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 ABCD1 0 genome.wustl.edu 37 X 153008483 153008483 + Missense_Mutation SNP G G A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 X 153008483 153008483 G A SNP ABCD1 ENST00000218104 human ensembl 69_37n +1 known missense c.1823 p.G608D 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 11 0 0.00 0 3 100.00 - - - AKR1A1 0 genome.wustl.edu 37 1 46033710 46033711 + Frame_Shift_Ins INS - - A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 1 46033710 46033711 - A INS AKR1A1 ENST00000351829 human ensembl 69_37n +1 known frame_shift_ins c.413_414 p.H139fs 0.073:0.229 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1A1 HGNC ENSG00000117448 28 0 0.00 24 11 31.43 - - - ANGPTL2 0 genome.wustl.edu 37 9 129870474 129870474 + Silent SNP C C A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 9 129870474 129870474 C A SNP ANGPTL2 ENST00000373425 human ensembl 69_37n -1 known silent c.537 p.L179 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL2 HGNC ENSG00000136859 43 0 0.00 38 6 13.64 - - - ANK1 0 genome.wustl.edu 37 8 41553949 41553950 + Frame_Shift_Ins INS - - G TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 8 41553949 41553950 - G INS ANK1 ENST00000396942 human ensembl 69_37n -1 known frame_shift_ins c.2892_2891 p.L965fs 0.048:0.999 pfam_ZU5,smart_ZU5,pfscan_ZU5 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 12 0 0.00 8 2 20.00 - - - ATP11A 0 genome.wustl.edu 37 13 113464932 113464932 + Splice_Site SNP G G C TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 13 113464932 113464932 G C SNP ATP11A ENST00000375630 human ensembl 69_37n +1 known splice_site c.334-1 e5-1 1.000 - - - no_errors ATP11A HGNC ENSG00000068650 59 0 0.00 51 17 25.00 - - - B3GALTL 0 genome.wustl.edu 37 13 31903712 31903712 + Silent SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 13 31903712 31903712 C T SNP B3GALTL ENST00000343307 human ensembl 69_37n +1 known silent c.1404 p.I468 0.964 pfam_Fringe-like pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 137 0 0.00 85 40 32.00 - - - C6 0 genome.wustl.edu 37 5 41160256 41160256 + Missense_Mutation SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 5 41160256 41160256 C T SNP C6 ENST00000263413 human ensembl 69_37n -1 known missense c.1672 p.D558N 1.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 164 0 0.00 138 101 42.08 - - - C9orf174 0 genome.wustl.edu 37 9 100070026 100070026 + Missense_Mutation SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 9 100070026 100070026 C T SNP C9orf174 ENST00000357054 human ensembl 69_37n +1 known missense c.406 p.R136W 0.000 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 72 0 0.00 9 25 73.53 - - - CLEC4G 0 genome.wustl.edu 37 19 7795289 7795289 + Missense_Mutation SNP C C G TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 19 7795289 7795289 C G SNP CLEC4G ENST00000328853 human ensembl 69_37n -1 known missense c.426 p.E142D 0.004 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 24 0 0.00 7 7 50.00 - - - CNFN 0 genome.wustl.edu 37 19 42891312 42891312 + Missense_Mutation SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 19 42891312 42891312 C T SNP CNFN ENST00000222032 human ensembl 69_37n -1 known missense c.332 p.R111Q 1.000 NULL pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors CNFN HGNC ENSG00000105427 9 0 0.00 6 5 45.45 - - - COL5A3 0 genome.wustl.edu 37 19 10084293 10084293 + Nonsense_Mutation SNP G G A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 19 10084293 10084293 G A SNP COL5A3 ENST00000264828 human ensembl 69_37n -1 known nonsense c.3619 p.R1207* 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 51 0 0.00 20 18 47.37 - - - CTAGE9 0 genome.wustl.edu 37 6 132031833 132031833 + Missense_Mutation SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 6 132031833 132031833 C T SNP CTAGE9 ENST00000314099 human ensembl 69_37n -1 known missense c.325 p.E109K 0.000 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 290 1 0.34 187 57 23.36 - - - CYHR1 0 genome.wustl.edu 37 8 145689658 145689659 + Frame_Shift_Ins INS - - C TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 8 145689658 145689659 - C INS CYHR1 ENST00000306145 human ensembl 69_37n -1 known frame_shift_ins c.431_430 p.A144fs 0.002:0.000 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 16 0 0.00 4 2 33.33 - - - DPPA2 0 genome.wustl.edu 37 3 109026960 109026960 + Missense_Mutation SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 3 109026960 109026960 C T SNP DPPA2 ENST00000478945 human ensembl 69_37n -1 known missense c.577 p.A193T 0.972 NULL pfscan_SAP_DNA-bd - no_errors DPPA2 HGNC ENSG00000163530 124 0 0.00 126 37 22.70 - - - DST 0 genome.wustl.edu 37 6 56473226 56473226 + Missense_Mutation SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 6 56473226 56473226 C T SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.6101 p.R2034Q 1.000 pfam_Plectin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 146 0 0.00 139 40 22.35 - - - ERAL1 0 genome.wustl.edu 37 17 27185468 27185468 + Missense_Mutation SNP G G A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 17 27185468 27185468 G A SNP ERAL1 ENST00000461894 human ensembl 69_37n +1 known missense c.674 p.S225N 1.000 pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,tigrfam_Small_GTP-bd_dom pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ERAL1 HGNC ENSG00000132591 223 0 0.00 231 35 13.16 - - - ESPL1 0 genome.wustl.edu 37 12 53684751 53684751 + Frame_Shift_Del DEL T T - TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 12 53684751 53684751 T - DEL ESPL1 ENST00000257934 human ensembl 69_37n +1 known frame_shift_del c.5491 p.W1831fs 1.000 pfam_Peptidase_C50 pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 10 0 0.00 3 2 40.00 - - - FAM81A 0 genome.wustl.edu 37 15 59784566 59784566 + Missense_Mutation SNP G G A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 15 59784566 59784566 G A SNP FAM81A ENST00000288228 human ensembl 69_37n +1 known missense c.391 p.D131N 1.000 NULL superfamily_Ferritin/RR-like - no_errors FAM81A HGNC ENSG00000157470 68 0 0.00 50 17 25.37 - - - GPC5 0 genome.wustl.edu 37 13 93518661 93518661 + Missense_Mutation SNP G G T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 13 93518661 93518661 G T SNP GPC5 ENST00000377067 human ensembl 69_37n +1 known missense c.1688 p.S563I 0.140 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 230 0 0.00 179 128 41.69 - - - HUNK 0 genome.wustl.edu 37 21 33331189 33331189 + Silent SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 21 33331189 33331189 C T SNP HUNK ENST00000270112 human ensembl 69_37n +1 known silent c.781 p.L261 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_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HUNK HGNC ENSG00000142149 157 0 0.00 107 17 13.71 - - - ITIH6 0 genome.wustl.edu 37 X 54777709 54777709 + Missense_Mutation SNP G G A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 X 54777709 54777709 G A SNP ITIH6 ENST00000218436 human ensembl 69_37n -1 known missense c.3457 p.R1153W 0.000 pfam_ITI_HC_C pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 39 0 0.00 51 12 19.05 - - - ITPR1 0 genome.wustl.edu 37 3 4853138 4853138 + Missense_Mutation SNP G G A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 3 4853138 4853138 G A SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known missense c.7417 p.V2473I 0.051 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 185 0 0.00 121 21 14.79 - - - LBX2 0 genome.wustl.edu 37 2 74729939 74729940 + Frame_Shift_Ins INS - - C TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 2 74729939 74729940 - C INS LBX2 ENST00000460508 human ensembl 69_37n -1 known frame_shift_ins c.48_47 p.E17fs 0.000:0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors LBX2 HGNC ENSG00000179528 49 0 0.00 23 3 11.54 - - - LTBP4 0 genome.wustl.edu 37 19 41123021 41123021 + Missense_Mutation SNP G G A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 19 41123021 41123021 G A SNP LTBP4 ENST00000308370 human ensembl 69_37n +1 known missense c.3161 p.R1054Q 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 46 0 0.00 27 17 38.64 - - - MAP3K1 0 genome.wustl.edu 37 5 56160761 56160761 + Silent SNP G G A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 5 56160761 56160761 G A SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel silent c.1035 p.Q345 1.000 pfscan_Znf_SWIM pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 127 0 0.00 79 37 31.90 - - - MAP3K1 0 genome.wustl.edu 37 5 56161795 56161795 + Nonsense_Mutation SNP C C A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 5 56161795 56161795 C A SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.1292 p.S431* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 129 0 0.00 84 56 40.00 - - - MLL2 0 genome.wustl.edu 37 12 49444769 49444769 + Silent SNP G G C TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 12 49444769 49444769 G C SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known silent c.2697 p.A899 0.896 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 79 0 0.00 18 21 53.85 - - - MYO1E 0 genome.wustl.edu 37 15 59519659 59519660 + Frame_Shift_Del DEL TG TG - TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 15 59519659 59519660 TG - DEL MYO1E ENST00000288235 human ensembl 69_37n -1 known frame_shift_del c.641_640 p.Q214fs 1.000:1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 107 0 0.00 71 32 31.07 - - - NOP14-AS1 0 genome.wustl.edu 37 4 2952748 2952749 + RNA INS - - A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 4 2952748 2952749 - A INS NOP14-AS1 ENST00000515194 human ensembl 69_37n +1 known rna NULL NULL 0.002:0.003 - - - no_errors NOP14-AS1 HGNC ENSG00000249673 78 0 0.00 36 4 10.00 - - - OSBP2 0 genome.wustl.edu 37 22 31137337 31137338 + Frame_Shift_Ins INS - - G TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 22 31137337 31137338 - G INS OSBP2 ENST00000332585 human ensembl 69_37n +1 known frame_shift_ins c.834_835 p.V278fs 1.000:0.999 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 23 0 0.00 18 6 25.00 - - - PCDHB1 0 genome.wustl.edu 37 5 140433373 140433373 + Missense_Mutation SNP G G A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 5 140433373 140433373 G A SNP PCDHB1 ENST00000306549 human ensembl 69_37n +1 known missense c.2318 p.R773H 0.993 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 143 0 0.00 108 35 24.31 - - - RAB40B 0 genome.wustl.edu 37 17 80615975 80615975 + Missense_Mutation SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 17 80615975 80615975 C T SNP RAB40B ENST00000571995 human ensembl 69_37n -1 known missense c.601 p.V201M 1.000 pfam_SOCS_C,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40B HGNC ENSG00000141542 42 0 0.00 33 5 13.16 - - - RIPK1 0 genome.wustl.edu 37 6 3081257 3081257 + Silent SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 6 3081257 3081257 C T SNP RIPK1 ENST00000259808 human ensembl 69_37n +1 known silent c.366 p.I122 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 255 1 0.39 181 43 19.20 - - - RPL23AP7 0 genome.wustl.edu 37 2 114369806 114369807 + RNA INS - - CTT TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 2 114369806 114369807 - CTT INS RPL23AP7 ENST00000391616 human ensembl 69_37n -1 known rna NULL NULL 1.000:1.000 - - - no_errors AL078621.11 Clone_based_vega_gene ENSG00000240356 8 0 0.00 10 4 28.57 - - - RYR1 0 genome.wustl.edu 37 19 38948842 38948842 + Missense_Mutation SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 19 38948842 38948842 C T SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.2077 p.P693S 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 224 0 0.00 162 27 14.29 - - - SLC26A11 0 genome.wustl.edu 37 17 78195381 78195381 + Silent SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 17 78195381 78195381 C T SNP SLC26A11 ENST00000361193 human ensembl 69_37n +1 known silent c.22 p.L8 0.564 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 10 0 0.00 5 4 44.44 - - - SP4 0 genome.wustl.edu 37 7 21469678 21469678 + Missense_Mutation SNP C C A TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 7 21469678 21469678 C A SNP SP4 ENST00000222584 human ensembl 69_37n +1 known missense c.895 p.Q299K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 86 0 0.00 55 27 32.93 - - - TCF7L2 0 genome.wustl.edu 37 10 114849277 114849277 + Missense_Mutation SNP T T C TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 10 114849277 114849277 T C SNP TCF7L2 ENST00000355717 human ensembl 69_37n +1 known missense c.602 p.V201A 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC ENSG00000148737 62 0 0.00 60 10 14.29 - - - TIGD6 0 genome.wustl.edu 37 5 149375596 149375596 + Missense_Mutation SNP G G C TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 5 149375596 149375596 G C SNP TIGD6 ENST00000296736 human ensembl 69_37n -1 known missense c.316 p.L106V 0.998 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD6 HGNC ENSG00000164296 223 0 0.00 182 39 17.65 - - - TRPC5 0 genome.wustl.edu 37 X 111095568 111095568 + Silent SNP G G C TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 X 111095568 111095568 G C SNP TRPC5 ENST00000262839 human ensembl 69_37n -1 known silent c.1335 p.L445 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 262 0 0.00 265 76 22.29 - - - UBE2Q2 0 genome.wustl.edu 37 15 76146749 76146749 + Missense_Mutation SNP C C T TCGA-A8-A09B-01A-11W-A019-09 TCGA-A8-A09B-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a8be37d2-2743-4fde-9aae-2623b5a03b60 6acddb6d-f866-498b-9b57-f46cbca2cdf9 15 76146749 76146749 C T SNP UBE2Q2 ENST00000267938 human ensembl 69_37n +1 known missense c.203 p.P68L 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q2 HGNC ENSG00000140367 140 0 0.00 71 15 17.44 - - -