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 ABCB11 0 genome.wustl.edu 37 2 169869945 169869945 + Nonsense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 2 169869945 169869945 G A SNP ABCB11 ENST00000263817 human ensembl 69_37n -1 known nonsense c.226 p.Q76* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 650 0 0.00 329 201 37.92 - - - ABCB11 0 genome.wustl.edu 37 2 169869945 169869945 + Nonsense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 2 169869945 169869945 G A SNP ABCB11 ENST00000263817 human ensembl 69_37n -1 known nonsense c.226 p.Q76* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ENSG00000073734 459 0 0.00 329 201 37.92 - - - ABCC5 0 genome.wustl.edu 37 3 183665211 183665211 + Missense_Mutation SNP G G C TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 3 183665211 183665211 G C SNP ABCC5 ENST00000334444 human ensembl 69_37n -1 known missense c.3315 p.I1105M 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 34 0 0.00 21 6 18.75 - - - ABCC5 0 genome.wustl.edu 37 3 183665211 183665211 + Missense_Mutation SNP G G C TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 3 183665211 183665211 G C SNP ABCC5 ENST00000334444 human ensembl 69_37n -1 known missense c.3315 p.I1105M 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 30 0 0.00 21 6 18.75 - - - ADCYAP1R1 0 genome.wustl.edu 37 7 31104525 31104525 + Silent SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 7 31104525 31104525 C T SNP ADCYAP1R1 ENST00000304166 human ensembl 69_37n +1 known silent c.130 p.L44 0.843 pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 25 0 0.00 11 11 50.00 - - - ADCYAP1R1 0 genome.wustl.edu 37 7 31104525 31104525 + Silent SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 7 31104525 31104525 C T SNP ADCYAP1R1 ENST00000304166 human ensembl 69_37n +1 known silent c.130 p.L44 0.843 pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 21 0 0.00 11 11 50.00 - - - ARL10 0 genome.wustl.edu 37 5 175798850 175798850 + Silent SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 5 175798850 175798850 G A SNP ARL10 ENST00000310389 human ensembl 69_37n +1 known silent c.687 p.E229 0.001 smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR - no_errors ARL10 HGNC ENSG00000175414 32 0 0.00 15 7 31.82 - - - ARL10 0 genome.wustl.edu 37 5 175798850 175798850 + Silent SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 5 175798850 175798850 G A SNP ARL10 ENST00000310389 human ensembl 69_37n +1 known silent c.687 p.E229 0.001 smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR - no_errors ARL10 HGNC ENSG00000175414 24 0 0.00 15 7 31.82 - - - ARRDC4 0 genome.wustl.edu 37 15 98512383 98512383 + Frame_Shift_Del DEL A A - TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 15 98512383 98512383 A - DEL ARRDC4 ENST00000268042 human ensembl 69_37n +1 known frame_shift_del c.656 p.N220fs 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC4 HGNC ENSG00000140450 123 0 0.00 55 28 33.33 - - - ARRDC4 0 genome.wustl.edu 37 15 98512383 98512383 + Frame_Shift_Del DEL A A - TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 15 98512383 98512383 A - DEL ARRDC4 ENST00000268042 human ensembl 69_37n +1 known frame_shift_del c.656 p.N220fs 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC4 HGNC ENSG00000140450 101 0 0.00 55 28 33.33 - - - CALM1 0 genome.wustl.edu 37 14 90870228 90870228 + Silent SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 14 90870228 90870228 C T SNP CALM1 ENST00000356978 human ensembl 69_37n +1 known silent c.201 p.P67 0.184 pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2 pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2 - no_errors CALM1 HGNC ENSG00000198668 135 0 0.00 52 27 34.18 - - - CALM1 0 genome.wustl.edu 37 14 90870228 90870228 + Silent SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 14 90870228 90870228 C T SNP CALM1 ENST00000356978 human ensembl 69_37n +1 known silent c.201 p.P67 0.184 pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2 pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2 - no_errors CALM1 HGNC ENSG00000198668 117 1 0.85 52 27 34.18 - - - CD300A 0 genome.wustl.edu 37 17 72469816 72469816 + Missense_Mutation SNP T T C TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 17 72469816 72469816 T C SNP CD300A ENST00000360141 human ensembl 69_37n +1 known missense c.182 p.I61T 0.018 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300A HGNC ENSG00000167851 165 0 0.00 103 58 36.02 - - - CD300A 0 genome.wustl.edu 37 17 72469816 72469816 + Missense_Mutation SNP T T C TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 17 72469816 72469816 T C SNP CD300A ENST00000360141 human ensembl 69_37n +1 known missense c.182 p.I61T 0.018 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300A HGNC ENSG00000167851 151 0 0.00 103 58 36.02 - - - COX10 0 genome.wustl.edu 37 17 14110164 14110165 + Frame_Shift_Ins INS - - T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 17 14110164 14110165 - T INS COX10 ENST00000261643 human ensembl 69_37n +1 known frame_shift_ins c.966_967 p.P323fs 1.000:1.000 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 158 0 0.00 81 19 19.00 - - - COX10 0 genome.wustl.edu 37 17 14110164 14110165 + Frame_Shift_Ins INS - - T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 17 14110164 14110165 - T INS COX10 ENST00000261643 human ensembl 69_37n +1 known frame_shift_ins c.966_967 p.P323fs 1.000:1.000 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 146 0 0.00 81 19 19.00 - - - CSMD1 0 genome.wustl.edu 37 8 2975975 2975975 + Missense_Mutation SNP T T C TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 8 2975975 2975975 T C SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.6379 p.T2127A 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 122 0 0.00 35 31 46.97 - - - CSMD1 0 genome.wustl.edu 37 8 2975975 2975975 + Missense_Mutation SNP T T C TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 8 2975975 2975975 T C SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.6379 p.T2127A 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 88 0 0.00 35 31 46.97 - - - EFCAB13 0 genome.wustl.edu 37 17 45405748 45405748 + Missense_Mutation SNP A A T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 17 45405748 45405748 A T SNP EFCAB13 ENST00000331493 human ensembl 69_37n +1 known missense c.29 p.Q10L 0.963 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 304 0 0.00 142 88 38.10 - - - EFCAB13 0 genome.wustl.edu 37 17 45405748 45405748 + Missense_Mutation SNP A A T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 17 45405748 45405748 A T SNP EFCAB13 ENST00000331493 human ensembl 69_37n +1 known missense c.29 p.Q10L 0.963 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 381 0 0.00 142 88 38.10 - - - FOLH1 0 genome.wustl.edu 37 11 49175784 49175784 + Silent SNP T T C TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 11 49175784 49175784 T C SNP FOLH1 ENST00000256999 human ensembl 69_37n -1 known silent c.1884 p.S628 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 258 0 0.00 72 105 59.32 - - - FOLH1 0 genome.wustl.edu 37 11 49175784 49175784 + Silent SNP T T C TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 11 49175784 49175784 T C SNP FOLH1 ENST00000256999 human ensembl 69_37n -1 known silent c.1884 p.S628 1.000 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 225 0 0.00 72 105 59.32 - - - FRMD4A 0 genome.wustl.edu 37 10 13696451 13696452 + Frame_Shift_Ins INS - - G TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 10 13696451 13696452 - G INS FRMD4A ENST00000357447 human ensembl 69_37n -1 known frame_shift_ins c.3015_3014 p.S1006fs 0.992:1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 52 0 0.00 23 3 11.54 - - - GSK3A 0 genome.wustl.edu 37 19 42738787 42738787 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 19 42738787 42738787 G A SNP GSK3A ENST00000222330 human ensembl 69_37n -1 known missense c.710 p.S237F 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors GSK3A HGNC ENSG00000105723 48 0 0.00 26 19 42.22 - - - GSK3A 0 genome.wustl.edu 37 19 42738787 42738787 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 19 42738787 42738787 G A SNP GSK3A ENST00000222330 human ensembl 69_37n -1 known missense c.710 p.S237F 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors GSK3A HGNC ENSG00000105723 44 0 0.00 26 19 42.22 - - - HEPH 0 genome.wustl.edu 37 X 65418840 65418840 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c X 65418840 65418840 G A SNP HEPH ENST00000519389 human ensembl 69_37n +1 known missense c.1996 p.E666K 0.070 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 314 0 0.00 240 38 13.67 - - - HEPH 0 genome.wustl.edu 37 X 65418840 65418840 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 X 65418840 65418840 G A SNP HEPH ENST00000519389 human ensembl 69_37n +1 known missense c.1996 p.E666K 0.070 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 243 0 0.00 240 38 13.67 - - - HIST1H2BC 0 genome.wustl.edu 37 6 26123793 26123793 + Missense_Mutation SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 6 26123793 26123793 C T SNP HIST1H2BC ENST00000314332 human ensembl 69_37n -1 known missense c.340 p.E114K 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 265 0 0.00 139 26 15.76 - - - HIST1H2BC 0 genome.wustl.edu 37 6 26123793 26123793 + Missense_Mutation SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 6 26123793 26123793 C T SNP HIST1H2BC ENST00000314332 human ensembl 69_37n -1 known missense c.340 p.E114K 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 204 0 0.00 139 26 15.76 - - - IGDCC4 0 genome.wustl.edu 37 15 65681239 65681240 + Frame_Shift_Ins INS - - G TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 15 65681239 65681240 - G INS IGDCC4 ENST00000352385 human ensembl 69_37n -1 novel frame_shift_ins c.2614_2613 p.T871fs 0.007:0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC4 HGNC ENSG00000103742 25 0 0.00 16 2 11.11 - - - INTS7 0 genome.wustl.edu 37 1 212148582 212148582 + Missense_Mutation SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 1 212148582 212148582 C T SNP INTS7 ENST00000366994 human ensembl 69_37n -1 known missense c.1741 p.E581K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 173 0 0.00 223 61 21.40 - - - KIAA1211 0 genome.wustl.edu 37 4 57180592 57180592 + Frame_Shift_Del DEL T T - TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 4 57180592 57180592 T - DEL KIAA1211 ENST00000504228 human ensembl 69_37n +1 known frame_shift_del c.924 p.E309fs 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 11 0 0.00 4 3 42.86 - - - NKIRAS1 0 genome.wustl.edu 37 3 23934723 23934723 + Missense_Mutation SNP C C G TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 3 23934723 23934723 C G SNP NKIRAS1 ENST00000388759 human ensembl 69_37n -1 known missense c.442 p.E148Q 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS1 HGNC ENSG00000197885 421 0 0.00 249 124 33.24 - - - NKIRAS1 0 genome.wustl.edu 37 3 23934723 23934723 + Missense_Mutation SNP C C G TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 3 23934723 23934723 C G SNP NKIRAS1 ENST00000388759 human ensembl 69_37n -1 known missense c.442 p.E148Q 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS1 HGNC ENSG00000197885 280 0 0.00 249 124 33.24 - - - NLRP1 0 genome.wustl.edu 37 17 5462379 5462379 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 17 5462379 5462379 G A SNP NLRP1 ENST00000572272 human ensembl 69_37n -1 known missense c.1637 p.T546I 0.814 pfscan_NACHT_NTPase pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 188 0 0.00 124 54 30.34 - - - NLRP1 0 genome.wustl.edu 37 17 5462379 5462379 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 17 5462379 5462379 G A SNP NLRP1 ENST00000572272 human ensembl 69_37n -1 known missense c.1637 p.T546I 0.814 pfscan_NACHT_NTPase pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 143 0 0.00 124 54 30.34 - - - OR4M1 0 genome.wustl.edu 37 14 20248544 20248544 + Silent SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 14 20248544 20248544 G A SNP OR4M1 ENST00000315957 human ensembl 69_37n +1 known silent c.63 p.R21 0.575 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4M1 HGNC ENSG00000176299 705 0 0.00 740 165 18.23 - - - OR4M1 0 genome.wustl.edu 37 14 20248544 20248544 + Silent SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 14 20248544 20248544 G A SNP OR4M1 ENST00000315957 human ensembl 69_37n +1 known silent c.63 p.R21 0.575 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4M1 HGNC ENSG00000176299 667 0 0.00 740 165 18.23 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 101 0 0.00 62 41 39.81 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 104 0 0.00 62 41 39.81 - - - PORCN 0 genome.wustl.edu 37 X 48370989 48370990 + Frame_Shift_Ins INS - - T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c X 48370989 48370990 - T INS PORCN ENST00000326194 human ensembl 69_37n +1 known frame_shift_ins c.568_569 p.Q191fs 1.000:1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 13 0 0.00 5 5 50.00 - - - PORCN 0 genome.wustl.edu 37 X 48370989 48370990 + Frame_Shift_Ins INS - - T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 X 48370989 48370990 - T INS PORCN ENST00000326194 human ensembl 69_37n +1 known frame_shift_ins c.568_569 p.Q191fs 1.000:1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 16 0 0.00 5 5 50.00 - - - PPHLN1 0 genome.wustl.edu 37 12 42835228 42835228 + Missense_Mutation SNP A A C TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 12 42835228 42835228 A C SNP PPHLN1 ENST00000395568 human ensembl 69_37n +1 known missense c.1021 p.I341L 1.000 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 141 0 0.00 115 57 32.95 - - - PPHLN1 0 genome.wustl.edu 37 12 42835228 42835228 + Missense_Mutation SNP A A C TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 12 42835228 42835228 A C SNP PPHLN1 ENST00000395568 human ensembl 69_37n +1 known missense c.1021 p.I341L 1.000 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 160 0 0.00 115 57 32.95 - - - PSMD13 0 genome.wustl.edu 37 11 244466 244466 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 11 244466 244466 G A SNP PSMD13 ENST00000526783 human ensembl 69_37n +1 novel missense c.38 p.R13K 0.998 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PSMD13 HGNC ENSG00000185627 162 0 0.00 83 16 16.16 - - - PSMD13 0 genome.wustl.edu 37 11 244466 244466 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 11 244466 244466 G A SNP PSMD13 ENST00000526783 human ensembl 69_37n +1 novel missense c.38 p.R13K 0.998 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PSMD13 HGNC ENSG00000185627 62 0 0.00 83 16 16.16 - - - RP1L1 0 genome.wustl.edu 37 8 10465798 10465798 + Missense_Mutation SNP C C A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 8 10465798 10465798 C A SNP RP1L1 ENST00000382483 human ensembl 69_37n -1 known missense c.5810 p.G1937V 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 312 1 0.32 156 162 50.47 - - - RP1L1 0 genome.wustl.edu 37 8 10465798 10465798 + Missense_Mutation SNP C C A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 8 10465798 10465798 C A SNP RP1L1 ENST00000382483 human ensembl 69_37n -1 known missense c.5810 p.G1937V 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 634 0 0.00 156 162 50.47 - - - SEC13 0 genome.wustl.edu 37 3 10354287 10354287 + Missense_Mutation SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 3 10354287 10354287 C T SNP SEC13 ENST00000350697 human ensembl 69_37n -1 known missense c.292 p.E98K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC13 HGNC ENSG00000157020 85 0 0.00 40 20 33.33 - - - SEC13 0 genome.wustl.edu 37 3 10354287 10354287 + Missense_Mutation SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 3 10354287 10354287 C T SNP SEC13 ENST00000350697 human ensembl 69_37n -1 known missense c.292 p.E98K 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC13 HGNC ENSG00000157020 47 0 0.00 40 20 33.33 - - - SH2D4B 0 genome.wustl.edu 37 10 82369254 82369254 + Missense_Mutation SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 10 82369254 82369254 C T SNP SH2D4B ENST00000470604 human ensembl 69_37n +1 known missense c.929 p.P310L 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D4B HGNC ENSG00000178217 176 0 0.00 66 38 36.54 - - - SH2D4B 0 genome.wustl.edu 37 10 82369254 82369254 + Missense_Mutation SNP C C T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 10 82369254 82369254 C T SNP SH2D4B ENST00000470604 human ensembl 69_37n +1 known missense c.929 p.P310L 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D4B HGNC ENSG00000178217 165 0 0.00 66 38 36.54 - - - SNX25 0 genome.wustl.edu 37 4 186188284 186188284 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 4 186188284 186188284 G A SNP SNX25 ENST00000264694 human ensembl 69_37n +1 known missense c.574 p.D192N 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX25 HGNC ENSG00000109762 264 0 0.00 126 32 20.25 - - - SNX25 0 genome.wustl.edu 37 4 186188284 186188284 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 4 186188284 186188284 G A SNP SNX25 ENST00000264694 human ensembl 69_37n +1 known missense c.574 p.D192N 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX25 HGNC ENSG00000109762 214 0 0.00 126 32 20.25 - - - SSPO 0 genome.wustl.edu 37 7 149481940 149481940 + RNA SNP G G T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 7 149481940 149481940 G T SNP SSPO ENST00000262089 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 32 0 0.00 11 4 26.67 - - - SSPO 0 genome.wustl.edu 37 7 149481940 149481940 + RNA SNP G G T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 7 149481940 149481940 G T SNP SSPO ENST00000262089 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 44 0 0.00 11 4 26.67 - - - THEMIS2 0 genome.wustl.edu 37 1 28211957 28211957 + Missense_Mutation SNP A A T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 1 28211957 28211957 A T SNP THEMIS2 ENST00000373921 human ensembl 69_37n +1 known missense c.1871 p.D624V 0.000 NULL NULL - no_errors THEMIS2 HGNC ENSG00000130775 35 0 0.00 22 9 29.03 - - - THEMIS2 0 genome.wustl.edu 37 1 28211957 28211957 + Missense_Mutation SNP A A T TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 1 28211957 28211957 A T SNP THEMIS2 ENST00000373921 human ensembl 69_37n +1 known missense c.1871 p.D624V 0.000 NULL NULL - no_errors THEMIS2 HGNC ENSG00000130775 52 0 0.00 22 9 29.03 - - - TMEM132D 0 genome.wustl.edu 37 12 130184704 130184705 + Frame_Shift_Ins INS - - G TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 12 130184704 130184705 - G INS TMEM132D ENST00000422113 human ensembl 69_37n -1 known frame_shift_ins c.619_618 p.T206fs 0.073:0.027 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 22 0 0.00 15 4 21.05 - - - UBL3 0 genome.wustl.edu 37 13 30351391 30351391 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 13 30351391 30351391 G A SNP UBL3 ENST00000380680 human ensembl 69_37n -1 known missense c.37 p.R13C 1.000 pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup - no_errors UBL3 HGNC ENSG00000122042 119 0 0.00 39 15 27.78 - - - UBL3 0 genome.wustl.edu 37 13 30351391 30351391 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 13 30351391 30351391 G A SNP UBL3 ENST00000380680 human ensembl 69_37n -1 known missense c.37 p.R13C 1.000 pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup pirsf_M-anchored_Ub-fold_HCG-1,pfscan_Ubiquitin_supergroup - no_errors UBL3 HGNC ENSG00000122042 93 0 0.00 39 15 27.78 - - - USP36 0 genome.wustl.edu 37 17 76799860 76799861 + Frame_Shift_Ins INS - - G TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 17 76799860 76799861 - G INS USP36 ENST00000312010 human ensembl 69_37n -1 known frame_shift_ins c.2417_2416 p.Q806fs 0.000:0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC ENSG00000055483 30 0 0.00 5 2 28.57 - - - ZFHX4 0 genome.wustl.edu 37 8 77766283 77766283 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 b843963e-eb76-4c5b-9b0d-e9c85ce8da9c 8 77766283 77766283 G A SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.7126 p.A2376T 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 390 0 0.00 204 98 32.45 - - - ZFHX4 0 genome.wustl.edu 37 8 77766283 77766283 + Missense_Mutation SNP G G A TCGA-BH-A0BV-01A-11W-A019-09 TCGA-BH-A0BV-11A-31W-A100-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7ac613ae-249a-4f24-9ecd-8a9b583b2966 0af2a93f-7254-4396-af65-c45fcbdc9f49 8 77766283 77766283 G A SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.7126 p.A2376T 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 288 0 0.00 204 98 32.45 - - -