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 TTN 0 genome.wustl.edu 36 2 179184790 179184790 + Missense_Mutation SNP C C T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 2 179184790 179184790 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.38437 p.E12813K 1.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors 10721 2174 15.75 8955 7039 43.5733333333333 49 52 51.49 LOC339970 0 genome.wustl.edu 36 4 68587383 68587383 + RNA SNP G G A TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 4 68587383 68587383 G A SNP LOC339970 XR_038239.1 human genbank 54_36p +1 model rna NULL NULL 0.001 - - - pseudogene 11376 1773 13.1466666666667 9969 9083 46.5666666666667 0 1 100.00 CDHR2 0 genome.wustl.edu 36 5 175948939 175948939 + Missense_Mutation SNP C C T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 5 175948939 175948939 C T SNP PCDH24 NM_017675.3 human genbank 54_36p +1 reviewed missense c.3011 p.P1004L 0.982 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin - no_errors 8521 794 8.65666666666667 5120 5094 47.8133333333333 NA NA NA CALHM3 0 genome.wustl.edu 36 10 105228735 105228735 + Silent SNP C C T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 10 105228735 105228735 C T SNP CALHM3 ENST00000369783 human ensembl 54_36p -1 known silent c.45 p.S15 0.104 NULL NULL - no_errors 11285 3078 20.5166666666667 9204 7466 44.19 NA NA NA SMC3 0 genome.wustl.edu 36 10 112346166 112346166 + Missense_Mutation SNP G G T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 10 112346166 112346166 G T SNP SMC3 NM_005445.3 human genbank 54_36p +1 reviewed missense c.1984 p.G662C 1.000 HMMPfam_SMC_N,superfamily_Smc hinge domain,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain - no_errors 8761 2734 21.7966666666667 9082 7834 50.2833333333333 38 44 53.66 GPR123 0 genome.wustl.edu 36 10 134734535 134734535 + Missense_Mutation SNP C C T rs181856403 TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 10 134734535 134734535 C T SNP GPR123 ENST00000368577 human ensembl 54_36p +1 known missense c.113 p.T38I 0.000 NULL HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors 8148 2276 20.1333333333333 6337 7481 49.96 NA NA NA RPLP0P2 0 genome.wustl.edu 36 11 61152920 61152920 + RNA SNP C C T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 11 61152920 61152920 C T SNP RPLP0P2 NR_002775.2 human genbank 54_36p +1 inferred rna NULL NULL 0.000 - - - pseudogene 15911 1847 11.01 10880 7475 39.0366666666667 NA NA NA SLC15A1 0 genome.wustl.edu 36 13 98176393 98176393 + Nonsense_Mutation SNP C C T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 13 98176393 98176393 C T SNP SLC15A1 NM_005073.3 human genbank 54_36p -1 validated nonsense c.230 p.W77* 1.000 superfamily_MFS general substrate transporter,PatternScan_PTR2_1 HMMPfam_PTR2,superfamily_MFS general substrate transporter,PatternScan_PTR2_1,PatternScan_PTR2_2 - no_errors 9390 1998 15.6766666666667 8439 9910 51.5 NA NA NA GPR183 0 genome.wustl.edu 36 13 98745388 98745388 + Missense_Mutation SNP G G A TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 13 98745388 98745388 G A SNP GPR183 NM_004951.4 human genbank 54_36p -1 reviewed missense c.1013 p.A338V 1.000 superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 7168 1857 20.4166666666667 4671 3872 47.1566666666667 27 45 62.50 CDH24 0 genome.wustl.edu 36 14 22588266 22588266 + Nonsense_Mutation SNP G G T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 14 22588266 22588266 G T SNP CDH24 NM_022478.3 human genbank 54_36p -1 validated nonsense c.1770 p.Y590* 0.998 HMMPfam_Cadherin,superfamily_Cadherin-like HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like - no_errors 4577 1166 15.62 4405 5022 46.8733333333333 3 2 40.00 PDXDC1 0 genome.wustl.edu 36 16 15030292 15030292 + Missense_Mutation SNP G G A TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 16 15030292 15030292 G A SNP PDXDC1 NM_015027.2 human genbank 54_36p +1 validated missense c.1261 p.E421K 0.936 superfamily_PLP-dependent transferases HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases - no_errors 8684 778 8.48 12623 4597 28.0866666666667 44 16 26.23 LOC728896 0 genome.wustl.edu 36 17 43068885 43068885 + Missense_Mutation SNP G G T TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 17 43068885 43068885 G T SNP LOC728896 XM_001719193.1 human genbank 54_36p -1 model missense c.138 p.F46L 0.078 NULL NULL - no_errors 10094 1803 15.19 9861 7311 45.1966666666667 2 0 0.00 PTPRT 0 genome.wustl.edu 36 20 40164254 40164254 + Missense_Mutation SNP G G A TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 20 40164254 40164254 G A SNP PTPRT NM_133170.5 human genbank 54_36p -1 reviewed missense c.3695 p.P1232L 1.000 HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II - no_errors 7222 1981 20.2533333333333 6478 5396 45.2433333333333 NA NA NA DSCAM 0 genome.wustl.edu 36 21 40336315 40336315 + Silent SNP A A G TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 21 40336315 40336315 A G SNP DSCAM NM_001389.3 human genbank 54_36p -1 validated silent c.5539 p.L1847 1.000 NULL HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin - no_errors 8549 1538 14.9733333333333 7622 7923 50.64 NA NA NA DNMT3A 0 genome.wustl.edu 36 2 25317018 25317018 + Frame_Shift_Del DEL A A - TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 A A A - A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 2 25317018 25317018 A - DEL DNMT3A NM_022552.3 human genbank 54_36p -1 reviewed frame_shift_del c.2168 p.L723fs 0.999 HMMPfam_DNA_methylase,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 1146 187 13.80 400 360 45.28 25 0 0.00 NPM1 0 genome.wustl.edu 36 5 170770152 170770153 + Frame_Shift_Ins INS - - CATG TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 - - - CATG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 5 170770152 170770153 - CATG INS NPM1 NM_002520.1 human genbank 54_36p +1 validated frame_shift_ins c.863_864 p.W288fs 1.000:1.000 NULL HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain - no_errors NA NA NA NA NA NA NA NA NA FLT3 0 genome.wustl.edu 36 13 27506273 27506274 + In_Frame_Ins INS - - GAAATCAACGTAGAAGTACTCATTATCTGA TCGA-AB-2993-03A-01D-0739-09 TCGA-AB-2993-11A-01D-0739-09 - - - GAAATCAACGTAGAAGTACTCATTATCTGA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4e956c79-d82b-4d89-9d05-7133e0caf740 c537a524-b89a-4738-8bbe-b00f335d4a75 13 27506273 27506274 - GAAATCAACGTAGAAGTACTCATTATCTGA INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1783_1782 p.594in_frame_insSDNEYFYVDF 1.000:1.000 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 NA NA NA NA NA NA NA NA NA