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 ACVR1B 0 genome.wustl.edu 37 12 52387803 52387803 + Missense_Mutation SNP G G A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 12 52387803 52387803 G A SNP ACVR1B ENST00000257963 human ensembl 69_37n +1 known missense c.1427 p.C476Y 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ENSG00000135503 106 0 0.00 35 44 55.70 - - - AHNAK2 0 genome.wustl.edu 37 14 105420635 105420635 + Nonsense_Mutation SNP G G A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 14 105420635 105420635 G A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known nonsense c.1153 p.R385* 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 26 0 0.00 27 11 28.95 - - - ANK1 0 genome.wustl.edu 37 8 41552742 41552742 + Missense_Mutation SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 8 41552742 41552742 C T SNP ANK1 ENST00000396942 human ensembl 69_37n -1 known missense c.3068 p.R1023H 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 53 0 0.00 25 16 39.02 - - - ANKRD26 0 genome.wustl.edu 37 10 27326874 27326874 + Missense_Mutation SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 10 27326874 27326874 C T SNP ANKRD26 ENST00000436985 human ensembl 69_37n -1 known missense c.2533 p.V845M 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 133 0 0.00 103 34 24.82 - - - APOL1 0 genome.wustl.edu 37 22 36661744 36661744 + Nonsense_Mutation SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 22 36661744 36661744 C T SNP APOL1 ENST00000319136 human ensembl 69_37n +1 known nonsense c.910 p.R304* 0.000 pfam_ApoL pfam_ApoL - no_errors APOL1 HGNC ENSG00000100342 135 0 0.00 90 50 35.71 - - - BRWD3 0 genome.wustl.edu 37 X 79932420 79932420 + Missense_Mutation SNP T T A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 X 79932420 79932420 T A SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known missense c.5097 p.R1699S 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 297 0 0.00 389 113 22.38 - - - C11orf88 0 genome.wustl.edu 37 11 111385565 111385566 + Frame_Shift_Ins INS - - C TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 11 111385565 111385566 - C INS C11orf88 ENST00000529167 human ensembl 69_37n +1 known frame_shift_ins c.56_57 p.G23fs 0.000:0.000 NULL NULL - no_errors C11orf88 HGNC ENSG00000183644 38 0 0.00 12 3 20.00 - - - C3orf71 0 genome.wustl.edu 37 3 48956169 48956169 + Missense_Mutation SNP C C G TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 3 48956169 48956169 C G SNP C3orf71 ENST00000408959 human ensembl 69_37n -1 known missense c.414 p.L138F 0.000 NULL NULL - no_errors C3orf71 HGNC ENSG00000221883 21 0 0.00 7 6 46.15 - - - C9orf129 0 genome.wustl.edu 37 9 96097916 96097916 + Silent SNP G G A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 9 96097916 96097916 G A SNP C9orf129 ENST00000375419 human ensembl 69_37n -1 known silent c.105 p.G35 0.631 NULL NULL - no_errors C9orf129 HGNC ENSG00000204352 8 0 0.00 2 9 81.82 - - - CACNA1D 0 genome.wustl.edu 37 3 53842707 53842707 + Silent SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 3 53842707 53842707 C T SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known silent c.5841 p.C1947 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 24 0 0.00 22 14 38.89 - - - CBFB 0 genome.wustl.edu 37 16 67070595 67070595 + Nonsense_Mutation SNP G G A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 16 67070595 67070595 G A SNP CBFB ENST00000290858 human ensembl 69_37n +1 known nonsense c.219 p.W73* 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 119 0 0.00 27 44 61.97 - - - CBFB 0 genome.wustl.edu 37 16 67070596 67070596 + Missense_Mutation SNP C C A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 16 67070596 67070596 C A SNP CBFB ENST00000290858 human ensembl 69_37n +1 known missense c.220 p.Q74K 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 123 0 0.00 26 43 62.32 - - - CCDC85A 0 genome.wustl.edu 37 2 56419808 56419808 + Frame_Shift_Del DEL T T - TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 2 56419808 56419808 T - DEL CCDC85A ENST00000407595 human ensembl 69_37n +1 known frame_shift_del c.473 p.V158fs 1.000 pfam_DUF2216_coiled-coil pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 96 0 0.00 71 117 61.90 - - - CCDC85A 0 genome.wustl.edu 37 2 56419810 56419811 + Frame_Shift_Del DEL GT GT - TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 2 56419810 56419811 GT - DEL CCDC85A ENST00000407595 human ensembl 69_37n +1 known frame_shift_del c.475_476 p.V159fs 1.000:1.000 pfam_DUF2216_coiled-coil pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 95 0 0.00 84 117 58.21 - - - CHPF 0 genome.wustl.edu 37 2 220404537 220404537 + Silent SNP G G A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 2 220404537 220404537 G A SNP CHPF ENST00000243776 human ensembl 69_37n -1 known silent c.1896 p.A632 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 93 0 0.00 26 15 36.59 - - - CROCCP2 0 genome.wustl.edu 37 1 16946434 16946434 + RNA SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 1 16946434 16946434 C T SNP CROCCP2 ENST00000412962 human ensembl 69_37n -1 known rna NULL NULL 0.987 - - - no_errors CROCCP2 HGNC ENSG00000215908 8 0 0.00 3 5 62.50 - - - CTNND2 0 genome.wustl.edu 37 5 11346597 11346597 + Missense_Mutation SNP C C A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 5 11346597 11346597 C A SNP CTNND2 ENST00000304623 human ensembl 69_37n -1 known missense c.1515 p.Q505H 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 39 0 0.00 35 23 39.66 - - - DACH2 0 genome.wustl.edu 37 X 86071092 86071092 + Silent SNP T T C TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 X 86071092 86071092 T C SNP DACH2 ENST00000373125 human ensembl 69_37n +1 known silent c.1740 p.A580 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 76 0 0.00 74 33 30.84 - - - DNAJC4 0 genome.wustl.edu 37 11 64000185 64000186 + Frame_Shift_Ins INS - - C TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 11 64000185 64000186 - C INS DNAJC4 ENST00000321685 human ensembl 69_37n +1 known frame_shift_ins c.375_376 p.N127fs 0.001:0.002 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC4 HGNC ENSG00000110011 38 0 0.00 9 2 18.18 - - - G6PD 0 genome.wustl.edu 37 X 153761953 153761953 + Silent SNP A A T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 X 153761953 153761953 A T SNP G6PD ENST00000369620 human ensembl 69_37n -1 known silent c.840 p.G280 0.000 pirsf_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 14 0 0.00 5 8 61.54 - - - GPR137 0 genome.wustl.edu 37 11 64055630 64055631 + Frame_Shift_Ins INS - - C TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 11 64055630 64055631 - C INS GPR137 ENST00000313074 human ensembl 69_37n +1 known frame_shift_ins c.727_728 p.Q245fs 1.000:1.000 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 26 0 0.00 5 2 28.57 - - - HADHB 0 genome.wustl.edu 37 2 26505908 26505908 + Missense_Mutation SNP A A T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 2 26505908 26505908 A T SNP HADHB ENST00000317799 human ensembl 69_37n +1 known missense c.1050 p.Q350H 0.999 pfam_Thiolase_C,superfamily_Thiolase-like,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase - no_errors HADHB HGNC ENSG00000138029 196 0 0.00 153 59 27.83 - - - HAUS8 0 genome.wustl.edu 37 19 17169452 17169452 + Missense_Mutation SNP C C G TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 19 17169452 17169452 C G SNP HAUS8 ENST00000253669 human ensembl 69_37n -1 known missense c.552 p.E184D 0.056 NULL NULL - no_errors HAUS8 HGNC ENSG00000131351 139 0 0.00 105 32 23.36 - - - HDAC6 0 genome.wustl.edu 37 X 48672895 48672895 + Silent SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 X 48672895 48672895 C T SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known silent c.897 p.P299 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 146 0 0.00 83 39 31.97 - - - INSRR 0 genome.wustl.edu 37 1 156814052 156814053 + Frame_Shift_Ins INS - - C TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 1 156814052 156814053 - C INS INSRR ENST00000368195 human ensembl 69_37n -1 known frame_shift_ins c.2758_2757 p.L919fs 0.075:0.002 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ENSG00000027644 46 0 0.00 15 2 11.76 - - - JAK1 0 genome.wustl.edu 37 1 65301180 65301180 + Missense_Mutation SNP T T G TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 1 65301180 65301180 T G SNP JAK1 ENST00000342505 human ensembl 69_37n -1 known missense c.3268 p.K1090Q 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC ENSG00000162434 244 0 0.00 150 80 34.78 - - - KCNT2 0 genome.wustl.edu 37 1 196311258 196311258 + Missense_Mutation SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 1 196311258 196311258 C T SNP KCNT2 ENST00000294725 human ensembl 69_37n -1 known missense c.1504 p.E502K 1.000 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 159 0 0.00 227 32 12.36 - - - LILRA3 0 genome.wustl.edu 37 19 54802507 54802507 + Missense_Mutation SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 19 54802507 54802507 C T SNP LILRA3 ENST00000251390 human ensembl 69_37n -1 known missense c.934 p.D312N 0.038 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA3 HGNC ENSG00000170866 59 0 0.00 23 14 37.84 - - - LUZP2 0 genome.wustl.edu 37 11 25098915 25098915 + Missense_Mutation SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 11 25098915 25098915 C T SNP LUZP2 ENST00000336930 human ensembl 69_37n +1 known missense c.899 p.P300L 0.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 472 0 0.00 392 196 33.33 - - - NBPF9 0 genome.wustl.edu 37 1 144827878 144827879 + In_Frame_Ins INS - - AGG TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 1 144827878 144827879 - AGG INS NBPF9 ENST00000375552 human ensembl 69_37n +1 known in_frame_ins c.1757_1758 p.587in_frame_insG 0.025:0.025 NULL pfam_NBPF_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NBPF9 HGNC ENSG00000168614 25 0 0.00 44 6 12.00 - - - NCOA3 0 genome.wustl.edu 37 20 46264773 46264773 + Missense_Mutation SNP T T G TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 20 46264773 46264773 T G SNP NCOA3 ENST00000371998 human ensembl 69_37n +1 known missense c.1643 p.L548W 0.999 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA3 HGNC ENSG00000124151 219 1 0.45 180 90 33.33 - - - NHS 0 genome.wustl.edu 37 X 17745318 17745318 + Missense_Mutation SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 X 17745318 17745318 C T SNP NHS ENST00000380060 human ensembl 69_37n +1 known missense c.3029 p.T1010M 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 581 0 0.00 498 134 21.17 - - - OPHN1 0 genome.wustl.edu 37 X 67339171 67339171 + Missense_Mutation SNP G G C TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 X 67339171 67339171 G C SNP OPHN1 ENST00000355520 human ensembl 69_37n -1 known missense c.1280 p.P427R 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 132 0 0.00 87 68 43.87 - - - PCDH19 0 genome.wustl.edu 37 X 99657715 99657715 + Missense_Mutation SNP G G A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 X 99657715 99657715 G A SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known missense c.2423 p.T808I 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 46 0 0.00 24 17 41.46 - - - PCF11 0 genome.wustl.edu 37 11 82877733 82877733 + Silent SNP A A G TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 11 82877733 82877733 A G SNP PCF11 ENST00000298281 human ensembl 69_37n +1 known silent c.1794 p.K598 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC ENSG00000165494 209 0 0.00 171 99 36.53 - - - PDZD8 0 genome.wustl.edu 37 10 119043132 119043132 + Missense_Mutation SNP A A G TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 10 119043132 119043132 A G SNP PDZD8 ENST00000334464 human ensembl 69_37n -1 known missense c.3112 p.F1038L 1.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 370 0 0.00 233 107 31.47 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 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 113 0 0.00 82 45 35.43 - - - PMS2 0 genome.wustl.edu 37 7 6031635 6031635 + Silent SNP T T C TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 7 6031635 6031635 T C SNP PMS2 ENST00000265849 human ensembl 69_37n -1 known silent c.957 p.P319 0.966 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 47 0 0.00 65 20 23.53 - - - POU4F2 0 genome.wustl.edu 37 4 147561836 147561836 + Missense_Mutation SNP G G A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 4 147561836 147561836 G A SNP POU4F2 ENST00000281321 human ensembl 69_37n +1 known missense c.1106 p.R369Q 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 148 1 0.67 59 20 25.32 - - - PPARGC1B 0 genome.wustl.edu 37 5 149212267 149212267 + Nonsense_Mutation SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 5 149212267 149212267 C T SNP PPARGC1B ENST00000309241 human ensembl 69_37n +1 known nonsense c.631 p.R211* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 115 0 0.00 90 11 10.89 - - - PRPF4 0 genome.wustl.edu 37 9 116050502 116050502 + Frame_Shift_Del DEL G G - TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 9 116050502 116050502 G - DEL PRPF4 ENST00000374198 human ensembl 69_37n +1 known frame_shift_del c.983 p.V329fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 68 0 0.00 52 26 32.91 - - - PSMA8 0 genome.wustl.edu 37 18 23731889 23731889 + Silent SNP G G T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 18 23731889 23731889 G T SNP PSMA8 ENST00000308268 human ensembl 69_37n +1 known silent c.315 p.T105 0.913 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 151 0 0.00 239 66 21.57 - - - RAB11FIP5 0 genome.wustl.edu 37 2 73316121 73316121 + Silent SNP G G A TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 2 73316121 73316121 G A SNP RAB11FIP5 ENST00000258098 human ensembl 69_37n -1 known silent c.754 p.L252 0.967 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP5 HGNC ENSG00000135631 49 0 0.00 17 16 48.48 - - - SDE2 0 genome.wustl.edu 37 1 226173176 226173176 + Missense_Mutation SNP C C G TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 1 226173176 226173176 C G SNP SDE2 ENST00000272091 human ensembl 69_37n -1 known missense c.1183 p.E395Q 0.977 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC ENSG00000143751 193 0 0.00 414 55 11.70 - - - SHD 0 genome.wustl.edu 37 19 4283129 4283129 + Missense_Mutation SNP C C T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 19 4283129 4283129 C T SNP SHD ENST00000543264 human ensembl 69_37n +1 known missense c.482 p.S161F 0.001 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHD HGNC ENSG00000105251 35 0 0.00 20 11 35.48 - - - SLC9C1 0 genome.wustl.edu 37 3 111988846 111988846 + Missense_Mutation SNP T T G TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 3 111988846 111988846 T G SNP SLC9C1 ENST00000305815 human ensembl 69_37n -1 known missense c.692 p.Q231P 0.087 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 214 0 0.00 154 93 37.50 - - - TCF20 0 genome.wustl.edu 37 22 42609296 42609298 + In_Frame_Del DEL GTT GTT - TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 22 42609296 42609298 GTT - DEL TCF20 ENST00000359486 human ensembl 69_37n -1 known in_frame_del c.2016_2014 p.N672in_frame_del 0.563:0.551:0.499 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 341 0 0.00 285 56 16.42 - - - TOX4 0 genome.wustl.edu 37 14 21961324 21961324 + Nonsense_Mutation SNP G G T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 14 21961324 21961324 G T SNP TOX4 ENST00000262709 human ensembl 69_37n +1 known nonsense c.1549 p.E517* 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX4 HGNC ENSG00000092203 131 0 0.00 103 73 41.48 - - - TRIM49C 0 genome.wustl.edu 37 11 89774388 89774388 + Missense_Mutation SNP G G T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 11 89774388 89774388 G T SNP TRIM49C ENST00000448984 human ensembl 69_37n +1 known missense c.1029 p.W343C 0.984 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49C HGNC ENSG00000204449 318 0 0.00 190 119 38.51 - - - VILL 0 genome.wustl.edu 37 3 38039624 38039625 + Frame_Shift_Ins INS - - C TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 3 38039624 38039625 - C INS VILL ENST00000283713 human ensembl 69_37n +1 known frame_shift_ins c.808_809 p.L273fs 0.589:0.638 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC ENSG00000136059 9 0 0.00 4 2 33.33 - - - ZNF639 0 genome.wustl.edu 37 3 179051631 179051631 + Missense_Mutation SNP G G T TCGA-A8-A08T-01A-21W-A019-09 TCGA-A8-A08T-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx af5f43d9-5ff3-4fd8-9c1c-30a88d2bab8e 84831f09-08af-4e3c-93a5-49b058ab40d5 3 179051631 179051631 G T SNP ZNF639 ENST00000326361 human ensembl 69_37n +1 known missense c.879 p.Q293H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 125 0 0.00 94 51 35.17 - - -