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 AKT3 0 genome.wustl.edu 37 1 243716076 243716076 + Missense_Mutation SNP G G C TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 1 243716076 243716076 G C SNP AKT3 ENST00000263826 human ensembl 69_37n -1 known missense c.1118 p.A373G 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_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT3 HGNC ENSG00000117020 63 0 0.00 55 8 12.70 - - - AP3S1 0 genome.wustl.edu 37 5 115177803 115177804 + Frame_Shift_Ins INS - - A TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 5 115177803 115177804 - A INS AP3S1 ENST00000316788 human ensembl 69_37n +1 known frame_shift_ins c.69_70 p.S23fs 1.000:1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 9 0 0.00 3 2 40.00 - - - BMPR2 0 genome.wustl.edu 37 2 203417599 203417599 + Missense_Mutation SNP T T A TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 2 203417599 203417599 T A SNP BMPR2 ENST00000374580 human ensembl 69_37n +1 known missense c.1574 p.M525K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 28 0 0.00 16 3 15.79 - - - CCZ1 0 genome.wustl.edu 37 7 5944844 5944844 + Missense_Mutation SNP G G C TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 7 5944844 5944844 G C SNP CCZ1 ENST00000325974 human ensembl 69_37n +1 known missense c.642 p.E214D 0.994 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1 HGNC ENSG00000122674 46 0 0.00 25 5 16.67 - - - CDH1 0 genome.wustl.edu 37 16 68835665 68835666 + Frame_Shift_Del DEL AA AA - TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 16 68835665 68835666 AA - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.256_257 p.R87fs 1.000:0.727 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 67 0 0.00 41 5 10.87 - - - FAM131C 0 genome.wustl.edu 37 1 16386447 16386447 + Missense_Mutation SNP G G C TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 1 16386447 16386447 G C SNP FAM131C ENST00000375662 human ensembl 69_37n -1 known missense c.368 p.P123R 0.000 superfamily_Chromodomain-like superfamily_Chromodomain-like - no_errors FAM131C HGNC ENSG00000185519 12 0 0.00 4 6 60.00 - - - GRM1 0 genome.wustl.edu 37 6 146720188 146720188 + Nonsense_Mutation SNP C C A TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 6 146720188 146720188 C A SNP GRM1 ENST00000282753 human ensembl 69_37n +1 known nonsense c.2013 p.C671* 1.000 pfam_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C - no_errors GRM1 HGNC ENSG00000152822 58 0 0.00 36 5 12.20 - - - KRTAP4-7 0 genome.wustl.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 17 39240627 39240627 T C SNP KRTAP4-7 ENST00000391417 human ensembl 69_37n +1 known missense c.169 p.S57P 0.032 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-7 HGNC ENSG00000240871 44 0 0.00 34 5 12.82 - - - MAP3K1 0 genome.wustl.edu 37 5 56176593 56176594 + Frame_Shift_Ins INS - - GA TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 5 56176593 56176594 - GA INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.2143_2144 p.L717fs 1.000:1.000 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 76 0 0.00 66 10 13.16 - - - PDE4DIP 0 genome.wustl.edu 37 1 145075903 145075903 + RNA SNP C C T TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 1 145075903 145075903 C T SNP PDE4DIP ENST00000528552 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors PDE4DIP HGNC ENSG00000178104 11 0 0.00 12 4 25.00 - - - PTEN 0 genome.wustl.edu 37 10 89711975 89711975 + Missense_Mutation SNP T T A TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 10 89711975 89711975 T A SNP PTEN ENST00000371953 human ensembl 69_37n +1 known missense c.593 p.M198K 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 57 0 0.00 39 7 15.22 - - - QRICH1 0 genome.wustl.edu 37 3 49095083 49095083 + Missense_Mutation SNP C C T TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 3 49095083 49095083 C T SNP QRICH1 ENST00000357496 human ensembl 69_37n -1 known missense c.550 p.E184K 1.000 NULL pfam_DUF3504,superfamily_DEATH-like - no_errors QRICH1 HGNC ENSG00000198218 44 0 0.00 25 4 13.79 - - - RPTOR 0 genome.wustl.edu 37 17 78865584 78865584 + Missense_Mutation SNP T T C TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 17 78865584 78865584 T C SNP RPTOR ENST00000306801 human ensembl 69_37n +1 known missense c.2048 p.L683P 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 33 0 0.00 36 4 10.00 - - - STK39 0 genome.wustl.edu 37 2 168869176 168869176 + Missense_Mutation SNP G G T TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 2 168869176 168869176 G T SNP STK39 ENST00000355999 human ensembl 69_37n -1 known missense c.1466 p.A489D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK39 HGNC ENSG00000198648 48 0 0.00 39 6 13.33 - - - ZNF223 0 genome.wustl.edu 37 19 44570584 44570584 + Missense_Mutation SNP G G C TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 19 44570584 44570584 G C SNP ZNF223 ENST00000591793 human ensembl 69_37n +1 known missense c.933 p.E311D 1.000 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors AC084219.2 Clone_based_vega_gene ENSG00000267022 42 0 0.00 46 8 14.81 - - - ZNF676 0 genome.wustl.edu 37 19 22363737 22363737 + Missense_Mutation SNP C C G TCGA-AC-A2FF-01A-11D-A17D-09 TCGA-AC-A2FF-11A-13D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 81c6c068-2e8f-4130-a49d-099bdcf5f9f7 b5158fe2-6b24-4c31-907f-651d80f35943 19 22363737 22363737 C G SNP ZNF676 ENST00000397121 human ensembl 69_37n -1 known missense c.782 p.G261A 0.018 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 43 0 0.00 43 6 12.24 - - -