Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABHD4 0 genome.wustl.edu 37 14 23078768 23078768 + Silent SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 14 23078768 23078768 G A SNP ABHD4 ENST00000428304 human ensembl 69_37n +1 known silent c.891 p.T297 0.047 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors ABHD4 HGNC ENSG00000100439 132 0 0.00 126 57 30.98 - - - ACVR2A 0 genome.wustl.edu 37 2 148657066 148657066 + Frame_Shift_Del DEL T T - TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 148657066 148657066 T - DEL ACVR2A ENST00000241416 human ensembl 69_37n +1 known frame_shift_del c.303 p.C103fs 1.000 pfam_Activin_rcpt,prints_Activin_II/TGFBeta-II_recpt pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 136 0 0.00 182 120 39.47 - - - ADAD1 0 genome.wustl.edu 37 4 123304955 123304955 + Silent SNP T T G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 4 123304955 123304955 T G SNP ADAD1 ENST00000296513 human ensembl 69_37n +1 known silent c.363 p.G121 0.989 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 226 0 0.00 258 156 37.68 - - - AKAP4 0 genome.wustl.edu 37 X 49957298 49957298 + Missense_Mutation SNP A A T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb X 49957298 49957298 A T SNP AKAP4 ENST00000358526 human ensembl 69_37n -1 known missense c.2066 p.M689K 0.997 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 164 0 0.00 205 47 18.65 - - - AKAP9 0 genome.wustl.edu 37 7 91690649 91690649 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 7 91690649 91690649 C G SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known missense c.5713 p.L1905V 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 66 0 0.00 120 24 16.55 - - - ANKRD20A4 0 genome.wustl.edu 37 9 69423558 69423558 + Silent SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 9 69423558 69423558 C T SNP ANKRD20A4 ENST00000357336 human ensembl 69_37n +1 known silent c.1854 p.S618 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 34 0 0.00 80 12 13.04 - - - ASB9 0 genome.wustl.edu 37 X 15267033 15267033 + Missense_Mutation SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb X 15267033 15267033 C T SNP ASB9 ENST00000380488 human ensembl 69_37n -1 known missense c.593 p.G198D 0.023 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB9 HGNC ENSG00000102048 68 0 0.00 74 11 12.79 - - - ATF4 0 genome.wustl.edu 37 22 39917510 39917510 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 22 39917510 39917510 C G SNP ATF4 ENST00000337304 human ensembl 69_37n +1 known missense c.60 p.F20L 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 42 0 0.00 71 10 12.35 - - - BIN2 0 genome.wustl.edu 37 12 51696916 51696916 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 12 51696916 51696916 G A SNP BIN2 ENST00000267012 human ensembl 69_37n -1 known missense c.172 p.H58Y 0.991 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 117 0 0.00 127 19 13.01 - - - BVES 0 genome.wustl.edu 37 6 105573408 105573408 + Missense_Mutation SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 6 105573408 105573408 C T SNP BVES ENST00000314641 human ensembl 69_37n -1 known missense c.397 p.E133K 1.000 pfam_Popeye_prot pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors BVES HGNC ENSG00000112276 79 0 0.00 164 35 17.59 - - - C10orf71 0 genome.wustl.edu 37 10 50532310 50532310 + Missense_Mutation SNP A A G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 10 50532310 50532310 A G SNP C10orf71 ENST00000374144 human ensembl 69_37n +1 known missense c.1720 p.K574E 0.251 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 129 0 0.00 44 9 16.98 - - - C20orf132 0 genome.wustl.edu 37 20 35737007 35737007 + Missense_Mutation SNP T T C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 20 35737007 35737007 T C SNP C20orf132 ENST00000400441 human ensembl 69_37n -1 known missense c.2975 p.E992G 0.988 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC ENSG00000101353 75 0 0.00 38 75 66.37 - - - C2orf18 0 genome.wustl.edu 37 2 26998354 26998354 + Silent SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 26998354 26998354 C T SNP C2orf18 ENST00000344420 human ensembl 69_37n +1 known silent c.345 p.S115 1.000 pfam_DUF914_euk,pfam_Nuc_sug_transpt,pfam_DMT,pfam_UAA,pirsf_UCP036436 pfam_DUF914_euk,pfam_Nuc_sug_transpt,pfam_DMT,pfam_DUF250,pfam_UAA,pirsf_UCP036436 - no_errors C2orf18 HGNC ENSG00000213699 75 0 0.00 166 102 38.06 - - - CCRL1 0 genome.wustl.edu 37 3 132320043 132320043 + Missense_Mutation SNP A A G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 3 132320043 132320043 A G SNP CCRL1 ENST00000249887 human ensembl 69_37n +1 known missense c.802 p.I268V 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR11,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CCRL1 HGNC ENSG00000129048 288 0 0.00 156 60 27.78 - - - CEP95 0 genome.wustl.edu 37 17 62506293 62506293 + Missense_Mutation SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 17 62506293 62506293 C A SNP CEP95 ENST00000556440 human ensembl 69_37n +1 known missense c.151 p.L51I 1.000 superfamily_CH-domain superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 70 0 0.00 342 171 33.33 - - - CNGB3 0 genome.wustl.edu 37 8 87751884 87751884 + Missense_Mutation SNP T T A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 8 87751884 87751884 T A SNP CNGB3 ENST00000320005 human ensembl 69_37n -1 known missense c.210 p.Q70H 0.997 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 262 0 0.00 205 182 46.79 - - - CXADR 0 genome.wustl.edu 37 21 18933138 18933138 + Silent SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 21 18933138 18933138 C G SNP CXADR ENST00000284878 human ensembl 69_37n +1 known silent c.690 p.V230 0.989 smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CXADR HGNC ENSG00000154639 418 0 0.00 776 457 37.03 - - - CYB5R1 0 genome.wustl.edu 37 1 202935062 202935062 + Missense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 202935062 202935062 G C SNP CYB5R1 ENST00000367249 human ensembl 69_37n -1 known missense c.298 p.P100A 1.000 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase - no_errors CYB5R1 HGNC ENSG00000159348 185 0 0.00 199 108 35.06 - - - DHX58 0 genome.wustl.edu 37 17 40259747 40259747 + Missense_Mutation SNP A A T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 17 40259747 40259747 A T SNP DHX58 ENST00000251642 human ensembl 69_37n -1 known missense c.872 p.L291Q 1.000 NULL pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 19 0 0.00 22 17 42.50 - - - DNAH6 0 genome.wustl.edu 37 2 84881840 84881840 + Silent SNP T T C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 84881840 84881840 T C SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known silent c.5691 p.F1897 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 472 0 0.00 437 98 18.28 - - - DPP8 0 genome.wustl.edu 37 15 65799695 65799695 + Splice_Site SNP T T A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 15 65799695 65799695 T A SNP DPP8 ENST00000341861 human ensembl 69_37n -1 known splice_site c.308-2 e3-2 0.996 - - - no_errors DPP8 HGNC ENSG00000074603 117 0 0.00 61 85 58.22 - - - DYNC2H1 0 genome.wustl.edu 37 11 103059309 103059309 + Silent SNP T T C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 11 103059309 103059309 T C SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known silent c.7224 p.A2408 1.000 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 123 0 0.00 87 105 54.69 - - - DYNC2H1 0 genome.wustl.edu 37 11 103059310 103059310 + Missense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 11 103059310 103059310 G C SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known missense c.7225 p.G2409R 1.000 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 127 0 0.00 87 109 55.61 - - - EIF2C4 0 genome.wustl.edu 37 1 36298080 36298080 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 36298080 36298080 C G SNP EIF2C4 ENST00000373210 human ensembl 69_37n +1 known missense c.1288 p.R430G 1.000 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC ENSG00000134698 249 0 0.00 244 94 27.81 - - - EMILIN2 0 genome.wustl.edu 37 18 2890828 2890828 + Missense_Mutation SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 18 2890828 2890828 C A SNP EMILIN2 ENST00000254528 human ensembl 69_37n +1 known missense c.703 p.P235T 0.999 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 40 0 0.00 16 49 75.38 - - - ERCC6 0 genome.wustl.edu 37 10 50690883 50690883 + Silent SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 10 50690883 50690883 C A SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known silent c.2019 p.L673 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 121 0 0.00 63 28 30.77 - - - ERVFRD-1 0 genome.wustl.edu 37 6 11104836 11104836 + Silent SNP A A G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 6 11104836 11104836 A G SNP ERVFRD-1 ENST00000472091 human ensembl 69_37n -1 known silent c.708 p.S236 0.935 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVFRD-1 HGNC ENSG00000244476 58 0 0.00 63 15 19.23 - - - FAM135B 0 genome.wustl.edu 37 8 139263115 139263115 + Missense_Mutation SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 8 139263115 139263115 C A SNP FAM135B ENST00000395297 human ensembl 69_37n -1 known missense c.511 p.A171S 0.993 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 106 0 0.00 104 15 12.61 - - - FAM5C 0 genome.wustl.edu 37 1 190250700 190250700 + Missense_Mutation SNP A A G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 190250700 190250700 A G SNP FAM5C ENST00000445957 human ensembl 69_37n -1 known missense c.266 p.L89P 0.965 NULL NULL - no_stop_codon FAM5C HGNC ENSG00000162670 51 0 0.00 117 16 12.03 - - - FARS2 0 genome.wustl.edu 37 6 5431360 5431360 + Missense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 6 5431360 5431360 G C SNP FARS2 ENST00000274680 human ensembl 69_37n +1 known missense c.859 p.E287Q 1.000 pfam_Phenylalanyl-tRNA_Synthase,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 304 0 0.00 496 72 12.68 - - - FASLG 0 genome.wustl.edu 37 1 172628648 172628648 + Missense_Mutation SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 172628648 172628648 C A SNP FASLG ENST00000367721 human ensembl 69_37n +1 known missense c.307 p.Q103K 1.000 prints_Fas_ligand pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,prints_Fas_ligand,prints_TNF_a/b/c,prints_TNF_C,pfscan_TNF - no_errors FASLG HGNC ENSG00000117560 288 0 0.00 165 47 22.17 - - - GJA4 0 genome.wustl.edu 37 1 35260061 35260061 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 35260061 35260061 C G SNP GJA4 ENST00000342280 human ensembl 69_37n +1 known missense c.247 p.L83V 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 97 0 0.00 92 30 24.59 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685239 23685241 + In_Frame_Del DEL CTC CTC - TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 15 23685239 23685241 CTC - DEL GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative in_frame_del c.2383_2381 p.G794in_frame_del 0.003:0.002:0.002 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 23 0 0.00 19 16 45.71 - - - GRIN3B 0 genome.wustl.edu 37 19 1005266 1005266 + Missense_Mutation SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 19 1005266 1005266 C T SNP GRIN3B ENST00000234389 human ensembl 69_37n +1 known missense c.1766 p.A589V 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 13 0 0.00 7 12 63.16 - - - GRM3 0 genome.wustl.edu 37 7 86468742 86468742 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 7 86468742 86468742 C G SNP GRM3 ENST00000361669 human ensembl 69_37n +1 known missense c.1912 p.P638A 0.990 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C - no_errors GRM3 HGNC ENSG00000198822 147 0 0.00 172 36 17.31 - - - GSTP1 0 genome.wustl.edu 37 11 67353658 67353658 + Silent SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 11 67353658 67353658 C G SNP GSTP1 ENST00000398606 human ensembl 69_37n +1 known silent c.420 p.G140 0.901 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_pi - no_errors GSTP1 HGNC ENSG00000084207 60 0 0.00 67 22 24.72 - - - HEYL 0 genome.wustl.edu 37 1 40092514 40092514 + Nonsense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 40092514 40092514 G A SNP HEYL ENST00000372852 human ensembl 69_37n -1 known nonsense c.652 p.R218* 0.066 NULL pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors HEYL HGNC ENSG00000163909 190 0 0.00 106 12 10.17 - - - HGSNAT 0 genome.wustl.edu 37 8 43052147 43052147 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 8 43052147 43052147 C G SNP HGSNAT ENST00000458501 human ensembl 69_37n +1 known missense c.1605 p.F535L 0.030 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 466 0 0.00 225 30 11.76 - - - HIPK1 0 genome.wustl.edu 37 1 114510483 114510483 + Missense_Mutation SNP A A G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 114510483 114510483 A G SNP HIPK1 ENST00000369558 human ensembl 69_37n +1 known missense c.2477 p.N826S 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK1 HGNC ENSG00000163349 119 0 0.00 130 89 40.64 - - - HOOK3 0 genome.wustl.edu 37 8 42819469 42819469 + Missense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 8 42819469 42819469 G C SNP HOOK3 ENST00000307602 human ensembl 69_37n +1 known missense c.631 p.E211Q 1.000 pfam_HOOK pfam_HOOK,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 271 1 0.37 163 56 25.57 - - - HS1BP3 0 genome.wustl.edu 37 2 20823621 20823621 + Missense_Mutation SNP A A C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 20823621 20823621 A C SNP HS1BP3 ENST00000445102 human ensembl 69_37n -1 putative missense c.332 p.L111R 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HS1BP3 HGNC ENSG00000118960 31 0 0.00 57 12 17.39 - - - HTR1A 0 genome.wustl.edu 37 5 63257274 63257274 + Frame_Shift_Del DEL G G - TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 5 63257274 63257274 G - DEL HTR1A ENST00000323865 human ensembl 69_37n -1 known frame_shift_del c.273 p.M92fs 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT1A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 100 0 0.00 9 21 65.62 - - - IL10RB 0 genome.wustl.edu 37 21 34652083 34652083 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 21 34652083 34652083 G A SNP IL10RB ENST00000290200 human ensembl 69_37n +1 known missense c.358 p.V120I 0.127 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL10RB HGNC ENSG00000243646 181 0 0.00 191 61 24.21 - - - IL1RAPL1 0 genome.wustl.edu 37 X 29973934 29973934 + Missense_Mutation SNP G G T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb X 29973934 29973934 G T SNP IL1RAPL1 ENST00000302196 human ensembl 69_37n +1 known missense c.2088 p.W696C 1.000 NULL pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom,pfscan_Ig-like - no_errors IL1RAPL1 HGNC ENSG00000169306 49 0 0.00 26 24 48.00 - - - ILKAP 0 genome.wustl.edu 37 2 239079209 239079209 + Frame_Shift_Del DEL C C - TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 239079209 239079209 C - DEL ILKAP ENST00000254654 human ensembl 69_37n -1 known frame_shift_del c.1147 p.V383fs 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors ILKAP HGNC ENSG00000132323 23 0 0.00 8 17 65.38 - - - INTS1 0 genome.wustl.edu 37 7 1535175 1535175 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 7 1535175 1535175 G A SNP INTS1 ENST00000389470 human ensembl 69_37n -1 known missense c.2110 p.R704C 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 22 0 0.00 19 20 51.28 - - - IQCF1 0 genome.wustl.edu 37 3 51928941 51928941 + Missense_Mutation SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 3 51928941 51928941 C A SNP IQCF1 ENST00000310914 human ensembl 69_37n -1 known missense c.583 p.V195L 0.078 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF1 HGNC ENSG00000173389 107 0 0.00 15 27 64.29 - - - ITGA11 0 genome.wustl.edu 37 15 68599782 68599782 + Splice_Site SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 15 68599782 68599782 C A SNP ITGA11 ENST00000315757 human ensembl 69_37n -1 known splice_site c.3286-1 e28-1 1.000 - - - no_errors ITGA11 HGNC ENSG00000137809 88 0 0.00 63 16 20.25 - - - KCNAB1 0 genome.wustl.edu 37 3 155838561 155838561 + Missense_Mutation SNP A A T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 3 155838561 155838561 A T SNP KCNAB1 ENST00000490337 human ensembl 69_37n +1 known missense c.161 p.Q54L 0.997 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 93 0 0.00 58 15 20.55 - - - KCNJ4 0 genome.wustl.edu 37 22 38823629 38823629 + Missense_Mutation SNP G G T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 22 38823629 38823629 G T SNP KCNJ4 ENST00000303592 human ensembl 69_37n -1 known missense c.509 p.T170N 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 20 0 0.00 15 11 42.31 - - - KLHL32 0 genome.wustl.edu 37 6 97533213 97533213 + Missense_Mutation SNP G G T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 6 97533213 97533213 G T SNP KLHL32 ENST00000369261 human ensembl 69_37n +1 known missense c.623 p.W208L 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 170 0 0.00 50 15 23.08 - - - LIPE 0 genome.wustl.edu 37 19 42911525 42911525 + Silent SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 19 42911525 42911525 C G SNP LIPE ENST00000244289 human ensembl 69_37n -1 known silent c.1938 p.L646 0.574 pfam_Steryl_acetyl_hydrolase pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 71 0 0.00 23 30 56.60 - - - LOXHD1 0 genome.wustl.edu 37 18 44122705 44122705 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 18 44122705 44122705 C G SNP LOXHD1 ENST00000536736 human ensembl 69_37n -1 known missense c.3733 p.G1245R 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 - no_errors LOXHD1 HGNC ENSG00000167210 347 0 0.00 35 63 64.29 - - - LRRC37A4P 0 genome.wustl.edu 37 17 43585719 43585719 + RNA SNP A A C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 17 43585719 43585719 A C SNP LRRC37A4P ENST00000579913 human ensembl 69_37n -1 known rna NULL NULL 0.485 - - - no_errors LRRC37A4P HGNC ENSG00000214425 134 0 0.00 228 33 12.64 - - - MAB21L1 0 genome.wustl.edu 37 13 36050009 36050009 + Silent SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 13 36050009 36050009 C T SNP MAB21L1 ENST00000379919 human ensembl 69_37n -1 known silent c.267 p.V89 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 72 0 0.00 72 16 18.18 - - - MAGEA1 0 genome.wustl.edu 37 X 152482175 152482175 + Missense_Mutation SNP A A G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb X 152482175 152482175 A G SNP MAGEA1 ENST00000356661 human ensembl 69_37n -1 known missense c.836 p.V279A 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA1 HGNC ENSG00000198681 91 0 0.00 131 83 38.60 - - - MTHFD1 0 genome.wustl.edu 37 14 64906860 64906860 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 14 64906860 64906860 C G SNP MTHFD1 ENST00000216605 human ensembl 69_37n +1 known missense c.1859 p.S620C 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 104 0 0.00 40 79 66.39 - - - MUC12 0 genome.wustl.edu 37 7 100635585 100635585 + Missense_Mutation SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 7 100635585 100635585 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.2170 p.H724Y 0.001 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 608 0 0.00 682 204 22.97 - - - MYO18A 0 genome.wustl.edu 37 17 27448654 27448654 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 17 27448654 27448654 G A SNP MYO18A ENST00000354329 human ensembl 69_37n -1 known missense c.1282 p.R428C 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 25 0 0.00 9 11 55.00 - - - N4BP2L2 0 genome.wustl.edu 37 13 33018233 33018233 + Silent SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 13 33018233 33018233 C T SNP N4BP2L2 ENST00000399396 human ensembl 69_37n -1 known silent c.441 p.R147 0.000 NULL NULL - no_errors N4BP2L2 HGNC ENSG00000244754 40 0 0.00 37 29 43.94 - - - NOL9 0 genome.wustl.edu 37 1 6593398 6593398 + Silent SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 6593398 6593398 C G SNP NOL9 ENST00000377705 human ensembl 69_37n -1 known silent c.1179 p.V393 1.000 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1 - no_errors NOL9 HGNC ENSG00000162408 99 0 0.00 141 22 13.50 - - - NPHP4 0 genome.wustl.edu 37 1 5926438 5926438 + Silent SNP A A T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 5926438 5926438 A T SNP NPHP4 ENST00000378156 human ensembl 69_37n -1 known silent c.3639 p.I1213 0.453 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 71 0 0.00 73 39 34.21 - - - OGDH 0 genome.wustl.edu 37 7 44734067 44734067 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 7 44734067 44734067 G A SNP OGDH ENST00000222673 human ensembl 69_37n +1 known missense c.1560 p.M520I 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 76 0 0.00 95 41 30.15 - - - OR4L1 0 genome.wustl.edu 37 14 20529103 20529103 + Silent SNP A A G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 14 20529103 20529103 A G SNP OR4L1 ENST00000315683 human ensembl 69_37n +1 known silent c.900 p.K300 0.991 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4L1 HGNC ENSG00000176246 72 0 0.00 45 34 43.04 - - - OR9A2 0 genome.wustl.edu 37 7 142723943 142723943 + Missense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 7 142723943 142723943 G C SNP OR9A2 ENST00000350513 human ensembl 69_37n -1 known missense c.277 p.L93V 0.018 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR9A2 HGNC ENSG00000179468 191 0 0.00 121 92 42.99 - - - OTOGL 0 genome.wustl.edu 37 12 80712472 80712472 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 12 80712472 80712472 C G SNP OTOGL ENST00000458043 human ensembl 69_37n +1 known missense c.3754 p.L1252V 1.000 pfam_AbfB,superfamily_AbfB pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 85 0 0.00 61 36 37.11 - - - PACSIN2 0 genome.wustl.edu 37 22 43267475 43267475 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 22 43267475 43267475 C G SNP PACSIN2 ENST00000263246 human ensembl 69_37n -1 known missense c.1349 p.G450A 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 64 0 0.00 135 109 44.67 - - - PAK3 0 genome.wustl.edu 37 X 110459702 110459702 + Missense_Mutation SNP A A C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb X 110459702 110459702 A C SNP PAK3 ENST00000360648 human ensembl 69_37n +1 known missense c.1569 p.R523S 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK3 HGNC ENSG00000077264 304 0 0.00 191 43 18.38 - - - PCDHA13 0 genome.wustl.edu 37 5 140263402 140263402 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 5 140263402 140263402 G A SNP PCDHA13 ENST00000289272 human ensembl 69_37n +1 known missense c.1549 p.V517M 0.783 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 38 0 0.00 12 18 60.00 - - - PCDHGB4 0 genome.wustl.edu 37 5 140769441 140769441 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 5 140769441 140769441 G A SNP PCDHGB4 ENST00000519479 human ensembl 69_37n +1 known missense c.1990 p.D664N 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 54 0 0.00 43 98 68.53 - - - PDE1C 0 genome.wustl.edu 37 7 31887635 31887635 + Silent SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 7 31887635 31887635 C T SNP PDE1C ENST00000321453 human ensembl 69_37n -1 known silent c.927 p.L309 0.994 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 110 0 0.00 78 48 38.10 - - - PDLIM4 0 genome.wustl.edu 37 5 131607861 131607861 + Missense_Mutation SNP A A T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 5 131607861 131607861 A T SNP PDLIM4 ENST00000253754 human ensembl 69_37n +1 known missense c.932 p.K311M 1.000 pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 64 0 0.00 9 20 68.97 - - - PGLS 0 genome.wustl.edu 37 19 17628661 17628661 + Splice_Site SNP T T A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 19 17628661 17628661 T A SNP PGLS ENST00000252603 human ensembl 69_37n +1 known splice_site c.639+2 e4+2 1.000 - - - no_errors PGLS HGNC ENSG00000130313 23 0 0.00 108 55 32.74 - - - PHEX 0 genome.wustl.edu 37 X 22237179 22237179 + Missense_Mutation SNP T T C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb X 22237179 22237179 T C SNP PHEX ENST00000379374 human ensembl 69_37n +1 known missense c.1727 p.V576A 1.000 pfam_Peptidase_M13_C,prints_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 292 0 0.00 417 125 23.06 - - - PIK3CA 0 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 3 178916876 178916876 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.263 p.R88Q 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 89 0 0.00 60 3294 98.15 - - - PLEKHA8P1 0 genome.wustl.edu 37 12 45567946 45567946 + RNA SNP T T C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 12 45567946 45567946 T C SNP PLEKHA8P1 ENST00000256692 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 376 1 0.26 313 119 27.48 - - - PLEKHB2 0 genome.wustl.edu 37 2 131904268 131904268 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 131904268 131904268 C G SNP PLEKHB2 ENST00000403716 human ensembl 69_37n +1 known missense c.591 p.N197K 0.581 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC ENSG00000115762 121 0 0.00 88 32 26.67 - - - PPRC1 0 genome.wustl.edu 37 10 103907133 103907133 + Missense_Mutation SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 10 103907133 103907133 C T SNP PPRC1 ENST00000278070 human ensembl 69_37n +1 known missense c.4384 p.H1462Y 0.974 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 104 0 0.00 60 8 11.76 - - - PSMD1 0 genome.wustl.edu 37 2 231927249 231927249 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 231927249 231927249 G A SNP PSMD1 ENST00000308696 human ensembl 69_37n +1 known missense c.164 p.R55Q 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 115 0 0.00 70 181 72.11 - - - PTPRO 0 genome.wustl.edu 37 12 15637127 15637127 + Missense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 12 15637127 15637127 G C SNP PTPRO ENST00000281171 human ensembl 69_37n +1 known missense c.295 p.V99L 1.000 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 208 0 0.00 211 43 16.86 - - - PYROXD1 0 genome.wustl.edu 37 12 21621644 21621644 + Missense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 12 21621644 21621644 G C SNP PYROXD1 ENST00000240651 human ensembl 69_37n +1 known missense c.1459 p.D487H 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors PYROXD1 HGNC ENSG00000121350 107 0 0.00 114 22 16.18 - - - RBM19 0 genome.wustl.edu 37 12 114296661 114296661 + Missense_Mutation SNP T T C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 12 114296661 114296661 T C SNP RBM19 ENST00000261741 human ensembl 69_37n -1 known missense c.2599 p.M867V 0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 104 0 0.00 141 24 14.55 - - - RBM27 0 genome.wustl.edu 37 5 145610352 145610352 + Missense_Mutation SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 5 145610352 145610352 C A SNP RBM27 ENST00000265271 human ensembl 69_37n +1 known missense c.722 p.T241N 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 212 0 0.00 45 141 75.81 - - - RBM44 0 genome.wustl.edu 37 2 238726909 238726909 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 238726909 238726909 G A SNP RBM44 ENST00000316997 human ensembl 69_37n +1 known missense c.1350 p.M450I 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 53 0 0.00 40 88 68.75 - - - ROBO2 0 genome.wustl.edu 37 3 77651571 77651571 + Missense_Mutation SNP G G T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 3 77651571 77651571 G T SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known missense c.3065 p.S1022I 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ENSG00000185008 77 0 0.00 60 96 61.54 - - - RPP38 0 genome.wustl.edu 37 10 15145558 15145558 + Missense_Mutation SNP T T C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 10 15145558 15145558 T C SNP RPP38 ENST00000378197 human ensembl 69_37n +1 known missense c.245 p.I82T 0.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors RPP38 HGNC ENSG00000152464 93 0 0.00 82 50 37.59 - - - RPTOR 0 genome.wustl.edu 37 17 78867561 78867561 + Missense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 17 78867561 78867561 G C SNP RPTOR ENST00000306801 human ensembl 69_37n +1 known missense c.2297 p.S766T 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 134 0 0.00 68 41 37.61 - - - RYR2 0 genome.wustl.edu 37 1 237586392 237586392 + Silent SNP G G T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 237586392 237586392 G T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known silent c.843 p.A281 0.996 pfam_MIR,superfamily_MIR,prints_Ryan_recept pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 73 0 0.00 108 48 30.77 - - - SAAL1 0 genome.wustl.edu 37 11 18127464 18127464 + Missense_Mutation SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 11 18127464 18127464 C A SNP SAAL1 ENST00000524803 human ensembl 69_37n -1 known missense c.125 p.G42V 0.997 NULL superfamily_ARM-type_fold - no_errors SAAL1 HGNC ENSG00000166788 49 0 0.00 18 8 30.77 - - - SALL1 0 genome.wustl.edu 37 16 51173426 51173426 + Missense_Mutation SNP A A G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 16 51173426 51173426 A G SNP SALL1 ENST00000251020 human ensembl 69_37n -1 known missense c.2707 p.S903P 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 130 0 0.00 82 49 37.40 - - - SEMA4D 0 genome.wustl.edu 37 9 92017794 92017794 + Nonsense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 9 92017794 92017794 G A SNP SEMA4D ENST00000356444 human ensembl 69_37n -1 known nonsense c.244 p.Q82* 0.996 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4D HGNC ENSG00000187764 114 0 0.00 81 23 21.50 - - - SERPINA7 0 genome.wustl.edu 37 X 105278253 105278253 + Silent SNP T T G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb X 105278253 105278253 T G SNP SERPINA7 ENST00000327674 human ensembl 69_37n -1 known silent c.1017 p.T339 0.101 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC ENSG00000123561 146 0 0.00 96 83 46.37 - - - SETDB1 0 genome.wustl.edu 37 1 150933074 150933074 + Missense_Mutation SNP G G T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 150933074 150933074 G T SNP SETDB1 ENST00000271640 human ensembl 69_37n +1 known missense c.2536 p.G846C 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 184 1 0.54 80 14 14.89 - - - SHROOM4 0 genome.wustl.edu 37 X 50381257 50381257 + Silent SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb X 50381257 50381257 C A SNP SHROOM4 ENST00000289292 human ensembl 69_37n -1 known silent c.321 p.L107 1.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 93 0 0.00 85 14 14.14 - - - SLCO1C1 0 genome.wustl.edu 37 12 20890110 20890110 + Missense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 12 20890110 20890110 G C SNP SLCO1C1 ENST00000381552 human ensembl 69_37n +1 known missense c.1452 p.E484D 0.972 pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 197 0 0.00 291 122 29.54 - - - SOS1 0 genome.wustl.edu 37 2 39281774 39281774 + Nonsense_Mutation SNP G G C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 39281774 39281774 G C SNP SOS1 ENST00000402219 human ensembl 69_37n -1 known nonsense c.701 p.S234* 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 70 0 0.00 76 16 17.39 - - - SPTBN5 0 genome.wustl.edu 37 15 42185136 42185136 + Missense_Mutation SNP A A C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 15 42185136 42185136 A C SNP SPTBN5 ENST00000320955 human ensembl 69_37n -1 known missense c.340 p.F114V 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 12 0 0.00 3 5 62.50 - - - SRPK1 0 genome.wustl.edu 37 6 35810362 35810362 + Missense_Mutation SNP C C A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 6 35810362 35810362 C A SNP SRPK1 ENST00000373825 human ensembl 69_37n -1 known missense c.1640 p.G547V 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK1 HGNC ENSG00000096063 108 0 0.00 75 53 41.41 - - - TANC1 0 genome.wustl.edu 37 2 160035597 160035597 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 160035597 160035597 G A SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known missense c.2433 p.M811I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 42 0 0.00 42 10 19.23 - - - TAS2R31 0 genome.wustl.edu 37 12 11183563 11183563 + Missense_Mutation SNP T T G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 12 11183563 11183563 T G SNP TAS2R31 ENST00000390675 human ensembl 69_37n -1 known missense c.372 p.R124S 0.008 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R31 HGNC ENSG00000256436 159 0 0.00 85 139 61.78 - - - TDRD1 0 genome.wustl.edu 37 10 115964497 115964497 + Missense_Mutation SNP T T C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 10 115964497 115964497 T C SNP TDRD1 ENST00000251864 human ensembl 69_37n +1 known missense c.1142 p.V381A 0.868 pfam_Tudor pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 123 0 0.00 93 36 27.91 - - - TEX10 0 genome.wustl.edu 37 9 103065953 103065953 + Silent SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 9 103065953 103065953 G A SNP TEX10 ENST00000374902 human ensembl 69_37n -1 known silent c.2637 p.T879 0.999 NULL pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 84 0 0.00 20 25 55.56 - - - TEX15 0 genome.wustl.edu 37 8 30702239 30702239 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 8 30702239 30702239 C G SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.4295 p.S1432T 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 111 0 0.00 75 42 35.90 - - - TNRC6B 0 genome.wustl.edu 37 22 40711386 40711386 + Nonsense_Mutation SNP G G T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 22 40711386 40711386 G T SNP TNRC6B ENST00000446273 human ensembl 69_37n +1 putative nonsense c.3835 p.G1279* 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TNRC6B HGNC ENSG00000100354 101 0 0.00 152 102 40.16 - - - TP53 0 genome.wustl.edu 37 17 7579364 7579364 + Frame_Shift_Del DEL C C - TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 17 7579364 7579364 C - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.323 p.G108fs 0.910 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 169 0 0.00 19 24 55.81 - - - TTBK2 0 genome.wustl.edu 37 15 43045173 43045173 + Silent SNP T T C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 15 43045173 43045173 T C SNP TTBK2 ENST00000267890 human ensembl 69_37n -1 known silent c.2271 p.K757 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC ENSG00000128881 206 0 0.00 203 83 29.02 - - - UBE2J2 0 genome.wustl.edu 37 1 1190626 1190626 + Missense_Mutation SNP G G A TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 1 1190626 1190626 G A SNP UBE2J2 ENST00000400930 human ensembl 69_37n -1 known missense c.785 p.A262V 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC ENSG00000160087 22 0 0.00 35 20 36.36 - - - UFL1 0 genome.wustl.edu 37 6 96997376 96997376 + Missense_Mutation SNP A A G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 6 96997376 96997376 A G SNP UFL1 ENST00000369278 human ensembl 69_37n +1 known missense c.1609 p.I537V 1.000 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 190 0 0.00 77 76 49.67 - - - UNC5C 0 genome.wustl.edu 37 4 96166163 96166163 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 4 96166163 96166163 C G SNP UNC5C ENST00000453304 human ensembl 69_37n -1 known missense c.908 p.S303T 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Death,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5C HGNC ENSG00000182168 133 0 0.00 66 100 60.24 - - - USP37 0 genome.wustl.edu 37 2 219411017 219411017 + Missense_Mutation SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 2 219411017 219411017 C G SNP USP37 ENST00000258399 human ensembl 69_37n -1 known missense c.607 p.E203Q 1.000 NULL pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP37 HGNC ENSG00000135913 174 0 0.00 221 28 11.24 - - - VAC14 0 genome.wustl.edu 37 16 70796918 70796918 + Missense_Mutation SNP C C T TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 16 70796918 70796918 C T SNP VAC14 ENST00000261776 human ensembl 69_37n -1 known missense c.1171 p.A391T 0.853 superfamily_ARM-type_fold pfam_DUF3434,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 98 0 0.00 79 45 36.00 - - - WTAP 0 genome.wustl.edu 37 6 160164703 160164703 + Missense_Mutation SNP A A C TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 6 160164703 160164703 A C SNP WTAP ENST00000358372 human ensembl 69_37n +1 known missense c.152 p.D51A 1.000 NULL NULL - no_errors WTAP HGNC ENSG00000146457 78 0 0.00 135 32 19.16 - - - ZNF595 0 genome.wustl.edu 37 4 86522 86522 + RNA SNP C C G TCGA-A2-A04P-01A-31D-A128-09 TCGA-A2-A04P-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a85cf239-ff51-46e7-9b88-4c2cb49c66b9 aaef2ada-b81d-4e89-8add-a571603d67bb 4 86522 86522 C G SNP ZNF595 ENST00000339368 human ensembl 69_37n +1 known rna NULL NULL 0.886 - - - no_errors ZNF595 HGNC ENSG00000197701 102 0 0.00 98 32 24.62 - - -