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 ACACB 0 genome.wustl.edu 37 12 109617027 109617027 + Missense_Mutation SNP G G T TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 12 109617027 109617027 G T SNP ACACB ENST00000338432 human ensembl 69_37n +1 known missense c.1572 p.Q524H 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 52 0 0.00 83 13 13.54 - - - CAMTA2 0 genome.wustl.edu 37 17 4883016 4883016 + Missense_Mutation SNP G G C TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 17 4883016 4883016 G C SNP CAMTA2 ENST00000414043 human ensembl 69_37n -1 known missense c.1670 p.T557S 0.266 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 78 0 0.00 60 15 20.00 - - - CDH1 0 genome.wustl.edu 37 16 68862178 68862179 + Frame_Shift_Ins INS - - AT TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 16 68862178 68862179 - AT INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.2266_2267 p.E757fs 1.000:1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 152 0 0.00 162 28 14.74 - - - CNBD1 0 genome.wustl.edu 37 8 88365988 88365988 + Nonsense_Mutation SNP C C T TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 8 88365988 88365988 C T SNP CNBD1 ENST00000521593 human ensembl 69_37n +1 putative nonsense c.187 p.Q63* 0.872 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CNBD1 HGNC ENSG00000176571 136 0 0.00 107 21 16.41 - - - ESPL1 0 genome.wustl.edu 37 12 53663662 53663662 + Silent SNP C C A TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 12 53663662 53663662 C A SNP ESPL1 ENST00000257934 human ensembl 69_37n +1 known silent c.936 p.A312 0.012 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ENSG00000135476 82 0 0.00 115 18 13.53 - - - INTS4 0 genome.wustl.edu 37 11 77702264 77702265 + Frame_Shift_Ins INS - - T TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 11 77702264 77702265 - T INS INTS4 ENST00000534064 human ensembl 69_37n -1 known frame_shift_ins c.136_135 p.A45fs 1.000:0.998 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 329 0 0.00 320 47 12.81 - - - KCNV2 0 genome.wustl.edu 37 9 2729502 2729503 + Frame_Shift_Ins INS - - T TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 9 2729502 2729503 - T INS KCNV2 ENST00000382082 human ensembl 69_37n +1 known frame_shift_ins c.1413_1414 p.A473fs 0.998:0.999 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 141 0 0.00 137 16 10.46 - - - KLHL6 0 genome.wustl.edu 37 3 183209733 183209733 + Silent SNP G G A TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 3 183209733 183209733 G A SNP KLHL6 ENST00000341319 human ensembl 69_37n -1 known silent c.1848 p.P616 0.005 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 16 0 0.00 38 7 15.56 - - - LMO4 0 genome.wustl.edu 37 1 87805767 87805767 + Missense_Mutation SNP C C T TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 1 87805767 87805767 C T SNP LMO4 ENST00000370542 human ensembl 69_37n +1 known missense c.371 p.P124L 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO4 HGNC ENSG00000143013 293 0 0.00 184 71 27.84 - - - PTEN 0 genome.wustl.edu 37 10 89685316 89685316 + Splice_Site DEL T T - TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 10 89685316 89685316 T - DEL PTEN ENST00000371953 human ensembl 69_37n +1 known splice_site_del c.209+2 e3+2 1.000 - - - no_errors PTEN HGNC ENSG00000171862 133 0 0.00 71 26 26.26 - - - RBM5 0 genome.wustl.edu 37 3 50151449 50151449 + Frame_Shift_Del DEL T T - TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 3 50151449 50151449 T - DEL RBM5 ENST00000347869 human ensembl 69_37n +1 known frame_shift_del c.1684 p.Q563fs 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 81 0 0.00 72 19 20.65 - - - ZNF595 0 genome.wustl.edu 37 4 86243 86243 + RNA SNP C C A TCGA-BH-A0E9-01B-11D-A10Y-09 TCGA-BH-A0E9-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 48ccd30d-0c71-4117-8ccb-013986f14e95 244a360a-b8b8-4a85-b86d-8138b3d6e397 4 86243 86243 C A SNP ZNF595 ENST00000339368 human ensembl 69_37n +1 known rna NULL NULL 0.667 - - - no_errors ZNF595 HGNC ENSG00000197701 35 0 0.00 35 7 16.67 - - -