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 ABCA10 0 genome.wustl.edu 37 17 67190107 67190107 + Nonsense_Mutation SNP G G A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 17 67190107 67190107 G A SNP ABCA10 ENST00000269081 human ensembl 69_37n -1 known nonsense c.1369 p.Q457* 0.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 69 0 0.00 74 29 28.16 - - - ATP1A4 0 genome.wustl.edu 37 1 160134150 160134150 + Missense_Mutation SNP C C G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 1 160134150 160134150 C G SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known missense c.983 p.A328G 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 80 0 0.00 103 29 21.97 - - - ATP9A 0 genome.wustl.edu 37 20 50238636 50238636 + Missense_Mutation SNP G G T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 20 50238636 50238636 G T SNP ATP9A ENST00000338821 human ensembl 69_37n -1 known missense c.2092 p.Q698K 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl 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_errors ATP9A HGNC ENSG00000054793 46 0 0.00 74 17 18.68 - - - ATXN1 0 genome.wustl.edu 37 6 16326909 16326909 + Missense_Mutation SNP G G T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 6 16326909 16326909 G T SNP ATXN1 ENST00000244769 human ensembl 69_37n -1 known missense c.1633 p.P545T 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 22 0 0.00 19 9 32.14 - - - AWAT2 0 genome.wustl.edu 37 X 69263413 69263413 + Missense_Mutation SNP C C A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f X 69263413 69263413 C A SNP AWAT2 ENST00000276101 human ensembl 69_37n -1 known missense c.387 p.K129N 0.998 pfam_DAGAT pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 50 0 0.00 29 19 39.58 - - - BRWD3 0 genome.wustl.edu 37 X 79999555 79999555 + Silent SNP A A G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f X 79999555 79999555 A G SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known silent c.789 p.H263 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 45 0 0.00 39 24 38.10 - - - C5 0 genome.wustl.edu 37 9 123789552 123789552 + Missense_Mutation SNP T T A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 9 123789552 123789552 T A SNP C5 ENST00000223642 human ensembl 69_37n -1 known missense c.759 p.R253S 1.000 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C5 HGNC ENSG00000106804 73 0 0.00 56 29 34.12 - - - CCDC60 0 genome.wustl.edu 37 12 119966483 119966483 + Silent SNP G G A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 12 119966483 119966483 G A SNP CCDC60 ENST00000327554 human ensembl 69_37n +1 known silent c.1293 p.K431 1.000 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 46 0 0.00 28 11 28.21 - - - CEP85 0 genome.wustl.edu 37 1 26582252 26582252 + Missense_Mutation SNP T T G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 1 26582252 26582252 T G SNP CEP85 ENST00000252992 human ensembl 69_37n +1 known missense c.799 p.W267G 1.000 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 16 0 0.00 19 7 26.92 - - - CHPT1 0 genome.wustl.edu 37 12 102117039 102117039 + Missense_Mutation SNP A A C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 12 102117039 102117039 A C SNP CHPT1 ENST00000229266 human ensembl 69_37n +1 known missense c.874 p.K292Q 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 83 0 0.00 79 41 34.17 - - - CX3CR1 0 genome.wustl.edu 37 3 39306996 39306997 + Frame_Shift_Del DEL TC TC - TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 3 39306996 39306997 TC - DEL CX3CR1 ENST00000358309 human ensembl 69_37n -1 known frame_shift_del c.1101_1100 p.G367fs 0.002:0.002 prints_Chemokine_fractalkine_CX3CR1 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_fractalkine_CX3CR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 21 0 0.00 13 8 38.10 - - - CX3CR1 0 genome.wustl.edu 37 3 39307000 39307000 + Frame_Shift_Del DEL T T - TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 3 39307000 39307000 T - DEL CX3CR1 ENST00000358309 human ensembl 69_37n -1 known frame_shift_del c.1097 p.H366fs 0.003 prints_Chemokine_fractalkine_CX3CR1 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_fractalkine_CX3CR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 23 0 0.00 12 8 36.36 - - - ERC1 0 genome.wustl.edu 37 12 1517405 1517405 + Missense_Mutation SNP C C G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 12 1517405 1517405 C G SNP ERC1 ENST00000360905 human ensembl 69_37n +1 known missense c.3016 p.P1006A 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 49 0 0.00 47 20 29.85 - - - FIGLA 0 genome.wustl.edu 37 2 71012744 71012744 + Missense_Mutation SNP T T C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 2 71012744 71012744 T C SNP FIGLA ENST00000332372 human ensembl 69_37n -1 known missense c.412 p.S138G 0.120 superfamily_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors FIGLA HGNC ENSG00000183733 106 0 0.00 86 22 20.18 - - - GIMAP6 0 genome.wustl.edu 37 7 150325382 150325382 + Missense_Mutation SNP G G T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 7 150325382 150325382 G T SNP GIMAP6 ENST00000328902 human ensembl 69_37n -1 known missense c.304 p.P102T 0.805 pfam_AIG1 pfam_AIG1 - no_errors GIMAP6 HGNC ENSG00000133561 30 0 0.00 29 7 19.44 - - - GLI2 0 genome.wustl.edu 37 2 121685040 121685040 + Missense_Mutation SNP C C G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 2 121685040 121685040 C G SNP GLI2 ENST00000361492 human ensembl 69_37n +1 known missense c.252 p.H84Q 0.904 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 35 0 0.00 22 16 42.11 - - - GPR144 0 genome.wustl.edu 37 9 127218946 127218946 + Missense_Mutation SNP G G A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 9 127218946 127218946 G A SNP GPR144 ENST00000334810 human ensembl 69_37n +1 known missense c.1495 p.A499T 0.957 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,prints_Pentaxin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR144 HGNC ENSG00000180264 14 0 0.00 21 6 22.22 - - - GSK3A 0 genome.wustl.edu 37 19 42744148 42744148 + Missense_Mutation SNP G G C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 19 42744148 42744148 G C SNP GSK3A ENST00000222330 human ensembl 69_37n -1 known missense c.430 p.L144V 0.999 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 GSK3A HGNC ENSG00000105723 42 0 0.00 38 17 30.91 - - - GTF2IRD2P1 0 genome.wustl.edu 37 7 72658429 72658429 + RNA SNP G G A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 7 72658429 72658429 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 69_37n -1 known rna NULL NULL 0.982 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 68 0 0.00 70 33 32.04 - - - HIST1H2AI 0 genome.wustl.edu 37 6 27776320 27776320 + Missense_Mutation SNP C C A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 6 27776320 27776320 C A SNP HIST1H2AI ENST00000358739 human ensembl 69_37n +1 known missense c.333 p.N111K 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC ENSG00000196747 49 0 0.00 35 17 32.69 - - - HIST1H2BE 0 genome.wustl.edu 37 6 26184396 26184397 + In_Frame_Ins INS - - TGG TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 6 26184396 26184397 - TGG INS HIST1H2BE ENST00000356530 human ensembl 69_37n +1 known in_frame_ins c.373_374 p.S125in_frame_insLA 1.000:1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BE HGNC ENSG00000197697 33 0 0.00 19 6 24.00 - - - IQGAP2 0 genome.wustl.edu 37 5 75970488 75970488 + Missense_Mutation SNP C C T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 5 75970488 75970488 C T SNP IQGAP2 ENST00000274364 human ensembl 69_37n +1 known missense c.3481 p.L1161F 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP 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 28 0 0.00 15 15 50.00 - - - ITGAX 0 genome.wustl.edu 37 16 31384615 31384615 + Silent SNP A A G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 16 31384615 31384615 A G SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known silent c.2412 p.E804 0.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAX HGNC ENSG00000140678 21 0 0.00 20 8 28.57 - - - ITIH2 0 genome.wustl.edu 37 10 7773943 7773943 + Missense_Mutation SNP T T C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 10 7773943 7773943 T C SNP ITIH2 ENST00000358415 human ensembl 69_37n +1 known missense c.1631 p.V544A 0.342 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 53 0 0.00 35 20 36.36 - - - KBTBD4 0 genome.wustl.edu 37 11 47599443 47599444 + Frame_Shift_Ins INS - - A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 11 47599443 47599444 - A INS KBTBD4 ENST00000430070 human ensembl 69_37n -1 known frame_shift_ins c.157_156 p.L52fs 1.000:1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 33 0 0.00 27 5 15.62 - - - KIAA0319 0 genome.wustl.edu 37 6 24559272 24559272 + Missense_Mutation SNP C C G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 6 24559272 24559272 C G SNP KIAA0319 ENST00000378214 human ensembl 69_37n -1 known missense c.2703 p.L901F 1.000 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 37 0 0.00 33 11 25.00 - - - LILRA6 0 genome.wustl.edu 37 19 54745496 54745496 + Missense_Mutation SNP C C T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 19 54745496 54745496 C T SNP LILRA6 ENST00000270464 human ensembl 69_37n -1 known missense c.614 p.R205Q 0.036 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRA6 HGNC ENSG00000244482 22 0 0.00 14 6 30.00 - - - LIN9 0 genome.wustl.edu 37 1 226426761 226426761 + Silent SNP G G T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 1 226426761 226426761 G T SNP LIN9 ENST00000328205 human ensembl 69_37n -1 known silent c.1204 p.R402 1.000 NULL pfam_DIRP - no_errors LIN9 HGNC ENSG00000183814 65 0 0.00 52 45 46.39 - - - LNX2 0 genome.wustl.edu 37 13 28134091 28134091 + Missense_Mutation SNP G G T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 13 28134091 28134091 G T SNP LNX2 ENST00000316334 human ensembl 69_37n -1 known missense c.1256 p.A419D 0.996 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 115 0 0.00 89 50 35.97 - - - LYST 0 genome.wustl.edu 37 1 235891402 235891402 + Missense_Mutation SNP T T C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 1 235891402 235891402 T C SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.9136 p.N3046D 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 55 0 0.00 59 22 27.16 - - - MAP3K13 0 genome.wustl.edu 37 3 185165736 185165736 + Splice_Site SNP G G A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 3 185165736 185165736 G A SNP MAP3K13 ENST00000265026 human ensembl 69_37n +1 known splice_site c.1010+1 e4+1 1.000 - - - no_errors MAP3K13 HGNC ENSG00000073803 26 0 0.00 23 8 25.81 - - - MAP3K6 0 genome.wustl.edu 37 1 27682955 27682955 + Nonsense_Mutation SNP G G C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 1 27682955 27682955 G C SNP MAP3K6 ENST00000357582 human ensembl 69_37n -1 known nonsense c.3561 p.Y1187* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K6 HGNC ENSG00000142733 21 0 0.00 10 10 50.00 - - - MLL 0 genome.wustl.edu 37 11 118344574 118344575 + Frame_Shift_Ins INS - - TAAA TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 11 118344574 118344575 - TAAA INS MLL ENST00000389506 human ensembl 69_37n +1 known frame_shift_ins c.2700_2701 p.S900fs 1.000:1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 89 0 0.00 22 16 42.11 - - - MOGAT3 0 genome.wustl.edu 37 7 100842014 100842014 + Missense_Mutation SNP G G C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 7 100842014 100842014 G C SNP MOGAT3 ENST00000440203 human ensembl 69_37n -1 known missense c.386 p.T129S 0.955 pfam_DAGAT pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 26 0 0.00 14 11 44.00 - - - NSFL1C 0 genome.wustl.edu 37 20 1435746 1435746 + Missense_Mutation SNP G G C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 20 1435746 1435746 G C SNP NSFL1C ENST00000350991 human ensembl 69_37n -1 known missense c.316 p.Q106E 1.000 NULL pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC ENSG00000088833 63 0 0.00 69 19 21.59 - - - NTRK2 0 genome.wustl.edu 37 9 87563383 87563383 + Nonsense_Mutation SNP A A T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 9 87563383 87563383 A T SNP NTRK2 ENST00000277120 human ensembl 69_37n +1 known nonsense c.1771 p.K591* 1.000 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,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,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 35 0 0.00 28 6 17.65 - - - ONECUT2 0 genome.wustl.edu 37 18 55103476 55103477 + In_Frame_Ins INS - - CAC TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 18 55103476 55103477 - CAC INS ONECUT2 ENST00000262095 human ensembl 69_37n +1 known in_frame_ins c.528_529 p.180in_frame_insH 0.715:1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 16 0 0.00 21 10 32.26 - - - PARP4 0 genome.wustl.edu 37 13 25058867 25058867 + Missense_Mutation SNP C C T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 13 25058867 25058867 C T SNP PARP4 ENST00000381989 human ensembl 69_37n -1 known missense c.1372 p.V458I 0.992 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 48 0 0.00 37 5 11.90 - - - PHKA2 0 genome.wustl.edu 37 X 18942252 18942252 + Missense_Mutation SNP G G T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f X 18942252 18942252 G T SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known missense c.1715 p.T572K 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 29 0 0.00 29 9 23.68 - - - RBM46 0 genome.wustl.edu 37 4 155719029 155719029 + Missense_Mutation SNP A A T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 4 155719029 155719029 A T SNP RBM46 ENST00000281722 human ensembl 69_37n +1 known missense c.218 p.Y73F 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 79 0 0.00 65 27 29.35 - - - RHBDF2 0 genome.wustl.edu 37 17 74470176 74470176 + Missense_Mutation SNP T T C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 17 74470176 74470176 T C SNP RHBDF2 ENST00000313080 human ensembl 69_37n -1 known missense c.1600 p.M534V 0.984 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 23 0 0.00 16 9 36.00 - - - RNASEK 0 genome.wustl.edu 37 17 6917541 6917541 + Missense_Mutation SNP T T C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 17 6917541 6917541 T C SNP RNASEK ENST00000548577 human ensembl 69_37n +1 known missense c.350 p.L117P 1.000 NULL NULL - no_errors RNASEK HGNC ENSG00000219200 26 0 0.00 17 11 39.29 - - - ROCK1 0 genome.wustl.edu 37 18 18586456 18586456 + Missense_Mutation SNP G G C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 18 18586456 18586456 G C SNP ROCK1 ENST00000399799 human ensembl 69_37n -1 known missense c.1741 p.L581V 1.000 pirsf_Rho-assoc_coiled-coil_kinase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ENSG00000067900 63 0 0.00 53 29 35.37 - - - SART3 0 genome.wustl.edu 37 12 108920132 108920132 + Missense_Mutation SNP G G A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 12 108920132 108920132 G A SNP SART3 ENST00000228284 human ensembl 69_37n -1 known missense c.2114 p.T705I 0.998 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 34 0 0.00 22 33 60.00 - - - SLC3A2 0 genome.wustl.edu 37 11 62652118 62652118 + Silent SNP C C T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 11 62652118 62652118 C T SNP SLC3A2 ENST00000377892 human ensembl 69_37n +1 known silent c.1170 p.F390 0.102 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 96 0 0.00 64 30 31.91 - - - TMEM86A 0 genome.wustl.edu 37 11 18723330 18723330 + Missense_Mutation SNP G G C TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 11 18723330 18723330 G C SNP TMEM86A ENST00000280734 human ensembl 69_37n +1 known missense c.497 p.R166P 1.000 pfam_YhhN pfam_YhhN - no_errors TMEM86A HGNC ENSG00000151117 27 0 0.00 24 14 36.84 - - - TNFSF4 0 genome.wustl.edu 37 1 173157660 173157660 + Missense_Mutation SNP C C T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 1 173157660 173157660 C T SNP TNFSF4 ENST00000281834 human ensembl 69_37n -1 known missense c.202 p.E68K 0.009 superfamily_Tumour_necrosis_fac-like,smart_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF - no_errors TNFSF4 HGNC ENSG00000117586 50 0 0.00 70 21 23.08 - - - TRIM50 0 genome.wustl.edu 37 7 72727112 72727112 + Silent SNP G G T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 7 72727112 72727112 G T SNP TRIM50 ENST00000333149 human ensembl 69_37n -1 known silent c.1269 p.G423 0.034 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 9 0 0.00 11 4 26.67 - - - TRIM64B 0 genome.wustl.edu 37 11 89608899 89608899 + Missense_Mutation SNP T T G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 11 89608899 89608899 T G SNP TRIM64B ENST00000329862 human ensembl 69_37n -1 known missense c.287 p.E96A 0.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM64B HGNC ENSG00000189253 15 0 0.00 3 3 50.00 - - - TTC17 0 genome.wustl.edu 37 11 43411360 43411360 + Silent SNP C C T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 11 43411360 43411360 C T SNP TTC17 ENST00000039989 human ensembl 69_37n +1 known silent c.408 p.S136 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 43 0 0.00 44 32 42.11 - - - TTLL5 0 genome.wustl.edu 37 14 76246009 76246011 + In_Frame_Del DEL AAC AAC - TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 14 76246009 76246011 AAC - DEL TTLL5 ENST00000298832 human ensembl 69_37n +1 known in_frame_del c.2479_2481 p.N830in_frame_del 0.983:1.000:1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC ENSG00000119685 67 0 0.00 31 28 47.46 - - - ULK2 0 genome.wustl.edu 37 17 19699025 19699025 + Missense_Mutation SNP C C T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 17 19699025 19699025 C T SNP ULK2 ENST00000361658 human ensembl 69_37n -1 known missense c.2011 p.G671R 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 75 0 0.00 72 27 27.00 - - - USP1 0 genome.wustl.edu 37 1 62905637 62905637 + Silent SNP T T G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 1 62905637 62905637 T G SNP USP1 ENST00000339950 human ensembl 69_37n +1 known silent c.99 p.T33 0.997 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC ENSG00000162607 29 0 0.00 29 19 39.58 - - - WDR33 0 genome.wustl.edu 37 2 128526530 128526530 + Missense_Mutation SNP G G A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 2 128526530 128526530 G A SNP WDR33 ENST00000322313 human ensembl 69_37n -1 known missense c.250 p.P84S 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 53 0 0.00 45 28 37.84 - - - WWC3 0 genome.wustl.edu 37 X 10102560 10102560 + Missense_Mutation SNP C C G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f X 10102560 10102560 C G SNP WWC3 ENST00000380861 human ensembl 69_37n +1 known missense c.2687 p.S896W 0.336 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors WWC3 HGNC ENSG00000047644 47 0 0.00 27 37 57.81 - - - ZNF16 0 genome.wustl.edu 37 8 146157623 146157623 + Missense_Mutation SNP C C T TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 8 146157623 146157623 C T SNP ZNF16 ENST00000276816 human ensembl 69_37n -1 known missense c.550 p.D184N 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 30 0 0.00 44 10 18.18 - - - ZNF546 0 genome.wustl.edu 37 19 40520249 40520249 + Missense_Mutation SNP G G A TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8dce6a9d-ecb7-4699-9fda-1b09b1b1de43 17b3d764-49f2-4ba6-ac9e-44619e31943f 19 40520249 40520249 G A SNP ZNF546 ENST00000347077 human ensembl 69_37n +1 known missense c.1072 p.E358K 0.044 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 ZNF546 HGNC ENSG00000187187 47 0 0.00 50 25 33.33 - - -