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 ASTN1 0 genome.wustl.edu 37 1 176998868 176998868 + Missense_Mutation SNP G G T TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 1 176998868 176998868 G T SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known missense c.1022 p.A341D 1.000 NULL superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 71 0 0.00 68 18 20.93 - - - B3GNT9 0 genome.wustl.edu 37 16 67183812 67183812 + Missense_Mutation SNP G G T TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 16 67183812 67183812 G T SNP B3GNT9 ENST00000449549 human ensembl 69_37n -1 known missense c.577 p.L193M 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 23 0 0.00 19 4 17.39 - - - C15orf52 0 genome.wustl.edu 37 15 40632158 40632158 + Missense_Mutation SNP C C T TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 15 40632158 40632158 C T SNP C15orf52 ENST00000559313 human ensembl 69_37n -1 known missense c.203 p.R68Q 1.000 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 102 0 0.00 63 12 16.00 - - - COL6A5 0 genome.wustl.edu 37 3 130116570 130116570 + Missense_Mutation SNP G G T TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 3 130116570 130116570 G T SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known missense c.3712 p.A1238S 0.996 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 81 0 0.00 58 25 30.12 - - - CROCCP2 0 genome.wustl.edu 37 1 16950807 16950807 + RNA SNP C C T TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 1 16950807 16950807 C T SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.483 - - - no_errors CROCCP2 HGNC ENSG00000215908 40 0 0.00 58 10 14.71 - - - DSC1 0 genome.wustl.edu 37 18 28721981 28721981 + Missense_Mutation SNP C C T TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 18 28721981 28721981 C T SNP DSC1 ENST00000257198 human ensembl 69_37n -1 known missense c.1241 p.G414E 0.420 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmocollin,prints_Cadherin,prints_Desmo_cadherin - no_errors DSC1 HGNC ENSG00000134765 164 0 0.00 159 19 10.67 - - - ERLEC1 0 genome.wustl.edu 37 2 54040191 54040191 + Missense_Mutation SNP G G A TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 2 54040191 54040191 G A SNP ERLEC1 ENST00000185150 human ensembl 69_37n +1 known missense c.1207 p.D403N 1.000 pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 48 0 0.00 47 10 17.24 - - - FBXL3 0 genome.wustl.edu 37 13 77595879 77595879 + Silent SNP G G A TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 13 77595879 77595879 G A SNP FBXL3 ENST00000355619 human ensembl 69_37n -1 known silent c.117 p.L39 0.974 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like - no_errors FBXL3 HGNC ENSG00000005812 97 0 0.00 85 19 18.27 - - - FRMPD1 0 genome.wustl.edu 37 9 37732388 37732388 + Missense_Mutation SNP C C T TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 9 37732388 37732388 C T SNP FRMPD1 ENST00000377765 human ensembl 69_37n +1 known missense c.946 p.R316W 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 97 0 0.00 52 15 22.39 - - - ITGB5 0 genome.wustl.edu 37 3 124567275 124567275 + Silent SNP G G A TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 3 124567275 124567275 G A SNP ITGB5 ENST00000296181 human ensembl 69_37n -1 known silent c.492 p.L164 0.796 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 98 0 0.00 78 17 17.89 - - - IVD 0 genome.wustl.edu 37 15 40702971 40702971 + Frame_Shift_Del DEL C C - TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 15 40702971 40702971 C - DEL IVD ENST00000487418 human ensembl 69_37n +1 known frame_shift_del c.440 p.Q148fs 0.998 pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors IVD HGNC ENSG00000128928 66 0 0.00 36 7 16.28 - - - KIAA1614 0 genome.wustl.edu 37 1 180885810 180885810 + Missense_Mutation SNP G G A TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 1 180885810 180885810 G A SNP KIAA1614 ENST00000367588 human ensembl 69_37n +1 known missense c.571 p.E191K 0.027 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 26 0 0.00 35 6 14.63 - - - KIF13B 0 genome.wustl.edu 37 8 29043966 29043966 + Missense_Mutation SNP T T C TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 8 29043966 29043966 T C SNP KIF13B ENST00000524189 human ensembl 69_37n -1 known missense c.340 p.M114V 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom 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 72 0 0.00 73 14 16.09 - - - MAGEC2 0 genome.wustl.edu 37 X 141290731 141290731 + Missense_Mutation SNP A A G TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 X 141290731 141290731 A G SNP MAGEC2 ENST00000247452 human ensembl 69_37n -1 known missense c.1043 p.I348T 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 113 0 0.00 78 32 29.09 - - - MARK2 0 genome.wustl.edu 37 11 63670121 63670122 + Frame_Shift_Del DEL AG AG - TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 11 63670121 63670122 AG - DEL MARK2 ENST00000402010 human ensembl 69_37n +1 known frame_shift_del c.1283_1284 p.S429fs 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 34 0 0.00 31 6 16.22 - - - NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 69_37n -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 10 0 0.00 4 2 33.33 - - - PADI6 0 genome.wustl.edu 37 1 17699575 17699575 + RNA SNP C C T TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 1 17699575 17699575 C T SNP PADI6 ENST00000358481 human ensembl 69_37n +1 known rna NULL NULL 0.120 - - - no_errors PADI6 HGNC ENSG00000256049 74 0 0.00 87 17 16.35 - - - PARK2 0 genome.wustl.edu 37 6 161969946 161969946 + Silent SNP C C A TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 6 161969946 161969946 C A SNP PARK2 ENST00000366898 human ensembl 69_37n -1 known silent c.1023 p.L341 1.000 pfam_Znf_C6HC,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup - no_errors PARK2 HGNC ENSG00000185345 37 0 0.00 27 10 27.03 - - - PCDHAC2 0 genome.wustl.edu 37 5 140347381 140347381 + Missense_Mutation SNP C C T TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 5 140347381 140347381 C T SNP PCDHAC2 ENST00000289269 human ensembl 69_37n +1 known missense c.1030 p.P344S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 50 0 0.00 35 6 14.63 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_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 81 0 0.00 56 23 29.11 - - - RRBP1 0 genome.wustl.edu 37 20 17639786 17639786 + Missense_Mutation SNP T T G TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 20 17639786 17639786 T G SNP RRBP1 ENST00000246043 human ensembl 69_37n -1 known missense c.1367 p.Q456P 0.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 8 0 0.00 13 4 23.53 - - - TNRC18 0 genome.wustl.edu 37 7 5417112 5417112 + Missense_Mutation SNP G G A TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 7 5417112 5417112 G A SNP TNRC18 ENST00000399537 human ensembl 69_37n -1 known missense c.2351 p.A784V 0.612 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 28 0 0.00 23 5 17.24 - - - UBAP1 0 genome.wustl.edu 37 9 34241537 34241537 + Missense_Mutation SNP A A C TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4688c20c-f73d-4203-a123-acc833628062 feca40a1-64e9-488f-8c06-809bf7058b96 9 34241537 34241537 A C SNP UBAP1 ENST00000545103 human ensembl 69_37n +1 known missense c.706 p.K236Q 1.000 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 92 0 0.00 93 15 13.89 - - -