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 ATP2B3 0 genome.wustl.edu 36 X 152478458 152478458 + Silent SNP G G A TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc X 152478458 152478458 G A SNP ATP2B3 NM_001001344.1 human genbank 54_36p +1 reviewed silent c.2703 p.T901 0.019 HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M - no_errors 24 0 0.00 9 29 76.32 NA NA NA PRAMEF2 0 genome.wustl.edu 36 1 12842416 12842416 + Missense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 1 12842416 12842416 C T SNP PRAMEF2 NM_023014.1 human genbank 54_36p +1 provisional missense c.569 p.T190M 0.002 superfamily_SSF52047 superfamily_SSF52047 - no_errors 53 1 1.85 67 56 45.53 NA NA NA MYOM3 0 genome.wustl.edu 36 1 24256576 24256576 + Silent SNP G G A TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 1 24256576 24256576 G A SNP MYOM3 NM_152372.3 human genbank 54_36p -1 validated silent c.4179 p.T1393 1.000 HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,PatternScan_EF_HAND_1,superfamily_Immunoglobulin - no_errors 113 5 4.24 87 65 42.21 NA NA NA SLC27A3 0 genome.wustl.edu 36 1 152018355 152018355 + Nonsense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 1 152018355 152018355 C T SNP SLC27A3 ENST00000368659 human ensembl 54_36p +1 known nonsense c.34 p.R12* 0.000 NULL superfamily_SSF56801 - no_errors 149 8 5.10 82 42 33.87 3 1 25.00 MYOC 0 genome.wustl.edu 36 1 169872108 169872108 + Nonsense_Mutation SNP G G T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 1 169872108 169872108 G T SNP MYOC NM_000261.1 human genbank 54_36p -1 reviewed nonsense c.1095 p.Y365* 1.000 HMMPfam_OLF,HMMSmart_SM00284 HMMPfam_OLF,HMMSmart_SM00284 - no_errors 111 2 1.77 128 95 42.41 NA NA NA CLDN18 0 genome.wustl.edu 36 3 139225231 139225231 + Missense_Mutation SNP G G T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 3 139225231 139225231 G T SNP CLDN18 NM_001002026.2 human genbank 54_36p +1 validated missense c.262 p.V88F 0.995 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN - no_errors 292 1 0.34 87 89 50.00 NA NA NA TET2 0 genome.wustl.edu 36 4 106377387 106377387 + Nonsense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 4 106377387 106377387 C T SNP TET2 NM_017628.1 human genbank 54_36p +1 validated nonsense c.2839 p.Q947* 1.000 NULL NULL - no_errors 89 7 7.29 70 46 38.98 22 18 45.00 TTBK1 0 genome.wustl.edu 36 6 43338696 43338696 + Missense_Mutation SNP A A G TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 6 43338696 43338696 A G SNP TTBK1 NM_032538.1 human genbank 54_36p +1 validated missense c.1616 p.D539G 1.000 NULL HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase - no_errors 38 3 7.32 32 16 33.33 NA NA NA SLC26A3 0 genome.wustl.edu 36 7 107218912 107218912 + Silent SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 7 107218912 107218912 C T SNP SLC26A3 NM_000111.2 human genbank 54_36p -1 reviewed silent c.387 p.P129 0.919 NULL HMMPfam_STAS,superfamily_STAS,HMMPfam_Sulfate_transp,PatternScan_SLC26A - no_errors 59 4 6.35 86 65 42.21 NA NA NA PLXNA4 0 genome.wustl.edu 36 7 131516835 131516835 + Missense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 7 131516835 131516835 C T SNP PLXNA4 NM_020911.1 human genbank 54_36p -1 validated missense c.3337 p.E1113K 0.997 HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat - no_errors 138 2 1.43 73 64 46.72 NA NA NA EZH2 0 genome.wustl.edu 36 7 148137095 148137095 + Splice_Site SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 7 148137095 148137095 C T SNP EZH2 NM_004456.3 human genbank 54_36p -1 reviewed splice_site c.2195+1 e18+1 1.000 - - - no_errors 61 0 0.00 124 100 44.44 3 10 76.92 PKHD1L1 0 genome.wustl.edu 36 8 110481706 110481706 + Missense_Mutation SNP G G A TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 8 110481706 110481706 G A SNP PKHD1L1 NM_177531.4 human genbank 54_36p +1 validated missense c.1238 p.R413H 0.999 HMMSmart_SM00710,HMMSmart_SM00758,superfamily_Anthrax protective antigen HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen - no_errors 77 1 1.28 70 41 36.28 NA NA NA JAK2 0 genome.wustl.edu 36 9 5063770 5063770 + Missense_Mutation SNP G G T rs77375493 TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 9 5063770 5063770 G T SNP JAK2 NM_004972.3 human genbank 54_36p +1 reviewed missense c.1849 p.V617F 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_SH2,HMMSmart_SH2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_FERM_1,PatternScan_FERM_2,HMMSmart_B41,superfamily_SSF55550 - no_errors 79 1 1.25 68 40 37.04 14 20 58.82 KRAS 0 genome.wustl.edu 36 12 25289551 25289551 + Missense_Mutation SNP C C T rs121913529 TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 12 25289551 25289551 C T SNP KRAS NM_033360.3 human genbank 54_36p -1 reviewed missense c.35 p.G12D 1.000 HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 11 0 0.00 80 14 14.89 23 8 25.81 DIS3 0 genome.wustl.edu 36 13 72243998 72243998 + Missense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 13 72243998 72243998 C T SNP DIS3 NM_014953.1 human genbank 54_36p -1 validated missense c.1541 p.R514K 0.986 HMMPfam_RNB HMMPfam_RNB,PatternScan_RIBONUCLEASE_II,HMMSmart_SM00670,superfamily_PIN domain-like - no_errors 40 5 11.11 94 66 40.49 19 14 41.18 MYH4 0 genome.wustl.edu 36 17 10296271 10296271 + Silent SNP G G A TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 17 10296271 10296271 G A SNP MYH4 NM_017533.2 human genbank 54_36p -1 validated silent c.3450 p.I1150 1.000 HMMPfam_Myosin_tail_1 HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540 - no_errors 61 4 6.15 60 30 32.61 NA NA NA PSG9 0 genome.wustl.edu 36 19 48463864 48463864 + Silent SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 19 48463864 48463864 C T SNP PSG9 NM_002784.3 human genbank 54_36p -1 validated silent c.342 p.R114 0.015 HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 276 3 1.08 122 114 48.31 NA NA NA RUNX1 0 genome.wustl.edu 36 21 35153662 35153662 + Missense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 21 35153662 35153662 C T SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.592 p.D198N 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 98 1 1.01 61 97 60.62 359 705 66.20 RUNX1 0 genome.wustl.edu 36 21 35174810 35174810 + Missense_Mutation SNP G G A TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 21 35174810 35174810 G A SNP RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed missense c.422 p.S141L 1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 34 1 2.86 62 22 25.88 712 326 31.41 CACNG2 0 genome.wustl.edu 36 22 35428399 35428399 + Missense_Mutation SNP C C T TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 22 35428399 35428399 C T SNP CACNG2 NM_006078.2 human genbank 54_36p -1 reviewed missense c.169 p.V57I 1.000 HMMPfam_PMP22_Claudin HMMPfam_PMP22_Claudin - no_errors 316 4 1.25 48 36 42.86 NA NA NA TET2 0 genome.wustl.edu 36 4 106413250 106413251 + Frame_Shift_Ins INS - - AT TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 - - - AT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 4 106413250 106413251 - AT INS TET2 ENST00000265149 human ensembl 54_36p +1 known frame_shift_ins c.669_670 p.K223fs 1.000:1.000 NULL NULL - no_start_codon 47 0 0.00 129 62 32.46 27 9 25.00 TET2 0 genome.wustl.edu 36 4 106413251 106413252 + Frame_Shift_Ins INS - - TA TCGA-AB-2865-03B-01W-0728-08 TCGA-AB-2865-11B-01W-0729-08 - - - TA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 2f23cee2-d71d-474c-aa2c-0c1df979301c fa23ecef-8a16-4fdb-8033-c547d06013bc 4 106413251 106413252 - TA INS TET2 ENST00000265149 human ensembl 54_36p +1 known frame_shift_ins c.670_671 p.K224fs 1.000:1.000 NULL NULL - no_start_codon 48 0 0.00 191 0 0.00 37 0 0.00