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 MAP3K1 0 genome.wustl.edu 37 5 56155725 56155726 + Frame_Shift_Del DEL AG AG - TCGA-BH-A0DV-01A-21D-A12Q-09 TCGA-BH-A0DV-11A-22D-A12Q-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 24ee6b1d-3594-4d12-91b3-8ad1b3c98f28 6d183062-662c-4ecb-9a40-01da78c6e733 5 56155725 56155726 AG - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.817_818 p.R273fs 0.959:0.996 NULL 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 71 0 0.00 57 9 13.64 - - - NUAK2 0 genome.wustl.edu 37 1 205274440 205274440 + Missense_Mutation SNP C C A TCGA-BH-A0DV-01A-21D-A12Q-09 TCGA-BH-A0DV-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 24ee6b1d-3594-4d12-91b3-8ad1b3c98f28 6d183062-662c-4ecb-9a40-01da78c6e733 1 205274440 205274440 C A SNP NUAK2 ENST00000367157 human ensembl 69_37n -1 known missense c.710 p.G237V 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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK2 HGNC ENSG00000163545 81 0 0.00 80 11 12.09 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-BH-A0DV-01A-21D-A12Q-09 TCGA-BH-A0DV-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 24ee6b1d-3594-4d12-91b3-8ad1b3c98f28 6d183062-662c-4ecb-9a40-01da78c6e733 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 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 266 0 0.00 124 31 20.00 - - - RSAD1 0 genome.wustl.edu 37 17 48557115 48557115 + Silent SNP G G A TCGA-BH-A0DV-01A-21D-A12Q-09 TCGA-BH-A0DV-11A-22D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 24ee6b1d-3594-4d12-91b3-8ad1b3c98f28 6d183062-662c-4ecb-9a40-01da78c6e733 17 48557115 48557115 G A SNP RSAD1 ENST00000258955 human ensembl 69_37n +1 known silent c.261 p.G87 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 57 0 0.00 50 11 18.03 - - - SHANK1 0 genome.wustl.edu 37 19 51165616 51165616 + Missense_Mutation SNP C C A TCGA-BH-A0DV-01A-21D-A12Q-09 TCGA-BH-A0DV-11A-22D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 24ee6b1d-3594-4d12-91b3-8ad1b3c98f28 6d183062-662c-4ecb-9a40-01da78c6e733 19 51165616 51165616 C A SNP SHANK1 ENST00000391814 human ensembl 69_37n -1 known missense c.6116 p.G2039V 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 76 0 0.00 49 11 18.33 - - -