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 SMC1A 0 genome.wustl.edu 36 X 53443342 53443342 + Missense_Mutation SNP A A T TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 X 53443342 53443342 A T SNP SMC1A NM_006306.2 human genbank 54_36p -1 reviewed missense c.2456 p.I819N 1.000 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 - no_errors 508 4 0.78 292 353 54.73 71 114 61.62 EPHA8 0 genome.wustl.edu 36 1 22788115 22788115 + Missense_Mutation SNP G G A TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 1 22788115 22788115 G A SNP EPHA8 NM_020526.1 human genbank 54_36p +1 reviewed missense c.1144 p.G382S 0.859 HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SAM,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Gal_bind_like,superfamily_SAM_homology,superfamily_Kinase_like,PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP - no_errors 1114 46 3.96 486 391 44.58 NA NA NA FAM69A 0 genome.wustl.edu 36 1 93082134 93082134 + Silent SNP C C T TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 1 93082134 93082134 C T SNP FAM69A ENST00000370310 human ensembl 54_36p -1 known silent c.681 p.V227 1.000 NULL NULL - no_errors 664 15 2.21 694 528 43.14 3 1 25.00 RAB17 0 genome.wustl.edu 36 2 238150673 238150673 + Missense_Mutation SNP G G A TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 2 238150673 238150673 G A SNP RAB17 NM_022449.2 human genbank 54_36p -1 provisional missense c.401 p.T134M 0.991 HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 - no_errors 1061 33 3.01 295 257 46.47 NA NA NA KIAA1239 0 genome.wustl.edu 36 4 37123097 37123097 + Missense_Mutation SNP A A G TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 4 37123097 37123097 A G SNP KIAA1239 ENST00000309447 human ensembl 54_36p +1 known missense c.1358 p.N453S 1.000 HMMSmart_SM00320,superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1 - no_start_codon 569 8 1.39 264 237 47.31 NA NA NA RFC1 0 genome.wustl.edu 36 4 38984633 38984633 + Missense_Mutation SNP T T C TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 4 38984633 38984633 T C SNP RFC1 NM_002913.3 human genbank 54_36p -1 reviewed missense c.1969 p.T657A 1.000 HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540 HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT,HMMSmart_AAA,HMMPfam_AAA,superfamily_Pol_clamp_load_C,HMMPfam_RFC1,superfamily_SSF52540 - no_errors 1011 18 1.75 999 807 44.59 17 23 57.50 ETF1 0 genome.wustl.edu 36 5 137881160 137881160 + Missense_Mutation SNP A A C TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 A A A C A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 5 137881160 137881160 A C SNP ETF1 NM_004730.2 human genbank 54_36p -1 validated missense c.391 p.F131V 1.000 HMMPfam_eRF1_1,superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1 HMMPfam_eRF1_1,HMMPfam_eRF1_2,HMMPfam_eRF1_3,superfamily_Translational machinery components,superfamily_L30e-like,superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1 - no_errors 225 7 2.99 143 113 43.97 22 35 61.40 STC2 0 genome.wustl.edu 36 5 172677693 172677693 + Silent SNP C C T TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 5 172677693 172677693 C T SNP STC2 NM_003714.2 human genbank 54_36p -1 reviewed silent c.672 p.E224 0.052 HMMPfam_Stanniocalcin HMMPfam_Stanniocalcin - no_errors 547 12 2.15 143 131 47.81 NA NA NA EGFL8 0 genome.wustl.edu 36 6 32243129 32243129 + Missense_Mutation SNP G G A TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 6 32243129 32243129 G A SNP EGFL8 NM_030652.2 human genbank 54_36p +1 validated missense c.626 p.R209H 0.574 NULL PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 2115 47 2.17 552 542 49.50 2 2 50.00 TCTE3 0 genome.wustl.edu 36 6 169885156 169885156 + Missense_Mutation SNP C C T TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 6 169885156 169885156 C T SNP TCTE3 NM_174910.1 human genbank 54_36p -1 provisional missense c.431 p.R144H 0.993 HMMPfam_Tctex-1 HMMPfam_Tctex-1 - no_errors 179 4 2.19 258 206 44.21 2 0 0.00 BMS1 0 genome.wustl.edu 36 10 42609323 42609323 + Silent SNP C C A TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 10 42609323 42609323 C A SNP BMS1 NM_014753.3 human genbank 54_36p +1 reviewed silent c.1107 p.T369 0.980 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_DUF663,HMMPfam_AARP2CN,HMMSmart_SM00785,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 1194 73 5.74 772 703 47.63 19 16 45.71 UNC5B 0 genome.wustl.edu 36 10 72723681 72723681 + Silent SNP G G A TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 10 72723681 72723681 G A SNP UNC5B NM_170744.3 human genbank 54_36p +1 validated silent c.2160 p.T720 0.564 NULL HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin - no_errors 598 10 1.63 176 167 48.55 0 1 100.00 PTPN11 0 genome.wustl.edu 36 12 111411293 111411293 + Missense_Mutation SNP G G C TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 12 111411293 111411293 G C SNP PTPN11 NM_002834.3 human genbank 54_36p +1 reviewed missense c.1530 p.Q510H 1.000 HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain - no_errors 538 10 1.82 830 162 16.33 38 3 7.32 FLT3 0 genome.wustl.edu 36 13 27490642 27490642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 13 27490642 27490642 C A SNP FLT3 NM_004119.2 human genbank 54_36p -1 reviewed missense c.2503 p.D835Y 1.000 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 1451 4 0.27 887 142 13.80 324 77 19.15 ZFHX3 0 genome.wustl.edu 36 16 71378635 71378635 + Missense_Mutation SNP C C T TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 16 71378635 71378635 C T SNP ZFHX3 NM_006885.3 human genbank 54_36p -1 validated missense c.11041 p.G3681S 1.000 NULL HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,superfamily_C2H2 and C2HC zinc fingers - no_errors 1185 33 2.70 304 267 46.76 1 0 0.00 BECN1 0 genome.wustl.edu 36 17 38223906 38223906 + Missense_Mutation SNP T T C TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 17 38223906 38223906 T C SNP BECN1 NM_003766.3 human genbank 54_36p -1 validated missense c.542 p.Q181R 0.968 HMMPfam_APG6 HMMPfam_APG6 - no_errors 1400 36 2.51 330 278 45.50 38 38 50.00 NLRP8 0 genome.wustl.edu 36 19 61158758 61158758 + Missense_Mutation SNP G G C TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 19 61158758 61158758 G C SNP NLRP8 NM_176811.2 human genbank 54_36p +1 provisional missense c.1522 p.V508L 0.003 NULL HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 559 11 1.92 379 332 46.56 NA NA NA LOC100129743 0 genome.wustl.edu 36 2 203613328 203613332 + Frame_Shift_Del DEL CATGC CATGC - TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 CATGC CATGC CATGC - CATGC CATGC Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 2 203613328 203613332 CATGC - DEL LOC100129743 XM_001724736.1 human genbank 54_36p +1 model frame_shift_del c.253_257 p.A86fs 0.952:0.949:0.939:0.920:0.925 NULL HMMPfam_Ribosomal_L30,superfamily_Ribosomal protein L30p/L7e,PatternScan_RIBOSOMAL_L30 - pseudogene NA NA NA NA NA NA NA NA NA NPM1 0 genome.wustl.edu 36 5 170770152 170770153 + Frame_Shift_Ins INS - - CCTG TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 - - - CCTG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 5 170770152 170770153 - CCTG 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 DAOA 0 genome.wustl.edu 36 13 104940386 104940386 + Frame_Shift_Del DEL C C - TCGA-AB-2963-03A-01D-0739-09 TCGA-AB-2963-11A-01D-0739-09 C C C - C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 8876f6ab-618d-4096-9e98-4f2063ef03b1 21a5533c-8f5d-4047-8daa-0ad9d86ea2e3 13 104940386 104940386 C - DEL DAOA NM_172370.3 human genbank 54_36p +1 reviewed frame_shift_del c.417 p.Q140fs 0.000 NULL NULL - no_errors 587 15 2.48 368 276 42.27 0 0 0.00