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 ENSG00000211459 0 genome.wustl.edu 36 MT 1311 1311 + RNA SNP A A G TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 MT 1311 1311 A G SNP ENSG00000211459 ENST00000389680 human ensembl 54_36p +1 novel rna NULL NULL NULL - - - no_errors 1448 12 0.82 2481 2728 52.22 NA NA NA MT-ND1 0 genome.wustl.edu 36 MT 3434 3434 + Missense_Mutation SNP T T C TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 MT 3434 3434 T C SNP MT-ND1 ENST00000361390 human ensembl 54_36p +1 known missense c.127 p.Y43H NULL HMMPfam_NADHdh HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_1,PatternScan_COMPLEX1_ND1_2 - no_errors 888 7 0.78 3097 1726 35.73 NA NA NA MT-ND4 0 genome.wustl.edu 36 MT 10493 10493 + Missense_Mutation SNP T T C TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 MT 10493 10493 T C SNP MT-ND4 ENST00000361335 human ensembl 54_36p +1 known missense c.23 p.I8T NULL HMMPfam_Oxidored_q2 HMMPfam_Oxidored_q2 - no_errors 1004 6 0.59 2833 2041 41.85 NA NA NA MT-ND5 0 genome.wustl.edu 36 MT 13116 13116 + Missense_Mutation SNP T T C TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 MT 13116 13116 T C SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known missense c.779 p.L260P NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors 691 1 0.14 1999 1156 36.59 NA NA NA FAM5C 0 genome.wustl.edu 36 1 188334484 188334484 + Missense_Mutation SNP G G A TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 1 188334484 188334484 G A SNP FAM5C NM_199051.1 human genbank 54_36p -1 provisional missense c.1588 p.R530C 1.000 NULL HMMPfam_MACPF,HMMSmart_SM00457 - no_errors 29 0 0.00 90 62 40.79 NA NA NA TRNT1 0 genome.wustl.edu 36 3 3164779 3164779 + Missense_Mutation SNP A A G TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 3 3164779 3164779 A G SNP TRNT1 NM_182916.2 human genbank 54_36p +1 validated missense c.1246 p.K416E 1.000 superfamily_Poly A polymerase C-terminal region-like HMMPfam_PolyA_pol,superfamily_Nucleotidyltransferase,superfamily_Poly A polymerase C-terminal region-like - no_errors 27 0 0.00 75 62 45.26 16 11 40.74 ZNF502 0 genome.wustl.edu 36 3 44738612 44738612 + Missense_Mutation SNP A A T TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 3 44738612 44738612 A T SNP ZNF502 NM_033210.1 human genbank 54_36p +1 validated missense c.1299 p.K433N 1.000 superfamily_SSF57667 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 153 1 0.64 63 47 42.73 NA NA NA GALNT7 0 genome.wustl.edu 36 4 174456015 174456015 + Silent SNP A A G TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 4 174456015 174456015 A G SNP GALNT7 NM_017423.2 human genbank 54_36p +1 reviewed silent c.1140 p.E380 1.000 HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases - no_errors 42 0 0.00 67 60 47.24 25 18 41.86 CMYA5 0 genome.wustl.edu 36 5 79070167 79070167 + Missense_Mutation SNP C C T TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 5 79070167 79070167 C T SNP CMYA5 NM_153610.3 human genbank 54_36p +1 validated missense c.9823 p.P3275S 0.515 NULL HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like - no_errors 73 0 0.00 149 129 46.40 NA NA NA GPR6 0 genome.wustl.edu 36 6 110407561 110407561 + Missense_Mutation SNP G G A TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 6 110407561 110407561 G A SNP GPR6 NM_005284.3 human genbank 54_36p +1 validated missense c.553 p.V185M 1.000 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 35 0 0.00 44 43 49.43 NA NA NA FAM115A 0 genome.wustl.edu 36 7 143204057 143204057 + Missense_Mutation SNP A A G TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 7 143204057 143204057 A G SNP FAM115A NM_014719.1 human genbank 54_36p -1 predicted missense c.578 p.F193S 0.934 NULL NULL - no_errors 62 0 0.00 13 88 87.13 2 4 66.67 CYP26A1 0 genome.wustl.edu 36 10 94825672 94825672 + Missense_Mutation SNP G G A TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 10 94825672 94825672 G A SNP CYP26A1 NM_000783.3 human genbank 54_36p +1 reviewed missense c.964 p.V322I 0.887 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors 64 1 1.54 33 20 37.74 NA NA NA AP3S2 0 genome.wustl.edu 36 15 88215721 88215721 + Missense_Mutation SNP T T C TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 15 88215721 88215721 T C SNP AP3S2 NM_005829.4 human genbank 54_36p -1 validated missense c.335 p.H112R 1.000 HMMPfam_Clat_adaptor_s,superfamily_SNARE-like HMMPfam_Clat_adaptor_s,PatternScan_CLAT_ADAPTOR_S,superfamily_SNARE-like - no_errors 57 0 0.00 24 14 36.84 18 13 41.94 SSTR4 0 genome.wustl.edu 36 20 22964628 22964628 + Missense_Mutation SNP G G A TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 20 22964628 22964628 G A SNP SSTR4 NM_001052.2 human genbank 54_36p +1 validated missense c.508 p.V170M 0.990 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 28 0 0.00 16 7 30.43 NA NA NA EZH2 0 genome.wustl.edu 36 7 148135695 148135696 + Frame_Shift_Ins INS - - ATGCA TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 - - - ATGCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 7 148135695 148135696 - ATGCA INS EZH2 NM_004456.3 human genbank 54_36p -1 reviewed frame_shift_ins c.2232_2231 p.E745fs 0.985:1.000 NULL HMMSmart_SANT,HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 - no_errors NA NA NA NA NA NA NA NA NA EZH2 0 genome.wustl.edu 36 7 148135696 148135697 + Frame_Shift_Ins INS - - ATGCA TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 - - - ATGCA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 7 148135696 148135697 - ATGCA INS EZH2 NM_004456.3 human genbank 54_36p -1 reviewed frame_shift_ins c.2231_2230 p.I744fs 1.000:1.000 NULL HMMSmart_SANT,HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 - no_errors NA NA NA NA NA NA NA NA NA CBFB 0 genome.wustl.edu 36 16 65673672 65673673 + Frame_Shift_Ins INS - - A TCGA-AB-2817-03B-01W-0728-08 TCGA-AB-2817-11B-01W-0728-08 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 1c97470b-4715-470b-b0c7-9e4807b5fae4 800efb0e-942d-4afc-bdb3-454dc18c6c38 16 65673672 65673673 - A INS CBFB NM_022845.2 human genbank 54_36p +1 reviewed frame_shift_ins c.455_456 p.F153fs 1.000:1.000 HMMPfam_CBF_beta HMMPfam_CBF_beta,superfamily_CBF_beta - no_errors 288 0 0.00 197 0 0.00 12 0 0.00