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 ADAM19 0 genome.wustl.edu 37 5 156945842 156945842 + Missense_Mutation SNP C C G TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 5 156945842 156945842 C G SNP ADAM19 ENST00000394020 human ensembl 69_37n -1 known missense c.661 p.D221H 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 325 0 0.00 215 132 38.04 - - - CEP78 0 genome.wustl.edu 37 9 80856675 80856675 + Missense_Mutation SNP T T C TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 9 80856675 80856675 T C SNP CEP78 ENST00000376597 human ensembl 69_37n +1 known missense c.563 p.L188P 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 247 0 0.00 268 60 18.24 - - - CTCF 0 genome.wustl.edu 37 16 67644796 67644796 + Nonsense_Mutation SNP G G T TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 16 67644796 67644796 G T SNP CTCF ENST00000264010 human ensembl 69_37n +1 known nonsense c.61 p.E21* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 74 0 0.00 5 31 86.11 - - - DAK 0 genome.wustl.edu 37 11 61105416 61105416 + Missense_Mutation SNP T T A TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 11 61105416 61105416 T A SNP DAK ENST00000394900 human ensembl 69_37n +1 known missense c.7 p.S3T 0.974 NULL pfam_Dak1,pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 105 0 0.00 81 51 38.64 - - - DSP 0 genome.wustl.edu 37 6 7583485 7583485 + Missense_Mutation SNP G G T TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 6 7583485 7583485 G T SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.5990 p.G1997V 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 216 0 0.00 143 92 39.15 - - - DSPP 0 genome.wustl.edu 37 4 88537151 88537151 + Missense_Mutation SNP G G A TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 4 88537151 88537151 G A SNP DSPP ENST00000282478 human ensembl 69_37n +1 known missense c.3337 p.D1113N 0.494 NULL NULL - no_errors DSPP HGNC ENSG00000152591 55 0 0.00 44 6 12.00 - - - FMN1 0 genome.wustl.edu 37 15 33256405 33256405 + Frame_Shift_Del DEL T T - TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 15 33256405 33256405 T - DEL FMN1 ENST00000334528 human ensembl 69_37n -1 known frame_shift_del c.2372 p.D791fs 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin - no_errors FMN1 HGNC ENSG00000248905 562 0 0.00 277 186 38.11 - - - HDLBP 0 genome.wustl.edu 37 2 242202328 242202328 + Missense_Mutation SNP G G A TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 2 242202328 242202328 G A SNP HDLBP ENST00000310931 human ensembl 69_37n -1 known missense c.248 p.P83L 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 410 0 0.00 304 222 42.05 - - - HSF1 0 genome.wustl.edu 37 8 145535048 145535048 + Missense_Mutation SNP C C G TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 8 145535048 145535048 C G SNP HSF1 ENST00000528838 human ensembl 69_37n +1 known missense c.606 p.I202M 1.000 NULL pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC ENSG00000185122 92 0 0.00 49 37 43.02 - - - MAP3K1 0 genome.wustl.edu 37 5 56168483 56168483 + Frame_Shift_Del DEL G G - TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 5 56168483 56168483 G - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.1439 p.R480fs 1.000 pfscan_Znf_RING 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 264 0 0.00 95 58 36.48 - - - PEAK1 0 genome.wustl.edu 37 15 77406833 77406833 + Missense_Mutation SNP G G A TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 15 77406833 77406833 G A SNP PEAK1 ENST00000312493 human ensembl 69_37n -1 known missense c.4906 p.R1636W 0.882 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Clone_based_vega_gene ENSG00000173517 248 0 0.00 347 52 13.03 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 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 265 0 0.00 25 240 90.23 - - - TCEB3 0 genome.wustl.edu 37 1 24078169 24078170 + Frame_Shift_Ins INS - - C TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 1 24078169 24078170 - C INS TCEB3 ENST00000418390 human ensembl 69_37n +1 known frame_shift_ins c.1152_1153 p.K385fs 0.000:0.464 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC ENSG00000011007 142 0 0.00 105 61 36.75 - - - TRBV5-4 0 genome.wustl.edu 37 7 142168485 142168485 + Missense_Mutation SNP G G A TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 7 142168485 142168485 G A SNP TRBV5-4 ENST00000454561 human ensembl 69_37n -1 known missense c.238 p.P80S 0.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV5-4 HGNC ENSG00000230099 183 0 0.00 109 75 40.76 - - - TRIM71 0 genome.wustl.edu 37 3 32933232 32933232 + Missense_Mutation SNP G G A TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 3 32933232 32933232 G A SNP TRIM71 ENST00000383763 human ensembl 69_37n +1 known missense c.2536 p.G846S 1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 44 0 0.00 48 28 35.90 - - - TTN 0 genome.wustl.edu 37 2 179514309 179514310 + Frame_Shift_Ins INS - - TG TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 2 179514309 179514310 - TG INS TTN ENST00000589042 human ensembl 69_37n -1 putative frame_shift_ins c.39945_39944 p.K13316fs 0.948:0.886 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 14 0 0.00 1 2 66.67 - - - ZNF215 0 genome.wustl.edu 37 11 6964815 6964815 + Nonsense_Mutation SNP G G T TCGA-E2-A156-01A-11D-A12B-09 TCGA-E2-A156-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 26003dce-0fc6-4538-a392-c80e1ebaa1e4 dd7e44af-58e2-43a5-af9c-29a48df02235 11 6964815 6964815 G T SNP ZNF215 ENST00000278319 human ensembl 69_37n +1 known nonsense c.655 p.E219* 0.009 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 404 0 0.00 225 112 33.23 - - -