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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error NormalRefReads_WU NormalVarReads_WU NormalVAF_WU TumorRefReads_WU TumorVarReads_WU TumorVAF_WU RNARefReads_WU RNAVarReads_WU RNAVAF_WU ENSG00000169164 0 genome.wustl.edu 36 X 55700094 55700094 + Silent SNP G G A TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 X 55700094 55700094 G A SNP ENSG00000169164 ENST00000347911 human ensembl 54_36p -1 known silent c.28 p.L10 0.000 HMMPfam_GAGE HMMPfam_GAGE - no_start_codon:no_stop_codon 498 59 10.57 404 355 46.77 NA NA NA ACVR2B 0 genome.wustl.edu 36 3 38494675 38494675 + Missense_Mutation SNP C C T TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 3 38494675 38494675 C T SNP ACVR2B NM_001106.3 human genbank 54_36p +1 reviewed missense c.410 p.T137M 1.000 NULL HMMPfam_Activin_recp,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,superfamily_Snake toxin-like - no_errors 331 62 15.78 240 183 43.26 NA NA NA COL19A1 0 genome.wustl.edu 36 6 70909420 70909420 + Missense_Mutation SNP C C T TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 6 70909420 70909420 C T SNP COL19A1 NM_001858.4 human genbank 54_36p +1 reviewed missense c.1613 p.P538L 1.000 HMMPfam_Collagen HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl - no_errors 542 68 11.1475409836066 376 253 40.2225755166932 4 0 0.00 RET 0 genome.wustl.edu 36 10 42920506 42920506 + Silent SNP G G T TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 10 42920506 42920506 G T SNP RET NM_020975.4 human genbank 54_36p +1 reviewed silent c.726 p.V242 0.006 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,superfamily_Cadherin,PatternScan_PROTEIN_KINASE_ATP - no_errors 262 53 16.8253968253968 174 132 43.1372549019608 1 0 0.00 ACTA2 0 genome.wustl.edu 36 10 90685089 90685089 + Silent SNP C C T TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 10 90685089 90685089 C T SNP ACTA2 NM_001613.1 human genbank 54_36p -1 reviewed silent c.1005 p.P335 1.000 HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_1,PatternScan_ACTINS_2,superfamily_Actin-like ATPase domain - no_errors 486 0 0 496 1 0.201207243460765 23 0 0.00 IDH2 0 genome.wustl.edu 36 15 88432938 88432938 + Missense_Mutation SNP C C T rs121913502 TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 15 88432938 88432938 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.419 p.R140Q 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 367 49 11.78 136 18 11.69 82 54 39.42 NPM1 0 genome.wustl.edu 36 5 170770148 170770149 + Frame_Shift_Ins INS - - TCTG TCGA-AB-2973-03A-01D-0739-09 TCGA-AB-2973-11A-01D-0739-09 - - - TCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 74dfde23-debb-4c0c-80cb-e06928350b5d cf1f73e2-147b-42f5-8797-004eb789f776 5 170770148 170770149 - TCTG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.859_860 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors 166 27 13.9896373056995 129 67 34.1836734693878 NA NA NA