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 ADAM11 0 genome.wustl.edu 37 17 42855138 42855138 + Missense_Mutation SNP G G C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 17 42855138 42855138 G C SNP ADAM11 ENST00000200557 human ensembl 69_37n +1 known missense c.1977 p.M659I 1.000 smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM11 HGNC ENSG00000073670 25 0 0.00 19 8 29.63 - - - ALG3 0 genome.wustl.edu 37 3 183963556 183963556 + Missense_Mutation SNP C C T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 3 183963556 183963556 C T SNP ALG3 ENST00000397676 human ensembl 69_37n -1 known missense c.241 p.V81I 0.992 pfam_Glycosyltransferase_ALG3 pfam_Glycosyltransferase_ALG3 - no_errors ALG3 HGNC ENSG00000214160 61 0 0.00 11 13 54.17 - - - CCDC39 0 genome.wustl.edu 37 3 180379771 180379771 + Missense_Mutation SNP C C T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 3 180379771 180379771 C T SNP CCDC39 ENST00000442201 human ensembl 69_37n -1 known missense c.235 p.E79K 1.000 superfamily_tRNA-bd_arm superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 79 0 0.00 36 10 21.74 - - - CDH9 0 genome.wustl.edu 37 5 26881562 26881562 + Missense_Mutation SNP C C A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 5 26881562 26881562 C A SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known missense c.2053 p.D685Y 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 97 0 0.00 54 10 15.62 - - - DCHS2 0 genome.wustl.edu 37 4 155160378 155160378 + Missense_Mutation SNP T T A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 4 155160378 155160378 T A SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.6071 p.N2024I 0.026 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 61 0 0.00 26 11 29.73 - - - DCHS2 0 genome.wustl.edu 37 4 155411020 155411020 + Silent SNP G G T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 4 155411020 155411020 G T SNP DCHS2 ENST00000339452 human ensembl 69_37n -1 known silent c.1488 p.P496 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 13 0 0.00 24 8 25.00 - - - DHX8 0 genome.wustl.edu 37 17 41570310 41570310 + Missense_Mutation SNP C C A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 17 41570310 41570310 C A SNP DHX8 ENST00000262415 human ensembl 69_37n +1 known missense c.765 p.D255E 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 47 0 0.00 26 5 16.13 - - - DIP2A 0 genome.wustl.edu 37 21 47910571 47910571 + Silent SNP C C G TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 21 47910571 47910571 C G SNP DIP2A ENST00000318711 human ensembl 69_37n +1 known silent c.222 p.A74 0.000 pfam_DMAP1-bd pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 44 0 0.00 23 14 37.84 - - - DIS3L2 0 genome.wustl.edu 37 2 232995451 232995451 + Frame_Shift_Del DEL C C - TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 2 232995451 232995451 C - DEL DIS3L2 ENST00000409401 human ensembl 69_37n +1 known frame_shift_del c.724 p.P242fs 0.000 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 40 0 0.00 14 2 12.50 - - - DNAJC28 0 genome.wustl.edu 37 21 34860884 34860884 + Missense_Mutation SNP C C G TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 21 34860884 34860884 C G SNP DNAJC28 ENST00000314399 human ensembl 69_37n -1 known missense c.817 p.A273P 0.017 pfam_DnaJ_homolog_subfam-C_membr-28 pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC28 HGNC ENSG00000177692 83 0 0.00 58 24 29.27 - - - EFHD1 0 genome.wustl.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 2 233546363 233546365 GGA - DEL EFHD1 ENST00000264059 human ensembl 69_37n +1 known in_frame_del c.654_656 p.E222in_frame_del 0.139:0.908:0.992 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHD1 HGNC ENSG00000115468 47 0 0.00 17 3 15.00 - - - EGFL8 0 genome.wustl.edu 37 6 32133979 32133979 + Missense_Mutation SNP G G A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 6 32133979 32133979 G A SNP EGFL8 ENST00000333845 human ensembl 69_37n +1 known missense c.37 p.G13R 0.017 NULL pfam_EMI_domain,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC ENSG00000241404 48 0 0.00 25 13 34.21 - - - EPHA5 0 genome.wustl.edu 37 4 66356262 66356262 + Missense_Mutation SNP A A T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 4 66356262 66356262 A T SNP EPHA5 ENST00000273854 human ensembl 69_37n -1 known missense c.1235 p.V412D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 50 0 0.00 28 4 12.50 - - - ETV1 0 genome.wustl.edu 37 7 14025746 14025746 + Missense_Mutation SNP G G T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 7 14025746 14025746 G T SNP ETV1 ENST00000420159 human ensembl 69_37n -1 known missense c.56 p.T19K 0.988 NULL pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV1 HGNC ENSG00000006468 66 0 0.00 38 7 15.56 - - - GNB2L1 0 genome.wustl.edu 37 5 180665141 180665141 + Missense_Mutation SNP G G C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 5 180665141 180665141 G C SNP GNB2L1 ENST00000504128 human ensembl 69_37n -1 putative missense c.454 p.L152V 0.996 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GNB2L1 HGNC ENSG00000204628 49 0 0.00 34 7 17.07 - - - GTF3C4 0 genome.wustl.edu 37 9 135553785 135553785 + Missense_Mutation SNP A A G TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 9 135553785 135553785 A G SNP GTF3C4 ENST00000372146 human ensembl 69_37n +1 known missense c.779 p.Q260R 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 46 0 0.00 29 4 12.12 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32552016 32552016 + Silent SNP C C A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 6 32552016 32552016 C A SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known silent c.240 p.T80 0.834 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 10 0 0.00 2 8 80.00 - - - HYAL4 0 genome.wustl.edu 37 7 123508629 123508629 + Missense_Mutation SNP A A G TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 7 123508629 123508629 A G SNP HYAL4 ENST00000223026 human ensembl 69_37n +1 known missense c.302 p.Y101C 0.998 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase,prints_Glyco_hydro_56_PH20 - no_errors HYAL4 HGNC ENSG00000106302 32 0 0.00 18 4 18.18 - - - IRS1 0 genome.wustl.edu 37 2 227661664 227661664 + Frame_Shift_Del DEL C C - TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 2 227661664 227661664 C - DEL IRS1 ENST00000305123 human ensembl 69_37n -1 known frame_shift_del c.1791 p.H598fs 0.995 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 22 0 0.00 11 2 15.38 - - - KATNB1 0 genome.wustl.edu 37 16 57789124 57789124 + Missense_Mutation SNP G G C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 16 57789124 57789124 G C SNP KATNB1 ENST00000379661 human ensembl 69_37n +1 known missense c.1390 p.G464R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 22 0 0.00 14 5 26.32 - - - KCNH6 0 genome.wustl.edu 37 17 61619777 61619777 + Silent SNP C C A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 17 61619777 61619777 C A SNP KCNH6 ENST00000583023 human ensembl 69_37n +1 known silent c.2130 p.V710 1.000 smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 41 0 0.00 27 5 15.62 - - - KCNN3 0 genome.wustl.edu 37 1 154842243 154842243 + Silent SNP A A C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 1 154842243 154842243 A C SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known silent c.198 p.L66 0.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 8 0 0.00 17 11 39.29 - - - KCNN3 0 genome.wustl.edu 37 1 154842244 154842244 + Missense_Mutation SNP A A T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 1 154842244 154842244 A T SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known missense c.197 p.L66H 0.166 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 8 0 0.00 16 11 40.74 - - - KRTAP22-2 0 genome.wustl.edu 37 21 31962623 31962623 + Missense_Mutation SNP G G T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 21 31962623 31962623 G T SNP KRTAP22-2 ENST00000382830 human ensembl 69_37n -1 known missense c.71 p.S24Y 0.000 NULL NULL - no_errors KRTAP22-2 HGNC ENSG00000206106 53 0 0.00 22 9 29.03 - - - LCORL 0 genome.wustl.edu 37 4 17885617 17885617 + Missense_Mutation SNP C C T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 4 17885617 17885617 C T SNP LCORL ENST00000382226 human ensembl 69_37n -1 known missense c.1535 p.S512N 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCORL HGNC ENSG00000178177 71 0 0.00 36 6 14.29 - - - LILRB5 0 genome.wustl.edu 37 19 54758227 54758227 + Splice_Site SNP C C T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 19 54758227 54758227 C T SNP LILRB5 ENST00000450632 human ensembl 69_37n -1 known splice_site c.1279+1 e7+1 0.000 - - - no_errors LILRB5 HGNC ENSG00000105609 21 0 0.00 15 13 46.43 - - - LPA 0 genome.wustl.edu 37 6 161007579 161007579 + Missense_Mutation SNP T T C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 6 161007579 161007579 T C SNP LPA ENST00000316300 human ensembl 69_37n -1 known missense c.4031 p.E1344G 1.000 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 111 0 0.00 43 7 14.00 - - - LRP2 0 genome.wustl.edu 37 2 169993902 169993902 + Missense_Mutation SNP C C A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 2 169993902 169993902 C A SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.13620 p.Q4540H 0.984 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 75 0 0.00 42 11 20.75 - - - MACF1 0 genome.wustl.edu 37 1 39838233 39838233 + Missense_Mutation SNP T T C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 1 39838233 39838233 T C SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.6992 p.M2331T 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 60 0 0.00 38 6 13.64 - - - MAP3K1 0 genome.wustl.edu 37 5 56177954 56177954 + Missense_Mutation SNP C C T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 5 56177954 56177954 C T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel missense c.2927 p.S976F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 86 0 0.00 23 5 17.86 - - - MICA 0 genome.wustl.edu 37 6 31378388 31378388 + Missense_Mutation SNP G G A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 6 31378388 31378388 G A SNP MICA ENST00000364810 human ensembl 69_37n +1 known missense c.139 p.A47T 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC ENSG00000204520 8 0 0.00 1 6 85.71 - - - MID1 0 genome.wustl.edu 37 X 10442722 10442722 + Missense_Mutation SNP G G A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc X 10442722 10442722 G A SNP MID1 ENST00000317552 human ensembl 69_37n -1 known missense c.1082 p.T361I 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 99 0 0.00 33 9 21.43 - - - NFE2L3 0 genome.wustl.edu 37 7 26225179 26225180 + Frame_Shift_Del DEL AA AA - TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 7 26225179 26225180 AA - DEL NFE2L3 ENST00000056233 human ensembl 69_37n +1 known frame_shift_del c.1861_1862 p.K621fs 0.004:0.004 pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,smart_bZIP,pfscan_bZIP pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 41 0 0.00 15 8 34.78 - - - OR13C5 0 genome.wustl.edu 37 9 107361066 107361066 + Missense_Mutation SNP G G T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 9 107361066 107361066 G T SNP OR13C5 ENST00000374779 human ensembl 69_37n -1 known missense c.629 p.P210H 0.012 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13C5 HGNC ENSG00000255800 36 0 0.00 24 5 17.24 - - - PARP8 0 genome.wustl.edu 37 5 50130705 50130705 + Nonsense_Mutation SNP G G T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 5 50130705 50130705 G T SNP PARP8 ENST00000503561 human ensembl 69_37n +1 novel nonsense c.1540 p.E514* 0.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 61 0 0.00 24 7 22.58 - - - PCDHA2 0 genome.wustl.edu 37 5 140174742 140174742 + Missense_Mutation SNP C C T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 5 140174742 140174742 C T SNP PCDHA2 ENST00000526136 human ensembl 69_37n +1 known missense c.193 p.R65W 0.658 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 34 0 0.00 22 6 21.43 - - - PCDHGB3 0 genome.wustl.edu 37 5 140752364 140752364 + Silent SNP C C A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 5 140752364 140752364 C A SNP PCDHGB3 ENST00000576222 human ensembl 69_37n +1 known silent c.2403 p.G801 0.005 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 33 0 0.00 10 4 28.57 - - - PITPNM3 0 genome.wustl.edu 37 17 6387550 6387550 + Missense_Mutation SNP G G T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 17 6387550 6387550 G T SNP PITPNM3 ENST00000262483 human ensembl 69_37n -1 known missense c.337 p.H113N 0.995 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 41 0 0.00 21 4 16.00 - - - PNMAL1 0 genome.wustl.edu 37 19 46973547 46973549 + In_Frame_Del DEL TTC TTC - TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 19 46973547 46973549 TTC - DEL PNMAL1 ENST00000313683 human ensembl 69_37n -1 known in_frame_del c.746_744 p.K248in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 17 0 0.00 9 4 30.77 - - - PRPF38A 0 genome.wustl.edu 37 1 52871446 52871446 + Missense_Mutation SNP G G C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 1 52871446 52871446 G C SNP PRPF38A ENST00000257181 human ensembl 69_37n +1 known missense c.225 p.L75F 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 80 0 0.00 37 7 15.91 - - - PRRC2C 0 genome.wustl.edu 37 1 171494044 171494044 + Silent SNP A A G TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 1 171494044 171494044 A G SNP PRRC2C ENST00000392078 human ensembl 69_37n +1 known silent c.1140 p.Q380 0.862 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 58 0 0.00 38 13 25.49 - - - PTDSS1 0 genome.wustl.edu 37 8 97274333 97274333 + Missense_Mutation SNP G G A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 8 97274333 97274333 G A SNP PTDSS1 ENST00000517309 human ensembl 69_37n +1 known missense c.65 p.R22Q 1.000 NULL pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 32 0 0.00 47 6 11.32 - - - PTPN13 0 genome.wustl.edu 37 4 87671758 87671758 + Missense_Mutation SNP C C G TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 4 87671758 87671758 C G SNP PTPN13 ENST00000436978 human ensembl 69_37n +1 known missense c.2786 p.A929G 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 29 0 0.00 16 5 23.81 - - - PTPRN2 0 genome.wustl.edu 37 7 157691399 157691399 + Missense_Mutation SNP G G T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 7 157691399 157691399 G T SNP PTPRN2 ENST00000404321 human ensembl 69_37n -1 known missense c.1823 p.S608Y 0.332 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 81 0 0.00 39 8 17.02 - - - RLF 0 genome.wustl.edu 37 1 40702996 40702996 + Missense_Mutation SNP A A T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 1 40702996 40702996 A T SNP RLF ENST00000372771 human ensembl 69_37n +1 known missense c.2622 p.E874D 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 34 0 0.00 22 12 35.29 - - - RNF157 0 genome.wustl.edu 37 17 74150372 74150372 + Missense_Mutation SNP G G A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 17 74150372 74150372 G A SNP RNF157 ENST00000269391 human ensembl 69_37n -1 known missense c.1802 p.T601M 0.026 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 58 0 0.00 17 5 22.73 - - - SCN7A 0 genome.wustl.edu 37 2 167273377 167273377 + Missense_Mutation SNP T T C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 2 167273377 167273377 T C SNP SCN7A ENST00000409855 human ensembl 69_37n -1 known missense c.3254 p.Y1085C 0.588 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 74 0 0.00 10 23 69.70 - - - SLC39A12 0 genome.wustl.edu 37 10 18242296 18242296 + Missense_Mutation SNP G G A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 10 18242296 18242296 G A SNP SLC39A12 ENST00000377369 human ensembl 69_37n +1 known missense c.91 p.A31T 0.000 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 59 0 0.00 41 6 12.77 - - - STEAP1 0 genome.wustl.edu 37 7 89790307 89790307 + Silent SNP G G A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 7 89790307 89790307 G A SNP STEAP1 ENST00000297205 human ensembl 69_37n +1 known silent c.273 p.L91 0.505 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1 HGNC ENSG00000164647 95 0 0.00 45 7 13.46 - - - TLL1 0 genome.wustl.edu 37 4 167012408 167012408 + Silent SNP T T C TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 4 167012408 167012408 T C SNP TLL1 ENST00000061240 human ensembl 69_37n +1 known silent c.2571 p.L857 0.458 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 37 0 0.00 26 6 18.75 - - - TMEM171 0 genome.wustl.edu 37 5 72424228 72424228 + Missense_Mutation SNP A A T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 5 72424228 72424228 A T SNP TMEM171 ENST00000454765 human ensembl 69_37n +1 known missense c.652 p.I218L 0.999 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 122 0 0.00 66 15 18.52 - - - TP53 0 genome.wustl.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc 17 7578263 7578263 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.586 p.R196* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 76 0 0.00 16 23 58.97 - - - WDR13 0 genome.wustl.edu 37 X 48460302 48460302 + Missense_Mutation SNP C C T TCGA-E9-A1N9-01A-11D-A14G-09 TCGA-E9-A1N9-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2aa7a1db-40a5-421b-97ab-1031e6fa7f04 8ad40192-c404-4cfa-b30c-1e76452dadbc X 48460302 48460302 C T SNP WDR13 ENST00000218056 human ensembl 69_37n +1 known missense c.962 p.A321V 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 34 0 0.00 11 4 26.67 - - -