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 ALOX12 0 genome.wustl.edu 37 17 6900318 6900318 + Missense_Mutation SNP G G C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 17 6900318 6900318 G C SNP ALOX12 ENST00000251535 human ensembl 69_37n +1 known missense c.309 p.E103D 0.010 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2 - no_errors ALOX12 HGNC ENSG00000108839 16 0 0.00 17 7 28.00 - - - AUTS2 0 genome.wustl.edu 37 7 70252221 70252221 + Missense_Mutation SNP G G T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 7 70252221 70252221 G T SNP AUTS2 ENST00000342771 human ensembl 69_37n +1 known missense c.2335 p.D779Y 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 59 0 0.00 30 20 39.22 - - - AUTS2 0 genome.wustl.edu 37 7 70252221 70252221 + Missense_Mutation SNP G G T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 7 70252221 70252221 G T SNP AUTS2 ENST00000342771 human ensembl 69_37n +1 known missense c.2335 p.D779Y 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 62 0 0.00 30 20 39.22 - - - CBX2 0 genome.wustl.edu 37 17 77758181 77758181 + Silent SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 17 77758181 77758181 C T SNP CBX2 ENST00000310942 human ensembl 69_37n +1 known silent c.939 p.S313 0.013 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX2 HGNC ENSG00000173894 40 0 0.00 13 14 51.85 - - - CBX8 0 genome.wustl.edu 37 17 77768660 77768660 + Missense_Mutation SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 17 77768660 77768660 C T SNP CBX8 ENST00000269385 human ensembl 69_37n -1 known missense c.944 p.S315N 0.060 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 27 0 0.00 13 14 51.85 - - - CBX8 0 genome.wustl.edu 37 17 77768660 77768660 + Missense_Mutation SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 17 77768660 77768660 C T SNP CBX8 ENST00000269385 human ensembl 69_37n -1 known missense c.944 p.S315N 0.060 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 19 0 0.00 13 14 51.85 - - - CERKL 0 genome.wustl.edu 37 2 182438569 182438569 + Missense_Mutation SNP G G T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 2 182438569 182438569 G T SNP CERKL ENST00000339098 human ensembl 69_37n -1 known missense c.524 p.P175H 1.000 pfam_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom - no_errors CERKL HGNC ENSG00000188452 273 0 0.00 112 67 37.22 - - - CTCF 0 genome.wustl.edu 37 16 67645922 67645922 + Missense_Mutation SNP C C A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 16 67645922 67645922 C A SNP CTCF ENST00000264010 human ensembl 69_37n +1 known missense c.850 p.H284N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 112 0 0.00 28 37 56.92 - - - DNAH9 0 genome.wustl.edu 37 17 11597194 11597194 + Missense_Mutation SNP A A G TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 17 11597194 11597194 A G SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.4624 p.R1542G 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 82 0 0.00 59 21 26.25 - - - DNAH9 0 genome.wustl.edu 37 17 11597194 11597194 + Missense_Mutation SNP A A G TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 17 11597194 11597194 A G SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.4624 p.R1542G 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 137 1 0.72 59 21 26.25 - - - ENSG00000210082 0 genome.wustl.edu 37 MT 2819 2819 + RNA SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe MT 2819 2819 G A SNP ENSG00000210082 ENST00000387347 human ensembl 69_37n +1 known rna NULL NULL NULL - - - no_errors J01415.4 Clone_based_ensembl_gene ENSG00000210082 10 0 0.00 22 71 76.34 - - - ENSG00000210082 0 genome.wustl.edu 37 MT 2819 2819 + RNA SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 MT 2819 2819 G A SNP ENSG00000210082 ENST00000387347 human ensembl 69_37n +1 known rna NULL NULL NULL - - - no_errors J01415.4 Clone_based_ensembl_gene ENSG00000210082 18 0 0.00 22 71 76.34 - - - ENSG00000246477 0 genome.wustl.edu 37 8 11177526 11177526 + RNA DEL T T - TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 8 11177526 11177526 T - DEL ENSG00000246477 ENST00000498997 human ensembl 69_37n -1 known rna NULL NULL 0.005 - - - no_errors AF131216.6 Clone_based_vega_gene ENSG00000246477 23 0 0.00 26 4 13.33 - - - FAM86B2 0 genome.wustl.edu 37 8 12285132 12285132 + Missense_Mutation SNP C C G TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 8 12285132 12285132 C G SNP FAM86B2 ENST00000393715 human ensembl 69_37n -1 known missense c.242 p.C81S 0.001 NULL NULL - no_errors FAM86B2 HGNC ENSG00000145002 15 0 0.00 17 5 22.73 - - - FAT4 0 genome.wustl.edu 37 4 126239428 126239428 + Missense_Mutation SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 4 126239428 126239428 C T SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known missense c.1862 p.S621F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 59 0 0.00 49 23 31.94 - - - FRG1B 0 genome.wustl.edu 37 20 29632643 29632643 + Missense_Mutation SNP T T C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 20 29632643 29632643 T C SNP FRG1B ENST00000278882 human ensembl 69_37n +1 known missense c.458 p.L153P 1.000 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 24 0 0.00 67 10 12.99 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685144 23685144 + Silent SNP T T C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 15 23685144 23685144 T C SNP GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative silent c.2478 p.G826 0.003 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 9 0 0.00 6 6 50.00 - - - GPR50 0 genome.wustl.edu 37 X 150349192 150349192 + Silent SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe X 150349192 150349192 C T SNP GPR50 ENST00000218316 human ensembl 69_37n +1 known silent c.1137 p.P379 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mel_rcpt_1X,prints_7TM_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 114 0 0.00 90 47 34.31 - - - GPR50 0 genome.wustl.edu 37 X 150349192 150349192 + Silent SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 X 150349192 150349192 C T SNP GPR50 ENST00000218316 human ensembl 69_37n +1 known silent c.1137 p.P379 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mel_rcpt_1X,prints_7TM_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 156 0 0.00 90 47 34.31 - - - HECW1 0 genome.wustl.edu 37 7 43548644 43548645 + Frame_Shift_Del DEL TT TT - TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 7 43548644 43548645 TT - DEL HECW1 ENST00000395891 human ensembl 69_37n +1 known frame_shift_del c.3943_3944 p.F1315fs 1.000:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 157 0 0.00 101 47 31.76 - - - HMCN1 0 genome.wustl.edu 37 1 186072719 186072719 + Missense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 1 186072719 186072719 G A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.10689 p.M3563I 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 118 0 0.00 56 29 34.12 - - - HMCN1 0 genome.wustl.edu 37 1 186072719 186072719 + Missense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 1 186072719 186072719 G A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.10689 p.M3563I 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 104 1 0.95 56 29 34.12 - - - IGDCC3 0 genome.wustl.edu 37 15 65621396 65621396 + Missense_Mutation SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 15 65621396 65621396 C T SNP IGDCC3 ENST00000327987 human ensembl 69_37n -1 known missense c.2296 p.E766K 0.002 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC3 HGNC ENSG00000174498 30 0 0.00 13 11 45.83 - - - LASP1 0 genome.wustl.edu 37 17 37074895 37074895 + Missense_Mutation SNP A A C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 17 37074895 37074895 A C SNP LASP1 ENST00000318008 human ensembl 69_37n +1 known missense c.650 p.D217A 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors LASP1 HGNC ENSG00000002834 30 0 0.00 34 18 33.96 - - - LETM1 0 genome.wustl.edu 37 4 1838164 1838164 + Missense_Mutation SNP A A T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 4 1838164 1838164 A T SNP LETM1 ENST00000302787 human ensembl 69_37n -1 known missense c.730 p.S244T 1.000 pfam_LETM1 pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 102 0 0.00 78 31 28.44 - - - LETM1 0 genome.wustl.edu 37 4 1838164 1838164 + Missense_Mutation SNP A A T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 4 1838164 1838164 A T SNP LETM1 ENST00000302787 human ensembl 69_37n -1 known missense c.730 p.S244T 1.000 pfam_LETM1 pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 98 0 0.00 78 31 28.44 - - - LPA 0 genome.wustl.edu 37 6 161015051 161015051 + Nonsense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 6 161015051 161015051 G A SNP LPA ENST00000316300 human ensembl 69_37n -1 known nonsense c.3568 p.Q1190* 0.402 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 240 0 0.00 71 55 43.65 - - - LPA 0 genome.wustl.edu 37 6 161015051 161015051 + Nonsense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 6 161015051 161015051 G A SNP LPA ENST00000316300 human ensembl 69_37n -1 known nonsense c.3568 p.Q1190* 0.402 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors LPA HGNC ENSG00000198670 258 0 0.00 71 55 43.65 - - - MAGEC1 0 genome.wustl.edu 37 X 140995480 140995480 + Missense_Mutation SNP C C G TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe X 140995480 140995480 C G SNP MAGEC1 ENST00000285879 human ensembl 69_37n +1 known missense c.2290 p.Q764E 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 115 0 0.00 76 30 28.30 - - - MAGEC1 0 genome.wustl.edu 37 X 140995480 140995480 + Missense_Mutation SNP C C G TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 X 140995480 140995480 C G SNP MAGEC1 ENST00000285879 human ensembl 69_37n +1 known missense c.2290 p.Q764E 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 99 0 0.00 76 30 28.30 - - - MELK 0 genome.wustl.edu 37 9 36651752 36651752 + Missense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 9 36651752 36651752 G A SNP MELK ENST00000298048 human ensembl 69_37n +1 known missense c.931 p.D311N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,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 MELK HGNC ENSG00000165304 160 0 0.00 99 54 35.29 - - - MPC2 0 genome.wustl.edu 37 1 167889845 167889845 + Missense_Mutation SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 1 167889845 167889845 C T SNP MPC2 ENST00000271373 human ensembl 69_37n -1 known missense c.175 p.D59N 1.000 pfam_UPF0041 pfam_UPF0041 - no_errors MPC2 HGNC ENSG00000143158 112 0 0.00 44 33 42.86 - - - MUC12 0 genome.wustl.edu 37 7 100646235 100646235 + Missense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 7 100646235 100646235 G A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.12820 p.E4274K 0.013 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 39 0 0.00 98 15 13.27 - - - MUC12 0 genome.wustl.edu 37 7 100661916 100661916 + Silent SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 7 100661916 100661916 G A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known silent c.16436 p.*5479 0.002 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 41 0 0.00 42 9 17.65 - - - MUC12 0 genome.wustl.edu 37 7 100661916 100661916 + Silent SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 7 100661916 100661916 G A SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known silent c.16436 p.*5479 0.002 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 79 0 0.00 42 9 17.65 - - - MUC4 0 genome.wustl.edu 37 3 195506117 195506117 + Missense_Mutation SNP G G T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 3 195506117 195506117 G T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.12334 p.P4112T 0.000 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 17 0 0.00 64 24 27.27 - - - MUC4 0 genome.wustl.edu 37 3 195513168 195513168 + Silent SNP A A T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 3 195513168 195513168 A T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.5283 p.L1761 0.008 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 565 0 0.00 714 104 12.64 - - - MUC4 0 genome.wustl.edu 37 3 195513168 195513168 + Silent SNP A A T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 3 195513168 195513168 A T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.5283 p.L1761 0.008 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 210 2 0.94 714 104 12.64 - - - NEK1 0 genome.wustl.edu 37 4 170476976 170476976 + Frame_Shift_Del DEL C C - TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 4 170476976 170476976 C - DEL NEK1 ENST00000507142 human ensembl 69_37n -1 known frame_shift_del c.1457 p.G486fs 1.000 NULL 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 134 0 0.00 89 35 28.23 - - - ODF2 0 genome.wustl.edu 37 9 131256860 131256860 + Silent SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 9 131256860 131256860 G A SNP ODF2 ENST00000372796 human ensembl 69_37n +1 known silent c.1824 p.A608 0.657 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 64 0 0.00 39 20 33.90 - - - PGAP2 0 genome.wustl.edu 37 11 3819319 3819319 + RNA SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 11 3819319 3819319 C T SNP PGAP2 ENST00000489571 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PGAP2 HGNC ENSG00000148985 33 0 0.00 16 8 33.33 - - - PGAP2 0 genome.wustl.edu 37 11 3819319 3819319 + RNA SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 11 3819319 3819319 C T SNP PGAP2 ENST00000489571 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors PGAP2 HGNC ENSG00000148985 13 0 0.00 16 8 33.33 - - - PLCG1 0 genome.wustl.edu 37 20 39796490 39796490 + Splice_Site SNP A A G TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 20 39796490 39796490 A G SNP PLCG1 ENST00000244007 human ensembl 69_37n +1 known splice_site c.2302-2 e20-2 1.000 - - - no_errors PLCG1 HGNC ENSG00000124181 99 0 0.00 63 38 37.62 - - - PLXNB2 0 genome.wustl.edu 37 22 50720382 50720382 + Missense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 22 50720382 50720382 G A SNP PLXNB2 ENST00000427829 human ensembl 69_37n -1 putative missense c.299 p.S100L 0.270 NULL NULL - no_start_codon:pseudogene:no_stop_codon PLXNB2 HGNC ENSG00000196576 40 0 0.00 17 13 41.94 - - - PTPN4 0 genome.wustl.edu 37 2 120702704 120702704 + Missense_Mutation SNP A A C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 2 120702704 120702704 A C SNP PTPN4 ENST00000263708 human ensembl 69_37n +1 known missense c.1403 p.K468T 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN4 HGNC ENSG00000088179 95 0 0.00 50 37 42.53 - - - PTPN4 0 genome.wustl.edu 37 2 120702704 120702704 + Missense_Mutation SNP A A C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 2 120702704 120702704 A C SNP PTPN4 ENST00000263708 human ensembl 69_37n +1 known missense c.1403 p.K468T 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN4 HGNC ENSG00000088179 101 1 0.98 50 37 42.53 - - - PTPN4 0 genome.wustl.edu 37 2 120702705 120702705 + Missense_Mutation SNP A A C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 2 120702705 120702705 A C SNP PTPN4 ENST00000263708 human ensembl 69_37n +1 known missense c.1404 p.K468N 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN4 HGNC ENSG00000088179 95 0 0.00 50 38 43.18 - - - PTPN4 0 genome.wustl.edu 37 2 120702705 120702705 + Missense_Mutation SNP A A C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 2 120702705 120702705 A C SNP PTPN4 ENST00000263708 human ensembl 69_37n +1 known missense c.1404 p.K468N 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors PTPN4 HGNC ENSG00000088179 104 1 0.95 50 38 43.18 - - - RAD54L 0 genome.wustl.edu 37 1 46738424 46738424 + Missense_Mutation SNP T T C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 1 46738424 46738424 T C SNP RAD54L ENST00000371975 human ensembl 69_37n +1 known missense c.1325 p.M442T 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 189 0 0.00 117 57 32.76 - - - RAD54L 0 genome.wustl.edu 37 1 46738424 46738424 + Missense_Mutation SNP T T C TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 1 46738424 46738424 T C SNP RAD54L ENST00000371975 human ensembl 69_37n +1 known missense c.1325 p.M442T 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 226 1 0.44 117 57 32.76 - - - RASGRP2 0 genome.wustl.edu 37 11 64497587 64497587 + Missense_Mutation SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 11 64497587 64497587 C T SNP RASGRP2 ENST00000377494 human ensembl 69_37n -1 known missense c.1492 p.V498I 1.000 pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 31 0 0.00 15 16 51.61 - - - RASGRP2 0 genome.wustl.edu 37 11 64497587 64497587 + Missense_Mutation SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 11 64497587 64497587 C T SNP RASGRP2 ENST00000377494 human ensembl 69_37n -1 known missense c.1492 p.V498I 1.000 pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 28 0 0.00 15 16 51.61 - - - REV3L 0 genome.wustl.edu 37 6 111697571 111697571 + Missense_Mutation SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 6 111697571 111697571 C T SNP REV3L ENST00000358835 human ensembl 69_37n -1 known missense c.1987 p.E663K 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 97 0 0.00 42 6 12.50 - - - REV3L 0 genome.wustl.edu 37 6 111697571 111697571 + Missense_Mutation SNP C C T TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 6 111697571 111697571 C T SNP REV3L ENST00000358835 human ensembl 69_37n -1 known missense c.1987 p.E663K 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 57 0 0.00 42 6 12.50 - - - SEC24C 0 genome.wustl.edu 37 10 75527697 75527697 + Missense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 10 75527697 75527697 G A SNP SEC24C ENST00000339365 human ensembl 69_37n +1 known missense c.2113 p.D705N 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 125 0 0.00 61 37 37.76 - - - SEC24C 0 genome.wustl.edu 37 10 75527697 75527697 + Missense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 10 75527697 75527697 G A SNP SEC24C ENST00000339365 human ensembl 69_37n +1 known missense c.2113 p.D705N 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 211 2 0.94 61 37 37.76 - - - STAU1 0 genome.wustl.edu 37 20 47736592 47736592 + Missense_Mutation SNP T T G TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 20 47736592 47736592 T G SNP STAU1 ENST00000371856 human ensembl 69_37n -1 known missense c.1040 p.N347T 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU1 HGNC ENSG00000124214 73 0 0.00 54 19 25.68 - - - TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 69_37n +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 37 0 0.00 65 9 12.00 - - - TBCD 0 genome.wustl.edu 37 17 80878479 80878479 + Missense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 17 80878479 80878479 G A SNP TBCD ENST00000355528 human ensembl 69_37n +1 known missense c.2086 p.G696S 0.984 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 234 0 0.00 175 67 27.69 - - - TDRD3 0 genome.wustl.edu 37 13 61083925 61083925 + Frame_Shift_Del DEL C C - TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 13 61083925 61083925 C - DEL TDRD3 ENST00000535286 human ensembl 69_37n +1 known frame_shift_del c.887 p.T296fs 1.000 pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 114 0 0.00 22 41 61.19 - - - TDRD3 0 genome.wustl.edu 37 13 61083925 61083925 + Frame_Shift_Del DEL C C - TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-11A-31D-A10E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 f6c39a94-160d-4231-b12f-33c28ebbacf9 13 61083925 61083925 C - DEL TDRD3 ENST00000535286 human ensembl 69_37n +1 known frame_shift_del c.887 p.T296fs 1.000 pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 123 1 0.80 22 41 61.19 - - - TMCO6 0 genome.wustl.edu 37 5 140023514 140023514 + Silent SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 5 140023514 140023514 G A SNP TMCO6 ENST00000252100 human ensembl 69_37n +1 known silent c.1086 p.L362 0.983 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 145 0 0.00 96 64 39.75 - - - UBR3 0 genome.wustl.edu 37 2 170897490 170897490 + Missense_Mutation SNP G G A TCGA-BH-A0DH-01A-11D-A099-09 TCGA-BH-A0DH-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7aa19e23-48fe-4ce9-89f8-dd7513e4cb62 2bb52edf-252d-480f-ad2b-afc9c890fdfe 2 170897490 170897490 G A SNP UBR3 ENST00000272793 human ensembl 69_37n +1 known missense c.4655 p.R1552H 0.956 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 99 0 0.00 50 30 37.50 - - -