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 ACTA1 0 genome.wustl.edu 37 1 229567787 229567787 + Missense_Mutation SNP G G T TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 1 229567787 229567787 G T SNP ACTA1 ENST00000366684 human ensembl 69_37n -1 known missense c.762 p.N254K 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTA1 HGNC ENSG00000143632 67 0 0.00 34 20 37.04 - - - DUSP6 0 genome.wustl.edu 37 12 89744753 89744753 + Silent SNP A A G TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 12 89744753 89744753 A G SNP DUSP6 ENST00000279488 human ensembl 69_37n -1 known silent c.450 p.N150 1.000 superfamily_Rhodanese-like_dom,pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP6 HGNC ENSG00000139318 27 0 0.00 16 11 40.74 - - - ELMOD1 0 genome.wustl.edu 37 11 107518302 107518302 + Missense_Mutation SNP G G C TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 11 107518302 107518302 G C SNP ELMOD1 ENST00000265840 human ensembl 69_37n +1 known missense c.529 p.G177R 1.000 pfam_Engulfment_cell_motility_ELMO pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD1 HGNC ENSG00000110675 483 0 0.00 281 114 28.79 - - - ENSG00000214970 0 genome.wustl.edu 37 17 10436640 10436640 + Splice_Site SNP G G T TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 17 10436640 10436640 G T SNP ENSG00000214970 ENST00000399342 human ensembl 69_37n +1 known splice_site c.NULL NULL 1.000 - - - no_errors CTC-297N7.7 Clone_based_vega_gene ENSG00000214970 305 0 0.00 179 59 24.79 - - - FAM160A1 0 genome.wustl.edu 37 4 152571037 152571037 + Missense_Mutation SNP A A C TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 4 152571037 152571037 A C SNP FAM160A1 ENST00000435205 human ensembl 69_37n +1 known missense c.1844 p.K615T 0.099 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A1 HGNC ENSG00000164142 208 0 0.00 104 43 29.25 - - - FER1L6 0 genome.wustl.edu 37 8 125047696 125047696 + Splice_Site SNP G G A TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 8 125047696 125047696 G A SNP FER1L6 ENST00000399018 human ensembl 69_37n +1 known splice_site c.2464+1 e18+1 1.000 - - - no_errors FER1L6 HGNC ENSG00000214814 106 0 0.00 48 27 36.00 - - - FER1L6 0 genome.wustl.edu 37 8 125076805 125076805 + Silent SNP A A G TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 8 125076805 125076805 A G SNP FER1L6 ENST00000399018 human ensembl 69_37n +1 known silent c.3546 p.G1182 0.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors FER1L6 HGNC ENSG00000214814 182 0 0.00 80 44 35.48 - - - GPR63 0 genome.wustl.edu 37 6 97247418 97247418 + Missense_Mutation SNP T T C TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 6 97247418 97247418 T C SNP GPR63 ENST00000229955 human ensembl 69_37n -1 known missense c.190 p.T64A 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 261 0 0.00 121 82 40.20 - - - HECTD4 0 genome.wustl.edu 37 12 112687979 112687979 + Missense_Mutation SNP G G A TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 12 112687979 112687979 G A SNP HECTD4 ENST00000377560 human ensembl 69_37n -1 known missense c.3403 p.R1135C 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 184 0 0.00 130 17 11.56 - - - HIF3A 0 genome.wustl.edu 37 19 46815779 46815779 + Missense_Mutation SNP G G A TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 19 46815779 46815779 G A SNP HIF3A ENST00000472815 human ensembl 69_37n +1 putative missense c.811 p.G271S 1.000 pfam_PAS_fold_3,pfam_PAS_fold,tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HIF3A HGNC ENSG00000124440 77 0 0.00 48 21 30.43 - - - INHBE 0 genome.wustl.edu 37 12 57849486 57849486 + Missense_Mutation SNP A A C TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 12 57849486 57849486 A C SNP INHBE ENST00000266646 human ensembl 69_37n +1 known missense c.167 p.H56P 0.997 pfam_TGF-b_N,prints_Inhibin_betaC pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu - no_errors INHBE HGNC ENSG00000139269 168 1 0.59 64 24 26.97 - - - ITLN1 0 genome.wustl.edu 37 1 160850420 160850420 + Missense_Mutation SNP C C T TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 1 160850420 160850420 C T SNP ITLN1 ENST00000326245 human ensembl 69_37n -1 known missense c.643 p.D215N 0.962 superfamily_Fibrinogen_a/b/g_C superfamily_Fibrinogen_a/b/g_C - no_errors ITLN1 HGNC ENSG00000179914 237 0 0.00 110 75 40.32 - - - KDM2A 0 genome.wustl.edu 37 11 67010479 67010479 + Splice_Site SNP G G T TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 11 67010479 67010479 G T SNP KDM2A ENST00000529006 human ensembl 69_37n +1 known splice_site c.1480-1 e12-1 0.999 - - - no_errors KDM2A HGNC ENSG00000173120 730 0 0.00 416 161 27.90 - - - LRIG1 0 genome.wustl.edu 37 3 66431242 66431242 + Silent SNP C C T TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 3 66431242 66431242 C T SNP LRIG1 ENST00000273261 human ensembl 69_37n -1 known silent c.2814 p.V938 0.001 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG1 HGNC ENSG00000144749 46 0 0.00 26 13 33.33 - - - MTPAP 0 genome.wustl.edu 37 10 30602780 30602780 + Nonsense_Mutation SNP G G A TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 10 30602780 30602780 G A SNP MTPAP ENST00000358107 human ensembl 69_37n -1 known nonsense c.1897 p.R633* 0.999 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 203 0 0.00 136 40 22.73 - - - NEDD9 0 genome.wustl.edu 37 6 11191135 11191135 + Missense_Mutation SNP C C T TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 6 11191135 11191135 C T SNP NEDD9 ENST00000379446 human ensembl 69_37n -1 known missense c.967 p.V323I 0.603 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 78 0 0.00 57 32 35.96 - - - PCDHB6 0 genome.wustl.edu 37 5 140532071 140532071 + Missense_Mutation SNP C C A TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 5 140532071 140532071 C A SNP PCDHB6 ENST00000231136 human ensembl 69_37n +1 known missense c.2233 p.Q745K 0.965 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 219 1 0.45 142 74 34.26 - - - PIEZO2 0 genome.wustl.edu 37 18 10855367 10855367 + Missense_Mutation SNP T T C TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 18 10855367 10855367 T C SNP PIEZO2 ENST00000582913 human ensembl 69_37n -1 known missense c.901 p.N301D 0.206 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 185 0 0.00 137 36 20.81 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 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 276 1 0.36 167 93 35.77 - - - PRKDC 0 genome.wustl.edu 37 8 48743255 48743255 + Missense_Mutation SNP C C T TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 8 48743255 48743255 C T SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.8305 p.V2769I 0.995 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 145 0 0.00 74 40 35.09 - - - SLC35G5 0 genome.wustl.edu 37 8 11188822 11188822 + Silent SNP G G A TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 8 11188822 11188822 G A SNP SLC35G5 ENST00000382435 human ensembl 69_37n +1 known silent c.207 p.S69 1.000 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 395 3 0.75 190 108 35.76 - - - SOX14 0 genome.wustl.edu 37 3 137483952 137483952 + Missense_Mutation SNP G G A TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 3 137483952 137483952 G A SNP SOX14 ENST00000306087 human ensembl 69_37n +1 known missense c.326 p.G109D 1.000 NULL pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX14 HGNC ENSG00000168875 66 0 0.00 31 18 36.00 - - - UCP3 0 genome.wustl.edu 37 11 73717218 73717218 + Silent SNP C C T TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9bd66613-68ad-42c1-ab43-dac1386027f9 55ca01bf-18c0-48b3-b83f-4e13b5161bde 11 73717218 73717218 C T SNP UCP3 ENST00000314032 human ensembl 69_37n -1 known silent c.333 p.A111 0.000 superfamily_Mt_carrier_dom,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors UCP3 HGNC ENSG00000175564 42 0 0.00 28 15 34.88 - - -