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 MT-CYB 0 genome.wustl.edu 36 MT 14964 14964 + Missense_Mutation SNP G G A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 MT 14964 14964 G A SNP MT-CYB ENST00000361789 human ensembl 54_36p +1 known missense c.217 p.V73M NULL HMMPfam_Cytochrom_B_N,superfamily_Transmembr_di-haem_cytochrome HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C,superfamily_Transmembr_di-haem_cytochrome - no_stop_codon:bad_bp_length_for_coding_region 2685 32 1.17 3977 523 11.56 NA NA NA SMC1A 0 genome.wustl.edu 36 X 53440262 53440262 + Nonsense_Mutation SNP C C A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 X 53440262 53440262 C A SNP SMC1A NM_006306.2 human genbank 54_36p -1 reviewed nonsense c.2563 p.E855* 1.000 HMMPfam_SMC_N,superfamily_SSF52540 HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540 - no_errors 31 7 18.42 14 122 89.05 0 41 93.18 SPEN 0 genome.wustl.edu 36 1 16075676 16075676 + Missense_Mutation SNP C C G TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 1 16075676 16075676 C G SNP SPEN NM_015001.2 human genbank 54_36p +1 reviewed missense c.797 p.T266R 0.920 NULL HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928 - no_errors 59 1 1.67 61 50 44.25 12 23 65.71 KLHDC7A 0 genome.wustl.edu 36 1 18682068 18682068 + Missense_Mutation SNP C C T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 1 18682068 18682068 C T SNP KLHDC7A NM_152375.2 human genbank 54_36p +1 validated missense c.2006 p.T669M 1.000 superfamily_Gal_oxid_central HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central - no_errors 11 0 0.00 35 14 28.00 NA NA NA NOTCH2 0 genome.wustl.edu 36 1 120266502 120266502 + Missense_Mutation SNP A A T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 1 120266502 120266502 A T SNP NOTCH2 NM_024408.2 human genbank 54_36p -1 reviewed missense c.5093 p.I1698N 1.000 NULL PatternScan_ASX_HYDROXYL,HMMPfam_Notch,HMMSmart_NL,superfamily_Notch_region,HMMSmart_EGF_CA,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_NOD,HMMPfam_NODP,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196 - no_errors 80 1 1.20 85 106 54.36 42 39 48.15 GREB1 0 genome.wustl.edu 36 2 11658497 11658497 + Silent SNP C C T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 2 11658497 11658497 C T SNP GREB1 NM_014668.3 human genbank 54_36p +1 reviewed silent c.2454 p.F818 1.000 NULL NULL - no_errors 67 3 4.29 88 90 50.00 NA NA NA SCTR 0 genome.wustl.edu 36 2 119920929 119920929 + Missense_Mutation SNP C C T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 2 119920929 119920929 C T SNP SCTR NM_002980.2 human genbank 54_36p -1 reviewed missense c.1016 p.R339H 0.995 HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_2,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Family A G protein-coupled receptor-like - no_errors 34 2 5.41 70 64 46.72 NA NA NA EPGN 0 genome.wustl.edu 36 4 75393698 75393698 + Missense_Mutation SNP C C A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 4 75393698 75393698 C A SNP EPGN NM_001013442.1 human genbank 54_36p +1 provisional missense c.68 p.A23E 0.236 NULL HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196 - no_errors 82 4 4.65 92 89 48.63 0 1 100.00 HADH 0 genome.wustl.edu 36 4 109168302 109168302 + Missense_Mutation SNP G G T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 4 109168302 109168302 G T SNP HADH NM_005327.2 human genbank 54_36p +1 reviewed missense c.646 p.G216W 1.000 HMMPfam_3HCDH,PatternScan_3HCDH,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like HMMPfam_3HCDH,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like,superfamily_NAD(P)-binding Rossmann-fold domains - no_errors 127 11 7.86 218 210 48.50 42 42 50.00 ANKRD55 0 genome.wustl.edu 36 5 55491450 55491450 + Silent SNP C C T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 5 55491450 55491450 C T SNP ANKRD55 NM_024669.1 human genbank 54_36p -1 validated silent c.450 p.S150 0.807 HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK - no_errors 108 8 6.90 173 131 42.95 1 0 0.00 PCDH1 0 genome.wustl.edu 36 5 141224245 141224245 + Missense_Mutation SNP A A G TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 5 141224245 141224245 A G SNP PCDH1 NM_032420.3 human genbank 54_36p -1 reviewed missense c.1835 p.F612S 1.000 superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin,PatternScan_GREAB_2 - no_errors 201 10 4.67 257 195 42.58 NA NA NA GABRG2 0 genome.wustl.edu 36 5 161508763 161508763 + Missense_Mutation SNP G G T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 5 161508763 161508763 G T SNP GABRG2 NM_198904.3 human genbank 54_36p +1 reviewed missense c.994 p.V332F 1.000 HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL - no_errors 93 7 7.00 118 93 44.08 NA NA NA GRIK2 0 genome.wustl.edu 36 6 102176522 102176522 + Missense_Mutation SNP A A G TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 6 102176522 102176522 A G SNP GRIK2 NM_021956.3 human genbank 54_36p +1 reviewed missense c.121 p.I41V 1.000 superfamily_Periplasmic binding protein-like I HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II - no_errors 87 2 2.22 139 99 40.91 NA NA NA KCNT1 0 genome.wustl.edu 36 9 137781841 137781841 + Missense_Mutation SNP T T A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 9 137781841 137781841 T A SNP KCNT1 NM_020822.1 human genbank 54_36p +1 provisional missense c.331 p.S111T 1.000 NULL HMMPfam_BK_channel_a,HMMPfam_Ion_trans_2,superfamily_NAD(P)-bd,superfamily_SSF81324 - no_errors 49 2 3.85 49 22 30.56 NA NA NA LRP5 0 genome.wustl.edu 36 11 67871993 67871993 + Missense_Mutation SNP C C T TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 11 67871993 67871993 C T SNP LRP5 NM_002335.2 human genbank 54_36p +1 validated missense c.194 p.A65V 1.000 HMMSmart_SM00135,superfamily_YWTD domain HMMPfam_Ldl_recept_b,HMMSmart_SM00135,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin,superfamily_YWTD domain - no_errors 62 1 1.59 46 45 48.91 2 0 0.00 FLT3 0 genome.wustl.edu 36 13 27490642 27490642 + Missense_Mutation SNP C C A rs121913488 TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 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 87 5 5.43 94 57 37.50 300 252 45.57 SPTB 0 genome.wustl.edu 36 14 64307466 64307466 + Silent SNP C C A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 14 64307466 64307466 C A SNP SPTB NM_001024858.4 human genbank 54_36p -1 validated silent c.5688 p.R1896 1.000 HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_PH,HMMSmart_PH,HMMPfam_Spectrin,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin,superfamily_SSF50729 - no_errors 26 0 0.00 95 54 36.24 0 1 100.00 LOC90586 0 genome.wustl.edu 36 17 38274388 38274388 + RNA SNP G G A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 17 38274388 38274388 G A SNP LOC90586 NR_002773.1 human genbank 54_36p +1 provisional rna NULL NULL 0.961 - - - pseudogene 36 1 2.70 44 28 37.84 NA NA NA ANKRD12 0 genome.wustl.edu 36 18 9246666 9246666 + Missense_Mutation SNP A A G TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 18 9246666 9246666 A G SNP ANKRD12 NM_015208.1 human genbank 54_36p +1 validated missense c.3401 p.K1134R 0.977 superfamily_Ankyrin repeat HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat - no_errors 69 3 4.11 143 131 47.64 16 10 38.46 CECR2 0 genome.wustl.edu 36 22 16370917 16370917 + Missense_Mutation SNP G G A TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 22 16370917 16370917 G A SNP CECR2 ENST00000400585 human ensembl 54_36p +1 known missense c.877 p.V293I 0.987 NULL HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors 161 7 4.09 113 92 44.66 NA NA NA NPM1 0 genome.wustl.edu 36 5 170770152 170770153 + Frame_Shift_Ins INS - - CGCG TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 - - - CGCG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 5 170770152 170770153 - CGCG 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 CEBPA 0 genome.wustl.edu 36 19 38484304 38484305 + Frame_Shift_Ins INS - - G TCGA-AB-2900-03A-01W-0733-08 TCGA-AB-2900-11A-01W-0732-08 - - - G - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq 70e697ae-f265-4598-b261-92c92622bf2d e553d484-56f9-4c88-b500-f4e4e295b394 19 38484304 38484305 - G INS CEBPA NM_004364.3 human genbank 54_36p -1 reviewed frame_shift_ins c.857_856 p.R286fs 1.000:1.000 HMMSmart_BRLZ,HMMPfam_bZIP_2 HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2 - no_errors 9 0 0.00 31 15 32.61 44 21 32.31