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 ANKRD30BL 0 genome.wustl.edu 37 2 133015299 133015299 + RNA SNP C C T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 2 133015299 133015299 C T SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.007 - - - no_errors ANKRD30BL HGNC ENSG00000163046 36 0 0.00 27 6 17.65 - - - ANKRD36C 0 genome.wustl.edu 37 2 96624383 96624383 + Missense_Mutation SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 2 96624383 96624383 G A SNP ANKRD36C ENST00000456556 human ensembl 69_37n -1 known missense c.1061 p.S354L 0.018 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 105 1 0.94 101 52 33.99 - - - ANKRD7 0 genome.wustl.edu 37 7 117868028 117868028 + Silent SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 7 117868028 117868028 G A SNP ANKRD7 ENST00000357099 human ensembl 69_37n +1 known silent c.222 p.P74 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD7 HGNC ENSG00000106013 62 0 0.00 44 11 20.00 - - - ARAP2 0 genome.wustl.edu 37 4 36160390 36160390 + Missense_Mutation SNP G G T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 4 36160390 36160390 G T SNP ARAP2 ENST00000303965 human ensembl 69_37n -1 known missense c.2714 p.A905D 0.850 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 36 0 0.00 36 4 10.00 - - - ATXN7 0 genome.wustl.edu 37 3 63898572 63898572 + Missense_Mutation SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 3 63898572 63898572 G A SNP ATXN7 ENST00000398590 human ensembl 69_37n +1 known missense c.298 p.E100K 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 48 0 0.00 26 4 13.33 - - - BORA 0 genome.wustl.edu 37 13 73321197 73321197 + Missense_Mutation SNP T T A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 13 73321197 73321197 T A SNP BORA ENST00000390667 human ensembl 69_37n +1 known missense c.1430 p.M477K 1.000 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 73 0 0.00 66 15 18.52 - - - BUB3 0 genome.wustl.edu 37 10 124917337 124917337 + Missense_Mutation SNP G G C TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 10 124917337 124917337 G C SNP BUB3 ENST00000368865 human ensembl 69_37n +1 known missense c.358 p.V120L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BUB3 HGNC ENSG00000154473 105 0 0.00 82 27 24.77 - - - CRABP1 0 genome.wustl.edu 37 15 78632841 78632841 + Splice_Site SNP G G C TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 15 78632841 78632841 G C SNP CRABP1 ENST00000299529 human ensembl 69_37n +1 known splice_site c.70+1 e1+1 1.000 - - - no_errors CRABP1 HGNC ENSG00000166426 117 0 0 55 18 24.66 - - - CRABP1 0 genome.wustl.edu 37 15 78632841 78632841 + Splice_Site SNP G G C TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 15 78632841 78632841 G C SNP CRABP1 ENST00000299529 human ensembl 69_37n +1 known splice_site c.70+1 e1+1 1.000 - - - no_errors CRABP1 HGNC ENSG00000166426 117 0 0.00 55 18 24.66 - - - CXorf64 0 genome.wustl.edu 37 X 125955311 125955311 + Silent SNP G G T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af X 125955311 125955311 G T SNP CXorf64 ENST00000371125 human ensembl 69_37n +1 known silent c.690 p.P230 0.000 NULL NULL - no_errors CXorf64 HGNC ENSG00000183631 123 0 0.00 74 15 16.85 - - - DYSF 0 genome.wustl.edu 37 2 71891438 71891438 + Missense_Mutation SNP C C G TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 2 71891438 71891438 C G SNP DYSF ENST00000413539 human ensembl 69_37n +1 known missense c.5020 p.L1674V 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 56 0 0.00 32 15 31.91 - - - ENAH 0 genome.wustl.edu 37 1 225707103 225707103 + Missense_Mutation SNP C C G TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 1 225707103 225707103 C G SNP ENAH ENST00000366844 human ensembl 69_37n -1 known missense c.599 p.R200P 0.457 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 179 0 0.00 269 32 10.63 - - - FAM19A4 0 genome.wustl.edu 37 3 68788351 68788351 + Splice_Site SNP C C A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 3 68788351 68788351 C A SNP FAM19A4 ENST00000295569 human ensembl 69_37n -1 known splice_site c.287-1 e4-1 1.000 - - - no_errors FAM19A4 HGNC ENSG00000163377 90 0 0.00 56 13 18.84 - - - GEN1 0 genome.wustl.edu 37 2 17941357 17941357 + Missense_Mutation SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 2 17941357 17941357 G A SNP GEN1 ENST00000317402 human ensembl 69_37n +1 known missense c.147 p.M49I 0.953 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors GEN1 HGNC ENSG00000178295 79 0 0.00 57 10 14.93 - - - HTR2C 0 genome.wustl.edu 37 X 114141666 114141666 + Missense_Mutation SNP G G T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af X 114141666 114141666 G T SNP HTR2C ENST00000276198 human ensembl 69_37n +1 known missense c.1065 p.W355C 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2C_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 62 0 0.00 35 11 23.91 - - - INTS4L2 0 genome.wustl.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 7 65150713 65150714 - A INS INTS4L2 ENST00000430126 human ensembl 69_37n +1 known rna NULL NULL 1.000:0.995 - - - no_errors INTS4L2 HGNC ENSG00000232270 8 0 0.00 3 4 57.14 - - - KIAA0196 0 genome.wustl.edu 37 8 126073417 126073417 + Missense_Mutation SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 8 126073417 126073417 G A SNP KIAA0196 ENST00000523273 human ensembl 69_37n -1 putative missense c.278 p.S93L 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA0196 HGNC ENSG00000164961 28 0 0.00 24 41 63.08 - - - KIAA1024 0 genome.wustl.edu 37 15 79750273 79750273 + Missense_Mutation SNP G G C TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 15 79750273 79750273 G C SNP KIAA1024 ENST00000305428 human ensembl 69_37n +1 known missense c.1784 p.S595T 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 45 0 0.00 25 5 16.67 - - - LINC00326 0 genome.wustl.edu 37 6 133427343 133427343 + RNA SNP T T G TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 6 133427343 133427343 T G SNP LINC00326 ENST00000457339 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors LINC00326 HGNC ENSG00000231023 41 0 0.00 62 16 20.51 - - - MUC16 0 genome.wustl.edu 37 19 9027223 9027223 + Missense_Mutation SNP G G T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 19 9027223 9027223 G T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.36663 p.S12221R 0.003 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 77 0 0.00 48 14 22.58 - - - NLRP4 0 genome.wustl.edu 37 19 56370215 56370215 + Missense_Mutation SNP G G T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 19 56370215 56370215 G T SNP NLRP4 ENST00000301295 human ensembl 69_37n +1 known missense c.1456 p.A486S 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 57 0 0.00 33 12 26.67 - - - OR5K4 0 genome.wustl.edu 37 3 98072873 98072873 + Missense_Mutation SNP T T A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 3 98072873 98072873 T A SNP OR5K4 ENST00000354924 human ensembl 69_37n +1 known missense c.176 p.M59K 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5K4 HGNC ENSG00000196098 93 0 0.00 38 48 55.81 - - - OTOA 0 genome.wustl.edu 37 16 21771829 21771829 + Silent SNP C C T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 16 21771829 21771829 C T SNP OTOA ENST00000286149 human ensembl 69_37n +1 known silent c.3430 p.L1144 0.750 NULL NULL - no_errors OTOA HGNC ENSG00000155719 125 0 0.00 98 40 28.99 - - - OTOA 0 genome.wustl.edu 37 16 21771830 21771830 + Missense_Mutation SNP T T G TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 16 21771830 21771830 T G SNP OTOA ENST00000286149 human ensembl 69_37n +1 known missense c.3431 p.L1144R 0.836 NULL NULL - no_errors OTOA HGNC ENSG00000155719 125 0 0.00 97 39 28.68 - - - PCDHB12 0 genome.wustl.edu 37 5 140590534 140590534 + Silent SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 5 140590534 140590534 G A SNP PCDHB12 ENST00000239450 human ensembl 69_37n +1 known silent c.2055 p.S685 0.012 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 216 0 0.00 100 56 35.90 - - - PCDP1 0 genome.wustl.edu 37 2 120303820 120303820 + Missense_Mutation SNP A A T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 2 120303820 120303820 A T SNP PCDP1 ENST00000413369 human ensembl 69_37n +1 known missense c.113 p.E38V 0.996 NULL NULL - no_errors AC069154.2 Clone_based_vega_gene ENSG00000163075 12 0 0.00 5 6 54.55 - - - PDCD11 0 genome.wustl.edu 37 10 105173781 105173781 + Missense_Mutation SNP A A G TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 10 105173781 105173781 A G SNP PDCD11 ENST00000369797 human ensembl 69_37n +1 known missense c.1244 p.N415S 0.689 superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 95 0 0.00 62 36 36.73 - - - PI16 0 genome.wustl.edu 37 6 36930968 36930968 + Missense_Mutation SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 6 36930968 36930968 G A SNP PI16 ENST00000373674 human ensembl 69_37n +1 known missense c.850 p.V284I 0.000 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 84 0 0.00 91 22 19.47 - - - PPM1N 0 genome.wustl.edu 37 19 46002919 46002919 + Missense_Mutation SNP G G T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 19 46002919 46002919 G T SNP PPM1N ENST00000324688 human ensembl 69_37n +1 known missense c.955 p.G319W 0.006 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1N HGNC ENSG00000213889 93 0 0.00 96 22 18.64 - - - PRPF31 0 genome.wustl.edu 37 19 54627965 54627965 + Missense_Mutation SNP T T A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 19 54627965 54627965 T A SNP PRPF31 ENST00000321030 human ensembl 69_37n +1 known missense c.785 p.F262Y 1.000 pfam_SnoRNA-bd_dom pfam_SnoRNA-bd_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC ENSG00000105618 176 0 0.00 52 34 39.53 - - - PTPRT 0 genome.wustl.edu 37 20 41306714 41306714 + Silent SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 20 41306714 41306714 G A SNP PTPRT ENST00000373198 human ensembl 69_37n -1 known silent c.945 p.I315 0.209 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 116 0 0.00 103 19 15.57 - - - REXO1 0 genome.wustl.edu 37 19 1827048 1827050 + In_Frame_Del DEL TGG TGG - TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 TGG TGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 19 1827048 1827050 TGG - DEL REXO1 ENST00000170168 human ensembl 69_37n -1 known in_frame_del c.1740_1738 p.P580in_frame_del 0.000:0.001:0.001 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 11 0 0.00 4 2 33.33 - - - RHNO1 0 genome.wustl.edu 37 12 2997172 2997172 + Silent SNP C C T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 12 2997172 2997172 C T SNP RHNO1 ENST00000489288 human ensembl 69_37n +1 known silent c.264 p.T88 0.000 NULL NULL - no_errors RHNO1 HGNC ENSG00000171792 56 0 0.00 42 6 12.50 - - - SKIV2L2 0 genome.wustl.edu 37 5 54642950 54642950 + Missense_Mutation SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 5 54642950 54642950 G A SNP SKIV2L2 ENST00000230640 human ensembl 69_37n +1 known missense c.1218 p.M406I 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 41 0 0.00 29 4 12.12 - - - SLC4A11 0 genome.wustl.edu 37 20 3209991 3209991 + Splice_Site SNP C C T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 20 3209991 3209991 C T SNP SLC4A11 ENST00000380059 human ensembl 69_37n -1 known splice_site c.1978+1 e15+1 1.000 - - - no_errors SLC4A11 HGNC ENSG00000088836 73 0 0.00 37 36 48.65 - - - SYNDIG1 0 genome.wustl.edu 37 20 24524032 24524032 + Missense_Mutation SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 20 24524032 24524032 G A SNP SYNDIG1 ENST00000376862 human ensembl 69_37n +1 known missense c.299 p.R100H 0.155 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1 HGNC ENSG00000101463 69 0 0.00 50 7 12.28 - - - TMEM132C 0 genome.wustl.edu 37 12 129180412 129180412 + Missense_Mutation SNP C C T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 12 129180412 129180412 C T SNP TMEM132C ENST00000435159 human ensembl 69_37n +1 known missense c.1693 p.R565W 0.828 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 87 0 0.00 43 15 25.86 - - - TP53 0 genome.wustl.edu 37 17 7579355 7579355 + Missense_Mutation SNP A A G TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 17 7579355 7579355 A G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.332 p.L111P 0.684 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 80 0 0.00 20 41 67.21 - - - TRPV5 0 genome.wustl.edu 37 7 142605793 142605793 + Missense_Mutation SNP A A T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 7 142605793 142605793 A T SNP TRPV5 ENST00000265310 human ensembl 69_37n -1 known missense c.2077 p.S693T 0.993 prints_TRPV5_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 71 0 0.00 55 14 20.29 - - - TTC28 0 genome.wustl.edu 37 22 28378267 28378267 + Missense_Mutation SNP G G A TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 22 28378267 28378267 G A SNP TTC28 ENST00000397906 human ensembl 69_37n -1 novel missense c.7388 p.S2463F 0.944 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 93 0 0.00 47 29 37.66 - - - TUBGCP2 0 genome.wustl.edu 37 10 135113636 135113636 + RNA SNP A A T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 10 135113636 135113636 A T SNP TUBGCP2 ENST00000487796 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors TUBGCP2 HGNC ENSG00000130640 28 0 0.00 45 15 25.00 - - - ZNF536 0 genome.wustl.edu 37 19 30935398 30935398 + Missense_Mutation SNP C C T TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 19 30935398 30935398 C T SNP ZNF536 ENST00000355537 human ensembl 69_37n +1 known missense c.929 p.S310L 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 87 0 0.00 51 34 40.00 - - - ZNF784 0 genome.wustl.edu 37 19 56133136 56133136 + Frame_Shift_Del DEL T T - TCGA-A2-A3XX-01A-21D-A23C-09 TCGA-A2-A3XX-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c67409b2-ac25-42a0-8543-4636ef132fe4 e96d5811-4736-40dd-966d-e0e172aeb0af 19 56133136 56133136 T - DEL ZNF784 ENST00000325351 human ensembl 69_37n -1 known frame_shift_del c.953 p.K318fs 0.113 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ENSG00000179922 42 0 0.00 13 2 13.33 - - -