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 ADAMTS19 0 genome.wustl.edu 37 5 129030517 129030517 + Nonsense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 5 129030517 129030517 C T SNP ADAMTS19 ENST00000274487 human ensembl 69_37n +1 known nonsense c.2905 p.R969* 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 60 0 0.00 59 23 28.05 - - - ADRA1A 0 genome.wustl.edu 37 8 26722154 26722154 + Silent SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 8 26722154 26722154 G A SNP ADRA1A ENST00000380586 human ensembl 69_37n -1 known silent c.333 p.T111 0.521 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrene_rcpt_A1Cs,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC ENSG00000120907 38 0 0.00 7 26 78.79 - - - AKAP8L 0 genome.wustl.edu 37 19 15512077 15512077 + Frame_Shift_Del DEL G G - TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 19 15512077 15512077 G - DEL AKAP8L ENST00000397410 human ensembl 69_37n -1 known frame_shift_del c.700 p.Q234fs 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 28 0 0.00 17 3 15.00 - - - AQP7 0 genome.wustl.edu 37 9 33395134 33395135 + Frame_Shift_Ins INS - - CC TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 9 33395134 33395135 - CC INS AQP7 ENST00000297988 human ensembl 69_37n -1 known frame_shift_ins c.86_85 p.L29fs 0.007:0.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_Aquaporin - no_errors AQP7 HGNC ENSG00000165269 89 0 0.00 66 11 14.29 - - - ATP10B 0 genome.wustl.edu 37 5 160033805 160033805 + Nonsense_Mutation SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 5 160033805 160033805 G A SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known nonsense c.3127 p.R1043* 1.000 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_errors ATP10B HGNC ENSG00000118322 56 0 0.00 42 15 25.86 - - - BOC 0 genome.wustl.edu 37 3 112969456 112969456 + Missense_Mutation SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 3 112969456 112969456 G A SNP BOC ENST00000273395 human ensembl 69_37n +1 known missense c.152 p.G51D 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,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 BOC HGNC ENSG00000144857 53 0 0.00 67 16 19.28 - - - C1orf35 0 genome.wustl.edu 37 1 228289842 228289843 + Frame_Shift_Ins INS - - C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 1 228289842 228289843 - C INS C1orf35 ENST00000272139 human ensembl 69_37n -1 known frame_shift_ins c.472_471 p.P157fs 0.000:0.000 NULL pfam_Kinase_phosphorylation_domain - no_errors C1orf35 HGNC ENSG00000143793 8 0 0.00 4 2 33.33 - - - CROCCP2 0 genome.wustl.edu 37 1 16946535 16946535 + Splice_Site SNP T T C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 1 16946535 16946535 T C SNP CROCCP2 ENST00000540383 human ensembl 69_37n -1 known splice_site c.NULL NULL 0.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 16 0 0.00 10 5 33.33 - - - CTTNBP2 0 genome.wustl.edu 37 7 117375356 117375356 + Missense_Mutation SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 7 117375356 117375356 G A SNP CTTNBP2 ENST00000160373 human ensembl 69_37n -1 known missense c.3655 p.R1219C 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 38 0 0.00 49 22 30.99 - - - CYB5R1 0 genome.wustl.edu 37 1 202936357 202936357 + RNA SNP A A C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 1 202936357 202936357 A C SNP CYB5R1 ENST00000473599 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CYB5R1 HGNC ENSG00000159348 13 0 0.00 5 6 54.55 - - - DMD 0 genome.wustl.edu 37 X 32366618 32366618 + Missense_Mutation SNP G G T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 X 32366618 32366618 G T SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.5353 p.Q1785K 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 111 0 0.00 133 22 14.19 - - - FAM70A 0 genome.wustl.edu 37 X 119421019 119421019 + Missense_Mutation SNP T T C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 X 119421019 119421019 T C SNP FAM70A ENST00000309720 human ensembl 69_37n -1 known missense c.413 p.E138G 1.000 NULL NULL - no_errors FAM70A HGNC ENSG00000125355 82 0 0.00 53 23 30.26 - - - FAM75D1 0 genome.wustl.edu 37 9 84607812 84607812 + Missense_Mutation SNP G G T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 9 84607812 84607812 G T SNP FAM75D1 ENST00000344803 human ensembl 69_37n +1 known missense c.2427 p.M809I 0.000 NULL NULL - no_errors FAM75D1 HGNC ENSG00000214929 37 0 0.00 98 13 11.71 - - - FARS2 0 genome.wustl.edu 37 6 5545516 5545516 + Silent SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 6 5545516 5545516 C T SNP FARS2 ENST00000274680 human ensembl 69_37n +1 known silent c.1008 p.D336 0.986 pfam_Phenylalanyl-tRNA_Synthase,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 63 0 0.00 57 25 30.49 - - - FBN2 0 genome.wustl.edu 37 5 127685051 127685051 + Missense_Mutation SNP G G C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 5 127685051 127685051 G C SNP FBN2 ENST00000262464 human ensembl 69_37n -1 known missense c.2977 p.R993G 1.000 pirsf_Fibrillin,pfam_EGF-like_Ca-bd,superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 29 0 0.00 42 11 20.75 - - - GNL3L 0 genome.wustl.edu 37 X 54569444 54569444 + Silent SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 X 54569444 54569444 G A SNP GNL3L ENST00000336470 human ensembl 69_37n +1 known silent c.363 p.R121 0.997 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 56 0 0.00 77 40 34.19 - - - GRASP 0 genome.wustl.edu 37 12 52407973 52407973 + Missense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 12 52407973 52407973 C T SNP GRASP ENST00000293662 human ensembl 69_37n +1 known missense c.670 p.R224W 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRASP HGNC ENSG00000161835 64 0 0.00 65 29 30.85 - - - GRIN2C 0 genome.wustl.edu 37 17 72846369 72846369 + Silent SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 17 72846369 72846369 G A SNP GRIN2C ENST00000293190 human ensembl 69_37n -1 known silent c.1467 p.G489 0.856 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 24 0 0.00 13 6 31.58 - - - H2BFM 0 genome.wustl.edu 37 X 103294608 103294608 + Missense_Mutation SNP T T C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 X 103294608 103294608 T C SNP H2BFM ENST00000243297 human ensembl 69_37n +1 known missense c.374 p.I125T 0.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFM HGNC ENSG00000101812 14 0 0.00 14 9 39.13 - - - HS3ST4 0 genome.wustl.edu 37 16 26147331 26147331 + Missense_Mutation SNP A A C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 16 26147331 26147331 A C SNP HS3ST4 ENST00000331351 human ensembl 69_37n +1 known missense c.1133 p.K378T 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST4 HGNC ENSG00000182601 29 0 0.00 50 11 18.03 - - - IL17RE 0 genome.wustl.edu 37 3 9956194 9956194 + Silent SNP T T C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 3 9956194 9956194 T C SNP IL17RE ENST00000454190 human ensembl 69_37n +1 known silent c.1332 p.D444 0.000 NULL NULL - no_errors IL17RE HGNC ENSG00000163701 28 0 0.00 20 36 63.16 - - - ITGA3 0 genome.wustl.edu 37 17 48166523 48166523 + Missense_Mutation SNP A A G TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 17 48166523 48166523 A G SNP ITGA3 ENST00000007722 human ensembl 69_37n +1 novel missense c.3095 p.H1032R 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 43 0 0.00 72 16 18.18 - - - KY 0 genome.wustl.edu 37 3 134323234 134323234 + Silent SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 3 134323234 134323234 C T SNP KY ENST00000423778 human ensembl 69_37n -1 known silent c.1173 p.G391 1.000 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 27 0 0.00 8 17 68.00 - - - LCN8 0 genome.wustl.edu 37 9 139650268 139650269 + RNA INS - - CA TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 9 139650268 139650269 - CA INS LCN8 ENST00000482893 human ensembl 69_37n -1 known rna NULL NULL 0.005:0.005 - - - no_errors LCN8 HGNC ENSG00000204001 11 0 0.00 2 2 50.00 - - - MAST1 0 genome.wustl.edu 37 19 12962989 12962989 + Missense_Mutation SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 19 12962989 12962989 G A SNP MAST1 ENST00000251472 human ensembl 69_37n +1 known missense c.937 p.G313S 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC ENSG00000105613 27 0 0.00 22 10 31.25 - - - MOCS1 0 genome.wustl.edu 37 6 39874865 39874865 + Silent SNP T T G TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 6 39874865 39874865 T G SNP MOCS1 ENST00000340692 human ensembl 69_37n -1 known silent c.1179 p.P393 1.000 NULL pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 12 0 0.00 17 8 32.00 - - - MRPS27 0 genome.wustl.edu 37 5 71616019 71616019 + Missense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 5 71616019 71616019 C T SNP MRPS27 ENST00000513900 human ensembl 69_37n -1 known missense c.30 p.M10I 0.000 pfam_Ribosomal_S27_mit pfam_Ribosomal_S27_mit - no_errors MRPS27 HGNC ENSG00000113048 46 0 0.00 32 11 25.58 - - - NCF2 0 genome.wustl.edu 37 1 183556058 183556058 + Nonsense_Mutation SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 1 183556058 183556058 G A SNP NCF2 ENST00000367535 human ensembl 69_37n -1 known nonsense c.229 p.R77* 0.946 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_SH3_domain,pfam_SH3_2,pfam_TPR-1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain - no_errors NCF2 HGNC ENSG00000116701 49 0 0.00 73 31 29.52 - - - OR52K1 0 genome.wustl.edu 37 11 4510284 4510284 + Nonsense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 11 4510284 4510284 C T SNP OR52K1 ENST00000307632 human ensembl 69_37n +1 known nonsense c.154 p.Q52* 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR52K1 HGNC ENSG00000196778 111 0 0.00 131 44 25.14 - - - PCDHB8 0 genome.wustl.edu 37 5 140558070 140558070 + Missense_Mutation SNP C C A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 5 140558070 140558070 C A SNP PCDHB8 ENST00000239444 human ensembl 69_37n +1 known missense c.455 p.A152E 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 68 0 0.00 41 20 32.79 - - - PDE12 0 genome.wustl.edu 37 3 57542637 57542637 + Frame_Shift_Del DEL C C - TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 3 57542637 57542637 C - DEL PDE12 ENST00000311180 human ensembl 69_37n +1 known frame_shift_del c.531 p.P178fs 1.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 26 0 0.00 25 9 26.47 - - - PIK3CA 0 genome.wustl.edu 37 3 178916924 178916924 + Missense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 3 178916924 178916924 C T SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.311 p.P104L 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 27 0 0.00 19 31 62.00 - - - PKHD1L1 0 genome.wustl.edu 37 8 110527447 110527447 + Missense_Mutation SNP T T C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 8 110527447 110527447 T C SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.11602 p.Y3868H 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 83 0 0.00 371 179 32.55 - - - PLA2G4D 0 genome.wustl.edu 37 15 42374005 42374005 + Missense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 15 42374005 42374005 C T SNP PLA2G4D ENST00000290472 human ensembl 69_37n -1 known missense c.811 p.A271T 0.260 smart_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 53 0 0.00 26 15 36.59 - - - PRRX1 0 genome.wustl.edu 37 1 170695530 170695530 + Missense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 1 170695530 170695530 C T SNP PRRX1 ENST00000239461 human ensembl 69_37n +1 known missense c.587 p.A196V 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC ENSG00000116132 28 0 0.00 21 8 27.59 - - - PTPRD 0 genome.wustl.edu 37 9 8504378 8504378 + Missense_Mutation SNP A A G TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 9 8504378 8504378 A G SNP PTPRD ENST00000356435 human ensembl 69_37n -1 known missense c.1705 p.S569P 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 145 0 0.00 28 37 56.92 - - - PTPRZ1 0 genome.wustl.edu 37 7 121695126 121695126 + Silent SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 7 121695126 121695126 C T SNP PTPRZ1 ENST00000393386 human ensembl 69_37n +1 known silent c.6513 p.I2171 0.999 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a - no_errors PTPRZ1 HGNC ENSG00000106278 37 0 0.00 41 12 22.64 - - - QSOX1 0 genome.wustl.edu 37 1 180135688 180135688 + Missense_Mutation SNP T T A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 1 180135688 180135688 T A SNP QSOX1 ENST00000367602 human ensembl 69_37n +1 known missense c.328 p.C110S 0.986 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 49 0 0.00 51 11 17.74 - - - RHPN2 0 genome.wustl.edu 37 19 33490500 33490500 + Missense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 19 33490500 33490500 C T SNP RHPN2 ENST00000254260 human ensembl 69_37n -1 known missense c.1217 p.R406Q 0.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 63 0 0.00 43 5 10.42 - - - RPGR 0 genome.wustl.edu 37 X 38146589 38146589 + Missense_Mutation SNP T T C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 X 38146589 38146589 T C SNP RPGR ENST00000339363 human ensembl 69_37n -1 known missense c.2278 p.K760E 0.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 14 0 0.00 2 7 77.78 - - - RYR3 0 genome.wustl.edu 37 15 33872233 33872233 + Missense_Mutation SNP C C A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 15 33872233 33872233 C A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.1325 p.T442N 1.000 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 45 0 0.00 22 19 46.34 - - - SECISBP2 0 genome.wustl.edu 37 9 91934622 91934622 + Missense_Mutation SNP A A G TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 9 91934622 91934622 A G SNP SECISBP2 ENST00000375807 human ensembl 69_37n +1 known missense c.92 p.N31S 0.008 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 87 0 0.00 109 37 25.34 - - - SLC7A9 0 genome.wustl.edu 37 19 33355671 33355671 + Silent SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 19 33355671 33355671 G A SNP SLC7A9 ENST00000023064 human ensembl 69_37n -1 known silent c.99 p.I33 0.991 pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 60 0 0.00 27 17 38.64 - - - SPTA1 0 genome.wustl.edu 37 1 158627369 158627369 + Missense_Mutation SNP G G T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 1 158627369 158627369 G T SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.2703 p.F901L 1.000 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 80 0 0.00 74 19 20.43 - - - STX10 0 genome.wustl.edu 37 19 13255448 13255448 + Missense_Mutation SNP G G C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 19 13255448 13255448 G C SNP STX10 ENST00000587230 human ensembl 69_37n -1 known missense c.616 p.Q206E 0.993 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX10 HGNC ENSG00000104915 43 0 0.00 40 11 21.15 - - - TRIM49 0 genome.wustl.edu 37 11 89531780 89531780 + Missense_Mutation SNP G G C TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 11 89531780 89531780 G C SNP TRIM49 ENST00000329758 human ensembl 69_37n -1 known missense c.877 p.H293D 0.033 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49 HGNC ENSG00000168930 23 0 0.00 8 4 33.33 - - - TRIP6 0 genome.wustl.edu 37 7 100470878 100470878 + Missense_Mutation SNP G G A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 7 100470878 100470878 G A SNP TRIP6 ENST00000200457 human ensembl 69_37n +1 known missense c.1384 p.A462T 1.000 pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 34 0 0.00 20 6 23.08 - - - TRPC4 0 genome.wustl.edu 37 13 38213437 38213437 + Splice_Site SNP C C G TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 13 38213437 38213437 C G SNP TRPC4 ENST00000379681 human ensembl 69_37n -1 known splice_site c.2095-1 e8-1 1.000 - - - no_errors TRPC4 HGNC ENSG00000133107 72 0 0.00 54 71 56.80 - - - TUBGCP3 0 genome.wustl.edu 37 13 113140381 113140381 + Missense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 13 113140381 113140381 C T SNP TUBGCP3 ENST00000261965 human ensembl 69_37n -1 known missense c.2650 p.E884K 1.000 NULL pfam_Spc97_Spc98 - no_errors TUBGCP3 HGNC ENSG00000126216 43 0 0.00 28 9 24.32 - - - UNC5B 0 genome.wustl.edu 37 10 73044530 73044530 + Missense_Mutation SNP C C A TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 10 73044530 73044530 C A SNP UNC5B ENST00000335350 human ensembl 69_37n +1 known missense c.358 p.L120I 1.000 smart_Ig_sub pfam_ZU5,pfam_Ig_I-set,pfam_Death,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5B HGNC ENSG00000107731 40 0 0.00 19 14 42.42 - - - USP1 0 genome.wustl.edu 37 1 62910497 62910497 + Nonsense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a9c0873-f496-48a4-853c-2b41b2dbaa9e 56e80c27-e4b1-4c17-a104-61ae05c5ce82 1 62910497 62910497 C T SNP USP1 ENST00000339950 human ensembl 69_37n +1 known nonsense c.646 p.Q216* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC ENSG00000162607 25 0 0.00 21 7 25.00 - - -