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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ACE 0 genome.wustl.edu 37 17 61562349 61562349 + Missense_Mutation SNP A A G TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 17 61562349 61562349 A G SNP ACE ENST00000490216 human ensembl 69_37n +1 known missense c.121 p.T41A 0.000 NULL pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 61 0 0.00 94 14 12.84 - - - CCDC80 0 genome.wustl.edu 37 3 112358410 112358410 + Missense_Mutation SNP G G A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 3 112358410 112358410 G A SNP CCDC80 ENST00000206423 human ensembl 69_37n -1 known missense c.343 p.R115C 0.003 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 42 0 0.00 42 6 12.50 - - - CEP250 0 genome.wustl.edu 37 20 34057761 34057761 + Nonsense_Mutation SNP G G T TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 20 34057761 34057761 G T SNP CEP250 ENST00000397527 human ensembl 69_37n +1 known nonsense c.898 p.E300* 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 34 0 0.00 63 10 13.51 - - - CHD4 0 genome.wustl.edu 37 12 6697097 6697097 + Missense_Mutation SNP G G A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 12 6697097 6697097 G A SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.3484 p.R1162W 1.000 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,smart_Helicase_C,pfscan_Helicase_C pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 46 0 0.00 53 11 17.19 - - - CLCA1 0 genome.wustl.edu 37 1 86942163 86942163 + Nonsense_Mutation SNP C C T TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 1 86942163 86942163 C T SNP CLCA1 ENST00000234701 human ensembl 69_37n +1 known nonsense c.484 p.R162* 0.664 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 92 0 0.00 108 22 16.92 - - - CNTNAP2 0 genome.wustl.edu 37 7 146536957 146536957 + Silent SNP G G T TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 7 146536957 146536957 G T SNP CNTNAP2 ENST00000361727 human ensembl 69_37n +1 known silent c.363 p.G121 0.950 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 39 0 0.00 70 9 11.39 - - - CSRNP3 0 genome.wustl.edu 37 2 166535936 166535936 + Missense_Mutation SNP C C A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 2 166535936 166535936 C A SNP CSRNP3 ENST00000314499 human ensembl 69_37n +1 known missense c.1431 p.F477L 0.620 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 33 0 0.00 41 7 14.58 - - - EFCAB5 0 genome.wustl.edu 37 17 28417634 28417634 + Silent SNP G G A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 17 28417634 28417634 G A SNP EFCAB5 ENST00000394835 human ensembl 69_37n +1 known silent c.3879 p.V1293 0.353 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC ENSG00000176927 62 0 0.00 98 20 16.95 - - - HEPH 0 genome.wustl.edu 37 X 65420445 65420445 + Missense_Mutation SNP C C T TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf X 65420445 65420445 C T SNP HEPH ENST00000519389 human ensembl 69_37n +1 known missense c.2090 p.A697V 0.998 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 92 0 0.00 201 52 20.55 - - - KIAA0182 0 genome.wustl.edu 37 16 85701854 85701854 + Missense_Mutation SNP A A G TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 16 85701854 85701854 A G SNP KIAA0182 ENST00000253458 human ensembl 69_37n +1 known missense c.3239 p.N1080S 0.993 NULL pfam_DUF3736 - no_errors KIAA0182 HGNC ENSG00000131149 71 0 0.00 82 21 20.39 - - - KIF13B 0 genome.wustl.edu 37 8 28989832 28989832 + Missense_Mutation SNP G G A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 8 28989832 28989832 G A SNP KIF13B ENST00000524189 human ensembl 69_37n -1 known missense c.2935 p.R979W 0.998 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 62 0 0.00 83 12 12.63 - - - KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 12 25398284 25398284 C A SNP KRAS ENST00000256078 human ensembl 69_37n -1 known missense c.35 p.G12V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 76 0 0.00 139 24 14.72 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 96 0 0.00 88 16 15.38 - - - RNA5SP284 0 genome.wustl.edu 37 9 68409027 68409028 + RNA INS - - A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 9 68409027 68409028 - A INS RNA5SP284 ENST00000384547 human ensembl 69_37n +1 known rna NULL NULL 0.105:0.101 - - - no_errors RNA5SP284 HGNC ENSG00000207277 11 0 0.00 4 3 42.86 - - - RNA5SP284 0 genome.wustl.edu 37 9 68409033 68409033 + RNA DEL C C - TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 9 68409033 68409033 C - DEL RNA5SP284 ENST00000384547 human ensembl 69_37n +1 known rna NULL NULL 0.066 - - - no_errors RNA5SP284 HGNC ENSG00000207277 10 0 0.00 3 3 50.00 - - - SETD1B 0 genome.wustl.edu 37 12 122242717 122242717 + Missense_Mutation SNP G G A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 12 122242717 122242717 G A SNP SETD1B ENST00000267197 human ensembl 69_37n +1 known missense c.74 p.R25K 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 40 0 0.00 22 8 26.67 - - - SLC19A1 0 genome.wustl.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 21 46951916 46951918 CAG - DEL SLC19A1 ENST00000311124 human ensembl 69_37n -1 known in_frame_del c.336_334 p.L112in_frame_del 0.002:0.005:0.002 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 10 0 0.00 6 3 33.33 - - - SLC44A3 0 genome.wustl.edu 37 1 95311008 95311008 + Silent SNP C C T TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 1 95311008 95311008 C T SNP SLC44A3 ENST00000271227 human ensembl 69_37n +1 known silent c.1060 p.L354 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 59 0 0.00 98 24 19.51 - - - SPTA1 0 genome.wustl.edu 37 1 158584095 158584095 + Missense_Mutation SNP C C A TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 1 158584095 158584095 C A SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.6790 p.D2264Y 0.995 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 43 0 0.00 46 9 16.36 - - - USP24 0 genome.wustl.edu 37 1 55637338 55637338 + Missense_Mutation SNP T T C TCGA-E9-A1NG-01A-21D-A14K-09 TCGA-E9-A1NG-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1cbf389d-1ec8-4543-880f-4ef64c55a44b 238a0594-90ba-45e5-9936-7a24e49f65cf 1 55637338 55637338 T C SNP USP24 ENST00000294383 human ensembl 69_37n -1 known missense c.716 p.D239G 1.000 NULL pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC ENSG00000162402 47 0 0.00 61 11 15.28 - - -