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 MED14 0 genome.wustl.edu 36 X 40416092 40416092 + Missense_Mutation SNP T T C TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 X 40416092 40416092 T C SNP MED14 NM_004229.3 human genbank 54_36p -1 reviewed missense c.3098 p.N1033S 0.797 NULL HMMPfam_MED14 - no_errors 885 121 12.03 86 1241 93.52 1 58 98.31 PHF6 0 genome.wustl.edu 36 X 133375658 133375658 + Missense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 X 133375658 133375658 G A SNP PHF6 NM_001015877.1 human genbank 54_36p +1 reviewed missense c.725 p.C242Y 1.000 NULL HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger - no_errors 334 44 11.64 48 571 92.25 1 25 96.15 TTC39A 0 genome.wustl.edu 36 1 51547674 51547674 + Missense_Mutation SNP C C A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 1 51547674 51547674 C A SNP TTC39A ENST00000371750 human ensembl 54_36p -1 known missense c.443 p.G148V 0.000 HMMPfam_Deme6 HMMPfam_Deme6,HMMSmart_SM00028,superfamily_TPR-like - no_errors 1137 54 4.53 415 385 48.06 NA NA NA GATAD2B 0 genome.wustl.edu 36 1 152057953 152057953 + Nonsense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 1 152057953 152057953 G A SNP GATAD2B NM_020699.2 human genbank 54_36p -1 validated nonsense c.535 p.R179* 1.000 NULL HMMPfam_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716 - no_errors 1286 68 5.02 651 552 45.89 41 20 32.79 MYOC 0 genome.wustl.edu 36 1 169888177 169888177 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 1 169888177 169888177 C T SNP MYOC NM_000261.1 human genbank 54_36p -1 reviewed silent c.198 p.Q66 0.450 NULL HMMPfam_OLF,HMMSmart_SM00284 - no_errors 1293 70 5.13 603 525 46.54 NA NA NA TNR 0 genome.wustl.edu 36 1 173615438 173615438 + Silent SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 1 173615438 173615438 G A SNP TNR NM_003285.2 human genbank 54_36p -1 validated silent c.1836 p.L612 0.635 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_fn3,HMMSmart_SM00060,HMMSmart_SM00181,superfamily_Fibronectin type III,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin - no_errors 1564 96 5.78 913 791 46.42 NA NA NA FAM5C 0 genome.wustl.edu 36 1 188517385 188517385 + Missense_Mutation SNP T T A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 1 188517385 188517385 T A SNP FAM5C NM_199051.1 human genbank 54_36p -1 provisional missense c.355 p.T119S 1.000 HMMPfam_MACPF,HMMSmart_SM00457 HMMPfam_MACPF,HMMSmart_SM00457 - no_errors 772 49 5.95 616 498 44.62 NA NA NA KLHL29 0 genome.wustl.edu 36 2 23779620 23779620 + Missense_Mutation SNP T T G TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 T T T G T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 2 23779620 23779620 T G SNP KLHL29 XM_001717454.1 human genbank 54_36p +1 model missense c.2975 p.L992R 0.898 HMMSmart_SM00612 HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_Kelch_2,HMMPfam_BACK,HMMPfam_BTB - pseudogene:no_stop_codon:bad_bp_length_for_coding_region 316 10 3.06748466257669 204 184 47.4226804123711 0 0 0.00 BOC 0 genome.wustl.edu 36 3 114482133 114482133 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 3 114482133 114482133 C T SNP BOC NM_033254.2 human genbank 54_36p +1 validated silent c.2241 p.G747 0.996 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PatternScan_N6_MTASE,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_CYTOCHROME_P450,superfamily_Immunoglobulin - no_errors 683 71 9.40 546 354 39.33 0 3 100.00 DAGLB 0 genome.wustl.edu 36 7 6427925 6427925 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 7 6427925 6427925 C T SNP DAGLB NM_139179.1 human genbank 54_36p -1 validated silent c.1176 p.V392 0.092 HMMPfam_Lipase_3,superfamily_alpha/beta-Hydrolases HMMPfam_Lipase_3,superfamily_alpha/beta-Hydrolases - no_errors 519 20 3.71057513914657 312 265 45.9272097053726 19 14 42.42 SRCRB4D 0 genome.wustl.edu 36 7 75860727 75860727 + Missense_Mutation SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 7 75860727 75860727 C T SNP SRCRB4D NM_080744.1 human genbank 54_36p -1 provisional missense c.1264 p.D422N 1.000 HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like - no_errors 326 20 5.78 132 135 50.37 NA NA NA KCNQ3 0 genome.wustl.edu 36 8 133251847 133251847 + Missense_Mutation SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 8 133251847 133251847 C T SNP KCNQ3 NM_004519.2 human genbank 54_36p -1 reviewed missense c.1151 p.R384K 1.000 NULL HMMPfam_Ion_trans,HMMPfam_KCNQ_channel,superfamily_SSF81324 - no_errors 634 35 5.23 435 413 48.70 NA NA NA LOC100133655 0 genome.wustl.edu 36 9 23949362 23949362 + Missense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 9 23949362 23949362 G A SNP LOC100133655 XM_001716507.1 human genbank 54_36p +1 model missense c.1672 p.A558T 0.000 NULL NULL - no_start_codon:pseudogene 371 14 3.63636363636364 189 180 48.780487804878 0 0 0.00 TEK 0 genome.wustl.edu 36 9 27203572 27203572 + Missense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 9 27203572 27203572 G A SNP TEK NM_000459.3 human genbank 54_36p +1 reviewed missense c.2968 p.E990K 1.000 HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMPfam_fn3,HMMSmart_FN3,HMMSmart_EGF,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Ig_Tie2_1,superfamily_SSF48726 - no_errors 1650 109 6.20 910 877 48.99 NA NA NA OR4C15 0 genome.wustl.edu 36 11 55079244 55079244 + Missense_Mutation SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 11 55079244 55079244 C T SNP OR4C15 NM_001001920.1 human genbank 54_36p +1 provisional missense c.886 p.H296Y 0.975 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_LECTIN_LEGUME_ALPHA,superfamily_Family A G protein-coupled receptor-like - no_errors 1914 108 5.34 1564 1401 47.25 NA NA NA PRR13 0 genome.wustl.edu 36 12 52126095 52126095 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 12 52126095 52126095 C T SNP PRR13 NM_018457.2 human genbank 54_36p +1 validated silent c.432 p.S144 1.000 NULL NULL - no_errors 422 37 8.06 163 186 53.14 86 84 49.41 ANKRD13A 0 genome.wustl.edu 36 12 108956068 108956068 + Missense_Mutation SNP G G A TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 12 108956068 108956068 G A SNP ANKRD13A NM_033121.1 human genbank 54_36p +1 validated missense c.1432 p.V478M 0.364 NULL HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_UIM,HMMSmart_SM00726 - no_errors 1762 119 6.33 724 594 45.03 39 38 49.35 DDHD1 0 genome.wustl.edu 36 14 52599500 52599500 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 14 52599500 52599500 C T SNP DDHD1 NM_030637.1 human genbank 54_36p -1 provisional silent c.1677 p.L559 1.000 NULL HMMPfam_DDHD - no_errors 1050 78 6.91 924 818 46.96 25 11 30.56 SKOR1 0 genome.wustl.edu 36 15 65905590 65905590 + Missense_Mutation SNP G G T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 15 65905590 65905590 G T SNP LBXCOR1 NM_001031807.1 human genbank 54_36p +1 provisional missense c.343 p.G115C 1.000 HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind,superfamily_SAND_like,HMMPfam_c-SKI_SMAD_bind - no_errors 392 20 4.85436893203883 269 204 43.1289640591966 NA NA NA SEMA7A 0 genome.wustl.edu 36 15 72494038 72494038 + Silent SNP C C T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 15 72494038 72494038 C T SNP SEMA7A NM_003612.1 human genbank 54_36p -1 reviewed silent c.1197 p.T399 0.001 HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMSmart_IG,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726 - no_errors 649 62 8.71 196 156 44.19 10 8 44.44 SDK2 0 genome.wustl.edu 36 17 68908757 68908757 + Missense_Mutation SNP G G T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 17 68908757 68908757 G T SNP SDK2 ENST00000334543 human ensembl 54_36p -1 known missense c.2005 p.P669T 1.000 superfamily_FN_III-like HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726 - no_errors 778 61 7.27 258 263 50.38 0 1 100.00 NPM1 0 genome.wustl.edu 36 5 170770152 170770153 + Frame_Shift_Ins INS - - CATG TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 - - - CATG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 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 WT1 0 genome.wustl.edu 36 11 32374485 32374486 + Frame_Shift_Ins INS - - GACCG TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 - - - GACCG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 11 32374485 32374486 - GACCG INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1143_1142 p.A382fs 0.771:0.996 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 430 10 2.27272727272727 267 178 40 NA NA NA FLT3 0 genome.wustl.edu 36 13 27506256 27506257 + In_Frame_Ins INS - - TCATATTCATATTCATATTCATAT TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 - - - TCATATTCATATTCATATTCATAT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 13 27506256 27506257 - TCATATTCATATTCATATTCATAT INS FLT3 NM_004119.2 human genbank 54_36p -1 reviewed in_frame_ins c.1800_1799 p.600in_frame_insEYEYEYEY 0.998:1.000 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 449 4 0.883002207505519 288 106 26.9035532994924 NA NA NA LRRC37B 0 genome.wustl.edu 36 17 27401222 27401223 + Frame_Shift_Ins INS - - T TCGA-AB-2976-03A-01D-0739-09 TCGA-AB-2976-11A-01D-0739-09 - - - T - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 5bd15984-630f-46a9-a99e-0c24b26f2ed7 fc79912e-0c78-44d9-9951-4b2dfcd349c9 17 27401222 27401223 - T INS LRRC37B NM_052888.2 human genbank 54_36p +1 validated frame_shift_ins c.2764_2765 p.C924fs 0.201:0.224 NULL HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like - no_errors 988 56 5.36 560 1 0.18 9 9 50.00