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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ABCA7 10347 genome.wustl.edu 37 19 1063796 1063796 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 1063796 1063796 G A SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known missense c.5885 p.R1962H 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ABCB8 11194 genome.wustl.edu 37 7 150730740 150730740 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 150730740 150730740 C T SNP ABCB8 ENST00000297504 human ensembl 70_37 +1 known silent c.195 p.H65 0.854 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB8 HGNC ABRACL 58527 genome.wustl.edu 37 6 139355412 139355412 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 139355412 139355412 G A SNP ABRACL ENST00000461027 human ensembl 70_37 +1 known missense c.115 p.E39K 0.000 NULL NULL - no_errors ABRACL HGNC ACHE 43 genome.wustl.edu 37 7 100490160 100490160 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 100490160 100490160 C T SNP ACHE ENST00000302913 human ensembl 70_37 -1 known missense c.1348 p.A450T 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ACPL2 92370 genome.wustl.edu 37 3 141011882 141011882 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 3 141011882 141011882 C T SNP ACPL2 ENST00000286353 human ensembl 70_37 +1 known silent c.1278 p.V426 0.007 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ADAMTS10 81794 genome.wustl.edu 37 19 8649802 8649802 + Frame_Shift_Del DEL G G - TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 8649802 8649802 G - DEL ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known frame_shift_del c.3179 p.P1060fs 0.030 NULL pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ADAMTSL3 57188 genome.wustl.edu 37 15 84657473 84657473 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 15 84657473 84657473 G A SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known silent c.3747 p.Q1249 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC AFG3L1P 172 genome.wustl.edu 37 16 90060285 90060285 + RNA SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 16 90060285 90060285 C A SNP AFG3L1P ENST00000388970 human ensembl 70_37 +1 known rna NULL NULL 0.029 - - - no_errors AFG3L1P HGNC AIDA 64853 genome.wustl.edu 37 1 222885352 222885352 + RNA SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 222885352 222885352 G C SNP AIDA ENST00000474863 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AIDA HGNC ALOX5 240 genome.wustl.edu 37 10 45924114 45924114 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 10 45924114 45924114 G A SNP ALOX5 ENST00000374391 human ensembl 70_37 +1 known missense c.883 p.A295T 0.994 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX5 HGNC ANKHD1 54882 genome.wustl.edu 37 5 139928631 139928631 + Missense_Mutation SNP A A G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 5 139928631 139928631 A G SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.7820 p.E2607G 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ANKRD18A 253650 genome.wustl.edu 37 9 38620249 38620249 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 9 38620249 38620249 C T SNP ANKRD18A ENST00000399703 human ensembl 70_37 -1 known missense c.34 p.G12S 0.003 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18A HGNC ARHGAP17 55114 genome.wustl.edu 37 16 24942596 24942596 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 16 24942596 24942596 G A SNP ARHGAP17 ENST00000289968 human ensembl 70_37 -1 known missense c.2024 p.P675L 0.993 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ARHGAP9 64333 genome.wustl.edu 37 12 57867943 57867943 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 12 57867943 57867943 C T SNP ARHGAP9 ENST00000356411 human ensembl 70_37 -1 known silent c.1857 p.L619 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC BHLHE22 27319 genome.wustl.edu 37 8 65494020 65494021 + In_Frame_Ins INS - - GCA TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 8 65494020 65494021 - GCA INS BHLHE22 ENST00000321870 human ensembl 70_37 +1 known in_frame_ins c.673_674 p.229in_frame_insS 0.719:0.703 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors BHLHE22 HGNC BRSK2 9024 genome.wustl.edu 37 11 1471062 1471062 + Missense_Mutation SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 1471062 1471062 C A SNP BRSK2 ENST00000382179 human ensembl 70_37 +1 known missense c.1421 p.P474H 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BRSK2 HGNC CAPN3 825 genome.wustl.edu 37 15 42695076 42695076 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 15 42695076 42695076 C T SNP CAPN3 ENST00000397163 human ensembl 70_37 +1 known missense c.1621 p.R541W 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC CBR1 873 genome.wustl.edu 37 21 37443336 37443336 + Silent SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 21 37443336 37443336 C G SNP CBR1 ENST00000290349 human ensembl 70_37 +1 known silent c.378 p.L126 0.994 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR1 HGNC CD19 930 genome.wustl.edu 37 16 28950043 28950043 + Silent SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 16 28950043 28950043 C G SNP CD19 ENST00000538922 human ensembl 70_37 +1 known silent c.1536 p.P512 1.000 NULL smart_Ig_sub,pfscan_Ig-like - no_errors CD19 HGNC CDC73 79577 genome.wustl.edu 37 1 193220216 193220216 + RNA SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 193220216 193220216 G A SNP CDC73 ENST00000477868 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CDC73 HGNC CNGA4 1262 genome.wustl.edu 37 11 6261670 6261670 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 6261670 6261670 C T SNP CNGA4 ENST00000379936 human ensembl 70_37 +1 known missense c.646 p.R216C 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC COQ7 10229 genome.wustl.edu 37 16 19083257 19083257 + Silent SNP A A G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 16 19083257 19083257 A G SNP COQ7 ENST00000321998 human ensembl 70_37 +1 known silent c.81 p.G27 0.028 NULL pfam_Ubq_synth_Coq7,superfamily_Ferritin/RNR-like - no_errors COQ7 HGNC CPT1B 1375 genome.wustl.edu 37 22 51016307 51016307 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 22 51016307 51016307 G A SNP CPT1B ENST00000312108 human ensembl 70_37 -1 known missense c.38 p.T13M 1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1B HGNC CSNK1G2-AS1 255193 genome.wustl.edu 37 19 1952627 1952627 + RNA SNP A A T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 1952627 1952627 A T SNP CSNK1G2-AS1 ENST00000314315 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CSNK1G2-AS1 HGNC CUL4B 8450 genome.wustl.edu 37 X 119674274 119674274 + Silent SNP T T G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 119674274 119674274 T G SNP CUL4B ENST00000404115 human ensembl 70_37 -1 known silent c.1641 p.A547 0.920 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC CWC25 54883 genome.wustl.edu 37 17 36958427 36958427 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 36958427 36958427 G A SNP CWC25 ENST00000225428 human ensembl 70_37 -1 known missense c.1196 p.S399F 1.000 NULL pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC CXorf66 347487 genome.wustl.edu 37 X 139038831 139038831 + Nonsense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 139038831 139038831 G A SNP CXorf66 ENST00000370540 human ensembl 70_37 -1 known nonsense c.310 p.Q104* 0.000 NULL NULL - no_errors CXorf66 HGNC DCC 1630 genome.wustl.edu 37 18 51013194 51013194 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 18 51013194 51013194 C T SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.3764 p.T1255M 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC DCDC5 100506627 genome.wustl.edu 37 11 31263120 31263120 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 31263120 31263120 C T SNP DCDC5 ENST00000597505 human ensembl 70_37 -1 putative silent c.1098 p.L366 1.000 NULL pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC5 HGNC DDHD2 23259 genome.wustl.edu 37 8 38111109 38111109 + Missense_Mutation SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 8 38111109 38111109 G C SNP DDHD2 ENST00000397166 human ensembl 70_37 +1 known missense c.1927 p.E643Q 0.986 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC DEDD 9191 genome.wustl.edu 37 1 161091814 161091815 + RNA INS - - A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 161091814 161091815 - A INS DEDD ENST00000486041 human ensembl 70_37 -1 known rna NULL NULL 0.993:1.000 - - - no_errors DEDD HGNC DEFB4B 100289462 genome.wustl.edu 37 8 7272594 7272594 + Silent SNP A A G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 8 7272594 7272594 A G SNP DEFB4B ENST00000318157 human ensembl 70_37 -1 known silent c.84 p.P28 0.000 pfam_Defensin_beta-typ pfam_Defensin_beta-typ,smart_Defensin_beta/neutrophil - no_errors DEFB4B HGNC DERL3 91319 genome.wustl.edu 37 22 24176926 24176926 + RNA SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 22 24176926 24176926 G A SNP DERL3 ENST00000464023 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DERL3 HGNC DERL3 91319 genome.wustl.edu 37 22 24176933 24176933 + RNA SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 22 24176933 24176933 G A SNP DERL3 ENST00000464023 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors DERL3 HGNC DGKI 9162 genome.wustl.edu 37 7 137271863 137271863 + Nonsense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 137271863 137271863 G A SNP DGKI ENST00000424189 human ensembl 70_37 -1 known nonsense c.1405 p.R469* 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC DMD 1756 genome.wustl.edu 37 X 31525526 31525526 + Missense_Mutation SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 31525526 31525526 G C SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.8262 p.N2754K 1.000 pfam_Spectrin_repeat,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 DPT 1805 genome.wustl.edu 37 1 168683560 168683560 + Silent SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 168683560 168683560 C A SNP DPT ENST00000367817 human ensembl 70_37 -1 known silent c.330 p.G110 0.089 NULL NULL - no_errors DPT HGNC ENSG00000204038 0 genome.wustl.edu 37 10 82013302 82013302 + Missense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 10 82013302 82013302 G T SNP ENSG00000204038 ENST00000356374 human ensembl 70_37 +1 known missense c.820 p.V274L 0.000 NULL NULL - no_errors AL359195.1 Clone_based_ensembl_gene ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65229 65229 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb GL000212.1 65229 65229 G A SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known silent c.978 p.S326 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene EP400NL 347918 genome.wustl.edu 37 12 132589423 132589423 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 12 132589423 132589423 G A SNP EP400NL ENST00000376625 human ensembl 70_37 +1 known silent c.858 p.T286 0.189 NULL NULL - no_errors EP400NL HGNC FAM115C 285966 genome.wustl.edu 37 7 143417588 143417588 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 143417588 143417588 G A SNP FAM115C ENST00000441159 human ensembl 70_37 +1 known missense c.1436 p.R479Q 0.006 NULL NULL - no_errors FAM115C HGNC FGFRL1 53834 genome.wustl.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 4 1019055 1019056 CA - DEL FGFRL1 ENST00000264748 human ensembl 70_37 +1 known frame_shift_del c.1435_1436 p.T482fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FGFRL1 HGNC FILIP1L 11259 genome.wustl.edu 37 3 99567710 99567710 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 3 99567710 99567710 G A SNP FILIP1L ENST00000354552 human ensembl 70_37 -1 known missense c.2810 p.P937L 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC FOXP3 50943 genome.wustl.edu 37 X 49113249 49113249 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 49113249 49113249 G A SNP FOXP3 ENST00000376207 human ensembl 70_37 -1 known silent c.606 p.P202 0.367 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP3 HGNC FRG2B 441581 genome.wustl.edu 37 10 135438753 135438753 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 10 135438753 135438753 G A SNP FRG2B ENST00000443774 human ensembl 70_37 -1 known silent c.690 p.T230 0.707 NULL NULL - no_errors FRG2B HGNC GAB2 9846 genome.wustl.edu 37 11 77934520 77934520 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 77934520 77934520 G A SNP GAB2 ENST00000361507 human ensembl 70_37 -1 known missense c.1505 p.P502L 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC GAPDHS 26330 genome.wustl.edu 37 19 36034590 36034590 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 36034590 36034590 G A SNP GAPDHS ENST00000222286 human ensembl 70_37 +1 known missense c.917 p.R306Q 1.000 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC GPR45 11250 genome.wustl.edu 37 2 105858750 105858750 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 2 105858750 105858750 G A SNP GPR45 ENST00000258456 human ensembl 70_37 +1 known silent c.435 p.P145 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC HRC 3270 genome.wustl.edu 37 19 49657432 49657432 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 49657432 49657432 C T SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1063 p.E355K 0.950 pfam_Hist_rich_Ca-bd pfam_Hist_rich_Ca-bd - no_errors HRC HGNC IL12B 3593 genome.wustl.edu 37 5 158750115 158750117 + In_Frame_Del DEL AGC AGC - TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 5 158750115 158750117 AGC - DEL IL12B ENST00000231228 human ensembl 70_37 -1 known in_frame_del c.311_309 p.L104in_frame_del 1.000:0.998:0.990 pirsf_IL_12_beta pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,pirsf_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_IL_12_beta - no_errors IL12B HGNC INPP5D 3635 genome.wustl.edu 37 2 234072395 234072395 + Missense_Mutation SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 2 234072395 234072395 C G SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known missense c.1247 p.S416C 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC KIAA1109 84162 genome.wustl.edu 37 4 123234800 123234800 + Missense_Mutation SNP A A T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 4 123234800 123234800 A T SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.10270 p.T3424S 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KRT72 140807 genome.wustl.edu 37 12 52984671 52984671 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 12 52984671 52984671 G A SNP KRT72 ENST00000293745 human ensembl 70_37 -1 known silent c.1038 p.L346 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC LIN9 286826 genome.wustl.edu 37 1 226420826 226420826 + Missense_Mutation SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 226420826 226420826 G C SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known missense c.1542 p.I514M 1.000 NULL pfam_DIRP - no_errors LIN9 HGNC LOC100507463 100507463 genome.wustl.edu 37 6 32811885 32811885 + RNA SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 32811885 32811885 G C SNP LOC100507463 ENST00000453426 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors XXbac-BPG246D15.8 Clone_based_vega_gene LTF 4057 genome.wustl.edu 37 3 46497810 46497810 + Missense_Mutation SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 3 46497810 46497810 C A SNP LTF ENST00000231751 human ensembl 70_37 -1 known missense c.286 p.V96L 0.073 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC MAP3K7 6885 genome.wustl.edu 37 6 91254329 91254329 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 91254329 91254329 G A SNP MAP3K7 ENST00000369329 human ensembl 70_37 -1 known silent c.1233 p.G411 1.000 pirsf_MAPKKK7 pirsf_MAPKKK7,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K7 HGNC MSL1 339287 genome.wustl.edu 37 17 38278923 38278923 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 38278923 38278923 G A SNP MSL1 ENST00000398532 human ensembl 70_37 +1 known missense c.58 p.E20K 0.957 NULL NULL - no_errors MSL1 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13359 13359 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb MT 13359 13359 G A SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known silent c.1023 p.M341 NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MTF1 4520 genome.wustl.edu 37 1 38289394 38289394 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 1 38289394 38289394 G A SNP MTF1 ENST00000373036 human ensembl 70_37 -1 known missense c.1159 p.P387S 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC NAGS 162417 genome.wustl.edu 37 17 42084059 42084059 + Nonsense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 42084059 42084059 G T SNP NAGS ENST00000293404 human ensembl 70_37 +1 known nonsense c.1078 p.E360* 0.973 pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,pirsf_GlcNAc_Synth_met pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom - no_errors NAGS HGNC NPAP1 23742 genome.wustl.edu 37 15 24922847 24922847 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 15 24922847 24922847 G A SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known silent c.1833 p.Q611 0.006 NULL NULL - no_errors NPAP1 HGNC OPN5 221391 genome.wustl.edu 37 6 47749898 47749898 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 47749898 47749898 G A SNP OPN5 ENST00000371211 human ensembl 70_37 +1 known silent c.96 p.A32 0.988 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin - no_errors OPN5 HGNC OR13H1 347468 genome.wustl.edu 37 X 130678497 130678497 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 130678497 130678497 G A SNP OR13H1 ENST00000338616 human ensembl 70_37 +1 known silent c.450 p.G150 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13H1 HGNC OR6Q1 219952 genome.wustl.edu 37 11 57799064 57799064 + Missense_Mutation SNP T T G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 57799064 57799064 T G SNP OR6Q1 ENST00000302622 human ensembl 70_37 +1 known missense c.640 p.S214A 0.043 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Q1 HGNC OR8D4 338662 genome.wustl.edu 37 11 123777849 123777849 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 123777849 123777849 G A SNP OR8D4 ENST00000321355 human ensembl 70_37 +1 known silent c.711 p.A237 0.962 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC PALLD 23022 genome.wustl.edu 37 4 169819769 169819769 + Missense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 4 169819769 169819769 G T SNP PALLD ENST00000261509 human ensembl 70_37 +1 known missense c.2325 p.M775I 0.441 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC PHACTR1 221692 genome.wustl.edu 37 6 13206350 13206350 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 13206350 13206350 C T SNP PHACTR1 ENST00000432934 human ensembl 70_37 +1 known missense c.1175 p.T392I 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC PHKA2 5256 genome.wustl.edu 37 X 19002029 19002029 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 19002029 19002029 C T SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.22 p.G8R 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC PIK3AP1 118788 genome.wustl.edu 37 10 98355335 98355335 + Nonstop_Mutation SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 10 98355335 98355335 C G SNP PIK3AP1 ENST00000339364 human ensembl 70_37 -1 known nonstop c.2417 p.*806S 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC PIK3R4 30849 genome.wustl.edu 37 3 130435286 130435286 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 3 130435286 130435286 G A SNP PIK3R4 ENST00000356763 human ensembl 70_37 -1 known missense c.2285 p.P762L 0.998 NULL pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC PNMA5 114824 genome.wustl.edu 37 X 152159505 152159505 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 152159505 152159505 C T SNP PNMA5 ENST00000361887 human ensembl 70_37 -1 known missense c.638 p.R213Q 0.000 NULL NULL - no_errors PNMA5 HGNC PPP2R3B 28227 genome.wustl.edu 37 X 301537 301537 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 301537 301537 G A SNP PPP2R3B ENST00000390665 human ensembl 70_37 -1 known silent c.1314 p.L438 0.995 NULL pfscan_EF_HAND_2 - no_errors PPP2R3B HGNC RBBP8 5932 genome.wustl.edu 37 18 20576348 20576348 + Missense_Mutation SNP G G C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 18 20576348 20576348 G C SNP RBBP8 ENST00000327155 human ensembl 70_37 +1 known missense c.1951 p.E651Q 1.000 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC RBFOX1 54715 genome.wustl.edu 37 16 7645614 7645614 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 16 7645614 7645614 G A SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known missense c.661 p.G221S 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC RBMXL3 139804 genome.wustl.edu 37 X 114424716 114424716 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 114424716 114424716 C T SNP RBMXL3 ENST00000424776 human ensembl 70_37 +1 known missense c.712 p.R238W 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC RELN 5649 genome.wustl.edu 37 7 103243750 103243750 + Splice_Site SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 103243750 103243750 C G SNP RELN ENST00000424685 human ensembl 70_37 -1 known splice_site c.3333+1 e24+1 1.000 - - - no_errors RELN HGNC SALL4 57167 genome.wustl.edu 37 20 50407220 50407220 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 20 50407220 50407220 C T SNP SALL4 ENST00000217086 human ensembl 70_37 -1 known missense c.1802 p.R601Q 0.984 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC SCN2B 6327 genome.wustl.edu 37 11 118037789 118037789 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 118037789 118037789 C T SNP SCN2B ENST00000278947 human ensembl 70_37 -1 known missense c.461 p.R154Q 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0 - no_errors SCN2B HGNC SERPINA4 5267 genome.wustl.edu 37 14 95030000 95030000 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 14 95030000 95030000 C T SNP SERPINA4 ENST00000298841 human ensembl 70_37 +1 known missense c.181 p.R61C 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC SFMBT2 57713 genome.wustl.edu 37 10 7318929 7318929 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 10 7318929 7318929 G A SNP SFMBT2 ENST00000361972 human ensembl 70_37 -1 known silent c.795 p.A265 0.871 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC SLC24A1 9187 genome.wustl.edu 37 15 65918097 65918097 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 15 65918097 65918097 G A SNP SLC24A1 ENST00000261892 human ensembl 70_37 +1 known missense c.1679 p.R560H 1.000 pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC SLC6A8 6535 genome.wustl.edu 37 X 152954233 152954233 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 152954233 152954233 C T SNP SLC6A8 ENST00000253122 human ensembl 70_37 +1 known silent c.204 p.F68 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine - no_errors SLC6A8 HGNC SLC7A4 6545 genome.wustl.edu 37 22 21385831 21385831 + Missense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 22 21385831 21385831 C T SNP SLC7A4 ENST00000382932 human ensembl 70_37 -1 known missense c.271 p.E91K 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1 pfam_AA-permease_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC SLITRK2 84631 genome.wustl.edu 37 X 144905446 144905446 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 144905446 144905446 G A SNP SLITRK2 ENST00000370490 human ensembl 70_37 +1 known silent c.1503 p.L501 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC SMEK2 57223 genome.wustl.edu 37 2 55804494 55804494 + Splice_Site SNP T T C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 2 55804494 55804494 T C SNP SMEK2 ENST00000272313 human ensembl 70_37 -1 known splice_site c.1469-2 e10-2 0.997 - - - no_errors SMEK2 HGNC SPATA32 124783 genome.wustl.edu 37 17 43333141 43333141 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 43333141 43333141 G A SNP SPATA32 ENST00000331780 human ensembl 70_37 -1 known silent c.408 p.F136 0.000 NULL NULL - no_errors SPATA32 HGNC SYNE1 23345 genome.wustl.edu 37 6 152639379 152639379 + Missense_Mutation SNP T T C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 152639379 152639379 T C SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.16409 p.D5470G 0.998 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TBC1D3P2 440452 genome.wustl.edu 37 17 60349273 60349273 + RNA SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 60349273 60349273 C A SNP TBC1D3P2 ENST00000339120 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P2 HGNC TENM3 55714 genome.wustl.edu 37 4 183714672 183714672 + Missense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 4 183714672 183714672 G T SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known missense c.6847 p.A2283S 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC TICAM1 148022 genome.wustl.edu 37 19 4816382 4816382 + Missense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 4816382 4816382 G T SNP TICAM1 ENST00000248244 human ensembl 70_37 -1 known missense c.2008 p.P670T 0.000 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC TP53I11 9537 genome.wustl.edu 37 11 44959840 44959840 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 44959840 44959840 G A SNP TP53I11 ENST00000354556 human ensembl 70_37 -1 known missense c.47 p.T16M 1.000 NULL NULL - no_errors TP53I11 HGNC TSPAN4 7106 genome.wustl.edu 37 11 862623 862623 + Missense_Mutation SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 862623 862623 C G SNP TSPAN4 ENST00000397397 human ensembl 70_37 +1 known missense c.137 p.S46C 0.789 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN4 HGNC UBTF 7343 genome.wustl.edu 37 17 42292917 42292917 + RNA SNP C C A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 17 42292917 42292917 C A SNP UBTF ENST00000537550 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors UBTF HGNC UBXN4 23190 genome.wustl.edu 37 2 136519420 136519420 + Nonsense_Mutation SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 2 136519420 136519420 C T SNP UBXN4 ENST00000272638 human ensembl 70_37 +1 known nonsense c.541 p.Q181* 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34835144 34835144 + Silent SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 6 34835144 34835144 C G SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known silent c.3555 p.L1185 0.521 NULL NULL - no_errors UHRF1BP1 HGNC UNC93B1 81622 genome.wustl.edu 37 11 67759294 67759294 + Missense_Mutation SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 11 67759294 67759294 G A SNP UNC93B1 ENST00000227471 human ensembl 70_37 -1 known missense c.1514 p.A505V 1.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC WBSCR16 81554 genome.wustl.edu 37 7 74466872 74466872 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 7 74466872 74466872 G A SNP WBSCR16 ENST00000329959 human ensembl 70_37 -1 known silent c.1263 p.N421 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors WBSCR16 HGNC ZBTB33 10009 genome.wustl.edu 37 X 119388668 119388668 + Silent SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb X 119388668 119388668 G T SNP ZBTB33 ENST00000326624 human ensembl 70_37 +1 known silent c.1398 p.T466 0.008 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ZNF44 51710 genome.wustl.edu 37 19 12359151 12359151 + Silent SNP G G A TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 12359151 12359151 G A SNP ZNF44 ENST00000426973 human ensembl 70_37 -1 known silent c.564 p.F188 0.029 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 ZNF44 HGNC ZNF536 9745 genome.wustl.edu 37 19 31039805 31039805 + Silent SNP C C T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 31039805 31039805 C T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known silent c.3279 p.S1093 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ZNF66 7617 genome.wustl.edu 37 19 20989966 20989966 + Nonsense_Mutation SNP C C G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 20989966 20989966 C G SNP ZNF66P ENST00000344519 human ensembl 70_37 +1 novel nonsense c.1560 p.Y520* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF66P HGNC ZNF681 148213 genome.wustl.edu 37 19 23927271 23927271 + Missense_Mutation SNP T T C TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 23927271 23927271 T C SNP ZNF681 ENST00000402377 human ensembl 70_37 -1 known missense c.1081 p.T361A 1.000 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 ZNF681 HGNC ZNF880 400713 genome.wustl.edu 37 19 52887528 52887528 + Missense_Mutation SNP G G T TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7ac19348-9bcf-43e6-af2b-2eef1e6c3e79 e5eba636-4c19-4411-95f8-59b8218f57fb 19 52887528 52887528 G T SNP ZNF880 ENST00000422689 human ensembl 70_37 +1 known missense c.695 p.R232I 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC