Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene avsift abraom_freq abraom_filter abraom_cegh_filter CADD13_RawScore CADD13_PHRED CLNALLELEID CLNDN CLNDISDB CLNREVSTAT CLNSIG dbscSNV_ADA_SCORE dbscSNV_RF_SCORE esp6500siv2_all esp6500siv2_ea ExAC_ALL ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS ExAC_nontcga_ALL ExAC_nontcga_AFR ExAC_nontcga_AMR ExAC_nontcga_EAS ExAC_nontcga_FIN ExAC_nontcga_NFE ExAC_nontcga_OTH ExAC_nontcga_SAS DN ID Patient ID Phenotype Platform Study Pubmed ID avsnp150 gerp++elem GME_AF GME_NWA GME_NEA GME_AP GME_Israel GME_SD GME_TP GME_CA GWAVA_region_score GWAVA_tss_score GWAVA_unmatched_score HRC_AF HRC_AC HRC_AN HRC_non1000G_AF HRC_non1000G_AC HRC_non1000G_AN CADD13_RawScore CADD13_PHRED InterVar_automated PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM3 PM4 PM5 PM6 PP1 PP2 PP3 PP4 PP5 BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP3 BP4 BP5 BP6 BP7 MCAP13 MitImpact_id Gene_symbol OXPHOS_complex Ensembl_gene_id Ensembl_protein_id Ensembl_transcript_id Uniprot_name Uniprot_id Ncbi_gene_id Ncbi_protein_id Gene_position AA_position AA_ref AA_alt Codon_substitution PhyloP_100V PhastCons_100V SiteVar PolyPhen2 PolyPhen2_score SIFT SIFT_score FatHmm_pred FatHmm_score FatHmmW FatHmmW_score PROVEAN PROVEAN_score MutationAssessor MutationAssessor_score EFIN_SP_score EFIN_SP EFIN_HD_score EFIN_HD CADD_score CADD_phred CADD VEST_pvalue VEST_FDR PANTHER_score PANTHER PhD-SNP_score PhD-SNP SNAP_score SNAP Meta-SNP_score Meta-SNP Meta-SNP_RI CAROL_score CAROL Condel_score Condel COVEC_WMV_score COVEC_WMV PolyPhen2_transf_score PolyPhen2_transf SIFT_transf_score SIFT_transf MutationAssessor_transf_score MutationAssessor_transf CHASM_pvalue CHASM_FDR MISTIC_coevo_sites MISTIC_mean_MI_score COSMIC_id COSMIC_tumor_site COSMIC_samples COSMIC_frequency dbSNP_id Variant_status Associated_disease Variant_class APOGEE_probN APOGEE_probP APOGEE nci60 REVEL AF AF_popmax AF_male AF_female AF_raw AF_afr AF_sas AF_amr AF_eas AF_nfe AF_fin AF_asj AF_oth non_topmed_AF_popmax non_neuro_AF_popmax non_cancer_AF_popmax controls_AF_popmax gerp++gt2 ICGC_Id ICGC_Occurrence Kaviar_AF Kaviar_AC Kaviar_AN SIFT_score SIFT_pred Polyphen2_HDIV_score Polyphen2_HDIV_pred Polyphen2_HVAR_score Polyphen2_HVAR_pred LRT_score LRT_pred MutationTaster_score MutationTaster_pred MutationAssessor_score MutationAssessor_pred FATHMM_score FATHMM_pred RadialSVM_score RadialSVM_pred LR_score LR_pred VEST3_score CADD_raw CADD_phred GERP++_RS phyloP46way_placental phyloP100way_vertebrate SiPhy_29way_logOdds Eigen PopFreqMax 1000G_ALL 1000G_AFR 1000G_AMR 1000G_EAS 1000G_EUR 1000G_SAS ExAC_ALL ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS ESP6500siv2_ALL ESP6500siv2_AA ESP6500siv2_EA CG46 example_db_generic regsnp_fpr regsnp_disease regsnp_splicing_site gerp++gt2 Otherinfo chr1 14677 14677 G A ncRNA_exonic WASH7P . . . . 0.055556 VQSRTrancheSNP99.00to99.90 FAB . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs201327123 . . . . . . . . . 0.65 0.25 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0235 0.0543 0.0221 0.0251 0.0610 0.0036 . 0.0303 0.0543 0.0331 0.0251 0.0198 0.0219 0.0550 0.0543 . 0.0512 . MU27085 LAML-KR|1|205|0.00487805,LUSC-KR|3|170|0.0176471 0.0003074 8 26028 . . . . . . . . . . . . . . . . . . . . . . . . . -0.0605 . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 . 28 chr1 14677 . G A . . AS_SB_TABLE=35,11|4,1;DP=51;ECNT=9;MBQ=37,37;MFRL=267,243;MMQ=48,48;MPOS=23;POPAF=1.62;TLOD=10.16 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:21,2:0.083:23:2,0:14,1:21,1:16,5,1,1 0/1:25,3:0.147:28:14,3:5,0:22,3:19,6,3,0 chr1 14699 14699 C G ncRNA_exonic WASH7P . . . . 0.053435 VQSRTrancheSNP99.00to99.90 FAB . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs62635298 . . . . . . . . . 0.58 0.29 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3413 0.4288 0.3304 0.3552 0.3618 0.1709 . 0.4288 0.0965 0.4121 0.4583 0.4078 0.4018 0.4291 0.4242 . 0.4382 . MU17978155 LAML-KR|2|205|0.0097561 0.0009314 144 154602 . . . . . . . . . . . . . . . . . . . . . . . . . 0.3297 . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 . 40 chr1 14699 . C G . . AS_SB_TABLE=43,17|5,0;DP=67;ECNT=9;MBQ=37,37;MFRL=262,295;MMQ=48,27;MPOS=13;POPAF=0.473;TLOD=7.81 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:24,1:0.076:25:2,1:16,0:23,1:18,6,1,0 0/1:36,4:0.135:40:21,1:4,3:31,4:25,11,4,0 chr1 14815 14815 C T ncRNA_exonic WASH7P . . . 0.75 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.58 0.3 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3.346e-05 0.0007 0 7.505e-05 0.0016 0 . 0 0.0007 0 0 0 0 0.0007 0.0007 . . . MU13800533 LAML-KR|4|205|0.0195122,LUSC-KR|1|170|0.00588235,GACA-CN|1|123|0.00813008 0.0001153 3 26028 . . . . . . . . . . . . . . . . . . . . . . . . . 0.7698 . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 . 63 chr1 14815 . C T . . AS_SB_TABLE=46,49|6,6;DP=109;ECNT=1;MBQ=37,20;MFRL=245,186;MMQ=40,28;MPOS=50;POPAF=4.47;TLOD=18.23 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:34,10:0.162:44:10,3:20,2:30,5:16,18,5,5 0/1:61,2:0.038:63:28,0:18,1:49,1:30,31,1,1 chr1 14907 14907 A G ncRNA_intronic WASH7P . . . . 0.541082 VQSRTrancheSNP99.00to99.90 WK-LowCall . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs6682375 . . . . . . . . . 0.47 0.28 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4959 0.5110 0.4947 0.4974 0.4949 0.4862 . 0.5110 0.4284 0.5022 0.5086 0.5147 0.5067 0.5102 0.5075 . 0.5169 . MU64261596 LICA-CN|1|402|0.00248756 0.0729215 1898 26028 . . . . . . . . . . . . . . . . . . . . . . . . . -0.2424 . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 . 68 chr1 14907 . A G . . AS_SB_TABLE=58,52|8,13;DP=131;ECNT=5;MBQ=37,25;MFRL=248,215;MMQ=48,47;MPOS=45;POPAF=0.305;TLOD=41.13 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,8:0.123:63:18,5:22,1:49,6:31,24,4,4 0/1:55,13:0.204:68:21,5:15,4:42,10:27,28,4,9 chr1 14930 14930 A G ncRNA_intronic WASH7P . . . . 0.529412 VQSRTrancheSNP99.00to99.90 WK-LowCall . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs6682385 . . . . . . . . . 0.45 0.3 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4941 0.5145 0.4928 0.4957 0.4933 0.4775 . 0.5145 0.4314 0.5026 0.5090 0.5213 0.5086 0.5127 0.5094 . 0.5128 . MU20833748 LAML-KR|1|205|0.00487805 0.162364 4226 26028 . . . . . . . . . . . . . . . . . . . . . . . . . -0.4441 0.52 0.48 0.48 0.52 0.41 0.52 0.49 . . . . . . . . . . . . . . . . . . 0.5 . 63 chr1 14930 . A G . . AS_SB_TABLE=52,53|8,15;DP=128;ECNT=5;MBQ=25,20;MFRL=228,215;MMQ=48,47;MPOS=44;POPAF=0.307;TLOD=83.53 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:56,9:0.135:65:15,5:24,1:44,6:0|1:14930_A_G:14930:31,25,4,5 0|1:49,14:0.220:63:15,5:11,4:38,10:0|1:14930_A_G:14930:21,28,4,10 chr1 14932 14932 G T ncRNA_intronic WASH7P . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.49 0.31 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0015 0.0379 0.0017 0.0013 0.0116 0 . 0 0.0379 0.0001 0 0 0 0.0379 0.0379 . 0.0439 . MU20833804 LAML-KR|2|205|0.0097561,LUSC-KR|1|170|0.00588235 0.0001153 3 26028 . . . . . . . . . . . . . . . . . . . . . . . . . -1.0620 . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 . 61 chr1 14932 . G T . . AS_SB_TABLE=56,56|4,6;DP=131;ECNT=5;MBQ=20,37;MFRL=225,256;MMQ=48,23;MPOS=28;POPAF=2.80;TLOD=15.38 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:55,6:0.104:61:20,1:16,3:42,4:31,24,4,2 0/1:57,4:0.103:61:20,0:16,0:42,4:25,32,0,4 chr1 14933 14933 G A ncRNA_intronic WASH7P . . . . 0.086142 VQSRTrancheSNP99.00to99.90 WK-LowCall . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs199856693 . . . . . . . . . 0.49 0.29 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0645 0.0951 0.0604 0.0695 0.1469 0.0087 . 0.0747 0.0385 0.0951 0.1072 0.1373 0.0890 0.0992 0.0922 . 0.1180 . MU13873078 LAML-KR|2|205|0.0097561,LUSC-KR|1|170|0.00588235 0.0022186 343 154602 . . . . . . . . . . . . . . . . . . . . . . . . . -0.3694 0.051 0.028 0.0015 0.037 0.027 0.051 0.037 . . . . . . . . . . . . . . . . . . 0.5 . 61 chr1 14933 . G A . . AS_SB_TABLE=52,47|8,15;DP=127;ECNT=5;MBQ=37,20;MFRL=227,215;MMQ=48,47;MPOS=46;POPAF=1.20;TLOD=84.03 GT:AD:AF:DP:F1R2:F2R1:FAD:PGT:PID:PS:SB 0|1:52,9:0.146:61:16,5:20,1:40,6:0|1:14930_A_G:14930:31,21,4,5 0|1:47,14:0.229:61:14,5:12,4:36,10:0|1:14930_A_G:14930:21,26,4,10 chr1 14976 14976 G A ncRNA_exonic WASH7P . . . 0 0.079470 VQSRTrancheSNP99.00to99.90 FDP . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs71252251 . . . . . . . . . 0.63 0.29 182 . . . . . . 0.895064 10.05 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.0691 0.1030 0.0651 0.0741 0.1454 0.0096 . 0.0864 0.0387 0.1030 0.1106 0.135 0.0955 0.1060 0.1018 . 0.1333 . MU609290 SKCA-BR|1|100|0.01,LAML-KR|2|205|0.0097561,LUSC-KR|2|170|0.0117647 0.0047641 124 26028 . . . . . . . . . . . . . . . . . . . . . . . . . 0.5489 . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 . 48 chr1 14976 . G A . . AS_SB_TABLE=38,48|5,11;DP=104;ECNT=5;MBQ=20,20;MFRL=228,205;MMQ=48,47;MPOS=33;POPAF=1.17;TLOD=33.88 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:47,7:0.143:54:14,2:12,1:35,5:23,24,2,5 0/1:39,9:0.194:48:6,2:9,3:28,6:15,24,3,6 chr1 15118 15118 A G ncRNA_intronic WASH7P . . . . 0.390625 VQSRTrancheSNP99.00to99.90 WK-LowCall . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs11580262 . . . . . . . . . 0.48 0.35 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.4466 0.4676 0.4442 0.4497 0.4397 0.4300 . 0.4676 0.3456 0.4615 0.4589 0.4867 0.4494 0.4666 0.4621 . 0.4818 . MU14016488 SKCA-BR|1|100|0.01,LICA-CN|1|402|0.00248756,LAML-KR|3|205|0.0146341,COCA-CN|1|321|0.00311526 0.0603965 1572 26028 . . . . . . . . . . . . . . . . . . . . . . . . . -0.2062 . . . . . . . . . . . . . . . . . . . . . . . . . 0.5 . 13 chr1 15118 . A G . . AS_SB_TABLE=2,20|2,3;DP=27;ECNT=1;MBQ=37,20;MFRL=310,246;MMQ=27,27;MPOS=17;POPAF=0.350;TLOD=9.35 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:13,1:0.125:14:6,1:7,0:13,1:1,12,0,1 0/1:9,4:0.250:13:2,2:6,0:8,2:1,8,2,2 chr1 15211 15211 T G ncRNA_intronic WASH7P . . . . 0.678030 VQSRTrancheSNP99.00to99.90 WK-LowCall . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs3982632 . . . . . . . . . 0.44 0.36 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6095 0.6534 0.6058 0.6142 0.6145 0.5339 . 0.6534 0.4799 0.6462 0.6734 0.7101 0.6379 0.6544 0.6491 . 0.6583 . MU655850 LAML-KR|2|205|0.0097561 0.210696 5484 26028 . . . . . . . . . . . . . . . . . . . . . . . . . -0.3134 0.73 0.61 0.54 0.68 0.5 0.73 0.64 . . . . . . . . . . . . . . . . . . 0.5 . 5 chr1 15211 . T G . . AS_SB_TABLE=2,7|1,2;DP=12;ECNT=5;MBQ=37,37;MFRL=345,246;MMQ=27,27;MPOS=39;POPAF=0.215;TLOD=7.08 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1:7,0:0.111:7:5,0:2,0:7,0:2,5,0,0 0/1:2,3:0.571:5:0,2:2,1:2,3:0,2,1,2 chr1 15274 15274 A G ncRNA_intronic WASH7P . . . . 0.535714 VQSRTrancheSNP99.00to99.90 FDP . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs2758118 . . . . . . . . . 0.38 0.23 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.3711 0.5226 0.3736 0.3680 0.3890 0.3818 . 0.3195 0.5226 0.3543 0.3520 0.2831 0.3578 0.5215 0.5226 . 0.5196 . . . 0.0977025 2543 26028 . . . . . . . . . . . . . . . . . . . . . . . . . -0.6522 0.48 0.35 0.32 0.28 0.48 0.29 0.35 . . . . . . . . . . . . . . . . . . 0.5 . 1 chr1 15274 . A G,T . . AS_SB_TABLE=0,0|0,0|0,0;DP=3;ECNT=5;MBQ=0,37,37;MFRL=0,381,327;MMQ=60,24,41;MPOS=33,68;POPAF=0.430,0.213;TLOD=4.57,3.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,2,0:0.615,0.192:2:0,1,0:0,1,0:0,2,0:0,0,1,1 0/1/2:0,0,1:0.250,0.500:1:0,0,0:0,0,1:0,0,1:0,0,1,0 chr1 15274 15274 A T ncRNA_intronic WASH7P . . . . 0.916667 VQSRTrancheSNP99.00to99.90 FDP . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . rs2758118 . . . . . . . . . 0.38 0.23 182 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0.6129 0.6805 0.6107 0.6158 0.5990 0.5681 . 0.6805 0.4774 0.6454 0.6480 0.7169 0.6365 0.6837 0.6553 . 0.6581 . . . 0.248847 6477 26028 . . . . . . . . . . . . . . . . . . . . . . . . . -0.6522 0.72 0.64 0.64 0.72 0.52 0.71 0.65 . . . . . . . . . . . . . . . . . . 0.5 . 1 chr1 15274 . A G,T . . AS_SB_TABLE=0,0|0,0|0,0;DP=3;ECNT=5;MBQ=0,37,37;MFRL=0,381,327;MMQ=60,24,41;MPOS=33,68;POPAF=0.430,0.213;TLOD=4.57,3.20 GT:AD:AF:DP:F1R2:F2R1:FAD:SB 0/1/2:0,2,0:0.615,0.192:2:0,1,0:0,1,0:0,2,0:0,0,1,1 0/1/2:0,0,1:0.250,0.500:1:0,0,0:0,0,1:0,0,1:0,0,1,0