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 MT-CO2 0 genome.wustl.edu 36 MT 7962 7962 + Silent SNP T T C TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 MT 7962 7962 T C SNP MT-CO2 ENST00000361739 human ensembl 54_36p +1 known silent c.376 p.L126 NULL HMMPfam_COX2,superfamily_Cupredoxins PatternScan_COX2,HMMPfam_COX2,superfamily_Cupredoxins,HMMPfam_COX2_TM,superfamily_Cytochrome^^_^^c^^_^^oxidase^^_^^subunit^^_^^II-like^^_^^transmembrane^^_^^region - no_errors 2573 33 1.26 227 1109 82.09 NA NA NA SHROOM2 0 genome.wustl.edu 36 X 9822449 9822449 + Silent SNP C C A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 X 9822449 9822449 C A SNP SHROOM2 NM_001649.2 human genbank 54_36p +1 reviewed silent c.501 p.R167 0.890 NULL HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_ASD2,HMMPfam_ASD1 - no_errors 31 0 0.00 81 35 30.17 NA NA NA HSD3B1 0 genome.wustl.edu 36 1 119855801 119855801 + Missense_Mutation SNP G G A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 1 119855801 119855801 G A SNP HSD3B1 NM_000862.2 human genbank 54_36p +1 validated missense c.298 p.V100I 0.976 HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd - no_errors 170 0 0.00 288 84 22.40 NA NA NA LOC730167 0 genome.wustl.edu 36 1 174852074 174852074 + Missense_Mutation SNP G G A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 1 174852074 174852074 G A SNP LOC730167 XM_001134386.1 human genbank 54_36p -1 model missense c.466 p.R156C 1.000 superfamily_(Phosphotyrosine protein) phosphatases II superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 154 1 0.65 212 137 39.03 1 0 0.00 ATP11B 0 genome.wustl.edu 36 3 184065947 184065947 + Missense_Mutation SNP G G A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 3 184065947 184065947 G A SNP ATP11B NM_014616.1 human genbank 54_36p +1 validated missense c.1210 p.V404M 1.000 HMMPfam_Hydrolase,superfamily_SSF56784 HMMPfam_Hydrolase,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660 - no_errors 50 0 0.00 94 43 31.16 53 38 41.76 LOC100133718 0 genome.wustl.edu 36 4 17774 17774 + Missense_Mutation SNP G G A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 4 17774 17774 G A SNP LOC100133718 XM_001713866.1 human genbank 54_36p -1 model missense c.88 p.P30S 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon 377 33 8.05 1078 132 10.81 NA NA NA LOC645181 0 genome.wustl.edu 36 5 84881024 84881024 + RNA SNP C C T TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 5 84881024 84881024 C T SNP LOC645181 XR_017382.2 human genbank 54_36p +1 model rna NULL NULL 0.618 - - - pseudogene 33 1 2.86 71 47 39.50 8 0 0.00 PMPCB 0 genome.wustl.edu 36 7 102727130 102727130 + Missense_Mutation SNP G G T TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 7 102727130 102727130 G T SNP PMPCB NM_004279.2 human genbank 54_36p +1 reviewed missense c.245 p.G82V 1.000 superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16 PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16 - no_errors 94 1 1.05 130 63 32.47 57 75 56.82 CACNA1B 0 genome.wustl.edu 36 9 140063588 140063588 + Missense_Mutation SNP C C T TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 9 140063588 140063588 C T SNP CACNA1B NM_000718.2 human genbank 54_36p +1 validated missense c.3710 p.S1237L 1.000 HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels - no_errors 265 1 0.38 236 138 36.80 NA NA NA FLT3 0 genome.wustl.edu 36 13 27490640 27490640 + Missense_Mutation SNP A A C rs121913487 TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 13 27490640 27490640 A C SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2505 p.D835E 0.991 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726 - no_errors 48 0 0.00 93 24 19.83 309 147 32.24 FAM65A 0 genome.wustl.edu 36 16 66136380 66136380 + Missense_Mutation SNP C C T TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 16 66136380 66136380 C T SNP FAM65A NM_024519.2 human genbank 54_36p +1 validated missense c.2890 p.R964W 0.018 NULL superfamily_ARM-type_fold - no_errors 48 0 0.00 30 32 51.61 16 21 56.76 UPF1 0 genome.wustl.edu 36 19 18824815 18824815 + Missense_Mutation SNP T T A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 19 18824815 18824815 T A SNP UPF1 NM_002911.3 human genbank 54_36p +1 reviewed missense c.992 p.V331D 1.000 NULL HMMPfam_ResIII,HMMPfam_UPF1_Zn_bind,superfamily_SSF52540 - no_errors 40 0 0.00 51 31 37.80 55 42 43.30 TMPRSS15 0 genome.wustl.edu 36 21 18588511 18588511 + Silent SNP G G A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 21 18588511 18588511 G A SNP PRSS7 NM_002772.2 human genbank 54_36p -1 reviewed silent c.2433 p.G811 0.930 HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases HMMPfam_SEA,HMMSmart_SM00200,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMPfam_SRCR,HMMPfam_Trypsin,HMMSmart_SM00020,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,superfamily_Trypsin-like serine proteases,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_SEA domain - no_errors 21 0 0.00 45 30 40.00 NA NA NA BCORL1 0 genome.wustl.edu 36 X 128976217 128976218 + Frame_Shift_Ins INS - - A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 - - - A - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 604f0c72-efc7-4868-bc54-79d8f3f3507b 8fb40399-ec65-44a3-9ca3-700a7728c333 X 128976217 128976218 - A INS BCORL1 NM_021946.2 human genbank 54_36p +1 validated frame_shift_ins c.1788_1789 p.T596fs 0.002:0.198 NULL HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat - no_errors 20 0 0.00 48 32 40.00 17 35 67.31