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 ABLIM2 0 genome.wustl.edu 37 4 8089995 8089996 + Frame_Shift_Ins INS - - G TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 4 8089995 8089996 - G INS ABLIM2 ENST00000447017 human ensembl 69_37n -1 known frame_shift_ins c.355_354 p.G118fs 1.000:0.001 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 21 0 0.00 24 4 14.29 - - - APC 0 genome.wustl.edu 37 5 112175144 112175144 + Frame_Shift_Del DEL G G - TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 5 112175144 112175144 G - DEL APC ENST00000257430 human ensembl 69_37n +1 known frame_shift_del c.3853 p.D1285fs 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 150 0 0.00 113 58 33.33 - - - C1QTNF4 0 genome.wustl.edu 37 11 47611487 47611487 + Silent SNP G G A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 11 47611487 47611487 G A SNP C1QTNF4 ENST00000302514 human ensembl 69_37n -1 known silent c.876 p.D292 0.962 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF4 HGNC ENSG00000172247 54 0 0.00 32 14 30.43 - - - C5orf42 0 genome.wustl.edu 37 5 37213798 37213798 + Missense_Mutation SNP C C G TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 5 37213798 37213798 C G SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.2783 p.G928A 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 171 0 0.00 81 37 31.36 - - - CELSR1 0 genome.wustl.edu 37 22 46795613 46795613 + Splice_Site SNP C C A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 22 46795613 46795613 C A SNP CELSR1 ENST00000262738 human ensembl 69_37n -1 known splice_site c.5412+1 e10+1 1.000 - - - no_errors CELSR1 HGNC ENSG00000075275 119 0 0.00 43 22 33.85 - - - E2F4 0 genome.wustl.edu 37 16 67229793 67229794 + In_Frame_Ins INS - - CAG TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 16 67229793 67229794 - CAG INS E2F4 ENST00000379378 human ensembl 69_37n +1 known in_frame_ins c.917_918 p.310in_frame_insS 1.000:0.995 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 35 0 0.00 25 10 28.57 - - - EFHB 0 genome.wustl.edu 37 3 19975051 19975051 + Missense_Mutation SNP C C T TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 3 19975051 19975051 C T SNP EFHB ENST00000295824 human ensembl 69_37n -1 known missense c.460 p.V154I 0.000 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHB HGNC ENSG00000163576 136 0 0.00 63 45 41.67 - - - FAM86C2P 0 genome.wustl.edu 37 11 67564238 67564238 + RNA SNP C C T TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 11 67564238 67564238 C T SNP FAM86C2P ENST00000525180 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors FAM86C2P HGNC ENSG00000160172 8 0 0.00 5 6 54.55 - - - FAM86C2P 0 genome.wustl.edu 37 11 67564241 67564241 + RNA SNP C C T TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 11 67564241 67564241 C T SNP FAM86C2P ENST00000525180 human ensembl 69_37n -1 known rna NULL NULL 0.219 - - - no_errors FAM86C2P HGNC ENSG00000160172 8 0 0.00 5 6 54.55 - - - GATA3 0 genome.wustl.edu 37 10 8115873 8115874 + Frame_Shift_Ins INS - - C TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 10 8115873 8115874 - C INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1222_1223 p.P409fs 0.876:0.903 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 74 0 0.00 95 30 24.00 - - - GLI3 0 genome.wustl.edu 37 7 42007317 42007317 + Missense_Mutation SNP C C G TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 7 42007317 42007317 C G SNP GLI3 ENST00000395925 human ensembl 69_37n -1 known missense c.2308 p.A770P 0.972 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 385 0 0.00 144 160 52.46 - - - GOLGA6L10 0 genome.wustl.edu 37 15 82635510 82635510 + Missense_Mutation SNP C C A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 15 82635510 82635510 C A SNP GOLGA6L10 ENST00000439287 human ensembl 69_37n -1 known missense c.1270 p.V424F 0.879 NULL NULL - no_errors GOLGA6L10 HGNC ENSG00000205281 11 0 0.00 8 4 33.33 - - - GPS2 0 genome.wustl.edu 37 17 7217398 7217398 + Splice_Site DEL C C - TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 17 7217398 7217398 C - DEL GPS2 ENST00000380728 human ensembl 69_37n -1 known splice_site_del c.397+1 e4+1 1.000 - - - no_errors GPS2 HGNC ENSG00000132522 340 0 0.00 34 50 56.82 - - - INPPL1 0 genome.wustl.edu 37 11 71948208 71948209 + Frame_Shift_Ins INS - - C TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 11 71948208 71948209 - C INS INPPL1 ENST00000298229 human ensembl 69_37n +1 known frame_shift_ins c.2920_2921 p.P977fs 0.025:0.066 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 29 0 0.00 29 4 12.12 - - - KCNH1 0 genome.wustl.edu 37 1 210857470 210857470 + Missense_Mutation SNP C C T TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 1 210857470 210857470 C T SNP KCNH1 ENST00000271751 human ensembl 69_37n -1 known missense c.2123 p.R708Q 1.000 prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 150 1 0.66 58 27 31.76 - - - LMBR1 0 genome.wustl.edu 37 7 156521383 156521383 + Silent SNP T T C TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 7 156521383 156521383 T C SNP LMBR1 ENST00000354505 human ensembl 69_37n -1 known silent c.993 p.R331 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1 HGNC ENSG00000105983 414 0 0.00 284 81 22.13 - - - MAN1B1 0 genome.wustl.edu 37 9 139995547 139995548 + Frame_Shift_Ins INS - - G TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 9 139995547 139995548 - G INS MAN1B1 ENST00000371589 human ensembl 69_37n +1 known frame_shift_ins c.1007_1008 p.L339fs 1.000:0.999 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 50 0 0.00 30 5 14.29 - - - MAP3K1 0 genome.wustl.edu 37 5 56176548 56176548 + Nonsense_Mutation SNP C C T TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 5 56176548 56176548 C T SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel nonsense c.2098 p.Q700* 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 215 1 0.46 120 51 29.82 - - - MAP3K1 0 genome.wustl.edu 37 5 56189442 56189442 + Frame_Shift_Del DEL C C - TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 5 56189442 56189442 C - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.4474 p.Q1492fs 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,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 131 0 0.00 64 26 27.37 - - - MAPK8IP3 0 genome.wustl.edu 37 16 1798259 1798259 + Missense_Mutation SNP G G T TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 16 1798259 1798259 G T SNP MAPK8IP3 ENST00000250894 human ensembl 69_37n +1 known missense c.1006 p.D336Y 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 25 0 0.00 10 13 56.52 - - - NLRP5 0 genome.wustl.edu 37 19 56538873 56538873 + Missense_Mutation SNP G G A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 19 56538873 56538873 G A SNP NLRP5 ENST00000390649 human ensembl 69_37n +1 known missense c.1274 p.R425H 0.019 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 59 0 0.00 30 13 30.23 - - - NNT 0 genome.wustl.edu 37 5 43702838 43702838 + Missense_Mutation SNP G G C TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 5 43702838 43702838 G C SNP NNT ENST00000264663 human ensembl 69_37n +1 known missense c.3111 p.Q1037H 1.000 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 77 0 0.00 51 26 33.77 - - - OR2F1 0 genome.wustl.edu 37 7 143657386 143657386 + Missense_Mutation SNP G G A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 7 143657386 143657386 G A SNP OR2F1 ENST00000392899 human ensembl 69_37n +1 known missense c.323 p.G108D 0.690 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 OR2F1 HGNC ENSG00000213215 342 0 0.00 219 233 51.55 - - - PNCK 0 genome.wustl.edu 37 X 152937334 152937334 + Splice_Site SNP C C A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 X 152937334 152937334 C A SNP PNCK ENST00000447676 human ensembl 69_37n -1 known splice_site c.663+1 e5+1 1.000 - - - no_errors PNCK HGNC ENSG00000130822 29 0 0.00 38 14 26.92 - - - PRND 0 genome.wustl.edu 37 20 4705266 4705266 + Silent SNP G G A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 20 4705266 4705266 G A SNP PRND ENST00000305817 human ensembl 69_37n +1 known silent c.69 p.A23 0.000 pfam_Doppel pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 35 0 0.00 29 13 30.95 - - - RAD50 0 genome.wustl.edu 37 5 131926953 131926953 + Missense_Mutation SNP T T C TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 5 131926953 131926953 T C SNP RAD50 ENST00000265335 human ensembl 69_37n +1 known missense c.1490 p.V497A 0.996 tigrfam_Rad50 pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 - no_errors RAD50 HGNC ENSG00000113522 112 0 0.00 70 37 34.58 - - - RIN1 0 genome.wustl.edu 37 11 66100832 66100832 + Frame_Shift_Del DEL C C - TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 11 66100832 66100832 C - DEL RIN1 ENST00000311320 human ensembl 69_37n -1 known frame_shift_del c.1772 p.G591fs 0.509 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 12 0 0.00 15 14 46.67 - - - SAMD9 0 genome.wustl.edu 37 7 92733180 92733180 + Missense_Mutation SNP G G C TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 7 92733180 92733180 G C SNP SAMD9 ENST00000379958 human ensembl 69_37n -1 known missense c.2231 p.T744S 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 151 0 0.00 45 24 34.78 - - - SREBF2 0 genome.wustl.edu 37 22 42281016 42281016 + Splice_Site SNP G G A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 22 42281016 42281016 G A SNP SREBF2 ENST00000361204 human ensembl 69_37n +1 known splice_site c.2208+1 e11+1 1.000 - - - no_errors SREBF2 HGNC ENSG00000198911 292 0 0.00 149 97 39.43 - - - STARD8 0 genome.wustl.edu 37 X 67938433 67938433 + Silent SNP C C T TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 X 67938433 67938433 C T SNP STARD8 ENST00000374599 human ensembl 69_37n +1 known silent c.1677 p.R559 0.259 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 87 0 0.00 43 19 30.65 - - - STK25 0 genome.wustl.edu 37 2 242440175 242440175 + Missense_Mutation SNP C C T TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 2 242440175 242440175 C T SNP STK25 ENST00000316586 human ensembl 69_37n -1 known missense c.298 p.G100S 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,prints_Ser-Thr/Tyr_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK25 HGNC ENSG00000115694 33 0 0.00 11 10 47.62 - - - TRIM71 0 genome.wustl.edu 37 3 32933156 32933156 + Missense_Mutation SNP G G T TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 3 32933156 32933156 G T SNP TRIM71 ENST00000383763 human ensembl 69_37n +1 known missense c.2460 p.M820I 1.000 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 36 0 0.00 26 8 23.53 - - - TRIP4 0 genome.wustl.edu 37 15 64701983 64701983 + Missense_Mutation SNP G G A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 15 64701983 64701983 G A SNP TRIP4 ENST00000560475 human ensembl 69_37n +1 putative missense c.67 p.E23K 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRIP4 HGNC ENSG00000103671 198 1 0.50 110 40 26.67 - - - TRO 0 genome.wustl.edu 37 X 54955782 54955782 + Silent SNP G G A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 X 54955782 54955782 G A SNP TRO ENST00000173898 human ensembl 69_37n +1 known silent c.2625 p.T875 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 47 0 0.00 37 12 24.49 - - - UNC13B 0 genome.wustl.edu 37 9 35376118 35376118 + Missense_Mutation SNP C C G TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 9 35376118 35376118 C G SNP UNC13B ENST00000396787 human ensembl 69_37n +1 known missense c.1498 p.P500A 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 56 0 0.00 26 9 25.00 - - - USP42 0 genome.wustl.edu 37 7 6194543 6194546 + Frame_Shift_Del DEL GGCG GGCG - TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 GGCG GGCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 7 6194543 6194546 GGCG - DEL USP42 ENST00000306177 human ensembl 69_37n +1 known frame_shift_del c.3358_3361 p.G1120fs 0.004:0.002:0.001:0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP42 HGNC ENSG00000106346 19 0 0.00 11 4 26.67 - - - VEZF1 0 genome.wustl.edu 37 17 56056604 56056605 + In_Frame_Ins INS - - TGC TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 17 56056604 56056605 - TGC INS VEZF1 ENST00000581208 human ensembl 69_37n -1 known in_frame_ins c.1047_1046 p.353in_frame_insQ 0.934:0.940 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 55 0 0.00 61 7 10.29 - - - ZNF277 0 genome.wustl.edu 37 7 111982649 111982649 + Silent SNP C C G TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 7 111982649 111982649 C G SNP ZNF277 ENST00000361822 human ensembl 69_37n +1 known silent c.1218 p.L406 0.983 NULL pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 66 0 0.00 47 42 47.19 - - - ZNF416 0 genome.wustl.edu 37 19 58083540 58083540 + Missense_Mutation SNP G G A TCGA-B6-A0IM-01A-11W-A050-09 TCGA-B6-A0IM-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e99a4753-10db-4823-953d-e878a90e6b01 c473b5c1-e471-4517-bdaf-6491c768f5c4 19 58083540 58083540 G A SNP ZNF416 ENST00000196489 human ensembl 69_37n -1 known missense c.1732 p.R578C 0.000 NULL 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 ZNF416 HGNC ENSG00000083817 165 0 0.00 67 30 30.93 - - -