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 ALPL 249 genome.wustl.edu 36 1 21760242 21760242 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 1 21760242 21760242 G A SNP ALPL NM_000478 human genbank 54_36p 1 reviewed missense c.247 p.E83K 1 HMMPfam_Alk_phosphatase HMMPfam_Alk_phosphatase,superfamily_Alkaline phosphatase-like - no_errors OR5B21 219968 genome.wustl.edu 36 11 58031919 58031919 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 11 58031919 58031919 G A SNP OR5B21 NM_001005218 human genbank 54_36p -1 provisional missense c.236 p.T79M NULL - - no_errors HSP90AA1 3320 genome.wustl.edu 36 14 101621019 101621022 + Frame_Shift_Del DEL TTTC TTTC - Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 TTTC TTTC TTTC - TTTC TTTC Unknown Valid Somatic Phase_III Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 14 101621019 101621022 TTTC - DEL HSP90AA1 NM_001017963 human genbank 54_36p -1 validated frame_shift_del c.1099_1096 p.E366fs 0.847:0.837:0.989:0.994 HMMPfam_HSP90 HSP90,HMMPfam_HSP90,HATPase_c,HMMPfam_HATPase_c,ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HSP90 C-terminal domain (C-terminal part of Pfam 00183),superfamily_HSP90 C-terminal domain (C-terminal part of Pfam 00183),Ribosomal protein S5 domain 2-like,superfamily_Ribosomal protein S5 domain 2-like (deletion:cds_exon[101620771,101621088]) no_errors DCAF7 10238 genome.wustl.edu 36 17 59016391 59016391 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 17 59016391 59016391 C T SNP WDR68 NM_005828 human genbank 54_36p 1 validated missense c.826 p.P276S 1 NULL - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TP53 7157 genome.wustl.edu 36 17 7517819 7517819 + Missense_Mutation SNP G A A rs28934574 Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G A A G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 17 7517819 7517819 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.844 p.R282W 1 HMMPfam_P53 superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD - no_errors CPS1 1373 genome.wustl.edu 36 2 211168489 211168489 + Silent SNP C C T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 2 211168489 211168489 C T SNP CPS1 NM_001875 human genbank 54_36p 1 reviewed silent c.1297 p.L433 1 HMMPfam_CPSase_L_chain HMMPfam_GATase;HMMPfam_CPSase_sm_chain;superfamily_Carbamoyl phosphate synthetase small subunit N-terminal domain;HMMPfam_CPSase_L_D2;HMMPfam_CPSase_L_D3;HMMPfam_CPSase_L_chain;HMMPfam_MGS;superfamily_Carbamoyl phosphate synthetase large subunit connection domain;superfamily_Class I glutamine amidotransferase-like;superfamily_Methylglyoxal synthase-like;superfamily_PreATP-grasp domain;superfamily_Glutathione synthetase ATP-binding domain-like - no_errors TMC2 117532 genome.wustl.edu 36 20 2541940 2541940 + Missense_Mutation SNP G G A novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G A G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 20 2541940 2541940 G A SNP TMC2 NM_080751 human genbank 54_36p 1 validated missense c.1844 p.C615Y 1 NULL - - no_errors PIK3CA 5290 genome.wustl.edu 36 3 180434779 180434779 + Missense_Mutation SNP A A G novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 A A A G A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 3 180434779 180434779 A G SNP PIK3CA NM_006218 human genbank 54_36p 1 reviewed missense c.3140 p.H1047R 1 NULL PI3K_rbd;HMMPfam_PI3K_rbd;PI3_PI4_kinase;HMMPfam_PI3_PI4_kinase;PI3Ka;HMMPfam_PI3Ka;PI3K_C2;HMMPfam_PI3K_C2;PI3K_p85B;HMMPfam_PI3K_p85B - no_errors CSPG5 10675 genome.wustl.edu 36 3 47593978 47593978 + Missense_Mutation SNP C C T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 C C C T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 3 47593978 47593978 C T SNP CSPG5 NM_006574 human genbank 54_36p -1 validated missense c.542 p.G181D 1 HMMPfam_Chon_Sulph_att HMMPfam_Neural_ProG_Cyt;HMMPfam_Chon_Sulph_att;superfamily_EGF/Laminin - no_errors RAD54L2 23132 genome.wustl.edu 36 3 51671746 51671746 + Missense_Mutation SNP G G T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G T G G Unknown Valid Somatic 4 Capture Sanger_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 3 51671746 51671746 G T SNP RAD54L2 NM_015106 human genbank 54_36p 1 validated missense c.3350 p.R1117L 0.36 NULL HMMPfam_SNF2_N;HMMPfam_Helicase_C;superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors UGT2B11 10720 genome.wustl.edu 36 4 70114743 70114743 + Missense_Mutation SNP C C G novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 C C C G C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 4 70114743 70114743 C G SNP UGT2B11 NM_001073 human genbank 54_36p -1 provisional missense c.287 p.R96T 0.01 HMMPfam_UDPGT HMMPfam_UDPGT;superfamily_UDP-Glycosyltransferase/glycogen phosphorylase - no_errors CCNG2 901 genome.wustl.edu 36 4 78306068 78306068 + Silent SNP C T T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 C C T T C C Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 4 78306068 78306068 C T SNP CCNG2 NM_004354 human genbank 54_36p 1 reviewed silent c.1002 p.F334 0.97 NULL - - no_errors PCDHA3 56145 genome.wustl.edu 36 5 140161156 140161156 + Missense_Mutation SNP T T C novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 T T T C T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 5 140161156 140161156 T C SNP PCDHA3 NM_018906 human genbank 54_36p 1 reviewed missense c.190 p.F64L 0.95 NULL - - no_errors ACTBL2 345651 genome.wustl.edu 36 5 56813410 56813410 + Silent SNP G G C novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 G G G C G G Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 5 56813410 56813410 G C SNP ACTBL2 NM_001017992 human genbank 54_36p -1 validated silent c.882 p.L294 1 NULL - - no_errors RIMS2 9699 genome.wustl.edu 36 8 105094889 105094889 + Missense_Mutation SNP T T G novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 T T T G T T Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 8 105094889 105094889 T G SNP RIMS2 NM_001100117 human genbank 54_36p 1 validated missense c.3088 p.S1030A 1 NULL - - no_errors FATE1 89885 genome.wustl.edu 36 X 150641049 150641049 + Silent SNP A A C novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 A A A C A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 X 150641049 150641049 A C SNP FATE1 NM_033085 human genbank 54_36p 1 validated silent c.360 p.A120 NULL - - no_errors LOC643310 643310 genome.wustl.edu 36 X 92430081 92430081 + RNA SNP A A T novel Unknown TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 A A A T A A Unknown Valid Somatic 4 Capture 454_PCR_WGA 1 dbGAP Illumina GAIIx 21f5e805-c0b4-487b-9ccd-02963e2369ff 02b11291-821f-4f6a-9d90-c7ec9c2f3cb9 X 92430081 92430081 A T SNP LOC643310 XR_038903 human genbank 54_36p -1 model rna NULL NULL 1 - - - pseudogene