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 AAAS 0 genome.wustl.edu 37 12 53714438 53714438 + Silent SNP G G A TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 12 53714438 53714438 G A SNP AAAS ENST00000209873 human ensembl 69_37n -1 known silent c.162 p.P54 0.915 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 143 0 0.00 112 65 36.72 - - - ADCY7 0 genome.wustl.edu 37 16 50334752 50334753 + Frame_Shift_Del DEL GG GG - TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 16 50334752 50334753 GG - DEL ADCY7 ENST00000254235 human ensembl 69_37n +1 known frame_shift_del c.1203_1204 p.A402fs 0.999:1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 109 0 0.00 62 46 42.59 - - - C9orf43 0 genome.wustl.edu 37 9 116186580 116186580 + Missense_Mutation SNP A A G TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 9 116186580 116186580 A G SNP C9orf43 ENST00000288462 human ensembl 69_37n +1 known missense c.791 p.H264R 0.870 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 199 0 0.00 152 75 32.89 - - - CADM2 0 genome.wustl.edu 37 3 85008572 85008572 + RNA SNP G G T TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 3 85008572 85008572 G T SNP CADM2 ENST00000473523 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors CADM2 HGNC ENSG00000175161 61 0 0.00 27 12 30.00 - - - CCDC94 0 genome.wustl.edu 37 19 4247167 4247167 + Frame_Shift_Del DEL C C - TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 19 4247167 4247167 C - DEL CCDC94 ENST00000262962 human ensembl 69_37n +1 known frame_shift_del c.24 p.N8fs 1.000 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC ENSG00000105248 148 0 0.00 218 121 35.17 - - - FAM73B 0 genome.wustl.edu 37 9 131812165 131812166 + Frame_Shift_Ins INS - - G TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 9 131812165 131812166 - G INS FAM73B ENST00000358369 human ensembl 69_37n +1 known frame_shift_ins c.598_599 p.D202fs 0.991:0.981 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 34 0 0.00 17 2 10.53 - - - GNL2 0 genome.wustl.edu 37 1 38034775 38034775 + Missense_Mutation SNP G G C TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 1 38034775 38034775 G C SNP GNL2 ENST00000373062 human ensembl 69_37n -1 known missense c.1545 p.H515Q 0.000 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 169 0 0.00 113 48 29.81 - - - HCN1 0 genome.wustl.edu 37 5 45396610 45396610 + Missense_Mutation SNP C C T TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 5 45396610 45396610 C T SNP HCN1 ENST00000303230 human ensembl 69_37n -1 known missense c.1214 p.R405Q 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 102 0 0.00 89 44 33.08 - - - KCNT2 0 genome.wustl.edu 37 1 196300389 196300389 + Missense_Mutation SNP T T C TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 1 196300389 196300389 T C SNP KCNT2 ENST00000294725 human ensembl 69_37n -1 known missense c.2000 p.Y667C 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC ENSG00000162687 134 0 0.00 97 227 70.06 - - - KIAA1704 0 genome.wustl.edu 37 13 45580344 45580344 + Missense_Mutation SNP A A G TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 13 45580344 45580344 A G SNP KIAA1704 ENST00000361121 human ensembl 69_37n +1 known missense c.229 p.R77G 0.982 NULL pfam_DUF3752 - no_errors KIAA1704 HGNC ENSG00000133114 83 0 0.00 87 47 35.07 - - - LCTL 0 genome.wustl.edu 37 15 66853388 66853388 + Missense_Mutation SNP G G C TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 15 66853388 66853388 G C SNP LCTL ENST00000341509 human ensembl 69_37n -1 known missense c.661 p.L221V 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 117 0 0.00 44 31 41.33 - - - MAPKAPK3 0 genome.wustl.edu 37 3 50655079 50655080 + Frame_Shift_Ins INS - - G TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 3 50655079 50655080 - G INS MAPKAPK3 ENST00000357955 human ensembl 69_37n +1 known frame_shift_ins c.83_84 p.R31fs 0.000:0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 42 0 0.00 36 4 10.00 - - - MRPL2 0 genome.wustl.edu 37 6 43022206 43022206 + Missense_Mutation SNP C C A TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 6 43022206 43022206 C A SNP MRPL2 ENST00000388752 human ensembl 69_37n -1 known missense c.724 p.A242S 1.000 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like - no_errors MRPL2 HGNC ENSG00000112651 44 0 0.00 33 29 46.77 - - - MUC4 0 genome.wustl.edu 37 3 195508115 195508115 + Missense_Mutation SNP T T G TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 3 195508115 195508115 T G SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.10336 p.T3446P 0.077 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 12 0 0.00 16 5 22.73 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 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 92 0 0.00 111 46 29.30 - - - RYR2 0 genome.wustl.edu 37 1 237955580 237955580 + Missense_Mutation SNP C C T TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 1 237955580 237955580 C T SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.13757 p.T4586M 1.000 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 80 0 0.00 99 25 20.16 - - - SHANK2 0 genome.wustl.edu 37 11 70332515 70332515 + Missense_Mutation SNP T T C TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 11 70332515 70332515 T C SNP SHANK2 ENST00000338508 human ensembl 69_37n -1 known missense c.3886 p.K1296E 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 51 0 0.00 301 38 11.21 - - - SORCS1 0 genome.wustl.edu 37 10 108337210 108337210 + Missense_Mutation SNP G G A TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 10 108337210 108337210 G A SNP SORCS1 ENST00000263054 human ensembl 69_37n -1 known missense c.3475 p.R1159W 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 222 0 0.00 176 79 30.86 - - - TRIM64B 0 genome.wustl.edu 37 11 89609144 89609144 + Missense_Mutation SNP A A C TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 11 89609144 89609144 A C SNP TRIM64B ENST00000329862 human ensembl 69_37n -1 known missense c.42 p.I14M 0.100 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM64B HGNC ENSG00000189253 104 0 0.00 92 32 25.81 - - - UBR5 0 genome.wustl.edu 37 8 103298799 103298799 + Silent SNP C C A TCGA-BH-A0BD-01A-11W-A050-09 TCGA-BH-A0BD-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eba2178f-6235-49c1-a49e-98de8ffdc6a0 0558481f-51c7-4181-9032-e02c3e8e265d 8 103298799 103298799 C A SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known silent c.5004 p.S1668 0.976 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 220 2 0.90 169 130 43.33 - - -