 0.8243 0.8290 0.7269 0.5802 0.75 0.59 0.83 0.71 0.84 rs10788828 COSM5425303 2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7097 0.5774 0.5413 0.6956 0.4127 0.8252 0.8367 0.7226 0.5829 0.7432 0.5906 0.6146 0.6987 0.4269 0.8242 0.8523 0.7827 het 4073.40 250 1 152191879 . G A 4073.40 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.535;DP=250;DS;Dels=0.00;FS=4.457;HRun=0;HaplotypeScore=4.8311;MQ=59.40;MQ0=0;MQRankSum=0.724;QD=16.29;ReadPosRankSum=-1.383;VQSLOD=3.8494;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,124:250:99:3366,0,3328 1 152192555 152192555 T C exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1550G:p.Y517C 0.29 0.024 0.39 0.6 0.14 0.43 0.2286 0.0396 0.4476 0.5706 0.1683 0.1484 0.2335 0.3634 0.11 0.047 0.14 0.16 0.11 rs41266134 COSM4142667 1(thyroid) . . . . . . . . . . . 0.087 0.324 T 0.003 0.102 B 0.001 0.040 B . . . 1 0.090 P 2.36 0.681 M 4.67 0.018 T -1.31 0.328 N 0.082 0.075 -0.915 0.462 T 0.001 0.003 T . . . -1.570 0.015 0.002 0.454 0.035 0.003 0.014 N c -1.753 -1.875 0.005 0.108 0.554 0.283 0 -6.02 0.020 -6.226 0.001 -0.889 0.027 0.000 0.063 0.000 0.016 0.352 0.003 . ENSG00000197915.5|ENSG00000143631.10|ENSG00000163207.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Heart_Left_Ventricle|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Thyroid|Thyroid|Thyroid 0.2408 0.0360 0.4297 0.2799 0.5678 0.1673 0.1399 0.2413 0.3603 0.1385 0.0413 0.3556 0.2748 0.5562 0.1663 0.1262 0.1810 het 4411.91 250 1 152192555 . T C 4411.91 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.362;DP=250;DS;Dels=0.00;FS=4.368;HRun=0;HaplotypeScore=5.3818;MQ=59.52;MQ0=0;MQRankSum=1.956;QD=17.65;ReadPosRankSum=-1.298;VQSLOD=2.8804;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:125,125:250:99:3704,0,3435 1 152192631 152192631 C T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G1474A:p.G492R 0.56 0.53 0.56 0.38 0.83 0.51 0.7142 0.5772 0.5270 0.4129 0.8243 0.8290 0.7269 0.5803 0.75 0.59 0.83 0.6 0.84 rs6587647 COSM3996925 3(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . 0.0 0.912 D 0.105 0.244 B 0.007 0.121 B . . . 1 0.090 P 1.77 0.460 L 3.37 0.059 T -3.94 0.733 D 0.061 0.045 -0.916 0.461 T 0.004 0.014 T . . . 0.349 0.128 6.160 0.530 0.048 0.002 0.009 N c -1.410 -1.508 0.000 0.042 0.554 0.283 0 -3.36 0.046 -3.280 0.006 -0.832 0.030 0.000 0.063 0.000 0.016 8.767 0.337 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.7097 0.5775 0.5412 0.6956 0.4126 0.8253 0.8367 0.7226 0.5830 0.7421 0.5893 0.6175 0.7 0.4261 0.8239 0.8513 0.7803 het 4688.82 250 1 152192631 . C T 4688.82 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=5.763;DP=250;DS;Dels=0.00;FS=2.920;HRun=0;HaplotypeScore=7.9810;MQ=59.15;MQ0=0;MQRankSum=-1.127;QD=18.76;ReadPosRankSum=-0.124;VQSLOD=2.6034;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:118,132:250:99:3974,0,3103 1 152192687 152192687 T C exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1418G:p.E473G 0.94 0.79 0.98 1. 1. 1. 0.9857 0.8434 0.9947 0.9997 1 0.9996 0.9901 0.9998 0.95 0.85 1. 0.88 1. rs6587648 . . . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P -1.905 0.002 N 4.63 0.019 T 1.82 0.005 N 0.04 0.020 -0.989 0.328 T 0.001 0.003 T . . . -0.603 0.050 0.123 0.739 0.102 0.002 0.009 N c -1.820 -1.810 0.000 0.029 0.554 0.283 0 -0.456 0.115 -0.100 0.109 -0.577 0.045 0.000 0.063 0.000 0.016 6.671 0.221 . . . 0.9890 0.8433 0.9935 0.9999 1 1 0.9996 0.9934 0.9995 0.9571 0.8506 0.9916 1 1 1 0.9993 0.9929 hom 9064.67 250 1 152192687 . T C 9064.67 Mask AC=2;AF=1.00;AN=2;DP=250;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=59.28;MQ0=0;QD=36.26;VQSLOD=9.1164;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,250:250:99:9064,719,0 1 152192825 152192825 C T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G1280A:p.G427D 0.35 0.21 0.28 0.29 0.59 0.39 0.4962 0.2507 0.2859 0.3500 0.6308 0.5938 0.5055 0.4261 0.48 0.26 0.59 0.29 0.59 rs6666097 COSM5425304 2(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.009 0.574 D 0.895 0.473 P 0.356 0.412 B . . . 1 0.090 P 2.395 0.694 M 3.69 0.041 T -2.21 0.496 N 0.089 0.086 -0.886 0.493 T 0.004 0.012 T . . . 0.157 0.109 4.223 0.718 0.094 0.013 0.045 N c -0.641 -0.807 0.000 0.029 0.554 0.246 0 0.311 0.150 -2.616 0.009 0.756 0.309 0.000 0.063 0.001 0.043 3.523 0.073 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143520.6|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Uterus 0.4923 0.2513 0.2977 0.4456 0.3501 0.6313 0.5998 0.4974 0.4274 0.4974 0.2610 0.3437 0.4669 0.3632 0.6377 0.6219 0.5666 het 2860.70 222 1 152192825 . C T 2860.70 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-8.533;DP=222;DS;Dels=0.00;FS=5.689;HRun=0;HaplotypeScore=4.3230;MQ=59.11;MQ0=0;MQRankSum=-0.492;QD=12.89;ReadPosRankSum=-0.652;VQSLOD=4.2352;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:114,107:222:99:2891,0,3407 1 152192978 152192978 T C exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.A1127G:p.Q376R 0.94 0.79 0.98 1. 1. 1. 0.9858 0.8434 0.9947 1 1 0.9996 0.9901 0.9998 0.95 0.85 1. 0.99 1. rs6587649 . . . . . . . . . . . . . 0.122 0.276 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 P 1.66 0.426 L 4.04 0.032 T -0.61 0.181 N 0.01 0.001 -0.909 0.470 T 0.002 0.005 T . . . -1.796 0.011 0.002 0.349 0.022 0.009 0.036 N c -1.967 -2.055 0.766 0.236 0.554 0.246 0 -8.53 0.008 -3.176 0.006 -2.900 0.002 0.000 0.063 0.000 0.016 8.919 0.346 . . . 0.9890 0.8433 0.9935 0.9999 1 1.0000 0.9996 0.9938 0.9995 0.9570 0.8503 0.9916 1 1 0.9997 0.9993 0.9928 hom 8001.23 249 1 152192978 . T C 8001.23 Mask AC=2;AF=1.00;AN=2;DP=249;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.6988;MQ=59.19;MQ0=0;QD=32.13;VQSLOD=9.4751;culprit=FS;set=variant GT:AD:DP:GQ:PL 1/1:0,249:249:99:7999,677,0 1 152193286 152193286 G T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.C819A:p.H273Q 0.35 0.21 0.28 0.29 0.59 0.39 0.4964 0.2538 0.2861 0.3485 0.6308 0.5937 0.5066 0.4261 0.48 0.26 0.59 0.32 0.58 rs7545406 COSM146613 1(stomach);2(haematopoietic_and_lymphoid_tissue);4(prostate) . . . . . . . . . . . 0.237 0.179 T 0.001 0.067 B 0.001 0.040 B . . . 1 0.090 P 1.825 0.480 L 4.09 0.030 T -0.23 0.107 N 0.014 0.002 -0.901 0.480 T 0.001 0.003 T . . . -2.245 0.005 0.001 0.624 0.068 0.001 0.008 N c -2.211 -2.311 0.932 0.270 0.487 0.133 0 -8.81 0.007 -2.345 0.012 -3.409 0.001 0.000 0.063 0.000 0.016 0.981 0.013 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143520.6|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Prostate|Prostate|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Uterus|Uterus|Uterus 0.4925 0.2544 0.2979 0.4455 0.3500 0.6313 0.5998 0.4974 0.4274 0.4977 0.2640 0.3398 0.4669 0.3611 0.6375 0.6214 0.5629 het 4097.83 249 1 152193286 . G T 4097.83 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-4.383;DP=249;DS;Dels=0.00;FS=2.845;HRun=1;HaplotypeScore=7.8084;MQ=58.95;MQ0=0;MQRankSum=0.897;QD=16.46;ReadPosRankSum=0.047;VQSLOD=3.7051;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:132,117:249:99:3387,0,4082 1 152193291 152193291 G T exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.C814A:p.R272R 0.56 0.53 0.56 0.38 0.83 0.51 0.7141 0.5780 0.5271 0.4110 0.8243 0.8290 0.7269 0.5802 0.75 0.59 0.83 0.71 0.84 rs6587652 COSM146614 2(haematopoietic_and_lymphoid_tissue);1(stomach) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7096 0.5772 0.5412 0.6956 0.4126 0.8252 0.8367 0.7225 0.5829 0.7413 0.5884 0.6118 0.6987 0.4234 0.8238 0.8511 0.7780 het 4065.34 250 1 152193291 . G T 4065.34 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=6.000;DP=250;DS;Dels=0.00;FS=6.980;HRun=2;HaplotypeScore=6.7689;MQ=58.85;MQ0=0;MQRankSum=1.923;QD=16.26;ReadPosRankSum=-0.543;VQSLOD=3.1664;culprit=FS;set=variant GT:AD:DP:GQ:PL 0/1:135,115:250:99:3372,0,3502 1 152193544 152193544 A G exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.T561C:p.H187H 0.53 0.47 0.55 0.33 0.83 0.51 0.7062 0.5122 0.5246 0.3890 0.8243 0.8285 0.7219 0.5787 0.73 0.52 0.83 0.65 0.84 rs7535536 COSM146615 1(stomach);2(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.7027 0.5101 0.5379 0.6920 0.3884 0.8253 0.8363 0.7162 0.5812 0.7222 0.5216 0.6089 0.6954 0.4065 0.8237 0.8517 0.7796 het 2411.21 166 1 152193544 . A G 2411.21 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=7.895;DP=166;DS;Dels=0.00;FS=2.273;HRun=1;HaplotypeScore=3.6282;MQ=59.49;MQ0=0;MQRankSum=0.286;QD=14.53;ReadPosRankSum=0.673;VQSLOD=5.4601;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:84,82:166:99:2441,0,2415 1 152193547 152193547 G A exonic HRNR synonymous SNV HRNR:NM_001009931:exon3:c.C558T:p.S186S 0.94 0.79 0.98 1. 1. 1. 0.9858 0.8432 0.9947 1 1 0.9996 0.9901 0.9998 0.95 0.85 1. 0.99 1. rs6587653 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9890 0.8433 0.9935 0.9999 1 1 0.9996 0.9934 0.9995 0.9570 0.8498 0.9916 1 1 1 0.9993 0.9929 hom 5773.36 164 1 152193547 . G A 5773.36 Mask AC=2;AF=1.00;AN=2;DP=164;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=3.8820;MQ=59.48;MQ0=0;QD=35.20;VQSLOD=8.4097;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 1/1:0,164:164:99:5773,460,0 1 152193851 152193851 C T exonic HRNR nonsynonymous SNV HRNR:NM_001009931:exon3:c.G254A:p.R85H 0.53 0.47 0.55 0.33 0.83 0.51 0.7062 0.5128 0.5252 0.3880 0.8243 0.8284 0.7219 0.5788 0.73 0.52 0.83 0.64 0.83 rs11204937 COSM3996926 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . 0.402 0.104 T 0.0 0.026 B 0.0 0.013 B . . . 1.000 0.209 P -0.69 0.019 N 3.31 0.063 T 1.36 0.009 N 0.037 0.017 -0.915 0.463 T 0.002 0.007 T . . . 1.036 0.193 10.87 0.625 0.068 0.447 0.271 N c -1.219 -1.043 0.000 0.029 0.595 0.332 0 0.954 0.186 0.506 0.222 -1.985 0.005 1.000 0.715 0.000 0.016 7.362 0.258 EF-hand domain pair ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Cells_Transformed_fibroblasts|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Thyroid|Thyroid|Thyroid 0.7026 0.5103 0.5380 0.6919 0.3883 0.8254 0.8363 0.7162 0.5812 0.7224 0.5230 0.6098 0.6954 0.4012 0.8236 0.8520 0.7786 het 1701.69 110 1 152193851 . C T 1701.69 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=0.870;DP=110;Dels=0.00;FS=2.476;HRun=0;HaplotypeScore=0.9159;MQ=59.43;MQ0=0;MQRankSum=-0.816;QD=15.47;ReadPosRankSum=-0.199;VQSLOD=6.4481;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:47,63:110:99:1732,0,1280 1 152195729 152195729 T - exonic HRNR startloss HRNR:NM_001009931:exon2:c.1delA:p.P2Ffs*14 0.87 0.73 0.88 0.95 0.96 0.89 0.7530 0.6723 0.7212 0.7208 0.7655 0.7694 0.7599 0.7773 . . . . . rs530205886 COSM111478 2(ovary);2(upper_aerodigestive_tract);5(central_nervous_system) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.9028 0.7227 0.8276 0.9554 0.9063 0.9541 0.9411 0.9142 0.9069 0.9402 0.8073 0.9367 1 0.9932 0.9970 0.9975 0.9806 hom 1025.28 63 1 152195728 . AT A 1025.28 Mask AC=2;AF=1.00;AN=2;BaseQRankSum=-1.299;DP=63;FS=0.000;HRun=11;HaplotypeScore=175.9091;MQ=58.18;MQ0=0;MQRankSum=0.433;QD=16.27;ReadPosRankSum=0.072;set=variant2 GT:AD:DP:GQ:PL 1/1:13,47:63:99:1067,109,0 1 152276889 152276889 A G exonic FLG synonymous SNV FLG:NM_002016:exon3:c.T10473C:p.N3491N 0.52 0.79 0.46 0.65 0.15 0.46 0.3007 0.7136 0.4828 0.5955 0.1741 0.1563 0.2753 0.3950 0.33 0.69 0.15 0.34 0.11 rs3126067 COSM3996931 1(haematopoietic_and_lymphoid_tissue) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3003 0.7195 0.4690 0.2978 0.5952 0.1728 0.1479 0.2800 0.3924 0.3308 0.6970 0.4038 0.2872 0.5775 0.1718 0.1322 0.2195 het 2807.25 248 1 152276889 . A G 2807.25 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=-5.215;DP=248;DS;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.2590;MQ=56.95;MQ0=1;MQRankSum=0.209;QD=11.32;ReadPosRankSum=0.053;VQSLOD=3.7358;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:141,107:248:99:2837,0,4187 1 152277345 152277345 C T exonic FLG synonymous SNV FLG:NM_002016:exon3:c.G10017A:p.Q3339Q 0.29 0.011 0.39 0.58 0.14 0.43 0.2293 0.0312 0.4480 0.5600 0.1730 0.1495 0.2313 0.3733 0.11 0.036 0.14 0.14 0.11 rs2065956 COSM3996933 1(haematopoietic_and_lymphoid_tissue);1(thyroid) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2422 0.0286 0.4292 0.2814 0.5591 0.1717 0.1415 0.2423 0.3711 0.1370 0.0346 0.3565 0.2748 0.5479 0.1697 0.1271 0.1779 het 3146 248 1 152277345 . C T 3146 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.072;DP=248;DS;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=12.6094;MQ=58.58;MQ0=2;MQRankSum=2.173;QD=12.69;ReadPosRankSum=-0.529;VQSLOD=2.2472;culprit=HaplotypeScore;set=variant GT:AD:DP:GQ:PL 0/1:138,110:248:99:3176,0,4175 1 152277396 152277396 T C exonic FLG synonymous SNV FLG:NM_002016:exon3:c.A9966G:p.Q3322Q 0.34 0.12 0.42 0.61 0.17 0.49 0.2611 0.1267 0.4638 0.5814 0.1810 0.1719 0.2511 0.4299 0.16 0.13 0.17 0.2 0.16 rs6681433 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2721 0.1287 0.4474 0.3061 0.5786 0.1796 0.1644 0.2678 0.4277 0.1772 0.1296 0.3717 0.3013 0.5631 0.1801 0.1483 0.1926 het 4381.22 249 1 152277396 . T C 4381.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=1.094;DP=249;DS;Dels=0.00;FS=2.168;HRun=1;HaplotypeScore=4.5556;MQ=59.20;MQ0=0;MQRankSum=-1.133;QD=17.60;ReadPosRankSum=0.579;VQSLOD=4.0377;culprit=MQRankSum;set=variant GT:AD:DP:GQ:PL 0/1:127,122:249:99:3658,0,3688 1 152281007 152281007 A G exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.T6355C:p.Y2119H 0.33 0.38 0.34 0.44 0.13 0.34 0.2207 0.3608 0.3523 0.4116 0.1550 0.1381 0.2280 0.3001 0.2 0.33 0.13 . 0.11 rs7512553 COSM5037981 1(skin) . . . . . . . . . . . 1.0 0.010 T 0.0 0.026 B 0.0 0.013 B . . . 1 0.090 N -2.52 0.001 N 4.33 0.024 T 1.18 0.011 N 0.012 0.001 -0.997 0.308 T 0.001 0.002 T . . . -1.763 0.012 0.002 0.406 0.029 0.000 0.002 N c -2.146 -2.020 0.000 0.029 0.554 0.246 0 1.28 0.206 -0.189 0.095 -0.554 0.047 0.000 0.063 0.000 0.016 3.517 0.072 . . . 0.2243 0.3640 0.3447 0.2452 0.4126 0.1544 0.1318 0.2236 0.2979 0.2135 0.3618 0.2988 0.2282 0.4062 0.1514 0.1187 0.1830 het 2479.43 250 1 152281007 . A G 2479.43 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=4.847;DP=250;DS;Dels=0.00;FS=2.317;HRun=0;HaplotypeScore=8.8450;MQ=57.02;MQ0=1;MQRankSum=1.280;QD=9.92;ReadPosRankSum=0.824;VQSLOD=2.3650;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:158,92:250:99:2509,0,4728 1 152281008 152281008 A G exonic FLG synonymous SNV FLG:NM_002016:exon3:c.T6354C:p.H2118H 0.33 0.38 0.34 0.44 0.13 0.34 0.2207 0.3608 0.3522 0.4116 0.1550 0.1381 0.2280 0.3001 0.19 0.33 0.13 . 0.11 rs7512554 COSM5038015 1(skin) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.2243 0.3640 0.3447 0.2452 0.4126 0.1544 0.1318 0.2236 0.2979 0.2134 0.3616 0.2988 0.23 0.4058 0.1512 0.1184 0.1836 het 2414.22 250 1 152281008 . A G 2414.22 Mask AC=1;AF=0.50;AN=2;BaseQRankSum=3.919;DP=250;DS;Dels=0.00;FS=5.575;HRun=0;HaplotypeScore=7.9292;MQ=57.23;MQ0=1;MQRankSum=0.208;QD=9.66;ReadPosRankSum=1.416;VQSLOD=2.2117;culprit=QD;set=variant GT:AD:DP:GQ:PL 0/1:160,90:250:99:2444,0,4839 1 152281039 152281039 G A exonic FLG nonsynonymous SNV FLG:NM_002016:exon3:c.C6323T:p.A2108V . . . . . . 0.2208 0.3621 0.3521 0.4111 0.1550 0.1382 0.2269 0.3001 0.21 0.36 0.13 0.054 0.11 rs7522925 COSM4142692 1(skin);1(thyroid) . . . . . . . . . . . 0.115 0.285 T 0.324 0.313 B 0.021 0.181 B . . . 1 0.090 N 1.1 0.281 L 4.67 0.018 T -1.27 0.320 N 0.011 0.001 -0.931 0.441 T 0.001 0.004 T . . . 0.896 0.179 10.05 0.386 0.026 0.006 0.025 N c -1.813 -1.956 0.013 0.124 0.554 0.246 0 -6.74 0.016 -3.262 0.006 -1.948 0.005 0.000 0.063 0.000 0.016 6.099 0.191 . ENSG00000143631.10|ENSG00000197915.5|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000237975.2|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2|ENSG00000197915.5|ENSG00000197915.5|ENSG00000197915.5|ENSG00000236427.1|ENSG00000143631.10|ENSG00000197915.5|ENSG00000237975.2 Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Heart_Left_Ventricle|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Stomach|Testis|T