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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val CAC1I 0 genome.wustl.edu 37 22 40055726 40055726 + Missense_Mutation SNP G G A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 22 40055726 40055726 G A SNP CAC1I ENST00000336649 human ensembl 74_37 +1 known missense c.2491 p.V831I 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CAC1I HGNC ENSG00000100346 tier1 rs199827082 - 40 0 0.00 35 19 35.19 110 0 0.00 62 35 36.08 ATRX 0 genome.wustl.edu 37 X 76939697 76939697 + Nonsense_Mutation SNP C C A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df X 76939697 76939697 C A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.1051 p.E351* 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 18 0 0.00 14 4 22.22 80 0 0.00 37 11 22.92 ENSG00000267943 0 genome.wustl.edu 37 19 53513293 53513293 + R SNP A A C TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 19 53513293 53513293 A C SNP ENSG00000267943 ENST00000596769 human ensembl 74_37 +1 known rna NULL NULL 0.124 - - - no_errors CTD-2620I22.3 Clone_based_vega_gene ENSG00000267943 tier1 - - 20 0 0.00 16 9 36.00 112 0 0.00 77 11 12.50 SATB2 0 genome.wustl.edu 37 2 200245158 200245158 + Missense_Mutation SNP G G A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 2 200245158 200245158 G A SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.526 p.R176C 1.000 superfamily_Lambda_D-bd_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 tier1 - - 58 0 0.00 65 10 13.33 94 0 0.00 56 8 12.31 INPP4B 0 genome.wustl.edu 37 4 143159017 143159017 + Missense_Mutation SNP C C A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 4 143159017 143159017 C A SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.836 p.R279I 1.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 tier1 - - 109 0 0.00 111 15 11.90 43 0 0.00 42 12 22.22 OR5P2 0 genome.wustl.edu 37 11 7817740 7817740 + Silent SNP G G T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 11 7817740 7817740 G T SNP OR5P2 ENST00000329434 human ensembl 74_37 -1 known silent c.750 p.T250 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P2 HGNC ENSG00000183303 tier1 - - 43 0 0.00 30 6 16.67 96 1 1.03 35 11 23.91 RAE1 0 genome.wustl.edu 37 20 55949675 55949675 + Missense_Mutation SNP G G A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 20 55949675 55949675 G A SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known missense c.838 p.A280T 0.973 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 tier1 - - 47 0 0.00 41 7 14.58 154 0 0.00 99 13 11.61 CNGA1 0 genome.wustl.edu 37 4 47945298 47945298 + Missense_Mutation SNP C C A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 4 47945298 47945298 C A SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.556 p.D186Y 0.891 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 tier1 - - 77 0 0.00 115 21 15.44 41 0 0.00 47 6 11.32 TTC22 0 genome.wustl.edu 37 1 55251777 55251777 + Missense_Mutation SNP C C T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 1 55251777 55251777 C T SNP TTC22 ENST00000371276 human ensembl 74_37 -1 known missense c.899 p.R300H 1.000 smart_TPR_repeat smart_TPR_repeat - no_errors TTC22 HGNC ENSG00000006555 tier1 rs145786276 - 58 0 0.00 40 4 9.09 269 0 0.00 113 15 11.72 SYT4 0 genome.wustl.edu 37 18 40853554 40853554 + Silent SNP T T C TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 18 40853554 40853554 T C SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known silent c.840 p.R280 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 - - 77 0 0.00 71 15 17.44 96 0 0.00 54 12 18.18 SHARPIN 0 genome.wustl.edu 37 8 145154476 145154476 + Silent SNP C C T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 8 145154476 145154476 C T SNP SHARPIN ENST00000398712 human ensembl 74_37 -1 known silent c.705 p.A235 0.001 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 tier1 - - 32 0 0.00 34 5 12.50 39 0 0.00 21 5 19.23 BEND4 0 genome.wustl.edu 37 4 42119561 42119561 + Missense_Mutation SNP T T G TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 4 42119561 42119561 T G SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known missense c.1579 p.S527R 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 tier1 - - 45 0 0.00 18 6 25.00 125 0 0.00 70 21 23.08 FGB 0 genome.wustl.edu 37 4 155487708 155487708 + Missense_Mutation SNP A A G TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 4 155487708 155487708 A G SNP FGB ENST00000302068 human ensembl 74_37 +1 known missense c.374 p.N125S 0.009 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGB HGNC ENSG00000171564 tier1 - - 58 0 0.00 37 5 11.90 99 0 0.00 74 9 10.84 BUB1B 0 genome.wustl.edu 37 15 40505677 40505677 + Splice_Site SNP T T C TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 15 40505677 40505677 T C SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known splice_site c.2720+2 e20+2 1.000 - - - no_errors BUB1B HGNC ENSG00000156970 tier1 - - 41 0 0.00 30 7 18.92 125 0 0.00 70 12 14.63 VPS13A 0 genome.wustl.edu 37 9 79933265 79933265 + Missense_Mutation SNP G G A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 9 79933265 79933265 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.5071 p.D1691N 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 103 0 0.00 96 27 21.77 104 0 0.00 87 12 12.12 ZAN 0 genome.wustl.edu 37 7 100365463 100365463 + Missense_Mutation SNP C C T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 7 100365463 100365463 C T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.4870 p.H1624Y 0.007 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 42 0 0.00 26 13 33.33 96 0 0.00 57 14 19.72 MS4A12 0 genome.wustl.edu 37 11 60264870 60264870 + Missense_Mutation SNP G G T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 11 60264870 60264870 G T SNP MS4A12 ENST00000016913 human ensembl 74_37 +1 known missense c.79 p.A27S 0.000 NULL pfam_CD20-like - no_errors MS4A12 HGNC ENSG00000071203 tier1 - - 60 0 0.00 64 20 23.81 170 0 0.00 101 21 17.07 EPHA4 0 genome.wustl.edu 37 2 222283642 222283642 + R SNP C C G TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 2 222283642 222283642 C G SNP EPHA4 ENST00000469354 human ensembl 74_37 -1 putative rna NULL NULL 0.986 - - - no_errors EPHA4 HGNC ENSG00000116106 tier1 - - 55 0 0.00 51 7 12.07 153 0 0.00 76 14 15.56 SON 0 genome.wustl.edu 37 21 34944044 34944044 + R SNP C C G TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 21 34944044 34944044 C G SNP SON ENST00000473102 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors SON HGNC ENSG00000159140 tier1 - - 104 0 0.00 81 19 19.00 181 0 0.00 76 12 13.64 GPR22 0 genome.wustl.edu 37 7 107115000 107115000 + Missense_Mutation SNP G G T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 7 107115000 107115000 G T SNP GPR22 ENST00000304402 human ensembl 74_37 +1 known missense c.495 p.W165C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR22 HGNC ENSG00000172209 tier1 - - 32 0 0.00 20 5 20.00 58 0 0.00 15 17 53.12 CWH43 0 genome.wustl.edu 37 4 48993490 48993490 + Missense_Mutation SNP G G T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 4 48993490 48993490 G T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.255 p.Q85H 1.000 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 tier1 - - 53 0 0.00 53 7 11.67 182 0 0.00 113 18 13.74 MAMDC4 0 genome.wustl.edu 37 9 139752912 139752912 + Missense_Mutation SNP G G T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 9 139752912 139752912 G T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.2972 p.G991V 0.053 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 tier1 - - 30 0 0.00 37 7 15.91 12 0 0.00 7 2 22.22 A2M 0 genome.wustl.edu 37 12 9248236 9248236 + Missense_Mutation SNP C C T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 12 9248236 9248236 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.1912 p.D638N 0.020 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 tier1 - - 84 0 0.00 72 8 10.00 83 0 0.00 49 5 9.26 PCDH15 0 genome.wustl.edu 37 10 55626560 55626560 + Missense_Mutation SNP G G T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 10 55626560 55626560 G T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3559 p.P1187T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 43 0 0.00 57 7 10.94 111 0 0.00 48 4 7.69 FAT1 0 genome.wustl.edu 37 4 187554873 187554873 + Nonsense_Mutation SNP C C A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 4 187554873 187554873 C A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known nonsense c.4288 p.E1430* 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 78 0 0.00 67 6 8.22 165 0 0.00 147 5 3.29 PGR 0 genome.wustl.edu 37 11 100996760 100996760 + Silent SNP G G C TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 11 100996760 100996760 G C SNP PGR ENST00000325455 human ensembl 74_37 -1 known silent c.1767 p.V589 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 tier1 - - 88 0 0.00 92 10 9.71 165 0 0.00 77 4 4.94 KLK13 0 genome.wustl.edu 37 19 51567062 51567062 + Missense_Mutation SNP G G T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 19 51567062 51567062 G T SNP KLK13 ENST00000441527 human ensembl 74_37 -1 known missense c.109 p.P37T 0.000 NULL NULL - no_errors KLK13 HGNC ENSG00000167759 tier1 - - 45 0 0.00 44 7 13.73 148 0 0.00 93 5 5.10 BTN2A2 0 genome.wustl.edu 37 6 26390257 26390257 + Missense_Mutation SNP C C A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 6 26390257 26390257 C A SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known missense c.749 p.P250H 0.023 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 tier1 - - 41 0 0.00 51 5 8.93 151 0 0.00 67 6 8.22 FAM196B 0 genome.wustl.edu 37 5 169309739 169309739 + Silent SNP G G T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 5 169309739 169309739 G T SNP FAM196B ENST00000377365 human ensembl 74_37 -1 known silent c.1164 p.T388 0.012 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 tier1 - - 36 0 0.00 42 4 8.70 88 0 0.00 63 4 5.97 MAST4 0 genome.wustl.edu 37 5 66429429 66429429 + Silent SNP C C T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 5 66429429 66429429 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known silent c.2190 p.Y730 0.995 pfam_Prot_kinase_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_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 tier1 - - 62 0 0.00 84 14 14.29 157 0 0.00 97 9 8.49 CPSF3 0 genome.wustl.edu 37 2 9597080 9597080 + Missense_Mutation SNP A A G TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 2 9597080 9597080 A G SNP CPSF3 ENST00000238112 human ensembl 74_37 +1 known missense c.1622 p.E541G 1.000 pfam_CPSF73-100_C pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3 HGNC ENSG00000119203 tier1 - - 110 0 0.00 96 9 8.57 98 0 0.00 61 4 6.15 NTRK3 0 genome.wustl.edu 37 15 88522367 88522367 + R SNP G G A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 15 88522367 88522367 G A SNP NTRK3 ENST00000558306 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 68 0 0.00 54 13 19.40 133 0 0.00 71 7 8.97 EPB41 0 genome.wustl.edu 37 1 29444350 29444352 + R DEL TTC TTC - TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 TTC TTC TTC - TTC TTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 1 29444350 29444352 TTC - DEL EPB41 ENST00000460378 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors EPB41 HGNC ENSG00000159023 tier1 45 0 0.00 55 14 20.29 180 0 0.00 92 6 6.12 BAIAP2 0 genome.wustl.edu 37 17 79080670 79080670 + Missense_Mutation SNP A A G TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 17 79080670 79080670 A G SNP BAIAP2 ENST00000321300 human ensembl 74_37 +1 known missense c.1463 p.Q488R 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2 HGNC ENSG00000175866 tier1 - - 20 0 0.00 12 5 29.41 1 0 0.00 1 0 0.00 ENSG00000203849 0 genome.wustl.edu 37 1 142620676 142620678 + R DEL ATA ATA - TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 ATA ATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 1 142620676 142620678 ATA - DEL ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.222:0.217:0.212 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 9 0 0.00 12 4 25.00 0 0 0.00 1 0 0.00 ENSG00000221121 0 genome.wustl.edu 37 12 82736380 82736385 + R DEL ATATAC ATATAC - TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 ATATAC ATATAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 12 82736380 82736385 ATATAC - DEL ENSG00000221121 ENST00000408194 human ensembl 74_37 -1 novel rna NULL NULL 0.012:0.010:0.008:0.005:0.002:0.001 - - - no_errors AC083811.1 Clone_based_ensembl_gene ENSG00000221121 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000221281 0 genome.wustl.edu 37 6 67069361 67069362 + R DEL AC AC - TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 6 67069361 67069362 AC - DEL ENSG00000221281 ENST00000408354 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC002485.1 Clone_based_ensembl_gene ENSG00000221281 tier1 18 0 0.00 17 5 22.73 0 0 0.00 0 0 0.00 ENSG00000232274 0 genome.wustl.edu 37 1 143189135 143189135 + R SNP C C T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 1 143189135 143189135 C T SNP ENSG00000232274 ENST00000447389 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs202151544 - 11 0 0.00 11 6 35.29 0 0 0.00 0 0 0.00 FRMPD3 0 genome.wustl.edu 37 X 106846480 106846480 + Silent SNP G G A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df X 106846480 106846480 G A SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known silent c.5310 p.Q1770 0.516 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 - - 26 0 0.00 33 5 13.16 3 0 0.00 3 0 0.00 LOC101927345 0 genome.wustl.edu 37 1 143394413 143394413 + R SNP C C T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 1 143394413 143394413 C T SNP LOC101927345 ENST00000415543 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 rs6696542 - 12 0 0.00 16 10 38.46 0 0 0.00 0 0 0.00 OBSCN 0 genome.wustl.edu 37 1 228451851 228451851 + Silent SNP G G A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 1 228451851 228451851 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.4620 p.A1540 0.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 40 0 0.00 42 9 17.65 0 0 0.00 2 0 0.00 RBMY1J 0 genome.wustl.edu 37 Y 24551698 24551698 + Missense_Mutation SNP C C T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df Y 24551698 24551698 C T SNP RBMY1J ENST00000250831 human ensembl 74_37 +1 known missense c.104 p.S35L 0.970 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RBM1CTR,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMY1J HGNC ENSG00000226941 tier1 - - 24 0 0.00 10 2 16.67 0 0 0.00 0 0 0.00 KIAA1614 0 genome.wustl.edu 37 1 180905484 180905484 + Silent SNP G G A TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 1 180905484 180905484 G A SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known silent c.2439 p.S813 0.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 tier1 - - 32 0 0.00 45 4 8.16 90 0 0.00 49 3 5.77 CALN1 0 genome.wustl.edu 37 7 71275389 71275389 + Missense_Mutation SNP T T C TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 7 71275389 71275389 T C SNP CALN1 ENST00000395275 human ensembl 74_37 -1 known missense c.590 p.N197S 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALN1 HGNC ENSG00000183166 tier1 - - 67 0 0.00 43 4 8.51 104 0 0.00 42 3 6.67 SARM1 0 genome.wustl.edu 37 17 26708340 26708340 + Nonsense_Mutation SNP G G T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 17 26708340 26708340 G T SNP SARM1 ENST00000457710 human ensembl 74_37 +1 novel nonsense c.487 p.E163* 1.000 superfamily_ARM-type_fold pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM - no_errors SARM1 HGNC ENSG00000004139 tier1 - - 54 0 0.00 26 7 21.21 48 0 0.00 35 2 5.41 POP5 0 genome.wustl.edu 37 12 121017374 121017374 + Missense_Mutation SNP G G T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 12 121017374 121017374 G T SNP POP5 ENST00000357500 human ensembl 74_37 -1 known missense c.340 p.L114I 1.000 pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5 pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5 - no_errors POP5 HGNC ENSG00000167272 tier1 - - 34 0 0.00 41 4 8.89 125 0 0.00 94 2 2.08 LRIF1 0 genome.wustl.edu 37 1 111494597 111494597 + Silent SNP A A T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 1 111494597 111494597 A T SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known silent c.909 p.S303 1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 tier1 - - 52 0 0.00 49 5 9.26 111 0 0.00 62 2 3.12 SMYD1 0 genome.wustl.edu 37 2 88387480 88387480 + Silent SNP C C T TCGA-VT-AB3D-01A-12D-A417-09 TCGA-VT-AB3D-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 51932322-cd96-4c1b-a8ba-660637fff36b c94fc63b-bf20-4585-9319-5f35435795df 2 88387480 88387480 C T SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known silent c.414 p.H138 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 tier1 - - 30 0 0.00 28 5 14.71 69 0 0.00 39 2 4.88