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 USP24 0 genome.wustl.edu 36 1 55361707 55361707 + Splice_Site SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 1 55361707 55361707 C T SNP USP24 NM_015306.1 human genbank 54_36p -1 validated splice_site c.3796+1 e33+1 1.000 - - - no_errors 97 2 2.02 170 136 44.16 1 96 96.00 DNMT3A 0 genome.wustl.edu 36 2 25313307 25313307 + Splice_Site SNP A A C TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 2 25313307 25313307 A C SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed splice_site c.2478+2 e20+2 0.998 - - - no_errors 27 0 0.00 14 13 46.43 6 5 45.45 DNMT3A 0 genome.wustl.edu 36 2 25315536 25315536 + Missense_Mutation SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 2 25315536 25315536 C T SNP DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed missense c.2375 p.R792H 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT - no_errors 26 0 0.00 26 19 42.22 20 46 69.70 EPAS1 0 genome.wustl.edu 36 2 46456394 46456394 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 2 46456394 46456394 C T SNP EPAS1 NM_001430.3 human genbank 54_36p +1 validated silent c.948 p.Y316 0.901 HMMSmart_PAC,HMMPfam_PAS_3,superfamily_SSF55785 HMMSmart_PAS,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAC,superfamily_HLH_basic,HMMPfam_PAS_3,HMMPfam_HIF-1a_CTAD,superfamily_SSF55785 - no_errors 126 2 1.56 64 58 47.54 8 0 0.00 PTPRN 0 genome.wustl.edu 36 2 219875113 219875113 + Silent SNP A A C TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 2 219875113 219875113 A C SNP PTPRN NM_002846.2 human genbank 54_36p -1 reviewed silent c.984 p.A328 0.007 NULL HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 98 0 0.00 127 90 41.10 NA NA NA ATP2C1 0 genome.wustl.edu 36 3 132197626 132197626 + Missense_Mutation SNP G G A TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 3 132197626 132197626 G A SNP ATP2C1 NM_001001486.1 human genbank 54_36p +1 reviewed missense c.2107 p.V703I 1.000 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 76 0 0.00 56 50 47.17 66 39 37.14 FAM193A 0 genome.wustl.edu 36 4 2668082 2668082 + Silent SNP G G A TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 4 2668082 2668082 G A SNP C4orf8 NM_003704.3 human genbank 54_36p +1 validated silent c.2598 p.T866 0.983 NULL NULL - no_errors 91 0 0.00 89 68 43.31 26 11 29.73 CRISPLD1 0 genome.wustl.edu 36 8 76092224 76092224 + Missense_Mutation SNP G G A TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 8 76092224 76092224 G A SNP CRISPLD1 NM_031461.4 human genbank 54_36p +1 validated missense c.1111 p.G371S 1.000 HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain HMMSmart_SM00198,HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain,HMMPfam_SCP,superfamily_PR-1-like,PatternScan_CRISP_2 - no_errors 64 0 0.00 38 63 62.38 7 9 56.25 PCDH15 0 genome.wustl.edu 36 10 55257274 55257274 + Missense_Mutation SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 10 55257274 55257274 C T SNP PCDH15 NM_033056.1 human genbank 54_36p -1 reviewed missense c.4252 p.A1418T 0.977 NULL HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like - no_errors 62 0 0.00 22 22 50.00 NA NA NA TET1 0 genome.wustl.edu 36 10 70075610 70075610 + Missense_Mutation SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 10 70075610 70075610 C T SNP TET1 NM_030625.2 human genbank 54_36p +1 validated missense c.3118 p.P1040S 0.000 NULL HMMPfam_zf-CXXC - no_errors 152 0 0.00 78 62 43.66 3 1 25.00 MYO16 0 genome.wustl.edu 36 13 108177890 108177890 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 13 108177890 108177890 C T SNP MYO16 NM_015011.1 human genbank 54_36p +1 validated silent c.399 p.A133 1.000 HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 284 0 0.00 84 67 43.79 NA NA NA ACAN 0 genome.wustl.edu 36 15 87202088 87202088 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 15 87202088 87202088 C T SNP ACAN NM_013227.2 human genbank 54_36p +1 reviewed silent c.4926 p.S1642 0.969 NULL HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,HMMPfam_Lectin_C,HMMSmart_SM00034,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_V-set,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1,superfamily_Immunoglobulin,superfamily_EGF/Laminin - no_errors 36 1 2.70 29 18 38.30 NA NA NA IDH2 0 genome.wustl.edu 36 15 88432842 88432842 + Missense_Mutation SNP C C T rs121913503 TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 15 88432842 88432842 C T SNP IDH2 NM_002168.2 human genbank 54_36p -1 reviewed missense c.515 p.R172K 1.000 HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like - no_errors 78 0 0.00 43 32 42.11 80 81 50.31 CUEDC1 0 genome.wustl.edu 36 17 53317592 53317592 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 17 53317592 53317592 C T SNP CUEDC1 NM_017949.1 human genbank 54_36p -1 provisional silent c.333 p.P111 0.274 NULL HMMPfam_CUE,HMMSmart_SM00546,superfamily_UBA-like - no_errors 18 0 0.00 32 17 34.69 7 3 30.00 MEGF8 0 genome.wustl.edu 36 19 47564893 47564893 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 19 47564893 47564893 C T SNP MEGF8 NM_001410.2 human genbank 54_36p +1 validated silent c.6339 p.D2113 1.000 NULL PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB,HMMSmart_EGF_CA,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_PSI,HMMSmart_PSI,HMMSmart_EGF,HMMPfam_Kelch_1,superfamily_Gal_oxid_central,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57196 - no_errors 84 0 0.00 15 14 48.28 12 6 33.33 SEL1L2 0 genome.wustl.edu 36 20 13806170 13806170 + Missense_Mutation SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 20 13806170 13806170 C T SNP SEL1L2 NM_025229.1 human genbank 54_36p -1 validated missense c.1022 p.G341E 1.000 HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901 HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901 - no_errors 143 0 0.00 81 79 49.38 NA NA NA DOPEY2 0 genome.wustl.edu 36 21 36522005 36522005 + Missense_Mutation SNP C C A TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 21 36522005 36522005 C A SNP DOPEY2 NM_005128.2 human genbank 54_36p +1 validated missense c.1625 p.P542H 1.000 NULL HMMPfam_Dopey_N - no_errors 126 0 0.00 40 28 41.18 18 15 45.45 ASXL2 0 genome.wustl.edu 36 2 25820737 25820738 + Frame_Shift_Ins INS - - CT TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 - - - CT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 2 25820737 25820738 - CT INS ASXL2 NM_018263.4 human genbank 54_36p -1 validated frame_shift_ins c.1973_1972 p.A658fs 1.000:1.000 NULL NULL - no_errors 319 0 0.00 68 39 36.45 13 4 23.53 MPI 0 genome.wustl.edu 36 15 72972172 72972174 + In_Frame_Del DEL GAG GAG - TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 GAG GAG GAG - GAG GAG Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq cebc6078-57bf-4866-a96d-a9e4fdaaf44d e0e506a6-aeda-49ac-9ce5-46792b9b8c25 15 72972172 72972174 GAG - DEL MPI NM_002435.1 human genbank 54_36p +1 reviewed in_frame_del c.463_465 p.E156in_frame_del 0.983:0.998:1.000 HMMPfam_PMI_typeI,superfamily_RmlC-like cupins HMMPfam_PMI_typeI,superfamily_RmlC-like cupins,PatternScan_PMI_I_1,PatternScan_PMI_I_2 - no_errors 0 0 0.00 0 13 20.63 0 3 15.00