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 53458666 53458666 + Missense_Mutation SNP C C T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 X 53458666 53458666 C T SNP SMC1A NM_006306.2 human genbank 54_36p -1 reviewed missense c.287 p.R96H 0.998 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 - no_errors 138 11 7.24 2 8 80.00 1 65 98.48 LOC100130211 0 genome.wustl.edu 36 X 85301946 85301946 + Missense_Mutation SNP G G A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 X 85301946 85301946 G A SNP LOC100130211 XM_001717632.1 human genbank 54_36p -1 model missense c.1055 p.A352V 1.000 NULL HMMPfam_GTP_EFTU,HMMPfam_GTP_EFTU_D3,HMMPfam_GTP_EFTU_D2,superfamily_Translation proteins,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases - pseudogene 30 4 11.76 1 30 96.77 3 0 0.00 PRPF3 0 genome.wustl.edu 36 1 148577342 148577342 + Missense_Mutation SNP T T C TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 1 148577342 148577342 T C SNP PRPF3 NM_004698.2 human genbank 54_36p +1 reviewed missense c.1118 p.I373T 1.000 HMMPfam_PRP3 HMMPfam_PWI,HMMSmart_SM00311,HMMPfam_PRP3,superfamily_PWI domain - no_errors 470 43 8.30 42 42 50.00 42 43 50.59 PSME4 0 genome.wustl.edu 36 2 53982167 53982167 + Missense_Mutation SNP C C A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 2 53982167 53982167 C A SNP PSME4 NM_014614.2 human genbank 54_36p -1 validated missense c.2767 p.G923C 1.000 superfamily_ARM repeat HMMPfam_HEAT,superfamily_ARM repeat - no_errors 96 9 8.57 34 53 60.92 19 25 56.82 SENP7 0 genome.wustl.edu 36 3 102619278 102619278 + Nonsense_Mutation SNP G G A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 3 102619278 102619278 G A SNP SENP7 NM_020654.1 human genbank 54_36p -1 validated nonsense c.331 p.R111* 1.000 NULL HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases - no_errors 116 8 6.45 54 47 46.53 8 6 42.86 TRA2B 0 genome.wustl.edu 36 3 187126059 187126059 + Missense_Mutation SNP G G C TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 G G G C G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 3 187126059 187126059 G C SNP TRA2B NM_004593.2 human genbank 54_36p -1 validated missense c.220 p.R74G 1.000 NULL HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD - no_errors 137 8 5.48 31 37 53.62 150 124 45.09 PCDHB18 0 genome.wustl.edu 36 5 140595924 140595924 + Silent SNP C C A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 5 140595924 140595924 C A SNP PCDHB18 ENST00000274705 human ensembl 54_36p +1 known silent c.1455 p.S485 0.981 HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin - no_errors 51 0 0.00 9 9 50.00 0 0 0.00 MUC17 0 genome.wustl.edu 36 7 100478014 100478014 + Missense_Mutation SNP T T C TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 7 100478014 100478014 T C SNP MUC17 NM_001040105.1 human genbank 54_36p +1 provisional missense c.12433 p.S4145P 0.000 superfamily_EGF/Laminin HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain - no_errors 184 8 4.06 11 12 52.17 NA NA NA SLC18A1 0 genome.wustl.edu 36 8 20082748 20082748 + Missense_Mutation SNP C C T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 8 20082748 20082748 C T SNP SLC18A1 NM_003053.2 human genbank 54_36p -1 validated missense c.8 p.R3Q 0.065 NULL HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter - no_errors 111 9 7.38 33 21 38.89 NA NA NA SMC5 0 genome.wustl.edu 36 9 72110092 72110092 + Missense_Mutation SNP A A T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 9 72110092 72110092 A T SNP SMC5 NM_015110.3 human genbank 54_36p +1 validated missense c.1574 p.K525I 0.794 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,superfamily_SSF52540 - no_errors 108 9 7.50 63 53 45.69 18 18 50.00 KCNA1 0 genome.wustl.edu 36 12 4891072 4891072 + Silent SNP C C T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 12 4891072 4891072 C T SNP KCNA1 NM_000217.2 human genbank 54_36p +1 reviewed silent c.267 p.F89 1.000 HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324 - no_errors 115 10 7.94 34 25 42.37 NA NA NA FANCM 0 genome.wustl.edu 36 14 44703333 44703333 + Missense_Mutation SNP G G A TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 14 44703333 44703333 G A SNP FANCM NM_020937.2 human genbank 54_36p +1 reviewed missense c.1603 p.G535S 1.000 HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_ERCC4,superfamily_RuvA domain 2-like,superfamily_Restriction endonuclease-like,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 122 7 5.38 102 73 41.71 2 3 60.00 LOC642131 0 genome.wustl.edu 36 15 19974541 19974541 + Missense_Mutation SNP T T C TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 15 19974541 19974541 T C SNP LOC642131 XM_001716834.1 human genbank 54_36p -1 model missense c.115 p.K39E 0.784 HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin - no_errors 37 4 9.76 9 8 47.06 2 0 0.00 MAU2 0 genome.wustl.edu 36 19 19326222 19326222 + Missense_Mutation SNP C C T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 19 19326222 19326222 C T SNP KIAA0892 NM_015329.3 human genbank 54_36p +1 validated missense c.1607 p.S536L 0.992 HMMPfam_Cohesin_load,superfamily_TPR-like HMMPfam_Cohesin_load,HMMSmart_SM00028,superfamily_TPR-like - no_errors 39 0 0.00 8 4 33.33 50 46 47.92 VRK3 0 genome.wustl.edu 36 19 55190328 55190328 + Silent SNP C C T TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 19 55190328 55190328 C T SNP VRK3 NM_016440.1 human genbank 54_36p -1 reviewed silent c.696 p.K232 0.991 HMMSmart_SM00220 HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) - no_errors 305 10 3.14 36 25 40.98 30 29 49.15 WT1 0 genome.wustl.edu 36 11 32374486 32374487 + Frame_Shift_Ins INS - - ACCGTACA TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 - - - ACCGTACA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 11 32374486 32374487 - ACCGTACA INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1142_1141 p.S381fs 0.996:0.996 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors NA NA NA NA NA NA NA NA NA FLT3 0 genome.wustl.edu 36 13 27506214 27506215 + In_Frame_Ins INS - - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT TCGA-AB-2844-03B-01W-0728-08 TCGA-AB-2844-11B-01W-0729-08 - - - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 4d9be233-933e-4375-a92d-ffa0ad9b08c8 6dd909da-225d-49c4-9dd0-fc061c8302d9 13 27506214 27506215 - TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins in_frame_ins 0.779:0.796 - - - no_errors NA NA NA NA NA NA NA NA NA