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 ALLC 0 genome.wustl.edu 37 2 3729305 3729305 + Splice_Site SNP T T C TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 2 3729305 3729305 T C SNP ALLC ENST00000252505 human ensembl 69_37n +1 known splice_site c.378+2 e5+2 0.953 - - - no_errors ALLC HGNC ENSG00000151360 134 0 0.00 73 14 16.09 - - - ANKRD2 0 genome.wustl.edu 37 10 99337563 99337563 + Nonsense_Mutation SNP C C T TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 10 99337563 99337563 C T SNP ANKRD2 ENST00000307518 human ensembl 69_37n +1 known nonsense c.175 p.R59* 0.160 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD2 HGNC ENSG00000165887 27 0 0.00 24 7 22.58 - - - ATPBD4 0 genome.wustl.edu 37 15 35814394 35814394 + Missense_Mutation SNP G G A TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 15 35814394 35814394 G A SNP ATPBD4 ENST00000440392 human ensembl 69_37n -1 known missense c.398 p.A133V 1.000 NULL pfam_DUF71_ATP-bd_dom - no_errors ATPBD4 HGNC ENSG00000134146 163 0 0.00 48 16 25.00 - - - CD164 0 genome.wustl.edu 37 6 109703447 109703448 + In_Frame_Ins INS - - GCCGAG TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 6 109703447 109703448 - GCCGAG INS CD164 ENST00000310786 human ensembl 69_37n -1 known in_frame_ins c.135_134 p.46in_frame_insSA 0.002:0.000 pfam_CD164_MGC24 pfam_CD164_MGC24,prints_CD164_MGC24 - no_errors CD164 HGNC ENSG00000135535 56 0 0.00 24 3 11.11 - - - CEP128 0 genome.wustl.edu 37 14 81223281 81223282 + Frame_Shift_Ins INS - - C TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 14 81223281 81223282 - C INS CEP128 ENST00000281129 human ensembl 69_37n -1 known frame_shift_ins c.2568_2567 p.P857fs 0.512:0.495 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 152 0 0.00 98 23 19.01 - - - COL7A1 0 genome.wustl.edu 37 3 48629346 48629346 + Missense_Mutation SNP A A G TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 3 48629346 48629346 A G SNP COL7A1 ENST00000328333 human ensembl 69_37n -1 known missense c.1342 p.W448R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 92 0 0.00 56 16 22.22 - - - CXorf65 0 genome.wustl.edu 37 X 70324242 70324242 + Missense_Mutation SNP A A G TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f X 70324242 70324242 A G SNP CXorf65 ENST00000374251 human ensembl 69_37n -1 known missense c.332 p.I111T 0.731 NULL NULL - no_errors CXorf65 HGNC ENSG00000204165 81 0 0.00 141 37 20.79 - - - DIO2 0 genome.wustl.edu 37 14 80672615 80672619 + Frame_Shift_Del DEL TATAA TATAA - TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 TATAA TATAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 14 80672615 80672619 TATAA - DEL DIO2 ENST00000555750 human ensembl 69_37n -1 known frame_shift_del c.289_285 p.Y96fs 0.034:0.001:0.001:0.000:0.001 NULL pfam_Iodothyronine_deiodinase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold - pseudogene DIO2 HGNC ENSG00000211448 234 0 0.00 160 43 20.67 - - - FMN2 0 genome.wustl.edu 37 1 240492411 240492411 + Missense_Mutation SNP G G C TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 1 240492411 240492411 G C SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.4251 p.K1417N 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 130 0 0.00 141 25 14.97 - - - GBP6 0 genome.wustl.edu 37 1 89844123 89844123 + Missense_Mutation SNP C C A TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 1 89844123 89844123 C A SNP GBP6 ENST00000370456 human ensembl 69_37n +1 known missense c.576 p.H192Q 0.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP6 HGNC ENSG00000183347 188 0 0.00 105 38 26.39 - - - GOLGA6L1 0 genome.wustl.edu 37 15 22743097 22743097 + Missense_Mutation SNP G G C TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 15 22743097 22743097 G C SNP GOLGA6L1 ENST00000316397 human ensembl 69_37n +1 known missense c.1482 p.E494D 0.098 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L1 HGNC ENSG00000197414 369 0 0.00 46 15 24.19 - - - HLA-B 0 genome.wustl.edu 37 6 31322932 31322933 + Frame_Shift_Ins INS - - AG TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 6 31322932 31322933 - AG INS HLA-B ENST00000412585 human ensembl 69_37n -1 known frame_shift_ins c.964_963 p.V321fs 0.000:0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 40 0 0.00 38 5 11.63 - - - HLA-B 0 genome.wustl.edu 37 6 31322933 31322934 + Frame_Shift_Ins INS - - T TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 6 31322933 31322934 - T INS HLA-B ENST00000412585 human ensembl 69_37n -1 known frame_shift_ins c.963_962 p.V322fs 0.000:0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-B HGNC ENSG00000234745 41 0 0.00 39 5 11.36 - - - IARS2 0 genome.wustl.edu 37 1 220269535 220269535 + Silent SNP C C T TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 1 220269535 220269535 C T SNP IARS2 ENST00000302637 human ensembl 69_37n +1 known silent c.357 p.N119 0.999 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS2 HGNC ENSG00000067704 233 0 0.00 134 26 16.15 - - - LRRK1 0 genome.wustl.edu 37 15 101565085 101565085 + Silent SNP G G A TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 15 101565085 101565085 G A SNP LRRK1 ENST00000388948 human ensembl 69_37n +1 known silent c.2145 p.T715 0.018 pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 67 0 0.00 26 8 22.86 - - - MUC12 0 genome.wustl.edu 37 7 100645121 100645121 + Silent SNP T T C TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 7 100645121 100645121 T C SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known silent c.11706 p.S3902 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 28 0 0.00 15 4 21.05 - - - NEK1 0 genome.wustl.edu 37 4 170506525 170506525 + Missense_Mutation SNP C C A TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 4 170506525 170506525 C A SNP NEK1 ENST00000507142 human ensembl 69_37n -1 known missense c.782 p.R261L 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 179 0 0.00 74 12 13.95 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 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 125 0 0.00 107 20 15.75 - - - PIK3CA 0 genome.wustl.edu 37 3 178952074 178952074 + Missense_Mutation SNP G G A TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 3 178952074 178952074 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3129 p.M1043I 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 134 0 0.00 41 12 21.82 - - - PTPN23 0 genome.wustl.edu 37 3 47451454 47451454 + Silent SNP C C T TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 3 47451454 47451454 C T SNP PTPN23 ENST00000265562 human ensembl 69_37n +1 known silent c.2166 p.A722 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 28 0 0.00 26 8 23.53 - - - RBM15 0 genome.wustl.edu 37 1 110883275 110883281 + Frame_Shift_Del DEL CGGCTTT CGGCTTT - TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 CGGCTTT CGGCTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 1 110883275 110883281 CGGCTTT - DEL RBM15 ENST00000369784 human ensembl 69_37n +1 known frame_shift_del c.1248_1254 p.G417fs 1.000:1.000:1.000:0.753:1.000:1.000:0.998 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC ENSG00000162775 78 0 0.00 38 7 14.89 - - - VPS4B 0 genome.wustl.edu 37 18 61071018 61071018 + Missense_Mutation SNP C C T TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 18 61071018 61071018 C T SNP VPS4B ENST00000238497 human ensembl 69_37n -1 known missense c.406 p.V136I 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 174 0 0.00 92 17 15.45 - - - ZNF548 0 genome.wustl.edu 37 19 57910903 57910903 + Silent SNP G G A TCGA-A2-A0T7-01A-21D-A099-09 TCGA-A2-A0T7-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3ea4d98d-f8d9-433e-94f1-b0199bfdb198 605ddfcb-4ee9-4dd3-bc87-4460cb63662f 19 57910903 57910903 G A SNP ZNF548 ENST00000336128 human ensembl 69_37n +1 known silent c.1284 p.T428 0.893 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 82 0 0.00 48 16 25.00 - - -