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 ABCA5 0 genome.wustl.edu 37 17 67246096 67246096 + Missense_Mutation SNP G G A TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 17 67246096 67246096 G A SNP ABCA5 ENST00000392677 human ensembl 69_37n -1 known missense c.4718 p.P1573L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 32 0 0.00 86 24 21.82 - - - ABHD1 0 genome.wustl.edu 37 2 27351965 27351965 + Missense_Mutation SNP T T C TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 2 27351965 27351965 T C SNP ABHD1 ENST00000316470 human ensembl 69_37n +1 known missense c.428 p.L143P 0.802 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD1 HGNC ENSG00000143994 38 0 0.00 45 13 22.41 - - - ANKRD35 0 genome.wustl.edu 37 1 145556634 145556634 + Silent SNP A A G TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 1 145556634 145556634 A G SNP ANKRD35 ENST00000355594 human ensembl 69_37n +1 known silent c.204 p.E68 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD35 HGNC ENSG00000198483 41 0 0.00 86 12 12.24 - - - ATP11A 0 genome.wustl.edu 37 13 113512469 113512469 + Missense_Mutation SNP C C G TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 13 113512469 113512469 C G SNP ATP11A ENST00000471555 human ensembl 69_37n +1 known missense c.794 p.A265G 0.958 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_ion-transptr pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_ion-transptr - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP11A HGNC ENSG00000068650 46 0 0.00 100 29 22.48 - - - C17orf104 0 genome.wustl.edu 37 17 42744021 42744021 + Missense_Mutation SNP C C A TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 17 42744021 42744021 C A SNP C17orf104 ENST00000409122 human ensembl 69_37n +1 known missense c.742 p.H248N 1.000 NULL NULL - no_errors C17orf104 HGNC ENSG00000180336 30 0 0.00 115 49 29.88 - - - CATSPER3 0 genome.wustl.edu 37 5 134347257 134347257 + Missense_Mutation SNP C C G TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 5 134347257 134347257 C G SNP CATSPER3 ENST00000282611 human ensembl 69_37n +1 known missense c.1141 p.L381V 0.970 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 20 0 0.00 106 50 31.85 - - - ENSG00000226232 0 genome.wustl.edu 37 16 70010517 70010519 + In_Frame_Del DEL TGT TGT - TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 16 70010517 70010519 TGT - DEL ENSG00000226232 ENST00000532298 human ensembl 69_37n -1 novel in_frame_del c.761_759 p.Q253in_frame_del 0.600:0.610:0.620 pfam_NPIP pfam_NPIP - no_errors RP11-419C5.2 Clone_based_vega_gene ENSG00000226232 9 0 0.00 8 5 38.46 - - - EPB41 0 genome.wustl.edu 37 1 29344886 29344886 + Frame_Shift_Del DEL T T - TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 1 29344886 29344886 T - DEL EPB41 ENST00000343067 human ensembl 69_37n +1 known frame_shift_del c.1056 p.F353fs 0.951 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 34 0 0.00 96 36 27.07 - - - GPX2 0 genome.wustl.edu 37 14 65406536 65406536 + Missense_Mutation SNP C C G TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 14 65406536 65406536 C G SNP GPX2 ENST00000389614 human ensembl 69_37n -1 known missense c.243 p.E81D 1.000 pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase - pseudogene GPX2 HGNC ENSG00000176153 37 0 0.00 37 7 15.91 - - - GUSBP11 0 genome.wustl.edu 37 22 24037232 24037232 + RNA SNP G G A TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 22 24037232 24037232 G A SNP GUSBP11 ENST00000421064 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GUSBP11 HGNC ENSG00000228315 25 0 0.00 121 29 19.33 - - - KLF4 0 genome.wustl.edu 37 9 110249348 110249348 + Missense_Mutation SNP T T G TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 9 110249348 110249348 T G SNP KLF4 ENST00000374672 human ensembl 69_37n -1 known missense c.1225 p.K409Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 91 0 0.00 195 234 54.55 - - - MAGI2 0 genome.wustl.edu 37 7 77789414 77789414 + Missense_Mutation SNP G G A TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 7 77789414 77789414 G A SNP MAGI2 ENST00000354212 human ensembl 69_37n -1 known missense c.2773 p.R925C 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 39 0 0.00 96 37 27.82 - - - MAP3K1 0 genome.wustl.edu 37 5 56176938 56176938 + Frame_Shift_Del DEL T T - TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 5 56176938 56176938 T - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.2208 p.Y736fs 1.000 superfamily_ARM-type_fold 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 99 0 0.00 178 81 30.57 - - - MUC5B 0 genome.wustl.edu 37 11 1268064 1268064 + Silent SNP C C T TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 11 1268064 1268064 C T SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known silent c.9963 p.A3321 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 9 0 0.00 100 48 32.43 - - - OR8K3 0 genome.wustl.edu 37 11 56085814 56085814 + Missense_Mutation SNP A A T TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 11 56085814 56085814 A T SNP OR8K3 ENST00000312711 human ensembl 69_37n +1 known missense c.32 p.E11V 0.896 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8K3 HGNC ENSG00000181689 44 0 0.00 107 33 23.57 - - - PCDHGA2 0 genome.wustl.edu 37 5 140720953 140720953 + Silent SNP G G A TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 5 140720953 140720953 G A SNP PCDHGA2 ENST00000394576 human ensembl 69_37n +1 known silent c.2415 p.T805 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 42 0 0.00 82 19 18.81 - - - PIK3CA 0 genome.wustl.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A C TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 3 178936095 178936095 A C SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1637 p.Q546P 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 31 0 0.00 75 36 32.43 - - - RET 0 genome.wustl.edu 37 10 43609956 43609956 + Silent SNP G G A TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 10 43609956 43609956 G A SNP RET ENST00000355710 human ensembl 69_37n +1 known silent c.1908 p.T636 0.628 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 25 0 0.00 40 10 20.00 - - - TLE3 0 genome.wustl.edu 37 15 70347454 70347454 + Missense_Mutation SNP G G A TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 15 70347454 70347454 G A SNP TLE3 ENST00000560525 human ensembl 69_37n -1 known missense c.1733 p.A578V 1.000 superfamily_WD40_repeat_dom pfam_Groucho/TLE_N,superfamily_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TLE3 HGNC ENSG00000140332 68 0 0.00 39 18 31.58 - - - XXYLT1 0 genome.wustl.edu 37 3 194877239 194877239 + Missense_Mutation SNP A A G TCGA-B6-A1KI-01A-11D-A14K-09 TCGA-B6-A1KI-10A-01W-A16I-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d9374702-8fc6-48c0-bec5-5c1105e641dc 12983a0c-2f74-4c87-af64-048fbfea9ddd 3 194877239 194877239 A G SNP XXYLT1 ENST00000310380 human ensembl 69_37n -1 known missense c.724 p.F242L 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 70 0 0.00 68 10 12.82 - - -