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 ACD 0 genome.wustl.edu 37 16 67694153 67694153 + Missense_Mutation SNP G G C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 16 67694153 67694153 G C SNP ACD ENST00000219251 human ensembl 69_37n -1 known missense c.229 p.P77A 0.000 NULL pfam_Telomere_Pot1 - no_errors ACD HGNC ENSG00000102977 13 0 0.00 11 4 26.67 - - - ACSM5 0 genome.wustl.edu 37 16 20422836 20422836 + Silent SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 16 20422836 20422836 C A SNP ACSM5 ENST00000331849 human ensembl 69_37n +1 known silent c.30 p.L10 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 34 0 0.00 20 21 51.22 - - - ACVRL1 0 genome.wustl.edu 37 12 52307765 52307765 + Missense_Mutation SNP T T G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 12 52307765 52307765 T G SNP ACVRL1 ENST00000550683 human ensembl 69_37n +1 known missense c.575 p.L192R 0.998 pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVRL1 HGNC ENSG00000139567 41 0 0.00 19 11 36.67 - - - AP1G1 0 genome.wustl.edu 37 16 71805063 71805063 + Missense_Mutation SNP G G T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 16 71805063 71805063 G T SNP AP1G1 ENST00000433195 human ensembl 69_37n -1 known missense c.630 p.N210K 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 66 0 0.00 39 32 45.07 - - - ARSB 0 genome.wustl.edu 37 5 78181490 78181490 + Missense_Mutation SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 5 78181490 78181490 C A SNP ARSB ENST00000264914 human ensembl 69_37n -1 known missense c.1059 p.W353C 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSB HGNC ENSG00000113273 24 0 0.00 16 5 22.73 - - - ASPN 0 genome.wustl.edu 37 9 95227293 95227293 + Missense_Mutation SNP A A T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 9 95227293 95227293 A T SNP ASPN ENST00000375544 human ensembl 69_37n -1 known missense c.620 p.L207H 1.000 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 40 0 0.00 22 9 29.03 - - - ATP11A 0 genome.wustl.edu 37 13 113481187 113481187 + Nonsense_Mutation SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 13 113481187 113481187 C A SNP ATP11A ENST00000418678 human ensembl 69_37n +1 novel nonsense c.1127 p.S376* 0.093 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP11A HGNC ENSG00000068650 45 0 0.00 23 8 25.81 - - - BDH1 0 genome.wustl.edu 37 3 197249622 197249622 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 3 197249622 197249622 C T SNP BDH1 ENST00000358186 human ensembl 69_37n -1 known missense c.298 p.D100N 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC ENSG00000161267 43 0 0.00 20 22 52.38 - - - BTBD1 0 genome.wustl.edu 37 15 83686848 83686848 + Missense_Mutation SNP G G T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 15 83686848 83686848 G T SNP BTBD1 ENST00000261721 human ensembl 69_37n -1 known missense c.1420 p.Q474K 1.000 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 38 0 0.00 23 5 17.86 - - - C6 0 genome.wustl.edu 37 5 41200004 41200004 + Missense_Mutation SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 5 41200004 41200004 C A SNP C6 ENST00000263413 human ensembl 69_37n -1 known missense c.311 p.R104I 0.980 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 28 0 0.00 13 9 40.91 - - - CCNH 0 genome.wustl.edu 37 5 86695302 86695302 + Nonsense_Mutation SNP T T A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 5 86695302 86695302 T A SNP CCNH ENST00000256897 human ensembl 69_37n -1 known nonsense c.781 p.K261* 1.000 superfamily_Cyclin-like,pirsf_Cyclin_C/H,tigrfam_Cyclin_H pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H,tigrfam_Cyclin_H - no_errors CCNH HGNC ENSG00000134480 59 0 0.00 24 14 36.84 - - - CDK10 0 genome.wustl.edu 37 16 89753195 89753195 + Missense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 16 89753195 89753195 C G SNP CDK10 ENST00000353379 human ensembl 69_37n +1 known missense c.77 p.P26R 0.995 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 - no_errors CDK10 HGNC ENSG00000185324 30 0 0.00 14 6 30.00 - - - CDK11B 0 genome.wustl.edu 37 1 1573174 1573174 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 1 1573174 1573174 C T SNP CDK11B ENST00000407249 human ensembl 69_37n -1 known missense c.1423 p.E475K 1.000 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 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 - no_errors CDK11B HGNC ENSG00000248333 79 0 0.00 86 18 17.31 - - - CLDN16 0 genome.wustl.edu 37 3 190105967 190105967 + Nonsense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 3 190105967 190105967 C G SNP CLDN16 ENST00000264734 human ensembl 69_37n +1 known nonsense c.59 p.S20* 0.006 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 39 0 0.00 15 14 48.28 - - - CRTAC1 0 genome.wustl.edu 37 10 99655137 99655137 + Missense_Mutation SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 10 99655137 99655137 G A SNP CRTAC1 ENST00000370597 human ensembl 69_37n -1 known missense c.1351 p.R451C 0.965 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd - no_errors CRTAC1 HGNC ENSG00000095713 23 0 0.00 15 7 31.82 - - - CSMD2 0 genome.wustl.edu 37 1 34100819 34100819 + Missense_Mutation SNP T T C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 1 34100819 34100819 T C SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.5081 p.D1694G 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 41 0 0.00 24 8 25.00 - - - DAZAP1 0 genome.wustl.edu 37 19 1432662 1432662 + Nonsense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 19 1432662 1432662 C T SNP DAZAP1 ENST00000233078 human ensembl 69_37n +1 known nonsense c.1021 p.Q341* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 23 0 0.00 11 10 47.62 - - - DHRS13 0 genome.wustl.edu 37 17 27228573 27228573 + Missense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 17 27228573 27228573 C G SNP DHRS13 ENST00000378895 human ensembl 69_37n -1 known missense c.308 p.R103P 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRS13 HGNC ENSG00000167536 26 0 0.00 18 8 30.77 - - - DNAH11 0 genome.wustl.edu 37 7 21920374 21920374 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 7 21920374 21920374 C T SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.12271 p.L4091F 0.984 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 75 0 0.00 38 9 19.15 - - - DPYSL3 0 genome.wustl.edu 37 5 146785290 146785290 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 5 146785290 146785290 C T SNP DPYSL3 ENST00000398514 human ensembl 69_37n -1 known missense c.694 p.E232K 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 49 0 0.00 29 21 42.00 - - - ETV5 0 genome.wustl.edu 37 3 185774898 185774898 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 3 185774898 185774898 C T SNP ETV5 ENST00000537818 human ensembl 69_37n -1 known missense c.1301 p.R434Q 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV5 HGNC ENSG00000244405 55 0 0.00 37 8 17.78 - - - FAM49A 0 genome.wustl.edu 37 2 16740738 16740738 + Missense_Mutation SNP G G C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 2 16740738 16740738 G C SNP FAM49A ENST00000355549 human ensembl 69_37n -1 known missense c.827 p.S276C 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 38 0 0.00 39 6 13.33 - - - FCRL5 0 genome.wustl.edu 37 1 157504397 157504397 + Missense_Mutation SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 1 157504397 157504397 C A SNP FCRL5 ENST00000368189 human ensembl 69_37n -1 known missense c.1688 p.C563F 0.002 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC ENSG00000143297 20 0 0.00 2 7 77.78 - - - FGFR2 0 genome.wustl.edu 37 10 123247597 123247597 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 10 123247597 123247597 C T SNP FGFR2 ENST00000457416 human ensembl 69_37n -1 known missense c.1897 p.V633I 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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 pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 72 0 0.00 41 8 16.33 - - - FREM3 0 genome.wustl.edu 37 4 144618543 144618543 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 4 144618543 144618543 C T SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative missense c.3286 p.E1096K 0.936 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 26 0 0.00 19 8 29.63 - - - GALNT9 0 genome.wustl.edu 37 12 132685719 132685719 + Missense_Mutation SNP T T G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 12 132685719 132685719 T G SNP GALNT9 ENST00000328957 human ensembl 69_37n -1 known missense c.1351 p.N451H 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC ENSG00000182870 34 0 0.00 12 12 50.00 - - - GATA3 0 genome.wustl.edu 37 10 8111513 8111514 + Frame_Shift_Ins INS - - G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 10 8111513 8111514 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1002_1003 p.D335fs 0.859:1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 44 0 0.00 31 7 18.42 - - - GPR112 0 genome.wustl.edu 37 X 135441470 135441471 + Frame_Shift_Ins INS - - T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e X 135441470 135441471 - T INS GPR112 ENST00000370652 human ensembl 69_37n +1 known frame_shift_ins c.7000_7001 p.A2336fs 0.952:0.996 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 57 0 0.00 32 18 36.00 - - - GRIA3 0 genome.wustl.edu 37 X 122387187 122387187 + Missense_Mutation SNP T T C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e X 122387187 122387187 T C SNP GRIA3 ENST00000264357 human ensembl 69_37n +1 known missense c.302 p.I101T 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 77 0 0.00 42 17 28.81 - - - GRIN3A 0 genome.wustl.edu 37 9 104375772 104375772 + Silent SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 9 104375772 104375772 G A SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known silent c.2652 p.T884 0.999 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 44 0 0.00 33 4 10.81 - - - HECW1 0 genome.wustl.edu 37 7 43546786 43546786 + Missense_Mutation SNP G G C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 7 43546786 43546786 G C SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known missense c.3682 p.E1228Q 1.000 superfamily_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 63 0 0.00 31 13 29.55 - - - IGSF1 0 genome.wustl.edu 37 X 130410058 130410058 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e X 130410058 130410058 C T SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known missense c.2788 p.A930T 0.953 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 25 0 0.00 18 7 28.00 - - - IQGAP2 0 genome.wustl.edu 37 5 75757398 75757398 + Missense_Mutation SNP T T A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 5 75757398 75757398 T A SNP IQGAP2 ENST00000274364 human ensembl 69_37n +1 known missense c.50 p.I17N 0.967 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 52 0 0.00 35 9 20.45 - - - IQUB 0 genome.wustl.edu 37 7 123150084 123150084 + Missense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 7 123150084 123150084 C G SNP IQUB ENST00000324698 human ensembl 69_37n -1 known missense c.403 p.V135L 0.993 pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 26 0 0.00 12 4 25.00 - - - ITPR3 0 genome.wustl.edu 37 6 33647763 33647763 + Silent SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 6 33647763 33647763 C T SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known silent c.4077 p.H1359 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 18 0 0.00 1 9 90.00 - - - KDM2A 0 genome.wustl.edu 37 11 67018032 67018032 + Frame_Shift_Del DEL C C - TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 11 67018032 67018032 C - DEL KDM2A ENST00000529006 human ensembl 69_37n +1 known frame_shift_del c.2531 p.Q846fs 0.890 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 31 0 0.00 18 2 10.00 - - - LAMA1 0 genome.wustl.edu 37 18 6993719 6993719 + Silent SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 18 6993719 6993719 C A SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known silent c.4929 p.V1643 0.001 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 65 0 0.00 29 17 36.96 - - - LRCH2 0 genome.wustl.edu 37 X 114357648 114357648 + Missense_Mutation SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e X 114357648 114357648 G A SNP LRCH2 ENST00000317135 human ensembl 69_37n -1 known missense c.1957 p.R653C 1.000 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC ENSG00000130224 68 0 0.00 50 24 32.43 - - - MAGEC1 0 genome.wustl.edu 37 X 140995860 140995860 + Silent SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e X 140995860 140995860 C A SNP MAGEC1 ENST00000285879 human ensembl 69_37n +1 known silent c.2670 p.S890 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 50 0 0.00 21 8 27.59 - - - MAGEE1 0 genome.wustl.edu 37 X 75651135 75651135 + Missense_Mutation SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e X 75651135 75651135 G A SNP MAGEE1 ENST00000361470 human ensembl 69_37n +1 known missense c.2812 p.E938K 0.995 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 44 0 0.00 25 6 19.35 - - - MED22 0 genome.wustl.edu 37 9 136212104 136212104 + Missense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 9 136212104 136212104 C G SNP MED22 ENST00000343730 human ensembl 69_37n -1 known missense c.127 p.E43Q 1.000 NULL NULL - no_errors MED22 HGNC ENSG00000148297 29 0 0.00 5 7 58.33 - - - MGAM 0 genome.wustl.edu 37 7 141786092 141786092 + Silent SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 7 141786092 141786092 C T SNP MGAM ENST00000475668 human ensembl 69_37n +1 putative silent c.6714 p.I2238 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 39 0 0.00 17 8 32.00 - - - MTMR6 0 genome.wustl.edu 37 13 25831915 25831915 + Frame_Shift_Del DEL G G - TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 13 25831915 25831915 G - DEL MTMR6 ENST00000381801 human ensembl 69_37n -1 known frame_shift_del c.928 p.H310fs 1.000 smart_Tyr_Pase_cat pfam_Myotub-related,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 64 0 0.00 16 2 11.11 - - - MXRA5 0 genome.wustl.edu 37 X 3241188 3241188 + Silent SNP A A C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e X 3241188 3241188 A C SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known silent c.2538 p.P846 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 59 0 0.00 26 14 35.00 - - - MYADML 0 genome.wustl.edu 37 2 33952584 33952584 + RNA SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 2 33952584 33952584 C T SNP MYADML ENST00000474610 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors MYADML HGNC ENSG00000239649 22 0 0.00 5 6 54.55 - - - MYO9A 0 genome.wustl.edu 37 15 72320073 72320073 + Missense_Mutation SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 15 72320073 72320073 G A SNP MYO9A ENST00000424560 human ensembl 69_37n -1 known missense c.997 p.R333W 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 51 0 0.00 39 29 42.65 - - - MYOF 0 genome.wustl.edu 37 10 95069836 95069836 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 10 95069836 95069836 C T SNP MYOF ENST00000359263 human ensembl 69_37n -1 known missense c.6088 p.G2030S 0.825 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC ENSG00000138119 35 0 0.00 16 5 23.81 - - - NAV3 0 genome.wustl.edu 37 12 78530992 78530992 + Missense_Mutation SNP G G C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 12 78530992 78530992 G C SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known missense c.4477 p.G1493R 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 89 0 0.00 51 19 27.14 - - - NFKBIZ 0 genome.wustl.edu 37 3 101572147 101572148 + Frame_Shift_Ins INS - - G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 3 101572147 101572148 - G INS NFKBIZ ENST00000326172 human ensembl 69_37n +1 known frame_shift_ins c.777_778 p.Q260fs 0.906:0.909 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 NFKBIZ HGNC ENSG00000144802 41 0 0.00 20 30 60.00 - - - NFKBIZ 0 genome.wustl.edu 37 3 101573907 101573907 + Missense_Mutation SNP G G T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 3 101573907 101573907 G T SNP NFKBIZ ENST00000326172 human ensembl 69_37n +1 known missense c.1445 p.S482I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIZ HGNC ENSG00000144802 20 0 0.00 21 6 22.22 - - - NID2 0 genome.wustl.edu 37 14 52493941 52493941 + Silent SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 14 52493941 52493941 G A SNP NID2 ENST00000216286 human ensembl 69_37n -1 known silent c.2652 p.A884 0.000 smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 16 0 0.00 8 4 33.33 - - - NLRP4 0 genome.wustl.edu 37 19 56372911 56372911 + Missense_Mutation SNP T T G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 19 56372911 56372911 T G SNP NLRP4 ENST00000589437 human ensembl 69_37n +1 novel missense c.713 p.L238W 0.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NLRP4 HGNC ENSG00000160505 19 0 0.00 20 12 37.50 - - - NOP56 0 genome.wustl.edu 37 20 2636061 2636061 + Silent SNP A A G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 20 2636061 2636061 A G SNP NOP56 ENST00000329276 human ensembl 69_37n +1 known silent c.660 p.R220 0.423 NULL pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP56 HGNC ENSG00000101361 50 0 0.00 32 9 21.95 - - - NRG3 0 genome.wustl.edu 37 10 84711230 84711232 + In_Frame_Del DEL GAA GAA - TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 10 84711230 84711232 GAA - DEL NRG3 ENST00000404547 human ensembl 69_37n +1 known in_frame_del c.1060_1062 p.E355in_frame_del 1.000:1.000:1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 61 0 0.00 51 8 13.56 - - - OAS2 0 genome.wustl.edu 37 12 113435403 113435403 + Missense_Mutation SNP G G T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 12 113435403 113435403 G T SNP OAS2 ENST00000342315 human ensembl 69_37n +1 known missense c.706 p.G236W 0.909 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 42 0 0.00 21 11 34.38 - - - OC90 0 genome.wustl.edu 37 8 133058114 133058114 + Silent SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 8 133058114 133058114 G A SNP OC90 ENST00000443356 human ensembl 69_37n -1 known silent c.63 p.D21 1.000 NULL pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk - no_errors OC90 HGNC ENSG00000253117 88 0 0.00 50 18 26.47 - - - OR2AT4 0 genome.wustl.edu 37 11 74800231 74800231 + Frame_Shift_Del DEL A A - TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 11 74800231 74800231 A - DEL OR2AT4 ENST00000305159 human ensembl 69_37n -1 known frame_shift_del c.528 p.I176fs 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 44 0 0.00 59 12 16.67 - - - OR4A5 0 genome.wustl.edu 37 11 51412084 51412084 + Silent SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 11 51412084 51412084 G A SNP OR4A5 ENST00000319760 human ensembl 69_37n -1 known silent c.312 p.F104 0.000 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 OR4A5 HGNC ENSG00000221840 43 0 0.00 28 11 28.21 - - - OSR2 0 genome.wustl.edu 37 8 99961516 99961516 + Missense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 8 99961516 99961516 C G SNP OSR2 ENST00000457907 human ensembl 69_37n +1 known missense c.699 p.D233E 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 28 0 0.00 13 4 23.53 - - - PANX3 0 genome.wustl.edu 37 11 124481538 124481538 + Missense_Mutation SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 11 124481538 124481538 G A SNP PANX3 ENST00000284288 human ensembl 69_37n +1 known missense c.86 p.R29H 0.966 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 47 0 0.00 8 21 72.41 - - - PCDHAC1 0 genome.wustl.edu 37 5 140307514 140307514 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 5 140307514 140307514 C T SNP PCDHAC1 ENST00000253807 human ensembl 69_37n +1 known missense c.1037 p.S346L 0.001 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 38 0 0.00 40 7 14.89 - - - PDE11A 0 genome.wustl.edu 37 2 178681608 178681608 + Missense_Mutation SNP A A G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 2 178681608 178681608 A G SNP PDE11A ENST00000286063 human ensembl 69_37n -1 known missense c.1685 p.I562T 1.000 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 49 0 0.00 29 12 29.27 - - - PDYN 0 genome.wustl.edu 37 20 1961172 1961172 + Missense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 20 1961172 1961172 C G SNP PDYN ENST00000217305 human ensembl 69_37n -1 known missense c.562 p.E188Q 0.998 NULL pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 50 0 0.00 24 16 40.00 - - - PHF20L1 0 genome.wustl.edu 37 8 133849986 133849986 + Silent SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 8 133849986 133849986 C T SNP PHF20L1 ENST00000220847 human ensembl 69_37n +1 known silent c.282 p.S94 0.652 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 73 0 0.00 39 24 38.10 - - - POLD1 0 genome.wustl.edu 37 19 50905959 50905959 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 19 50905959 50905959 C T SNP POLD1 ENST00000440232 human ensembl 69_37n +1 known missense c.931 p.R311C 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B 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,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 14 0 0.00 3 4 57.14 - - - PRKD3 0 genome.wustl.edu 37 2 37501751 37501751 + Silent SNP G G T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 2 37501751 37501751 G T SNP PRKD3 ENST00000234179 human ensembl 69_37n -1 known silent c.1464 p.I488 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 29 0 0.00 11 13 54.17 - - - RAET1G 0 genome.wustl.edu 37 6 150239333 150239333 + Silent SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 6 150239333 150239333 C G SNP RAET1G ENST00000367360 human ensembl 69_37n -1 known silent c.819 p.L273 0.000 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1G HGNC ENSG00000203722 83 0 0.00 153 45 22.61 - - - RAX2 0 genome.wustl.edu 37 19 3771698 3771698 + Missense_Mutation SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 19 3771698 3771698 C T SNP RAX2 ENST00000555978 human ensembl 69_37n -1 known missense c.43 p.G15S 0.003 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RAX2 HGNC ENSG00000173976 32 0 0.00 14 7 33.33 - - - RIMS1 0 genome.wustl.edu 37 6 72889545 72889545 + Frame_Shift_Del DEL C C - TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 6 72889545 72889545 C - DEL RIMS1 ENST00000521978 human ensembl 69_37n +1 known frame_shift_del c.739 p.S248fs 0.000 NULL pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 20 0 0.00 5 2 28.57 - - - SDE2 0 genome.wustl.edu 37 1 226175683 226175683 + Missense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 1 226175683 226175683 C G SNP SDE2 ENST00000272091 human ensembl 69_37n -1 known missense c.1048 p.D350H 0.042 NULL superfamily_Mopterin_synth/thiamin_S_b - no_errors SDE2 HGNC ENSG00000143751 103 0 0.00 108 35 24.48 - - - SDK1 0 genome.wustl.edu 37 7 4153064 4153064 + Missense_Mutation SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 7 4153064 4153064 G A SNP SDK1 ENST00000404826 human ensembl 69_37n +1 known missense c.3578 p.R1193H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 20 0 0.00 12 8 40.00 - - - SH3D19 0 genome.wustl.edu 37 4 152043323 152043323 + Missense_Mutation SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 4 152043323 152043323 C A SNP SH3D19 ENST00000304527 human ensembl 69_37n -1 known missense c.2293 p.D765Y 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 65 0 0.00 48 11 18.64 - - - SLC17A6 0 genome.wustl.edu 37 11 22397628 22397628 + Missense_Mutation SNP T T A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 11 22397628 22397628 T A SNP SLC17A6 ENST00000263160 human ensembl 69_37n +1 known missense c.1275 p.F425L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 52 0 0.00 14 15 51.72 - - - SLC22A7 0 genome.wustl.edu 37 6 43269378 43269378 + Silent SNP C C T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 6 43269378 43269378 C T SNP SLC22A7 ENST00000372585 human ensembl 69_37n +1 known silent c.1009 p.L337 0.999 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 15 0 0.00 8 9 52.94 - - - SLC39A6 0 genome.wustl.edu 37 18 33691125 33691125 + Missense_Mutation SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 18 33691125 33691125 C A SNP SLC39A6 ENST00000269187 human ensembl 69_37n -1 known missense c.2012 p.G671V 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 43 0 0.00 105 14 11.76 - - - SLC5A5 0 genome.wustl.edu 37 19 18004631 18004631 + Missense_Mutation SNP G G T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 19 18004631 18004631 G T SNP SLC5A5 ENST00000222248 human ensembl 69_37n +1 known missense c.1877 p.W626L 0.079 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 42 0 0.00 51 8 13.56 - - - SMARCC2 0 genome.wustl.edu 37 12 56580003 56580003 + Missense_Mutation SNP T T C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 12 56580003 56580003 T C SNP SMARCC2 ENST00000267064 human ensembl 69_37n -1 known missense c.253 p.K85E 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 43 0 0.00 37 7 15.91 - - - SNX25 0 genome.wustl.edu 37 4 186274707 186274707 + Missense_Mutation SNP G G T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 4 186274707 186274707 G T SNP SNX25 ENST00000264694 human ensembl 69_37n +1 known missense c.2043 p.L681F 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX25 HGNC ENSG00000109762 100 0 0.00 73 17 18.89 - - - SSRP1 0 genome.wustl.edu 37 11 57093910 57093910 + Missense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 11 57093910 57093910 C G SNP SSRP1 ENST00000278412 human ensembl 69_37n -1 known missense c.2101 p.E701Q 1.000 NULL pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition - no_errors SSRP1 HGNC ENSG00000149136 44 0 0.00 37 6 13.95 - - - STARD9 0 genome.wustl.edu 37 15 42982291 42982291 + Missense_Mutation SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 15 42982291 42982291 G A SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known missense c.8515 p.E2839K 0.001 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 43 0 0.00 6 6 50.00 - - - SV2A 0 genome.wustl.edu 37 1 149880762 149880762 + Missense_Mutation SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 1 149880762 149880762 C A SNP SV2A ENST00000369146 human ensembl 69_37n -1 known missense c.1361 p.W454L 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2A HGNC ENSG00000159164 109 0 0.00 164 205 55.56 - - - TDO2 0 genome.wustl.edu 37 4 156825222 156825222 + Missense_Mutation SNP A A G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 4 156825222 156825222 A G SNP TDO2 ENST00000536354 human ensembl 69_37n +1 known missense c.88 p.T30A 0.108 pfam_Trp_2_3_dOase pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 57 0 0.00 25 15 37.50 - - - TF 0 genome.wustl.edu 37 3 133473400 133473400 + Missense_Mutation SNP C C A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 3 133473400 133473400 C A SNP TF ENST00000402696 human ensembl 69_37n +1 known missense c.387 p.N129K 0.000 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors TF HGNC ENSG00000091513 38 0 0.00 27 6 18.18 - - - TSHZ1 0 genome.wustl.edu 37 18 72998785 72998785 + Missense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 18 72998785 72998785 C G SNP TSHZ1 ENST00000580243 human ensembl 69_37n +1 known missense c.1423 p.H475D 0.879 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 24 0 0.00 10 9 47.37 - - - TSKS 0 genome.wustl.edu 37 19 50266424 50266424 + Missense_Mutation SNP G G C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 19 50266424 50266424 G C SNP TSKS ENST00000246801 human ensembl 69_37n -1 known missense c.81 p.S27R 0.012 NULL NULL - no_errors TSKS HGNC ENSG00000126467 22 0 0.00 13 10 43.48 - - - WDR64 0 genome.wustl.edu 37 1 241936093 241936093 + Splice_Site SNP G G T TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 1 241936093 241936093 G T SNP WDR64 ENST00000366552 human ensembl 69_37n +1 known splice_site c.2261-1 e19-1 0.731 - - - no_errors WDR64 HGNC ENSG00000162843 38 0 0.00 24 16 40.00 - - - XRCC4 0 genome.wustl.edu 37 5 82500683 82500683 + Missense_Mutation SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 5 82500683 82500683 G A SNP XRCC4 ENST00000338635 human ensembl 69_37n +1 known missense c.688 p.D230N 1.000 pfam_DNA_ds_break_repair_XRCC4 pfam_DNA_ds_break_repair_XRCC4,superfamily_XRCC4_N - no_errors XRCC4 HGNC ENSG00000152422 41 0 0.00 27 15 35.71 - - - ZBTB38 0 genome.wustl.edu 37 3 141162010 141162010 + Silent SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 3 141162010 141162010 G A SNP ZBTB38 ENST00000321464 human ensembl 69_37n +1 known silent c.783 p.P261 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 39 0 0.00 20 7 25.93 - - - ZIC2 0 genome.wustl.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 13 100635008 100635010 CCA - DEL ZIC2 ENST00000376335 human ensembl 69_37n +1 known in_frame_del c.690_692 p.H234in_frame_del 0.990:0.999:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 13 0 0.00 8 2 20.00 - - - ZNF418 0 genome.wustl.edu 37 19 58437604 58437604 + Frame_Shift_Del DEL A A - TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 19 58437604 58437604 A - DEL ZNF418 ENST00000425570 human ensembl 69_37n -1 known frame_shift_del c.2008 p.C670fs 0.254 pfam_Znf_C2H2,smart_Znf_C2H2-like,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 ZNF418 HGNC ENSG00000196724 66 0 0.00 44 11 20.00 - - - ZNF718 0 genome.wustl.edu 37 4 155300 155300 + RNA SNP A A C TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 4 155300 155300 A C SNP ZNF718 ENST00000400172 human ensembl 69_37n +1 known rna NULL NULL 0.991 - - - no_errors ZNF718 HGNC ENSG00000250312 34 0 0.00 27 6 18.18 - - - ZNF829 0 genome.wustl.edu 37 19 37398926 37398926 + Missense_Mutation SNP C C G TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 19 37398926 37398926 C G SNP ZNF829 ENST00000520965 human ensembl 69_37n -1 known missense c.467 p.G156A 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF829 HGNC ENSG00000185869 70 0 0.00 41 16 28.07 - - - ZSWIM4 0 genome.wustl.edu 37 19 13934173 13934173 + Missense_Mutation SNP G G A TCGA-E9-A1NA-01A-11D-A142-09 TCGA-E9-A1NA-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a3d223eb-20e6-40b9-9f07-e5f865bd2439 6c9a17cd-a638-47f4-ba5d-3ec57d96b56e 19 13934173 13934173 G A SNP ZSWIM4 ENST00000254323 human ensembl 69_37n +1 known missense c.1723 p.E575K 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 25 0 0.00 20 9 31.03 - - -