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 ABCA13 0 genome.wustl.edu 37 7 48311649 48311649 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 48311649 48311649 T G SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.2386 p.F796V 0.003 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 123 0 0.00 41 5 10.87 - - - ABCA3 0 genome.wustl.edu 37 16 2347904 2347904 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 2347904 2347904 G C SNP ABCA3 ENST00000301732 human ensembl 69_37n -1 known missense c.1915 p.Q639E 0.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 61 0 0.00 12 5 29.41 - - - ABHD8 0 genome.wustl.edu 37 19 17411904 17411904 + Silent SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 17411904 17411904 G T SNP ABHD8 ENST00000247706 human ensembl 69_37n -1 known silent c.522 p.A174 0.224 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 22 0 0.00 3 5 62.50 - - - ABP1 0 genome.wustl.edu 37 7 150553777 150553777 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 150553777 150553777 G A SNP ABP1 ENST00000416793 human ensembl 69_37n +1 known silent c.219 p.E73 1.000 pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors ABP1 HGNC ENSG00000002726 154 0 0.00 169 26 13.33 - - - ACO1 0 genome.wustl.edu 37 9 32440470 32440470 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 32440470 32440470 T A SNP ACO1 ENST00000309951 human ensembl 69_37n +1 known missense c.2255 p.V752E 1.000 pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 77 0 0.00 70 23 24.73 - - - ACPT 0 genome.wustl.edu 37 19 51297015 51297015 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 51297015 51297015 G C SNP ACPT ENST00000270593 human ensembl 69_37n +1 known missense c.720 p.L240F 0.998 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 63 0 0.00 22 6 21.43 - - - ACSM1 0 genome.wustl.edu 37 16 20648499 20648499 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 20648499 20648499 G C SNP ACSM1 ENST00000219151 human ensembl 69_37n -1 known missense c.113 p.P38R 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ENSG00000166743 18 0 0.00 37 24 39.34 - - - ADAMTS20 0 genome.wustl.edu 37 12 43945717 43945717 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 43945717 43945717 A G SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.8 p.V3A 1.000 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC ENSG00000173157 38 0 0.00 21 10 32.26 - - - ADAR 0 genome.wustl.edu 37 1 154574808 154574808 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 154574808 154574808 G A SNP ADAR ENST00000292205 human ensembl 69_37n -1 known missense c.439 p.L147F 0.000 NULL pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 164 0 0.00 269 52 16.00 - - - ADCY9 0 genome.wustl.edu 37 16 4164945 4164945 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 4164945 4164945 G A SNP ADCY9 ENST00000294016 human ensembl 69_37n -1 known silent c.499 p.L167 0.874 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 77 0 0.00 20 7 25.93 - - - ADH5 0 genome.wustl.edu 37 4 99997652 99997652 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 99997652 99997652 C G SNP ADH5 ENST00000296412 human ensembl 69_37n -1 known missense c.616 p.A206P 1.000 pfam_ADH_C,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 253 0 0.00 75 16 17.58 - - - ADH5 0 genome.wustl.edu 37 4 99997655 99997655 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 99997655 99997655 A T SNP ADH5 ENST00000296412 human ensembl 69_37n -1 known missense c.613 p.L205M 0.921 pfam_ADH_C,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 257 0 0.00 73 16 17.98 - - - ADPRH 0 genome.wustl.edu 37 3 119306587 119306587 + Nonsense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 119306587 119306587 C A SNP ADPRH ENST00000357003 human ensembl 69_37n +1 known nonsense c.936 p.C312* 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRH HGNC ENSG00000144843 161 0 0.00 62 35 36.08 - - - ADRBK1 0 genome.wustl.edu 37 11 67052502 67052502 + RNA SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 67052502 67052502 G C SNP ADRBK1 ENST00000527176 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ADRBK1 HGNC ENSG00000173020 43 0 0.00 3 14 82.35 - - - ADRM1 0 genome.wustl.edu 37 20 60881358 60881358 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 60881358 60881358 G C SNP ADRM1 ENST00000253003 human ensembl 69_37n +1 known missense c.436 p.E146Q 1.000 pfam_26S_Psome_Ubiquitin-recp_Rpn13 pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ENSG00000130706 84 0 0.00 13 5 27.78 - - - AHNAK2 0 genome.wustl.edu 37 14 105409543 105409543 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 105409543 105409543 C T SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.12245 p.G4082D 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 333 0 0.00 72 10 12.05 - - - AHNAK2 0 genome.wustl.edu 37 14 105410061 105410061 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 105410061 105410061 C T SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.11727 p.K3909 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 403 0 0.00 136 39 22.29 - - - AHNAK2 0 genome.wustl.edu 37 14 105410064 105410064 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 105410064 105410064 G C SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.11724 p.I3908M 0.003 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 391 0 0.00 127 33 19.76 - - - AHNAK2 0 genome.wustl.edu 37 14 105410066 105410066 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 105410066 105410066 T G SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.11722 p.I3908L 0.043 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 391 0 0.00 125 32 19.51 - - - AHNAK2 0 genome.wustl.edu 37 14 105410167 105410168 + Frame_Shift_Ins INS - - GG TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 105410167 105410168 - GG INS AHNAK2 ENST00000333244 human ensembl 69_37n -1 known frame_shift_ins c.11621_11620 p.G3874fs 0.000:0.002 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 260 0 0.00 40 17 29.82 - - - AK2 0 genome.wustl.edu 37 1 33490155 33490155 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 33490155 33490155 G C SNP AK2 ENST00000354858 human ensembl 69_37n -1 known missense c.107 p.A36G 1.000 pfam_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK2 HGNC ENSG00000004455 102 0 0.00 28 95 77.24 - - - AKR1C4 0 genome.wustl.edu 37 10 5248263 5248263 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 5248263 5248263 G C SNP AKR1C4 ENST00000263126 human ensembl 69_37n +1 known missense c.473 p.G158A 0.994 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ENSG00000198610 349 1 0.29 835 147 14.94 - - - ALDH1A2 0 genome.wustl.edu 37 15 58357803 58357803 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 15 58357803 58357803 G T SNP ALDH1A2 ENST00000249750 human ensembl 69_37n -1 known missense c.46 p.P16T 1.000 NULL pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 43 0 0.00 13 12 48.00 - - - ALG10B 0 genome.wustl.edu 37 12 38714741 38714741 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 38714741 38714741 G C SNP ALG10B ENST00000308742 human ensembl 69_37n +1 known missense c.1148 p.S383T 0.986 pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10 pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10 - no_errors ALG10B HGNC ENSG00000175548 329 0 0.00 134 73 35.27 - - - AMPD3 0 genome.wustl.edu 37 11 10483070 10483070 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 10483070 10483070 C T SNP AMPD3 ENST00000396553 human ensembl 69_37n +1 known missense c.4 p.P2S 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 66 0 0.00 46 11 19.30 - - - AMPD3 0 genome.wustl.edu 37 11 10483072 10483072 + Silent SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 10483072 10483072 G T SNP AMPD3 ENST00000396553 human ensembl 69_37n +1 known silent c.6 p.P2 0.679 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 66 0 0.00 47 11 18.97 - - - AMPD3 0 genome.wustl.edu 37 11 10483076 10483076 + Nonsense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 10483076 10483076 C T SNP AMPD3 ENST00000396553 human ensembl 69_37n +1 known nonsense c.10 p.Q4* 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 70 0 0.00 48 12 20.00 - - - ANAPC4 0 genome.wustl.edu 37 4 25408876 25408876 + Splice_Site SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 25408876 25408876 G T SNP ANAPC4 ENST00000510092 human ensembl 69_37n +1 known splice_site c.1434+1 e19+1 1.000 - - - no_errors ANAPC4 HGNC ENSG00000053900 224 0 0.00 39 121 75.62 - - - ANK1 0 genome.wustl.edu 37 8 41530136 41530136 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 41530136 41530136 C T SNP ANK1 ENST00000396942 human ensembl 69_37n -1 known missense c.4832 p.R1611Q 0.994 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 155 0 0.00 66 55 45.45 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015426 133015426 + RNA SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 133015426 133015426 C T SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors ANKRD30BL HGNC ENSG00000163046 106 0 0.00 40 11 21.57 - - - AP1B1 0 genome.wustl.edu 37 22 29747816 29747816 + Splice_Site SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 29747816 29747816 T A SNP AP1B1 ENST00000357586 human ensembl 69_37n -1 known splice_site c.939-2 e7-2 1.000 - - - no_errors AP1B1 HGNC ENSG00000100280 143 0 0.00 91 86 48.59 - - - AP2A1 0 genome.wustl.edu 37 19 50295317 50295317 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 50295317 50295317 A G SNP AP2A1 ENST00000359032 human ensembl 69_37n +1 known missense c.599 p.H200R 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 54 0 0.00 47 58 55.24 - - - AP3D1 0 genome.wustl.edu 37 19 2121185 2121185 + Nonsense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 2121185 2121185 G C SNP AP3D1 ENST00000355272 human ensembl 69_37n -1 known nonsense c.1227 p.Y409* 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 347 0 0.00 75 49 39.52 - - - AP3D1 0 genome.wustl.edu 37 19 2121186 2121186 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 2121186 2121186 T C SNP AP3D1 ENST00000355272 human ensembl 69_37n -1 known missense c.1226 p.Y409C 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 344 0 0.00 76 63 45.32 - - - AR 0 genome.wustl.edu 37 X 66931270 66931270 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 66931270 66931270 C A SNP AR ENST00000374690 human ensembl 69_37n +1 known missense c.1912 p.L638M 0.999 NULL pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 110 0 0.00 33 39 54.17 - - - ARHGAP40 0 genome.wustl.edu 37 20 37267951 37267951 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 37267951 37267951 T A SNP ARHGAP40 ENST00000373345 human ensembl 69_37n +1 known missense c.1042 p.L348M 0.883 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP40 HGNC ENSG00000124143 224 0 0.00 169 255 60.14 - - - ARHGEF37 0 genome.wustl.edu 37 5 149001472 149001473 + Frame_Shift_Del DEL AT AT - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 149001472 149001473 AT - DEL ARHGEF37 ENST00000333677 human ensembl 69_37n +1 known frame_shift_del c.1182_1183 p.Y395fs 0.720:1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 133 0 0.00 134 17 11.26 - - - ARID1A 0 genome.wustl.edu 37 1 27089688 27089688 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 27089688 27089688 G T SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known missense c.2644 p.G882W 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 62 0 0.00 30 15 33.33 - - - ASB2 0 genome.wustl.edu 37 14 94413838 94413838 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 94413838 94413838 G C SNP ASB2 ENST00000315988 human ensembl 69_37n -1 known missense c.765 p.D255E 0.977 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 233 0 0.00 192 40 17.24 - - - ASPHD1 0 genome.wustl.edu 37 16 29913171 29913171 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 29913171 29913171 C T SNP ASPHD1 ENST00000308748 human ensembl 69_37n +1 known silent c.879 p.S293 0.207 pfam_Asp_Arg_b-Hydrxlase pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 9 0 0.00 12 9 42.86 - - - ATG9A 0 genome.wustl.edu 37 2 220089424 220089424 + Silent SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 220089424 220089424 A C SNP ATG9A ENST00000361242 human ensembl 69_37n -1 known silent c.669 p.V223 0.873 pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 174 0 0.00 93 23 19.83 - - - ATG9A 0 genome.wustl.edu 37 2 220089426 220089426 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 220089426 220089426 C G SNP ATG9A ENST00000361242 human ensembl 69_37n -1 known missense c.667 p.V223L 1.000 pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 174 0 0.00 93 22 19.13 - - - BAI2 0 genome.wustl.edu 37 1 32201168 32201169 + RNA INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 32201168 32201169 - C INS BAI2 ENST00000465256 human ensembl 69_37n -1 known rna NULL NULL 0.516:0.865 - - - no_errors BAI2 HGNC ENSG00000121753 147 0 0.00 60 7 10.45 - - - BASP1 0 genome.wustl.edu 37 5 17275511 17275511 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 17275511 17275511 C T SNP BASP1 ENST00000322611 human ensembl 69_37n +1 known silent c.186 p.A62 0.024 pfam_BASP1 pfam_BASP1 - no_errors BASP1 HGNC ENSG00000176788 23 0 0.00 7 11 57.89 - - - BBS12 0 genome.wustl.edu 37 4 123664820 123664820 + Silent SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 123664820 123664820 G C SNP BBS12 ENST00000314218 human ensembl 69_37n +1 known silent c.1773 p.L591 0.999 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC ENSG00000181004 269 0 0.00 205 65 23.99 - - - BCL7B 0 genome.wustl.edu 37 7 72951608 72951608 + RNA SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 72951608 72951608 G A SNP BCL7B ENST00000463858 human ensembl 69_37n -1 known rna NULL NULL 0.500 - - - no_errors BCL7B HGNC ENSG00000106635 50 0 0.00 19 13 40.62 - - - BCL9 0 genome.wustl.edu 37 1 147091500 147091501 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 147091500 147091501 - C INS BCL9 ENST00000234739 human ensembl 69_37n +1 known frame_shift_ins c.1539_1540 p.P516fs 1.000:1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 29 0 0.00 40 9 18.37 - - - BCR 0 genome.wustl.edu 37 22 23524096 23524097 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 23524096 23524097 - C INS BCR ENST00000305877 human ensembl 69_37n +1 known frame_shift_ins c.949_950 p.R319fs 1.000:1.000 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 45 0 0.00 12 3 20.00 - - - BIRC6 0 genome.wustl.edu 37 2 32640653 32640653 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 32640653 32640653 C A SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.2294 p.A765D 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 66 0 0.00 71 28 28.00 - - - C10orf2 0 genome.wustl.edu 37 10 102748271 102748271 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 102748271 102748271 C A SNP C10orf2 ENST00000311916 human ensembl 69_37n +1 known missense c.304 p.L102I 1.000 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 87 0 0.00 40 5 11.11 - - - C1orf174 0 genome.wustl.edu 37 1 3807144 3807144 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 3807144 3807144 C G SNP C1orf174 ENST00000361605 human ensembl 69_37n -1 known missense c.607 p.E203Q 0.997 NULL NULL - no_errors C1orf174 HGNC ENSG00000198912 139 0 0.00 60 28 31.82 - - - C1orf61 0 genome.wustl.edu 37 1 156377691 156377691 + Frame_Shift_Del DEL A A - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 156377691 156377691 A - DEL C1orf61 ENST00000368243 human ensembl 69_37n -1 known frame_shift_del c.248 p.V83fs 0.005 NULL NULL - no_errors C1orf61 HGNC ENSG00000125462 198 0 0.00 189 26 10.88 - - - C1orf64 0 genome.wustl.edu 37 1 16330801 16330801 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 16330801 16330801 G C SNP C1orf64 ENST00000329454 human ensembl 69_37n +1 known missense c.3 p.M1I 0.013 NULL NULL - no_errors C1orf64 HGNC ENSG00000183888 33 0 0.00 12 50 79.37 - - - C1orf64 0 genome.wustl.edu 37 1 16330804 16330804 + Silent SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 16330804 16330804 C A SNP C1orf64 ENST00000329454 human ensembl 69_37n +1 known silent c.6 p.A2 0.000 NULL NULL - no_errors C1orf64 HGNC ENSG00000183888 38 0 0.00 13 57 81.43 - - - C20orf112 0 genome.wustl.edu 37 20 31041555 31041556 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 31041555 31041556 - G INS C20orf112 ENST00000359676 human ensembl 69_37n -1 known frame_shift_ins c.397_396 p.Y132fs 0.997:0.034 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 161 0 0.00 121 14 10.37 - - - C2CD3 0 genome.wustl.edu 37 11 73829409 73829409 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 73829409 73829409 T G SNP C2CD3 ENST00000334126 human ensembl 69_37n -1 known missense c.1384 p.S462R 0.991 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC ENSG00000168014 200 0 0.00 309 69 18.21 - - - C4BPB 0 genome.wustl.edu 37 1 207265113 207265113 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 207265113 207265113 C G SNP C4BPB ENST00000243611 human ensembl 69_37n +1 known missense c.357 p.S119R 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPB HGNC ENSG00000123843 130 0 0.00 187 56 23.05 - - - C6orf25 0 genome.wustl.edu 37 6 31691562 31691562 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 31691562 31691562 G A SNP C6orf25 ENST00000375806 human ensembl 69_37n +1 known missense c.208 p.G70R 0.030 NULL NULL - no_errors C6orf25 HGNC ENSG00000204420 32 0 0.00 71 40 36.04 - - - C7orf25 0 genome.wustl.edu 37 7 42949919 42949919 + Frame_Shift_Del DEL G G - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 42949919 42949919 G - DEL C7orf25 ENST00000431882 human ensembl 69_37n -1 known frame_shift_del c.755 p.A252fs 1.000 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 135 0 0.00 85 10 10.53 - - - C7orf25 0 genome.wustl.edu 37 7 42949923 42949923 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 42949923 42949923 C T SNP C7orf25 ENST00000431882 human ensembl 69_37n -1 known missense c.751 p.V251I 1.000 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 140 0 0.00 86 12 12.24 - - - C9orf106 0 genome.wustl.edu 37 9 132084262 132084262 + RNA SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 132084262 132084262 C T SNP C9orf106 ENST00000316786 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors C9orf106 HGNC ENSG00000179082 226 1 0.44 16 47 74.60 - - - C9orf174 0 genome.wustl.edu 37 9 100127901 100127901 + RNA SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 100127901 100127901 A C SNP C9orf174 ENST00000483504 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors C9orf174 HGNC ENSG00000197816 138 0 0.00 78 22 21.78 - - - CA5B 0 genome.wustl.edu 37 X 15800681 15800681 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 15800681 15800681 C A SNP CA5B ENST00000318636 human ensembl 69_37n +1 known missense c.848 p.P283H 0.990 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA5B HGNC ENSG00000169239 207 0 0.00 155 22 12.29 - - - CA5B 0 genome.wustl.edu 37 X 15800682 15800682 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 15800682 15800682 C T SNP CA5B ENST00000318636 human ensembl 69_37n +1 known silent c.849 p.P283 0.825 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA5B HGNC ENSG00000169239 206 0 0.00 156 20 11.36 - - - CACNA1C 0 genome.wustl.edu 37 12 2774053 2774053 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 2774053 2774053 C T SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known missense c.4295 p.A1432V 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_L_a1csu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 79 0 0.00 74 23 23.71 - - - CACNA1D 0 genome.wustl.edu 37 3 53758015 53758015 + Frame_Shift_Del DEL A A - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 53758015 53758015 A - DEL CACNA1D ENST00000288139 human ensembl 69_37n +1 known frame_shift_del c.2149 p.T717fs 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 222 0 0.00 99 19 15.83 - - - CACNA1D 0 genome.wustl.edu 37 3 53758019 53758019 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 53758019 53758019 T A SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.2153 p.V718E 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 211 0 0.00 97 18 15.52 - - - CACNA1G 0 genome.wustl.edu 37 17 48683490 48683490 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 48683490 48683490 G A SNP CACNA1G ENST00000416767 human ensembl 69_37n +1 putative missense c.4528 p.E1510K 0.002 NULL pfam_Ion_trans_dom,prints_VDCC_T_a1su - no_errors CACNA1G HGNC ENSG00000006283 48 0 0.00 31 5 13.89 - - - CACNA1G 0 genome.wustl.edu 37 17 48683516 48683516 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 48683516 48683516 G A SNP CACNA1G ENST00000416767 human ensembl 69_37n +1 putative silent c.4554 p.L1518 0.005 NULL pfam_Ion_trans_dom,prints_VDCC_T_a1su - no_errors CACNA1G HGNC ENSG00000006283 41 0 0.00 30 5 14.29 - - - CAMK2G 0 genome.wustl.edu 37 10 75620617 75620617 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 75620617 75620617 A G SNP CAMK2G ENST00000423381 human ensembl 69_37n -1 known missense c.191 p.I64T 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_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2G HGNC ENSG00000148660 301 1 0.33 119 71 37.17 - - - CAMTA2 0 genome.wustl.edu 37 17 4875737 4875738 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 4875737 4875738 - G INS CAMTA2 ENST00000414043 human ensembl 69_37n -1 known frame_shift_ins c.2667_2666 p.A890fs 0.999:1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 39 0 0.00 47 7 12.96 - - - CAPN1 0 genome.wustl.edu 37 11 64975690 64975690 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 64975690 64975690 C A SNP CAPN1 ENST00000279247 human ensembl 69_37n +1 known missense c.1686 p.S562R 0.286 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 110 0 0.00 46 42 47.73 - - - CAPN8 0 genome.wustl.edu 37 1 223717545 223717545 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 223717545 223717545 C A SNP CAPN8 ENST00000366872 human ensembl 69_37n -1 known missense c.1847 p.G616V 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 83 0 0.00 147 26 15.03 - - - CARD10 0 genome.wustl.edu 37 22 37906381 37906381 + Silent SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 37906381 37906381 T A SNP CARD10 ENST00000251973 human ensembl 69_37n -1 known silent c.747 p.A249 0.001 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 54 0 0.00 29 15 34.09 - - - CARD10 0 genome.wustl.edu 37 22 37906383 37906384 + Frame_Shift_Ins INS - - A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 37906383 37906384 - A INS CARD10 ENST00000251973 human ensembl 69_37n -1 known frame_shift_ins c.745_744 p.A248fs 0.000:0.023 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 52 0 0.00 28 15 34.88 - - - CARD10 0 genome.wustl.edu 37 22 37906385 37906385 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 37906385 37906385 C G SNP CARD10 ENST00000251973 human ensembl 69_37n -1 known missense c.743 p.C248S 0.998 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 54 0 0.00 30 15 33.33 - - - CARD14 0 genome.wustl.edu 37 17 78157893 78157893 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 78157893 78157893 C G SNP CARD14 ENST00000344227 human ensembl 69_37n +1 known missense c.531 p.H177Q 0.949 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin - no_errors CARD14 HGNC ENSG00000141527 13 0 0.00 21 7 25.00 - - - CAV2 0 genome.wustl.edu 37 7 116140292 116140292 + RNA DEL T T - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 116140292 116140292 T - DEL CAV2 ENST00000495841 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors CAV2 HGNC ENSG00000105971 73 0 0.00 19 27 56.25 - - - CBX7 0 genome.wustl.edu 37 22 39534676 39534676 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 39534676 39534676 T G SNP CBX7 ENST00000216133 human ensembl 69_37n -1 known missense c.211 p.K71Q 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX7 HGNC ENSG00000100307 197 0 0.00 71 8 10.13 - - - CCDC39 0 genome.wustl.edu 37 3 180369311 180369311 + Frame_Shift_Del DEL T T - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 180369311 180369311 T - DEL CCDC39 ENST00000442201 human ensembl 69_37n -1 known frame_shift_del c.1045 p.T349fs 0.014 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 355 0 0.00 459 354 42.96 - - - CCDC88A 0 genome.wustl.edu 37 2 55522655 55522655 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 55522655 55522655 C T SNP CCDC88A ENST00000426576 human ensembl 69_37n -1 putative missense c.3154 p.D1052N 0.000 NULL NULL - no_start_codon CCDC88A HGNC ENSG00000115355 66 0 0.00 36 11 23.40 - - - CCR9 0 genome.wustl.edu 37 3 45942991 45942991 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 45942991 45942991 C T SNP CCR9 ENST00000357632 human ensembl 69_37n +1 known silent c.711 p.I237 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4,pfscan_GPCR_Rhodpsn_supfam - no_errors CCR9 HGNC ENSG00000173585 350 0 0.00 278 238 46.03 - - - CCR9 0 genome.wustl.edu 37 3 45942995 45942995 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 45942995 45942995 C T SNP CCR9 ENST00000357632 human ensembl 69_37n +1 known missense c.715 p.H239Y 0.998 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_ATII_rcpt,prints_Chemokine_CXCR4,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCR11,prints_Chemokine_CXCR4,pfscan_GPCR_Rhodpsn_supfam - no_errors CCR9 HGNC ENSG00000173585 356 3 0.84 282 243 46.29 - - - CDC42BPG 0 genome.wustl.edu 37 11 64600123 64600123 + Silent SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 64600123 64600123 C G SNP CDC42BPG ENST00000342711 human ensembl 69_37n -1 known silent c.2958 p.L986 0.015 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC ENSG00000171219 57 0 0.00 22 6 21.43 - - - CDC42EP1 0 genome.wustl.edu 37 22 37962638 37962639 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 37962638 37962639 - C INS CDC42EP1 ENST00000249014 human ensembl 69_37n +1 known frame_shift_ins c.282_283 p.R96fs 0.000:0.001 NULL pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd - no_errors CDC42EP1 HGNC ENSG00000128283 72 0 0.00 44 5 10.20 - - - CDH16 0 genome.wustl.edu 37 16 66945978 66945978 + Silent SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 66945978 66945978 C A SNP CDH16 ENST00000299752 human ensembl 69_37n -1 known silent c.1614 p.L538 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 83 0 0.00 28 9 24.32 - - - CDKN2AIP 0 genome.wustl.edu 37 4 184367244 184367244 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 184367244 184367244 G T SNP CDKN2AIP ENST00000504169 human ensembl 69_37n +1 known missense c.407 p.G136V 1.000 NULL pfam_DUF3469,pfscan_Ds-RNA-bd - no_errors CDKN2AIP HGNC ENSG00000168564 59 0 0.00 18 10 35.71 - - - CDKN2AIP 0 genome.wustl.edu 37 4 184368038 184368038 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 184368038 184368038 A G SNP CDKN2AIP ENST00000504169 human ensembl 69_37n +1 known missense c.1201 p.S401G 0.998 NULL pfam_DUF3469,pfscan_Ds-RNA-bd - no_errors CDKN2AIP HGNC ENSG00000168564 106 0 0.00 20 14 41.18 - - - CDX2 0 genome.wustl.edu 37 13 28537277 28537278 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 13 28537277 28537278 - C INS CDX2 ENST00000381020 human ensembl 69_37n -1 known frame_shift_ins c.917_916 p.V306fs 0.999:0.992 NULL pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC ENSG00000165556 95 0 0.00 20 3 13.04 - - - CELSR2 0 genome.wustl.edu 37 1 109795431 109795431 + Silent SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 109795431 109795431 T A SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known silent c.2730 p.T910 0.904 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 103 0 0.00 16 19 52.78 - - - CELSR2 0 genome.wustl.edu 37 1 109795768 109795768 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 109795768 109795768 C T SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known silent c.3067 p.L1023 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 63 0 0.00 11 143 92.86 - - - CERCAM 0 genome.wustl.edu 37 9 131198057 131198059 + In_Frame_Del DEL CAT CAT - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 131198057 131198059 CAT - DEL CERCAM ENST00000372838 human ensembl 69_37n +1 known in_frame_del c.1661_1663 p.PW554in_frame_delR 0.024:0.022:0.997 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 23 0 0.00 15 9 36.00 - - - CERS4 0 genome.wustl.edu 37 19 8326948 8326949 + Frame_Shift_Ins INS - - T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 8326948 8326949 - T INS CERS4 ENST00000251363 human ensembl 69_37n +1 known frame_shift_ins c.1140_1141 p.R380fs 0.064:0.065 NULL pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS4 HGNC ENSG00000090661 9 0 0.00 13 9 40.91 - - - CHD4 0 genome.wustl.edu 37 12 6707089 6707089 + Nonsense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 6707089 6707089 C T SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known nonsense c.1863 p.W621* 1.000 superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 87 0 0.00 85 143 62.72 - - - CHI3L1 0 genome.wustl.edu 37 1 203149664 203149664 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 203149664 203149664 G A SNP CHI3L1 ENST00000255409 human ensembl 69_37n -1 known silent c.828 p.A276 0.988 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 73 0 0.00 46 13 22.03 - - - CIC 0 genome.wustl.edu 37 19 42796882 42796883 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 42796882 42796883 - C INS CIC ENST00000160740 human ensembl 69_37n +1 known frame_shift_ins c.3340_3341 p.S1117fs 1.000:0.993 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 104 0 0.00 36 4 10.00 - - - CLIP2 0 genome.wustl.edu 37 7 73791030 73791030 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 73791030 73791030 G A SNP CLIP2 ENST00000223398 human ensembl 69_37n +1 known missense c.2299 p.E767K 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 27 0 0.00 10 14 58.33 - - - CLVS1 0 genome.wustl.edu 37 8 62412081 62412081 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 62412081 62412081 C G SNP CLVS1 ENST00000325897 human ensembl 69_37n +1 known missense c.1045 p.P349A 1.000 NULL pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS1 HGNC ENSG00000177182 140 0 0.00 197 62 23.94 - - - CNTNAP1 0 genome.wustl.edu 37 17 40840959 40840959 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 40840959 40840959 G A SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known missense c.1522 p.E508K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 332 0 0.00 327 118 26.52 - - - COG8 0 genome.wustl.edu 37 16 69368617 69368617 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 69368617 69368617 C T SNP COG8 ENST00000306875 human ensembl 69_37n -1 known missense c.1220 p.G407D 1.000 pirsf_COG_su8 pfam_Dor1,superfamily_Cullin_repeat-like_dom,pirsf_COG_su8 - no_errors COG8 HGNC ENSG00000213380 112 0 0.00 85 23 21.30 - - - COL11A2 0 genome.wustl.edu 37 6 33152074 33152075 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 33152074 33152075 - G INS COL11A2 ENST00000341947 human ensembl 69_37n -1 known frame_shift_ins c.967_966 p.T322fs 0.999:0.989 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 73 0 0.00 17 4 19.05 - - - COL12A1 0 genome.wustl.edu 37 6 75839836 75839836 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 75839836 75839836 G A SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.6181 p.P2061S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 176 0 0.00 204 94 31.54 - - - COL22A1 0 genome.wustl.edu 37 8 139701178 139701178 + Silent SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 139701178 139701178 A G SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known silent c.2844 p.D948 0.994 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 213 1 0.47 64 8 11.11 - - - COL4A6 0 genome.wustl.edu 37 X 107421948 107421948 + Silent SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 107421948 107421948 C G SNP COL4A6 ENST00000372216 human ensembl 69_37n -1 known silent c.2484 p.G828 0.002 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 167 0 0.00 125 14 10.00 - - - COL6A3 0 genome.wustl.edu 37 2 238253387 238253387 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 238253387 238253387 A G SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known missense c.7274 p.V2425A 0.127 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 130 0 0.00 75 32 29.09 - - - COX7B2 0 genome.wustl.edu 37 4 46737103 46737103 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 46737103 46737103 T C SNP COX7B2 ENST00000302930 human ensembl 69_37n -1 known missense c.107 p.D36G 1.000 pfam_Cyt_c_oxidase_suVIIB,superfamily_Cyt_c_oxidase_suVIIB_dom pfam_Cyt_c_oxidase_suVIIB,superfamily_Cyt_c_oxidase_suVIIB_dom - no_errors COX7B2 HGNC ENSG00000170516 173 0 0.00 336 58 14.72 - - - CPEB1 0 genome.wustl.edu 37 15 83215973 83215974 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 15 83215973 83215974 - C INS CPEB1 ENST00000562019 human ensembl 69_37n -1 known frame_shift_ins c.1429_1428 p.T476fs 1.000:1.000 pfscan_RRM_dom pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 137 0 0.00 190 23 10.80 - - - CPSF6 0 genome.wustl.edu 37 12 69646886 69646886 + Frame_Shift_Del DEL T T - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 69646886 69646886 T - DEL CPSF6 ENST00000266679 human ensembl 69_37n +1 known frame_shift_del c.326 p.L110fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 211 0 0.00 279 74 20.90 - - - CPZ 0 genome.wustl.edu 37 4 8603072 8603072 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 8603072 8603072 G C SNP CPZ ENST00000360986 human ensembl 69_37n +1 known missense c.344 p.R115P 0.009 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14 - no_errors CPZ HGNC ENSG00000109625 37 0 0.00 5 5 45.45 - - - CRY1 0 genome.wustl.edu 37 12 107391414 107391414 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 107391414 107391414 C A SNP CRY1 ENST00000008527 human ensembl 69_37n -1 known missense c.1344 p.W448C 1.000 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC ENSG00000008405 264 0 0.00 258 46 15.13 - - - CSMD1 0 genome.wustl.edu 37 8 2857623 2857623 + Nonsense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 2857623 2857623 A T SNP CSMD1 ENST00000335551 human ensembl 69_37n -1 novel nonsense c.6312 p.C2104* 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 HGNC ENSG00000183117 97 0 0.00 51 30 37.04 - - - CTC1 0 genome.wustl.edu 37 17 8141744 8141744 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 8141744 8141744 T C SNP CTC1 ENST00000315684 human ensembl 69_37n -1 known missense c.401 p.Y134C 0.998 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 220 0 0.00 44 127 74.27 - - - CTNND2 0 genome.wustl.edu 37 5 11364989 11364990 + Frame_Shift_Ins INS - - A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 11364989 11364990 - A INS CTNND2 ENST00000304623 human ensembl 69_37n -1 known frame_shift_ins c.1191_1190 p.S398fs 1.000:1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 69 0 0.00 26 61 70.11 - - - CTNND2 0 genome.wustl.edu 37 5 11364993 11364993 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 11364993 11364993 C T SNP CTNND2 ENST00000304623 human ensembl 69_37n -1 known missense c.1187 p.R396Q 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 58 0 0.00 19 69 78.41 - - - CXCR3 0 genome.wustl.edu 37 X 70837027 70837027 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 70837027 70837027 C T SNP CXCR3 ENST00000373691 human ensembl 69_37n -1 known missense c.436 p.D146N 0.981 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR3,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt - no_errors CXCR3 HGNC ENSG00000186810 34 0 0.00 24 10 29.41 - - - CYFIP1 0 genome.wustl.edu 37 15 22929811 22929811 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 15 22929811 22929811 G A SNP CYFIP1 ENST00000313077 human ensembl 69_37n +1 known missense c.485 p.G162D 1.000 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 105 0 0.00 16 3 15.79 - - - CYP2C19 0 genome.wustl.edu 37 10 96535496 96535496 + RNA SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 96535496 96535496 A G SNP CYP2C19 ENST00000480405 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors CYP2C19 HGNC ENSG00000165841 64 0 0.00 40 39 49.37 - - - CYP4F11 0 genome.wustl.edu 37 19 16025600 16025600 + Silent SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 16025600 16025600 C G SNP CYP4F11 ENST00000248041 human ensembl 69_37n -1 known silent c.1221 p.V407 0.007 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 174 0 0.00 36 102 73.91 - - - DAB1 0 genome.wustl.edu 37 1 57480646 57480646 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 57480646 57480646 C A SNP DAB1 ENST00000371231 human ensembl 69_37n -1 known missense c.1453 p.V485L 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB1 HGNC ENSG00000173406 227 1 0.44 68 58 46.03 - - - DAGLA 0 genome.wustl.edu 37 11 61502368 61502369 + Frame_Shift_Del DEL TC TC - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 61502368 61502369 TC - DEL DAGLA ENST00000257215 human ensembl 69_37n +1 known frame_shift_del c.1022_1023 p.I341fs 1.000:0.995 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 97 0 0.00 70 9 11.25 - - - DCAF5 0 genome.wustl.edu 37 14 69520743 69520743 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 69520743 69520743 T C SNP DCAF5 ENST00000341516 human ensembl 69_37n -1 known missense c.2660 p.E887G 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 228 0 0.00 146 30 16.95 - - - DCHS1 0 genome.wustl.edu 37 11 6644446 6644446 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 6644446 6644446 G C SNP DCHS1 ENST00000299441 human ensembl 69_37n -1 known missense c.8461 p.Q2821E 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 52 0 0.00 16 14 45.16 - - - DCHS2 0 genome.wustl.edu 37 4 155242031 155242031 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 155242031 155242031 G C SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.3155 p.S1052C 0.975 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 307 1 0.32 270 72 21.05 - - - DCHS2 0 genome.wustl.edu 37 4 155242033 155242033 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 155242033 155242033 A T SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.3153 p.H1051Q 0.977 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 309 0 0.00 270 68 20.12 - - - DDX31 0 genome.wustl.edu 37 9 135505736 135505736 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 135505736 135505736 G A SNP DDX31 ENST00000372159 human ensembl 69_37n -1 known missense c.1861 p.R621W 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 123 0 0.00 106 40 27.21 - - - DEAF1 0 genome.wustl.edu 37 11 684947 684947 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 684947 684947 G A SNP DEAF1 ENST00000382409 human ensembl 69_37n -1 known missense c.821 p.P274L 1.000 superfamily_SAND_dom-like pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 109 0 0.00 69 476 87.34 - - - DEAF1 0 genome.wustl.edu 37 11 684948 684948 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 684948 684948 G T SNP DEAF1 ENST00000382409 human ensembl 69_37n -1 known missense c.820 p.P274T 1.000 superfamily_SAND_dom-like pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 107 1 0.93 69 470 86.88 - - - DENND3 0 genome.wustl.edu 37 8 142178166 142178167 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 142178166 142178167 - C INS DENND3 ENST00000262585 human ensembl 69_37n +1 known frame_shift_ins c.1577_1578 p.E526fs 0.996:0.992 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 94 0 0.00 36 6 14.29 - - - DENND5A 0 genome.wustl.edu 37 11 9225258 9225258 + Nonsense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 9225258 9225258 G A SNP DENND5A ENST00000328194 human ensembl 69_37n -1 known nonsense c.898 p.Q300* 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 52 0 0.00 30 12 28.57 - - - DEPDC5 0 genome.wustl.edu 37 22 32241073 32241073 + Frame_Shift_Del DEL G G - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 32241073 32241073 G - DEL DEPDC5 ENST00000266091 human ensembl 69_37n +1 known frame_shift_del c.2871 p.K957fs 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 169 0 0.00 236 32 11.90 - - - DIDO1 0 genome.wustl.edu 37 20 61513156 61513156 + Silent SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 61513156 61513156 T C SNP DIDO1 ENST00000266070 human ensembl 69_37n -1 known silent c.4152 p.P1384 0.308 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 138 0 0.00 61 16 20.78 - - - DIP2C 0 genome.wustl.edu 37 10 402402 402402 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 402402 402402 G A SNP DIP2C ENST00000280886 human ensembl 69_37n -1 known silent c.2949 p.T983 0.070 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 183 0 0.00 66 9 12.00 - - - DNAH10 0 genome.wustl.edu 37 12 124320025 124320025 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 124320025 124320025 C T SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.4498 p.L1500F 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 384 0 0.00 202 102 33.55 - - - DNAH7 0 genome.wustl.edu 37 2 196737162 196737164 + In_Frame_Del DEL TCA TCA - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 TCA TCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 196737162 196737164 TCA - DEL DNAH7 ENST00000312428 human ensembl 69_37n -1 known in_frame_del c.6445_6443 p.LT2148in_frame_delS 1.000:1.000:0.997 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 182 0 0.00 152 18 10.53 - - - DNAI1 0 genome.wustl.edu 37 9 34500814 34500814 + Silent SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 34500814 34500814 C A SNP DNAI1 ENST00000242317 human ensembl 69_37n +1 known silent c.996 p.R332 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 190 0 0.00 150 80 34.63 - - - DNM2 0 genome.wustl.edu 37 19 10934492 10934492 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 10934492 10934492 G A SNP DNM2 ENST00000314646 human ensembl 69_37n +1 known missense c.1810 p.E604K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM2 HGNC ENSG00000079805 30 0 0.00 10 12 54.55 - - - DOCK2 0 genome.wustl.edu 37 5 169446012 169446013 + Frame_Shift_Ins INS - - T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 169446012 169446013 - T INS DOCK2 ENST00000256935 human ensembl 69_37n +1 known frame_shift_ins c.3281_3282 p.E1094fs 1.000:1.000 superfamily_ARM-type_fold pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 79 0 0.00 96 22 18.64 - - - DOT1L 0 genome.wustl.edu 37 19 2223288 2223288 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 2223288 2223288 C T SNP DOT1L ENST00000440640 human ensembl 69_37n +1 novel missense c.2759 p.T920I 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOT1L HGNC ENSG00000104885 31 0 0.00 1 7 87.50 - - - DYNC1LI2 0 genome.wustl.edu 37 16 66766325 66766325 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 66766325 66766325 C G SNP DYNC1LI2 ENST00000258198 human ensembl 69_37n -1 known missense c.846 p.L282F 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain - no_errors DYNC1LI2 HGNC ENSG00000135720 254 0 0.00 121 79 39.50 - - - ELAVL3 0 genome.wustl.edu 37 19 11577604 11577605 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 11577604 11577605 - C INS ELAVL3 ENST00000359227 human ensembl 69_37n -1 known frame_shift_ins c.48_47 p.A18fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 107 0 0.00 194 24 11.01 - - - ELP2 0 genome.wustl.edu 37 18 33750135 33750135 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 18 33750135 33750135 G T SNP ELP2 ENST00000358232 human ensembl 69_37n +1 known missense c.2186 p.C729F 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 168 0 0.00 165 74 30.96 - - - EMILIN2 0 genome.wustl.edu 37 18 2909793 2909793 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 18 2909793 2909793 G T SNP EMILIN2 ENST00000254528 human ensembl 69_37n +1 known missense c.2800 p.G934W 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 178 0 0.00 74 22 22.92 - - - ENPP4 0 genome.wustl.edu 37 6 46108934 46108934 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 46108934 46108934 T G SNP ENPP4 ENST00000321037 human ensembl 69_37n +1 known missense c.972 p.I324M 0.997 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 243 0 0.00 169 92 34.98 - - - ENTPD7 0 genome.wustl.edu 37 10 101455752 101455752 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 101455752 101455752 G C SNP ENTPD7 ENST00000370489 human ensembl 69_37n +1 known missense c.883 p.G295R 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 223 0 0.00 71 230 76.16 - - - EPB41L3 0 genome.wustl.edu 37 18 5434036 5434036 + Silent SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 18 5434036 5434036 G T SNP EPB41L3 ENST00000341928 human ensembl 69_37n -1 known silent c.690 p.S230 0.998 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L3 HGNC ENSG00000082397 237 0 0.00 200 46 18.62 - - - EPPK1 0 genome.wustl.edu 37 8 144941722 144941722 + Silent SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 144941722 144941722 C G SNP EPPK1 ENST00000525985 human ensembl 69_37n -1 known silent c.5700 p.A1900 0.069 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 193 0 0.00 8 5 38.46 - - - ERGIC1 0 genome.wustl.edu 37 5 172336761 172336761 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 172336761 172336761 G A SNP ERGIC1 ENST00000393784 human ensembl 69_37n +1 known missense c.247 p.E83K 1.000 NULL pfam_DUF1692 - no_errors ERGIC1 HGNC ENSG00000113719 118 0 0.00 62 15 19.48 - - - ESYT3 0 genome.wustl.edu 37 3 138153870 138153870 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 138153870 138153870 G A SNP ESYT3 ENST00000389567 human ensembl 69_37n +1 known missense c.230 p.R77H 0.995 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 27 0 0.00 15 11 42.31 - - - EYS 0 genome.wustl.edu 37 6 64436527 64436527 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 64436527 64436527 C G SNP EYS ENST00000370616 human ensembl 69_37n -1 known missense c.8181 p.W2727C 1.000 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 116 0 0.00 167 36 17.73 - - - FABP2 0 genome.wustl.edu 37 4 120243210 120243210 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 120243210 120243210 G C SNP FABP2 ENST00000274024 human ensembl 69_37n -1 known missense c.48 p.D16E 0.985 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP2 HGNC ENSG00000145384 340 0 0.00 58 275 82.58 - - - FAM131B 0 genome.wustl.edu 37 7 143054107 143054107 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 143054107 143054107 C T SNP FAM131B ENST00000443739 human ensembl 69_37n -1 known missense c.619 p.A207T 0.985 NULL NULL - no_errors FAM131B HGNC ENSG00000159784 45 0 0.00 28 14 33.33 - - - FAM169A 0 genome.wustl.edu 37 5 74109758 74109758 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 74109758 74109758 C A SNP FAM169A ENST00000389156 human ensembl 69_37n -1 known missense c.577 p.D193Y 1.000 NULL NULL - no_errors FAM169A HGNC ENSG00000198780 153 0 0.00 72 118 62.11 - - - FAM179A 0 genome.wustl.edu 37 2 29259480 29259480 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 29259480 29259480 C T SNP FAM179A ENST00000379558 human ensembl 69_37n +1 known missense c.2492 p.A831V 0.011 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 235 0 0.00 134 79 37.09 - - - FAM193B 0 genome.wustl.edu 37 5 176963678 176963678 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 176963678 176963678 C T SNP FAM193B ENST00000443375 human ensembl 69_37n -1 known missense c.418 p.G140S 0.994 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 123 0 0.00 83 28 25.23 - - - FAM208B 0 genome.wustl.edu 37 10 5791187 5791187 + Missense_Mutation SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 5791187 5791187 A C SNP FAM208B ENST00000328090 human ensembl 69_37n +1 known missense c.5803 p.K1935Q 0.242 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 45 0 0.00 20 96 82.76 - - - FAM221B 0 genome.wustl.edu 37 9 35819000 35819000 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 35819000 35819000 C T SNP FAM221B ENST00000423537 human ensembl 69_37n -1 known missense c.1058 p.C353Y 0.310 NULL NULL - no_errors FAM221B HGNC ENSG00000204930 130 0 0.00 102 35 25.55 - - - FAM26E 0 genome.wustl.edu 37 6 116832913 116832913 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 116832913 116832913 T G SNP FAM26E ENST00000368599 human ensembl 69_37n +1 known missense c.54 p.I18M 0.993 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 245 0 0.00 158 37 18.97 - - - FAM53B 0 genome.wustl.edu 37 10 126370309 126370310 + Frame_Shift_Ins INS - - CCAA TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 126370309 126370310 - CCAA INS FAM53B ENST00000337318 human ensembl 69_37n -1 known frame_shift_ins c.773_772 p.R258fs 0.688:0.034 NULL NULL - no_errors FAM53B HGNC ENSG00000189319 61 0 0.00 28 8 22.22 - - - FAM5B 0 genome.wustl.edu 37 1 177245552 177245552 + Silent SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 177245552 177245552 C A SNP FAM5B ENST00000361539 human ensembl 69_37n +1 known silent c.994 p.R332 0.938 NULL pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC ENSG00000198797 67 0 0.00 44 15 25.42 - - - FAT2 0 genome.wustl.edu 37 5 150946624 150946624 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 150946624 150946624 G A SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known silent c.1869 p.R623 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 308 0 0.00 149 37 19.89 - - - FBLN2 0 genome.wustl.edu 37 3 13661229 13661229 + Splice_Site SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 13661229 13661229 G A SNP FBLN2 ENST00000404922 human ensembl 69_37n +1 known splice_site c.2054-1 e7-1 1.000 - - - no_errors FBLN2 HGNC ENSG00000163520 210 0 0.00 68 14 17.07 - - - FBLN2 0 genome.wustl.edu 37 3 13661249 13661249 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 13661249 13661249 G A SNP FBLN2 ENST00000404922 human ensembl 69_37n +1 known silent c.2073 p.Q691 1.000 smart_EGF-like pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 222 0 0.00 81 17 17.35 - - - FBLN2 0 genome.wustl.edu 37 3 13661268 13661268 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 13661268 13661268 G A SNP FBLN2 ENST00000404922 human ensembl 69_37n +1 known missense c.2092 p.G698S 0.002 smart_EGF-like pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 236 0 0.00 92 14 13.21 - - - FHAD1 0 genome.wustl.edu 37 1 15707257 15707257 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 15707257 15707257 G T SNP FHAD1 ENST00000375999 human ensembl 69_37n +1 known missense c.3700 p.D1234Y 0.073 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 91 0 0.00 44 24 35.29 - - - FILIP1 0 genome.wustl.edu 37 6 76022557 76022557 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 76022557 76022557 G A SNP FILIP1 ENST00000237172 human ensembl 69_37n -1 known silent c.2991 p.G997 0.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 229 0 0.00 357 118 24.69 - - - FLT3LG 0 genome.wustl.edu 37 19 49982165 49982166 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 49982165 49982166 - C INS FLT3LG ENST00000204637 human ensembl 69_37n +1 known frame_shift_ins c.344_343 p.S118fs 1.000:1.000 pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core - no_errors FLT3LG HGNC ENSG00000090554 39 0 0.00 48 6 11.11 - - - FOXH1 0 genome.wustl.edu 37 8 145699932 145699932 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 145699932 145699932 C T SNP FOXH1 ENST00000377317 human ensembl 69_37n -1 known missense c.787 p.G263R 0.002 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXH1 HGNC ENSG00000160973 26 0 0.00 6 8 57.14 - - - FOXRED1 0 genome.wustl.edu 37 11 126145245 126145245 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 126145245 126145245 G C SNP FOXRED1 ENST00000263578 human ensembl 69_37n +1 known missense c.655 p.D219H 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors FOXRED1 HGNC ENSG00000110074 297 0 0.00 127 15 10.56 - - - FSTL4 0 genome.wustl.edu 37 5 132560879 132560879 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 132560879 132560879 G C SNP FSTL4 ENST00000265342 human ensembl 69_37n -1 known missense c.1275 p.I425M 0.997 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL4 HGNC ENSG00000053108 205 0 0.00 101 28 21.54 - - - GALNT5 0 genome.wustl.edu 37 2 158114775 158114775 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 158114775 158114775 C T SNP GALNT5 ENST00000259056 human ensembl 69_37n +1 known missense c.181 p.P61S 0.997 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 214 0 0.00 75 177 70.24 - - - GALNTL5 0 genome.wustl.edu 37 7 151680081 151680081 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 151680081 151680081 A G SNP GALNTL5 ENST00000392800 human ensembl 69_37n +1 known missense c.379 p.K127E 0.056 NULL pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 134 0 0.00 108 61 36.09 - - - GALR3 0 genome.wustl.edu 37 22 38219626 38219626 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 38219626 38219626 C - DEL GALR3 ENST00000249041 human ensembl 69_37n +1 known frame_shift_del c.213 p.F71fs 1.000 pfam_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Galnin_3_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors GALR3 HGNC ENSG00000128310 90 0 0.00 26 4 12.90 - - - GARNL3 0 genome.wustl.edu 37 9 130155392 130155392 + Silent SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 130155392 130155392 T A SNP GARNL3 ENST00000373387 human ensembl 69_37n +1 known silent c.2901 p.S967 0.000 NULL pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP - no_errors GARNL3 HGNC ENSG00000136895 101 0 0.00 44 9 16.98 - - - GATA4 0 genome.wustl.edu 37 8 11612575 11612575 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 11612575 11612575 G A SNP GATA4 ENST00000335135 human ensembl 69_37n +1 known missense c.930 p.M310I 1.000 smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA4 HGNC ENSG00000136574 121 0 0.00 52 9 14.75 - - - GCNT4 0 genome.wustl.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 74324982 74324983 - G INS GCNT4 ENST00000322348 human ensembl 69_37n -1 known frame_shift_ins c.881_880 p.H294fs 0.920:0.913 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 105 0 0.00 56 7 11.11 - - - GLB1L3 0 genome.wustl.edu 37 11 134181008 134181008 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 134181008 134181008 C G SNP GLB1L3 ENST00000431683 human ensembl 69_37n +1 known missense c.1231 p.P411A 0.000 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 162 0 0.00 82 13 13.68 - - - GLP2R 0 genome.wustl.edu 37 17 9793011 9793011 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 9793011 9793011 A T SNP GLP2R ENST00000262441 human ensembl 69_37n +1 known missense c.1651 p.S551C 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 50 0 0.00 25 13 34.21 - - - GOLGA2P5 0 genome.wustl.edu 37 12 100552747 100552747 + RNA SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 100552747 100552747 G A SNP GOLGA2P5 ENST00000397112 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors GOLGA2P5 HGNC ENSG00000238105 42 0 0.00 25 6 19.35 - - - GOT1 0 genome.wustl.edu 37 10 101157315 101157315 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 101157315 101157315 T G SNP GOT1 ENST00000370508 human ensembl 69_37n -1 known missense c.1231 p.K411Q 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans - no_errors GOT1 HGNC ENSG00000120053 287 0 0.00 244 39 13.78 - - - GOT1 0 genome.wustl.edu 37 10 101157317 101157318 + Frame_Shift_Ins INS - - A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 101157317 101157318 - A INS GOT1 ENST00000370508 human ensembl 69_37n -1 known frame_shift_ins c.1229_1228 p.T410fs 1.000:1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans - no_errors GOT1 HGNC ENSG00000120053 285 0 0.00 241 34 12.36 - - - GPATCH8 0 genome.wustl.edu 37 17 42475662 42475662 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 42475662 42475662 C G SNP GPATCH8 ENST00000591680 human ensembl 69_37n -1 known missense c.3783 p.Q1261H 0.033 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 126 0 0.00 211 85 28.43 - - - GPR42 0 genome.wustl.edu 37 19 35862267 35862267 + Silent SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 35862267 35862267 T C SNP GPR42 ENST00000454971 human ensembl 69_37n +1 known silent c.6 p.D2 0.002 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors GPR42 HGNC ENSG00000126251 26 0 0.00 33 17 34.00 - - - GRB2 0 genome.wustl.edu 37 17 73389776 73389776 + RNA SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 73389776 73389776 C A SNP GRB2 ENST00000583912 human ensembl 69_37n -1 known rna NULL NULL 0.961 - - - no_errors GRB2 HGNC ENSG00000177885 118 0 0.00 194 23 10.60 - - - GUSB 0 genome.wustl.edu 37 7 65441060 65441063 + Frame_Shift_Del DEL ACAC ACAC - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 ACAC ACAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 65441060 65441063 ACAC - DEL GUSB ENST00000304895 human ensembl 69_37n -1 known frame_shift_del c.854_851 p.G284fs 0.828:0.831:0.030:0.006 pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 35 0 0.00 7 4 36.36 - - - HECTD4 0 genome.wustl.edu 37 12 112677797 112677797 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 112677797 112677797 G C SNP HECTD4 ENST00000377560 human ensembl 69_37n -1 known missense c.4477 p.Q1493E 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 143 0 0.00 104 43 29.25 - - - HEG1 0 genome.wustl.edu 37 3 124731785 124731785 + Nonsense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 124731785 124731785 G A SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known nonsense c.2638 p.Q880* 0.014 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 360 0 0.00 210 292 57.82 - - - HEG1 0 genome.wustl.edu 37 3 124731786 124731786 + Silent SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 124731786 124731786 T C SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known silent c.2637 p.K879 0.004 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 356 0 0.00 213 284 57.03 - - - HERC2P8 0 genome.wustl.edu 37 16 33123885 33123885 + RNA SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 33123885 33123885 G A SNP HERC2P8 ENST00000567073 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HERC2P8 HGNC ENSG00000261599 84 0 0.00 48 23 32.39 - - - HKDC1 0 genome.wustl.edu 37 10 71003105 71003105 + Missense_Mutation SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 71003105 71003105 A C SNP HKDC1 ENST00000354624 human ensembl 69_37n +1 known missense c.859 p.N287H 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 75 0 0.00 42 21 33.33 - - - HMGXB4 0 genome.wustl.edu 37 22 35684386 35684386 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 35684386 35684386 C A SNP HMGXB4 ENST00000216106 human ensembl 69_37n +1 known missense c.1624 p.L542M 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB4 HGNC ENSG00000100281 184 0 0.00 181 40 18.10 - - - HOMER3 0 genome.wustl.edu 37 19 19042357 19042357 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 19042357 19042357 C - DEL HOMER3 ENST00000392351 human ensembl 69_37n -1 known frame_shift_del c.768 p.L257fs 0.071 NULL pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER3 HGNC ENSG00000051128 32 0 0.00 13 30 69.77 - - - HOMER3 0 genome.wustl.edu 37 19 19042364 19042364 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 19042364 19042364 C G SNP HOMER3 ENST00000392351 human ensembl 69_37n -1 known missense c.761 p.G254A 0.721 NULL pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors HOMER3 HGNC ENSG00000051128 27 0 0.00 11 29 72.50 - - - HPS3 0 genome.wustl.edu 37 3 148871420 148871420 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 148871420 148871420 C - DEL HPS3 ENST00000296051 human ensembl 69_37n +1 known frame_shift_del c.1385 p.S462fs 0.949 pirsf_BLOC-2_complex_Hps3_subunit pirsf_BLOC-2_complex_Hps3_subunit - no_errors HPS3 HGNC ENSG00000163755 183 0 0.00 295 42 12.46 - - - HSPG2 0 genome.wustl.edu 37 1 22155911 22155911 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 22155911 22155911 C - DEL HSPG2 ENST00000374695 human ensembl 69_37n -1 known frame_shift_del c.11957 p.G3986fs 0.800 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 36 0 0.00 3 2 40.00 - - - ICAM4 0 genome.wustl.edu 37 19 10398857 10398857 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 10398857 10398857 C - DEL ICAM4 ENST00000340992 human ensembl 69_37n +1 known frame_shift_del c.816 p.*273fs 0.003 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 60 0 0.00 33 9 21.43 - - - IGF2R 0 genome.wustl.edu 37 6 160509069 160509069 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 160509069 160509069 C G SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known missense c.6210 p.D2070E 0.931 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 133 0 0.00 33 50 60.24 - - - IGHM 0 genome.wustl.edu 37 14 106320677 106320677 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 106320677 106320677 A G SNP IGHM ENST00000390559 human ensembl 69_37n -1 known missense c.1133 p.V378A 0.367 pfam_Ig_C1-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHM HGNC ENSG00000211899 76 0 0.00 28 28 49.12 - - - IGKV1D-8 0 genome.wustl.edu 37 2 90259989 90259989 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 90259989 90259989 C T SNP IGKV1D-8 ENST00000471857 human ensembl 69_37n +1 known missense c.92 p.S31F 0.013 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1D-8 HGNC ENSG00000239819 293 0 0.00 216 32 12.90 - - - IGKV1D-8 0 genome.wustl.edu 37 2 90259990 90259990 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 90259990 90259990 C T SNP IGKV1D-8 ENST00000471857 human ensembl 69_37n +1 known silent c.93 p.S31 0.004 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1D-8 HGNC ENSG00000239819 295 1 0.34 221 43 16.29 - - - IL4R 0 genome.wustl.edu 37 16 27373644 27373644 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 27373644 27373644 C A SNP IL4R ENST00000170630 human ensembl 69_37n +1 known missense c.971 p.P324H 0.000 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 182 0 0.00 102 79 43.17 - - - INPPL1 0 genome.wustl.edu 37 11 71939469 71939469 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 71939469 71939469 C T SNP INPPL1 ENST00000298229 human ensembl 69_37n +1 known silent c.324 p.G108 0.999 smart_SH2,pfscan_SH2 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 73 0 0.00 69 18 20.45 - - - INSR 0 genome.wustl.edu 37 19 7122974 7122974 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 7122974 7122974 C T SNP INSR ENST00000302850 human ensembl 69_37n -1 known silent c.3285 p.K1095 0.997 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors INSR HGNC ENSG00000171105 50 0 0.00 25 21 45.65 - - - IQCH 0 genome.wustl.edu 37 15 67555536 67555536 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 15 67555536 67555536 C T SNP IQCH ENST00000335894 human ensembl 69_37n +1 known missense c.251 p.T84I 0.003 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 145 0 0.00 31 28 47.46 - - - IRAK1 0 genome.wustl.edu 37 X 153284647 153284648 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 153284647 153284648 - G INS IRAK1 ENST00000369980 human ensembl 69_37n -1 known frame_shift_ins c.437_436 p.P148fs 0.998:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK1 HGNC ENSG00000184216 70 0 0.00 13 6 31.58 - - - IRAK4 0 genome.wustl.edu 37 12 44176156 44176156 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 44176156 44176156 T G SNP IRAK4 ENST00000448290 human ensembl 69_37n +1 known missense c.988 p.F330V 1.000 pirsf_Interleukin-1_rcpt-assoc_kin4,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 pirsf_Interleukin-1_rcpt-assoc_kin4,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-like,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 IRAK4 HGNC ENSG00000198001 183 0 0.00 128 95 42.60 - - - ITIH2 0 genome.wustl.edu 37 10 7769757 7769757 + Silent SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 7769757 7769757 G C SNP ITIH2 ENST00000358415 human ensembl 69_37n +1 known silent c.1245 p.L415 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 243 0 0.00 1135 173 13.20 - - - ITPR3 0 genome.wustl.edu 37 6 33648127 33648127 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 33648127 33648127 T C SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known missense c.4246 p.F1416L 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR3 HGNC ENSG00000096433 74 0 0.00 54 36 40.00 - - - JAK2 0 genome.wustl.edu 37 9 5022151 5022151 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 5022151 5022151 T C SNP JAK2 ENST00000381652 human ensembl 69_37n +1 known missense c.164 p.L55P 0.650 smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 275 0 0.00 492 372 43.06 - - - JPH4 0 genome.wustl.edu 37 14 24040435 24040436 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 24040435 24040436 - C INS JPH4 ENST00000356300 human ensembl 69_37n -1 known frame_shift_ins c.1505_1504 p.A502fs 0.051:0.057 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 22 0 0.00 34 8 19.05 - - - JUP 0 genome.wustl.edu 37 17 39777038 39777038 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 39777038 39777038 G T SNP JUP ENST00000540235 human ensembl 69_37n -1 known missense c.1531 p.Q511K 1.000 pfam_F,prints_Keratin_I pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 84 0 0.00 76 25 24.75 - - - JUP 0 genome.wustl.edu 37 17 39779221 39779221 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 39779221 39779221 C A SNP JUP ENST00000540235 human ensembl 69_37n -1 known missense c.973 p.A325S 1.000 pfam_F,prints_Keratin_I pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 264 0 0.00 128 41 24.26 - - - KCNB1 0 genome.wustl.edu 37 20 47991007 47991008 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 47991007 47991008 - G INS KCNB1 ENST00000371741 human ensembl 69_37n -1 known frame_shift_ins c.1090_1089 p.I363fs 1.000:1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 53 0 0.00 40 10 20.00 - - - KCNJ11 0 genome.wustl.edu 37 11 17408699 17408699 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 17408699 17408699 G T SNP KCNJ11 ENST00000339994 human ensembl 69_37n -1 known missense c.940 p.R314S 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 138 0 0.00 63 8 11.27 - - - KIAA0754 0 genome.wustl.edu 37 1 39878587 39878587 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 39878587 39878587 C G SNP KIAA0754 ENST00000530275 human ensembl 69_37n +1 known missense c.2242 p.L748V 0.002 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 112 0 0.00 80 67 45.58 - - - KIAA0825 0 genome.wustl.edu 37 5 93798258 93798260 + In_Frame_Del DEL TTG TTG - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 93798258 93798260 TTG - DEL KIAA0825 ENST00000427991 human ensembl 69_37n -1 known in_frame_del c.2080_2078 p.T693in_frame_del 1.000:0.999:1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 136 0 0.00 21 38 62.30 - - - KIAA0913 0 genome.wustl.edu 37 10 75560463 75560464 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 75560463 75560464 - C INS KIAA0913 ENST00000398706 human ensembl 69_37n +1 known frame_shift_ins c.5092_5093 p.Y1701fs 1.000:1.000 NULL pfscan_Znf_SWIM - no_errors KIAA0913 HGNC ENSG00000214655 254 0 0.00 137 17 11.04 - - - KIAA0947 0 genome.wustl.edu 37 5 5469096 5469096 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 5469096 5469096 G A SNP KIAA0947 ENST00000296564 human ensembl 69_37n +1 known missense c.6217 p.E2073K 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 250 0 0.00 149 17 10.24 - - - KIAA1210 0 genome.wustl.edu 37 X 118222228 118222228 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 118222228 118222228 G A SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.2965 p.P989S 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 151 0 0.00 126 37 22.56 - - - KIAA1210 0 genome.wustl.edu 37 X 118222231 118222231 + Nonsense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 118222231 118222231 G A SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known nonsense c.2962 p.Q988* 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 154 0 0.00 130 44 25.29 - - - KIAA1210 0 genome.wustl.edu 37 X 118222237 118222237 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 118222237 118222237 G A SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.2956 p.L986F 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 166 0 0.00 130 50 27.78 - - - KIAA1210 0 genome.wustl.edu 37 X 118222419 118222421 + In_Frame_Del DEL TGC TGC - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 118222419 118222421 TGC - DEL KIAA1210 ENST00000402510 human ensembl 69_37n -1 known in_frame_del c.2774_2772 p.Q926in_frame_del 0.002:0.003:0.001 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 204 0 0.00 194 24 11.01 - - - KIAA1239 0 genome.wustl.edu 37 4 37445634 37445634 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 37445634 37445634 T G SNP KIAA1239 ENST00000309447 human ensembl 69_37n +1 known missense c.2024 p.M675R 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 119 0 0.00 64 40 38.46 - - - KIAA1731 0 genome.wustl.edu 37 11 93432885 93432885 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 93432885 93432885 A T SNP KIAA1731 ENST00000411936 human ensembl 69_37n +1 known missense c.4807 p.M1603L 0.002 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 73 0 0.00 105 19 15.32 - - - KIAA2013 0 genome.wustl.edu 37 1 11982630 11982630 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 11982630 11982630 C T SNP KIAA2013 ENST00000376576 human ensembl 69_37n -1 known silent c.1950 p.R650 0.006 NULL pfam_DUF2152 - no_errors KIAA2013 HGNC ENSG00000116685 72 0 0.00 11 37 77.08 - - - KIDINS220 0 genome.wustl.edu 37 2 8871974 8871975 + Frame_Shift_Ins INS - - A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 8871974 8871975 - A INS KIDINS220 ENST00000256707 human ensembl 69_37n -1 known frame_shift_ins c.4192_4191 p.E1397fs 1.000:1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 170 0 0.00 84 21 20.00 - - - KIDINS220 0 genome.wustl.edu 37 2 8871980 8871980 + Frame_Shift_Del DEL G G - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 8871980 8871980 G - DEL KIDINS220 ENST00000256707 human ensembl 69_37n -1 known frame_shift_del c.4186 p.Q1396fs 1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 171 0 0.00 69 21 23.08 - - - KLK15 0 genome.wustl.edu 37 19 51330210 51330210 + Silent SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 51330210 51330210 C A SNP KLK15 ENST00000326856 human ensembl 69_37n -1 known silent c.405 p.G135 0.003 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 26 0 0.00 29 29 50.00 - - - KLK15 0 genome.wustl.edu 37 19 51330212 51330212 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 51330212 51330212 C T SNP KLK15 ENST00000326856 human ensembl 69_37n -1 known missense c.403 p.G135R 0.750 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 26 0 0.00 30 28 48.28 - - - KRTAP4-1 0 genome.wustl.edu 37 17 39340725 39340725 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 39340725 39340725 G C SNP KRTAP4-1 ENST00000398472 human ensembl 69_37n -1 known missense c.382 p.Q128E 0.910 NULL pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC ENSG00000198443 70 0 0.00 51 15 22.73 - - - LAMTOR2 0 genome.wustl.edu 37 1 156025001 156025001 + RNA SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 156025001 156025001 A T SNP LAMTOR2 ENST00000487106 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR2 HGNC ENSG00000116586 31 0 0.00 13 117 89.31 - - - LATS1 0 genome.wustl.edu 37 6 149983176 149983176 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 149983176 149983176 G C SNP LATS1 ENST00000253339 human ensembl 69_37n -1 known missense c.3082 p.P1028A 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC ENSG00000131023 166 0 0.00 107 52 32.70 - - - LBR 0 genome.wustl.edu 37 1 225599115 225599115 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 225599115 225599115 C T SNP LBR ENST00000272163 human ensembl 69_37n -1 known missense c.1112 p.G371D 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 255 0 0.00 701 102 12.67 - - - LCE1C 0 genome.wustl.edu 37 1 152777833 152777833 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 152777833 152777833 G A SNP LCE1C ENST00000368768 human ensembl 69_37n -1 known missense c.122 p.S41F 1.000 NULL NULL - no_errors LCE1C HGNC ENSG00000197084 219 0 0.00 347 162 31.76 - - - LEMD3 0 genome.wustl.edu 37 12 65563384 65563385 + Frame_Shift_Ins INS - - T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 65563384 65563385 - T INS LEMD3 ENST00000308330 human ensembl 69_37n +1 known frame_shift_ins c.8_9 p.A4fs 1.000:0.999 NULL pfam_Inner-Nucl-membr_MAN1,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors LEMD3 HGNC ENSG00000174106 12 0 0.00 5 4 44.44 - - - LIG4 0 genome.wustl.edu 37 13 108862659 108862659 + Nonsense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 13 108862659 108862659 T A SNP LIG4 ENST00000356922 human ensembl 69_37n -1 known nonsense c.958 p.K320* 0.021 pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 171 0 0.00 105 18 14.63 - - - LOXL3 0 genome.wustl.edu 37 2 74763923 74763924 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 74763923 74763924 - C INS LOXL3 ENST00000264094 human ensembl 69_37n -1 known frame_shift_ins c.825_824 p.A277fs 0.118:0.001 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors LOXL3 HGNC ENSG00000115318 78 0 0.00 93 14 13.08 - - - LRP1 0 genome.wustl.edu 37 12 57603939 57603940 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 57603939 57603940 - C INS LRP1 ENST00000243077 human ensembl 69_37n +1 known frame_shift_ins c.12567_12568 p.D4192fs 0.037:0.113 superfamily_Growth_fac_rcpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 59 0 0.00 55 8 12.70 - - - LRP6 0 genome.wustl.edu 37 12 12334290 12334290 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 12334290 12334290 G A SNP LRP6 ENST00000261349 human ensembl 69_37n -1 known silent c.1060 p.L354 0.974 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 120 0 0.00 140 59 29.65 - - - LRRC28 0 genome.wustl.edu 37 15 99874329 99874329 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 15 99874329 99874329 C G SNP LRRC28 ENST00000301981 human ensembl 69_37n +1 known missense c.587 p.P196R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 223 0 0.00 343 45 11.60 - - - LRRC37A6P 0 genome.wustl.edu 37 10 27540093 27540093 + RNA SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 27540093 27540093 G A SNP LRRC37A6P ENST00000574795 human ensembl 69_37n -1 known rna NULL NULL 0.018 - - - no_errors LRRC37A6P HGNC ENSG00000230445 17 0 0.00 10 6 37.50 - - - LRRC4 0 genome.wustl.edu 37 7 127670238 127670238 + Silent SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 127670238 127670238 G T SNP LRRC4 ENST00000249363 human ensembl 69_37n -1 known silent c.456 p.L152 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4 HGNC ENSG00000128594 155 0 0.00 34 13 27.08 - - - LRRC4 0 genome.wustl.edu 37 7 127670241 127670241 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 127670241 127670241 C A SNP LRRC4 ENST00000249363 human ensembl 69_37n -1 known missense c.453 p.E151D 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4 HGNC ENSG00000128594 155 0 0.00 34 15 30.61 - - - LRRD1 0 genome.wustl.edu 37 7 91779947 91779947 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 91779947 91779947 A T SNP LRRD1 ENST00000430130 human ensembl 69_37n -1 known missense c.2179 p.F727I 1.000 NULL pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC ENSG00000240720 213 0 0.00 111 22 16.54 - - - LRSAM1 0 genome.wustl.edu 37 9 130245270 130245271 + Frame_Shift_Del DEL CT CT - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 130245270 130245271 CT - DEL LRSAM1 ENST00000300417 human ensembl 69_37n +1 known frame_shift_del c.1130_1131 p.T377fs 0.981:0.571 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 282 0 0.00 159 34 17.17 - - - LTBP1 0 genome.wustl.edu 37 2 33518252 33518252 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 33518252 33518252 C G SNP LTBP1 ENST00000354476 human ensembl 69_37n +1 known missense c.3141 p.N1047K 0.001 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 171 0 0.00 92 54 36.99 - - - LYST 0 genome.wustl.edu 37 1 235875443 235875443 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 235875443 235875443 C G SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.9839 p.R3280P 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 64 0 0.00 50 6 10.71 - - - MAD1L1 0 genome.wustl.edu 37 7 2054170 2054170 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 2054170 2054170 C - DEL MAD1L1 ENST00000265854 human ensembl 69_37n -1 known frame_shift_del c.1326 p.Q443fs 0.999 pfam_MAD pfam_MAD - no_errors MAD1L1 HGNC ENSG00000002822 19 0 0.00 3 2 40.00 - - - MAD2L2 0 genome.wustl.edu 37 1 11740518 11740519 + In_Frame_Ins INS - - ATT TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 11740518 11740519 - ATT INS MAD2L2 ENST00000376669 human ensembl 69_37n -1 known in_frame_ins c.51_50 p.D17in_frame_insEI 0.940:1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L2 HGNC ENSG00000116670 56 0 0.00 24 10 29.41 - - - MAD2L2 0 genome.wustl.edu 37 1 11740524 11740525 + Frame_Shift_Del DEL CA CA - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 11740524 11740525 CA - DEL MAD2L2 ENST00000376669 human ensembl 69_37n -1 known frame_shift_del c.45_44 p.V15fs 1.000:1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L2 HGNC ENSG00000116670 52 0 0.00 21 8 26.67 - - - MAG 0 genome.wustl.edu 37 19 35802828 35802828 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 35802828 35802828 G A SNP MAG ENST00000392213 human ensembl 69_37n +1 known missense c.1624 p.V542M 0.986 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MAG HGNC ENSG00000105695 35 0 0.00 29 17 36.96 - - - MAGI2 0 genome.wustl.edu 37 7 77764386 77764386 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 77764386 77764386 T A SNP MAGI2 ENST00000354212 human ensembl 69_37n -1 known missense c.2983 p.I995F 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 162 0 0.00 63 45 41.67 - - - MAMLD1 0 genome.wustl.edu 37 X 149639505 149639505 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 149639505 149639505 C T SNP MAMLD1 ENST00000432680 human ensembl 69_37n +1 known missense c.1585 p.P529S 0.436 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 172 0 0.00 70 12 14.63 - - - MAP4K2 0 genome.wustl.edu 37 11 64569272 64569272 + RNA SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 64569272 64569272 G T SNP MAP4K2 ENST00000493428 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MAP4K2 HGNC ENSG00000168067 61 0 0.00 6 4 40.00 - - - MAPRE3 0 genome.wustl.edu 37 2 27248516 27248517 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 27248516 27248517 - C INS MAPRE3 ENST00000233121 human ensembl 69_37n +1 known frame_shift_ins c.535_536 p.C182fs 0.999:1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 78 0 0.00 64 10 13.51 - - - MAST3 0 genome.wustl.edu 37 19 18254639 18254639 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 18254639 18254639 C T SNP MAST3 ENST00000262811 human ensembl 69_37n +1 known silent c.2319 p.P773 0.992 NULL 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 MAST3 HGNC ENSG00000099308 65 0 0.00 15 6 28.57 - - - MCAM 0 genome.wustl.edu 37 11 119183561 119183561 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 119183561 119183561 G C SNP MCAM ENST00000264036 human ensembl 69_37n -1 known missense c.658 p.Q220E 0.986 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MCAM HGNC ENSG00000076706 149 0 0.00 40 26 39.39 - - - MCM3AP 0 genome.wustl.edu 37 21 47663396 47663397 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 21 47663396 47663397 - G INS MCM3AP ENST00000291688 human ensembl 69_37n -1 known frame_shift_ins c.5279_5278 p.R1760fs 0.278:0.019 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 60 0 0.00 41 5 10.87 - - - MCM5 0 genome.wustl.edu 37 22 35815944 35815944 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 35815944 35815944 A T SNP MCM5 ENST00000216122 human ensembl 69_37n +1 known missense c.1771 p.S591C 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 31 0 0.00 13 4 21.05 - - - MCOLN2 0 genome.wustl.edu 37 1 85405236 85405236 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 85405236 85405236 C T SNP MCOLN2 ENST00000370608 human ensembl 69_37n -1 known silent c.1110 p.K370 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 100 0 0.00 48 157 76.59 - - - MDC1 0 genome.wustl.edu 37 6 30673139 30673139 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 30673139 30673139 T C SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known missense c.3821 p.N1274S 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 307 1 0.32 458 51 10.00 - - - MDN1 0 genome.wustl.edu 37 6 90397097 90397097 + Nonsense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 90397097 90397097 G A SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known nonsense c.11416 p.Q3806* 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 164 0 0.00 58 61 51.26 - - - MEFV 0 genome.wustl.edu 37 16 3293337 3293337 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 3293337 3293337 C T SNP MEFV ENST00000219596 human ensembl 69_37n -1 known missense c.2150 p.R717H 0.028 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 198 1 0.50 60 57 48.72 - - - METTL8 0 genome.wustl.edu 37 2 172195922 172195922 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 172195922 172195922 T A SNP METTL8 ENST00000392604 human ensembl 69_37n -1 known missense c.378 p.R126S 0.027 NULL pfam_Methyltransf_11 - no_errors METTL8 HGNC ENSG00000123600 258 0 0.00 70 449 85.52 - - - MGAT4A 0 genome.wustl.edu 37 2 99343017 99343017 + RNA SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 99343017 99343017 G C SNP MGAT4A ENST00000460768 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MGAT4A HGNC ENSG00000071073 16 0 0.00 9 4 30.77 - - - MGRN1 0 genome.wustl.edu 37 16 4723519 4723519 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 4723519 4723519 C G SNP MGRN1 ENST00000262370 human ensembl 69_37n +1 known missense c.816 p.S272R 0.988 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 66 0 0.00 31 21 40.38 - - - MICALL2 0 genome.wustl.edu 37 7 1474082 1474082 + RNA SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 1474082 1474082 G A SNP MICALL2 ENST00000471899 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MICALL2 HGNC ENSG00000164877 54 0 0.00 11 35 76.09 - - - MICALL2 0 genome.wustl.edu 37 7 1474084 1474085 + RNA DEL CC CC - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 1474084 1474085 CC - DEL MICALL2 ENST00000471899 human ensembl 69_37n -1 known rna NULL NULL 0.013:0.015 - - - no_errors MICALL2 HGNC ENSG00000164877 52 0 0.00 10 35 74.47 - - - MIR27B 0 genome.wustl.edu 37 9 97847768 97847768 + RNA SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 97847768 97847768 G T SNP MIR27B ENST00000385129 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR27B HGNC ENSG00000207864 138 0 0.00 24 7 22.58 - - - MIR497HG 0 genome.wustl.edu 37 17 6920924 6920924 + RNA SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 6920924 6920924 C G SNP MIR497HG ENST00000572453 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MIR497HG HGNC ENSG00000267532 46 0 0.00 30 26 46.43 - - - MIR497HG 0 genome.wustl.edu 37 17 6921127 6921127 + RNA SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 6921127 6921127 G A SNP MIR497HG ENST00000572453 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors MIR497HG HGNC ENSG00000267532 45 0 0.00 59 85 59.03 - - - MIR497HG 0 genome.wustl.edu 37 17 6921128 6921128 + RNA SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 6921128 6921128 C G SNP MIR497HG ENST00000572453 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors MIR497HG HGNC ENSG00000267532 45 0 0.00 30 76 56.72 - - - MIR497HG 0 genome.wustl.edu 37 17 6921131 6921133 + RNA DEL ACA ACA - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 6921131 6921133 ACA - DEL MIR497HG ENST00000572453 human ensembl 69_37n -1 known rna NULL NULL 0.001:0.003:0.000 - - - no_errors MIR497HG HGNC ENSG00000267532 41 0 0.00 28 12 30.00 - - - MIR519E 0 genome.wustl.edu 37 19 54183218 54183218 + RNA SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 54183218 54183218 G A SNP MIR519E ENST00000385075 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors MIR519E HGNC ENSG00000207810 277 0 0.00 377 632 62.57 - - - MIR519E 0 genome.wustl.edu 37 19 54183219 54183219 + RNA SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 54183219 54183219 G A SNP MIR519E ENST00000385075 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors MIR519E HGNC ENSG00000207810 276 0 0.00 382 604 61.26 - - - MLL2 0 genome.wustl.edu 37 12 49420223 49420223 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 49420223 49420223 G T SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known missense c.15526 p.H5176N 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 58 0 0.00 26 8 22.86 - - - MLL3 0 genome.wustl.edu 37 7 151860091 151860091 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 151860091 151860091 A G SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.10571 p.V3524A 0.069 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 196 0 0.00 160 47 22.49 - - - MRC2 0 genome.wustl.edu 37 17 60749168 60749168 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 60749168 60749168 C G SNP MRC2 ENST00000303375 human ensembl 69_37n +1 known missense c.1276 p.L426V 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors MRC2 HGNC ENSG00000011028 22 0 0.00 6 26 81.25 - - - MSRB3 0 genome.wustl.edu 37 12 65720647 65720647 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 65720647 65720647 C A SNP MSRB3 ENST00000355192 human ensembl 69_37n +1 known missense c.139 p.Q47K 1.000 superfamily_Mss4-like,tigrfam_Methionine_sulphoxide_MsrB pfam_Methionine_sulphoxide_MsrB,superfamily_Mss4-like,tigrfam_Methionine_sulphoxide_MsrB - no_errors MSRB3 HGNC ENSG00000174099 162 1 0.61 152 41 21.24 - - - MT1H 0 genome.wustl.edu 37 16 56704477 56704477 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 56704477 56704477 A G SNP MT1H ENST00000332374 human ensembl 69_37n +1 known missense c.88 p.K30E 1.000 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1H HGNC ENSG00000205358 191 0 0.00 66 27 29.03 - - - MTSS1 0 genome.wustl.edu 37 8 125601952 125601952 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 125601952 125601952 G T SNP MTSS1 ENST00000518547 human ensembl 69_37n -1 known missense c.294 p.S98R 0.996 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 121 0 0.00 208 25 10.68 - - - MUL1 0 genome.wustl.edu 37 1 20827667 20827667 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 20827667 20827667 C A SNP MUL1 ENST00000264198 human ensembl 69_37n -1 known missense c.575 p.G192V 1.000 pfam_GIDE pfam_GIDE,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 67 0 0.00 24 19 44.19 - - - MUL1 0 genome.wustl.edu 37 1 20827672 20827672 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 20827672 20827672 C A SNP MUL1 ENST00000264198 human ensembl 69_37n -1 known missense c.570 p.K190N 1.000 pfam_GIDE pfam_GIDE,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 69 0 0.00 26 23 46.94 - - - MUL1 0 genome.wustl.edu 37 1 20827674 20827674 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 20827674 20827674 T C SNP MUL1 ENST00000264198 human ensembl 69_37n -1 known missense c.568 p.K190E 1.000 pfam_GIDE pfam_GIDE,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 70 0 0.00 27 24 47.06 - - - MXRA5 0 genome.wustl.edu 37 X 3228969 3228969 + Silent SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 3228969 3228969 T C SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known silent c.7275 p.G2425 0.958 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 68 0 0.00 32 20 38.46 - - - MYBL2 0 genome.wustl.edu 37 20 42338638 42338638 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 42338638 42338638 A T SNP MYBL2 ENST00000217026 human ensembl 69_37n +1 known missense c.1541 p.N514I 1.000 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 147 0 0.00 76 10 11.63 - - - MYBL2 0 genome.wustl.edu 37 20 42338639 42338639 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 42338639 42338639 C A SNP MYBL2 ENST00000217026 human ensembl 69_37n +1 known missense c.1542 p.N514K 1.000 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 146 0 0.00 75 13 14.77 - - - MYH6 0 genome.wustl.edu 37 14 23857373 23857373 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 23857373 23857373 G C SNP MYH6 ENST00000356287 human ensembl 69_37n -1 known missense c.4350 p.N1450K 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 117 0 0.00 45 20 30.77 - - - MYO16 0 genome.wustl.edu 37 13 109617177 109617177 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 13 109617177 109617177 C A SNP MYO16 ENST00000356711 human ensembl 69_37n +1 known missense c.2230 p.L744M 0.294 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 402 0 0.00 508 106 17.26 - - - MYO5C 0 genome.wustl.edu 37 15 52497266 52497266 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 15 52497266 52497266 C T SNP MYO5C ENST00000261839 human ensembl 69_37n -1 known missense c.4616 p.S1539N 1.000 pfscan_Dilute pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 62 0 0.00 48 11 18.64 - - - MYO7A 0 genome.wustl.edu 37 11 76910582 76910582 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 76910582 76910582 A G SNP MYO7A ENST00000409709 human ensembl 69_37n +1 known missense c.4571 p.E1524G 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 30 0 0.00 9 4 30.77 - - - MYO7A 0 genome.wustl.edu 37 11 76910588 76910588 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 76910588 76910588 G A SNP MYO7A ENST00000409709 human ensembl 69_37n +1 known missense c.4577 p.R1526H 0.986 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 33 0 0.00 10 4 28.57 - - - NAGLU 0 genome.wustl.edu 37 17 40695472 40695472 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 40695472 40695472 A G SNP NAGLU ENST00000225927 human ensembl 69_37n +1 known missense c.1448 p.Y483C 1.000 pfam_NAGLU_tim-barrel pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 25 0 0.00 13 5 27.78 - - - NCALD 0 genome.wustl.edu 37 8 102701354 102701354 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 102701354 102701354 G A SNP NCALD ENST00000522951 human ensembl 69_37n -1 putative missense c.518 p.P173L 0.998 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 13 0 0.00 14 6 30.00 - - - NEK10 0 genome.wustl.edu 37 3 27233594 27233594 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 27233594 27233594 G C SNP NEK10 ENST00000383771 human ensembl 69_37n -1 known missense c.367 p.R123G 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors NEK10 HGNC ENSG00000163491 475 1 0.21 495 291 36.98 - - - NEK6 0 genome.wustl.edu 37 9 127054804 127054804 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 127054804 127054804 C T SNP NEK6 ENST00000539416 human ensembl 69_37n +1 known missense c.32 p.S11L 0.003 NULL 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 NEK6 HGNC ENSG00000119408 117 0 0.00 25 5 16.67 - - - NFE2L1 0 genome.wustl.edu 37 17 46136577 46136577 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 46136577 46136577 C T SNP NFE2L1 ENST00000362042 human ensembl 69_37n +1 known silent c.1893 p.I631 1.000 superfamily_Euk_TF_DNA-bd pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 29 0 0.00 72 1385 94.09 - - - NFE2L1 0 genome.wustl.edu 37 17 46136612 46136612 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 46136612 46136612 C T SNP NFE2L1 ENST00000362042 human ensembl 69_37n +1 known missense c.1928 p.S643F 1.000 superfamily_Euk_TF_DNA-bd pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 30 0 0.00 56 1297 95.72 - - - NFE2L1 0 genome.wustl.edu 37 17 46136893 46136893 + Nonsense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 46136893 46136893 C T SNP NFE2L1 ENST00000362042 human ensembl 69_37n +1 known nonsense c.2209 p.Q737* 0.979 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 83 0 0.00 93 1219 92.91 - - - NFE2L1 0 genome.wustl.edu 37 17 46136904 46136904 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 46136904 46136904 C T SNP NFE2L1 ENST00000362042 human ensembl 69_37n +1 known silent c.2220 p.L740 0.240 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 74 0 0.00 84 912 91.57 - - - NFKB1 0 genome.wustl.edu 37 4 103534623 103534623 + Frame_Shift_Del DEL A A - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 103534623 103534623 A - DEL NFKB1 ENST00000226574 human ensembl 69_37n +1 known frame_shift_del c.2634 p.R878fs 0.759 pfam_Death,superfamily_DEATH-like,smart_Death pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,prints_NF_Rel_dor,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD - no_errors NFKB1 HGNC ENSG00000109320 57 0 0.00 47 29 37.66 - - - NHLH1 0 genome.wustl.edu 37 1 160340790 160340790 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 160340790 160340790 C T SNP NHLH1 ENST00000302101 human ensembl 69_37n +1 known missense c.269 p.A90V 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors NHLH1 HGNC ENSG00000171786 60 0 0.00 97 31 24.22 - - - NHSL1 0 genome.wustl.edu 37 6 138751578 138751578 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 138751578 138751578 C A SNP NHSL1 ENST00000427025 human ensembl 69_37n -1 known missense c.3916 p.D1306Y 0.065 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 33 0 0.00 18 4 18.18 - - - NISCH 0 genome.wustl.edu 37 3 52492789 52492789 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 52492789 52492789 C A SNP NISCH ENST00000345716 human ensembl 69_37n +1 known missense c.289 p.Q97K 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 178 0 0.00 97 19 16.38 - - - NLRP8 0 genome.wustl.edu 37 19 56473437 56473437 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 56473437 56473437 C A SNP NLRP8 ENST00000291971 human ensembl 69_37n +1 known missense c.2047 p.P683T 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 185 0 0.00 331 52 13.58 - - - NOP14 0 genome.wustl.edu 37 4 2945884 2945885 + Frame_Shift_Ins INS - - T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 2945884 2945885 - T INS NOP14 ENST00000416614 human ensembl 69_37n -1 known frame_shift_ins c.1807_1806 p.A602fs 1.000:1.000 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 176 0 0.00 215 30 12.24 - - - NOP14 0 genome.wustl.edu 37 4 2945886 2945887 + In_Frame_Ins INS - - GGC TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 2945886 2945887 - GGC INS NOP14 ENST00000416614 human ensembl 69_37n -1 known in_frame_ins c.1805_1804 p.V602in_frame_insGL 1.000:1.000 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 178 0 0.00 199 30 13.10 - - - NOP14 0 genome.wustl.edu 37 4 2945891 2945891 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 2945891 2945891 C - DEL NOP14 ENST00000416614 human ensembl 69_37n -1 known frame_shift_del c.1800 p.E600fs 0.977 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 179 0 0.00 194 30 13.39 - - - NOS1 0 genome.wustl.edu 37 12 117681129 117681129 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 117681129 117681129 C G SNP NOS1 ENST00000317775 human ensembl 69_37n -1 known missense c.2935 p.V979L 1.000 superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 398 0 0.00 1058 392 27.02 - - - NPFFR2 0 genome.wustl.edu 37 4 73012701 73012701 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 73012701 73012701 G C SNP NPFFR2 ENST00000308744 human ensembl 69_37n +1 known missense c.741 p.Q247H 0.573 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 212 0 0.00 225 50 18.18 - - - NRG1 0 genome.wustl.edu 37 8 32621347 32621347 + Silent SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 32621347 32621347 G T SNP NRG1 ENST00000338921 human ensembl 69_37n +1 known silent c.1374 p.S458 0.985 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EGF-like,pfscan_EG-like_dom,pfscan_Ig-like,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 112 0 0.00 109 23 17.42 - - - NRP1 0 genome.wustl.edu 37 10 33475378 33475378 + Nonsense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 33475378 33475378 G A SNP NRP1 ENST00000265371 human ensembl 69_37n -1 known nonsense c.2101 p.Q701* 1.000 pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 128 0 0.00 79 82 50.62 - - - NTRK1 0 genome.wustl.edu 37 1 156843468 156843468 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 156843468 156843468 C G SNP NTRK1 ENST00000524377 human ensembl 69_37n +1 known missense c.894 p.H298Q 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 17 0 0.00 49 36 42.35 - - - ODZ4 0 genome.wustl.edu 37 11 78380642 78380642 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 78380642 78380642 C A SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known missense c.6748 p.D2250Y 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ4 HGNC ENSG00000149256 225 0 0.00 68 98 59.04 - - - OPN4 0 genome.wustl.edu 37 10 88422113 88422113 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 88422113 88422113 T C SNP OPN4 ENST00000372071 human ensembl 69_37n +1 known missense c.1211 p.L404P 0.227 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Opsin - no_errors OPN4 HGNC ENSG00000122375 28 0 0.00 10 6 37.50 - - - OR13C9 0 genome.wustl.edu 37 9 107380041 107380041 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 107380041 107380041 A T SNP OR13C9 ENST00000259362 human ensembl 69_37n -1 known missense c.445 p.W149R 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 236 0 0.00 176 93 34.57 - - - OR2B3 0 genome.wustl.edu 37 6 29055004 29055004 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 29055004 29055004 A G SNP OR2B3 ENST00000377173 human ensembl 69_37n -1 known missense c.22 p.S8P 0.008 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2B3 HGNC ENSG00000204703 135 0 0.00 63 71 52.99 - - - OR2T12 0 genome.wustl.edu 37 1 248458059 248458059 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 248458059 248458059 G A SNP OR2T12 ENST00000317996 human ensembl 69_37n -1 known silent c.822 p.A274 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 362 0 0.00 361 70 16.24 - - - OR4C13 0 genome.wustl.edu 37 11 49974137 49974137 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 49974137 49974137 T A SNP OR4C13 ENST00000555099 human ensembl 69_37n +1 known missense c.163 p.S55T 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4C13 HGNC ENSG00000258817 388 0 0.00 1069 211 16.45 - - - OR52K2 0 genome.wustl.edu 37 11 4471322 4471322 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 4471322 4471322 A T SNP OR52K2 ENST00000325719 human ensembl 69_37n +1 known missense c.753 p.L251F 0.072 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 478 0 0.00 723 346 32.34 - - - OR56A1 0 genome.wustl.edu 37 11 6048683 6048683 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 6048683 6048683 G A SNP OR56A1 ENST00000316650 human ensembl 69_37n -1 known silent c.252 p.V84 0.731 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_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 317 1 0.31 497 123 19.84 - - - OR5H15 0 genome.wustl.edu 37 3 97887998 97887998 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 97887998 97887998 G T SNP OR5H15 ENST00000356526 human ensembl 69_37n +1 known missense c.455 p.G152V 0.974 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 158 0 0.00 73 75 50.68 - - - OR5T1 0 genome.wustl.edu 37 11 56043743 56043743 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 56043743 56043743 T C SNP OR5T1 ENST00000313033 human ensembl 69_37n +1 known missense c.629 p.L210P 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 516 0 0.00 585 187 24.19 - - - OVGP1 0 genome.wustl.edu 37 1 111963924 111963924 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 111963924 111963924 G C SNP OVGP1 ENST00000369732 human ensembl 69_37n -1 known missense c.877 p.Q293E 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 191 0 0.00 45 141 75.81 - - - OXSM 0 genome.wustl.edu 37 3 25832724 25832725 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 25832724 25832725 - G INS OXSM ENST00000280701 human ensembl 69_37n +1 known frame_shift_ins c.213_214 p.I72fs 1.000:1.000 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 243 0 0.00 202 35 14.77 - - - PAK6 0 genome.wustl.edu 37 15 40564516 40564516 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 15 40564516 40564516 C T SNP PAK6 ENST00000260404 human ensembl 69_37n +1 known missense c.950 p.T317I 0.969 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK6 HGNC ENSG00000137843 123 0 0.00 27 24 47.06 - - - PAK6 0 genome.wustl.edu 37 15 40564521 40564521 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 15 40564521 40564521 A T SNP PAK6 ENST00000260404 human ensembl 69_37n +1 known missense c.955 p.S319C 0.991 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK6 HGNC ENSG00000137843 124 0 0.00 25 21 45.65 - - - PAQR5 0 genome.wustl.edu 37 15 69652466 69652466 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 15 69652466 69652466 C G SNP PAQR5 ENST00000340965 human ensembl 69_37n +1 known missense c.47 p.P16R 1.000 NULL pfam_HlyIII-related - no_errors PAQR5 HGNC ENSG00000137819 164 0 0.00 74 56 43.08 - - - PC 0 genome.wustl.edu 37 11 66638846 66638846 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 66638846 66638846 G T SNP PC ENST00000393958 human ensembl 69_37n -1 known missense c.427 p.P143T 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 64 0 0.00 18 3 14.29 - - - PCDHGA11 0 genome.wustl.edu 37 5 140802703 140802703 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 140802703 140802703 G A SNP PCDHGA11 ENST00000398587 human ensembl 69_37n +1 known missense c.1909 p.D637N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 35 0 0.00 12 94 88.68 - - - PCDHGA11 0 genome.wustl.edu 37 5 140802704 140802704 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 140802704 140802704 A T SNP PCDHGA11 ENST00000398587 human ensembl 69_37n +1 known missense c.1910 p.D637V 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 36 0 0.00 10 92 89.32 - - - PCDHGA4 0 genome.wustl.edu 37 5 140736102 140736102 + Silent SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 140736102 140736102 C A SNP PCDHGA4 ENST00000571252 human ensembl 69_37n +1 known silent c.1335 p.I445 0.904 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 183 0 0.00 104 38 26.76 - - - PCDHGB1 0 genome.wustl.edu 37 5 140731702 140731702 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 140731702 140731702 G A SNP PCDHGB1 ENST00000523390 human ensembl 69_37n +1 known silent c.1875 p.A625 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 24 0 0.00 2 18 90.00 - - - PCMT1 0 genome.wustl.edu 37 6 150092324 150092324 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 150092324 150092324 G C SNP PCMT1 ENST00000367384 human ensembl 69_37n +1 known missense c.256 p.V86L 1.000 pfam_PCMT,tigrfam_PCMT pfam_PCMT,tigrfam_PCMT - no_errors PCMT1 HGNC ENSG00000120265 85 0 0.00 65 34 34.34 - - - PDIA4 0 genome.wustl.edu 37 7 148701190 148701190 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 148701190 148701190 T C SNP PDIA4 ENST00000286091 human ensembl 69_37n -1 known missense c.1634 p.D545G 1.000 pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 100 0 0.00 50 22 30.56 - - - PDZD4 0 genome.wustl.edu 37 X 153070189 153070189 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 153070189 153070189 C T SNP PDZD4 ENST00000164640 human ensembl 69_37n -1 known missense c.929 p.G310E 0.982 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 44 0 0.00 2 8 80.00 - - - PDZD4 0 genome.wustl.edu 37 X 153070190 153070190 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 153070190 153070190 C T SNP PDZD4 ENST00000164640 human ensembl 69_37n -1 known missense c.928 p.G310R 0.980 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 43 0 0.00 2 8 80.00 - - - PDZD4 0 genome.wustl.edu 37 X 153070191 153070191 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 153070191 153070191 C T SNP PDZD4 ENST00000164640 human ensembl 69_37n -1 known silent c.927 p.P309 0.393 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 44 0 0.00 2 8 80.00 - - - PDZD4 0 genome.wustl.edu 37 X 153070217 153070217 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 153070217 153070217 C T SNP PDZD4 ENST00000164640 human ensembl 69_37n -1 known missense c.901 p.E301K 0.887 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 37 0 0.00 0 13 100.00 - - - PHF15 0 genome.wustl.edu 37 5 133902065 133902066 + In_Frame_Ins INS - - CGA TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 133902065 133902066 - CGA INS PHF15 ENST00000448712 human ensembl 69_37n +1 known in_frame_ins c.1277_1278 p.427in_frame_insE 0.998:0.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 27 0 0.00 28 13 31.71 - - - PHF15 0 genome.wustl.edu 37 5 133902069 133902070 + Frame_Shift_Del DEL TG TG - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 133902069 133902070 TG - DEL PHF15 ENST00000448712 human ensembl 69_37n +1 known frame_shift_del c.1281_1282 p.E428fs 0.000:1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 28 0 0.00 20 13 39.39 - - - PHF3 0 genome.wustl.edu 37 6 64422056 64422056 + Missense_Mutation SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 64422056 64422056 A C SNP PHF3 ENST00000262043 human ensembl 69_37n +1 known missense c.4572 p.K1524N 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 98 0 0.00 119 74 38.34 - - - PHLPP1 0 genome.wustl.edu 37 18 60646636 60646636 + Frame_Shift_Del DEL T T - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 18 60646636 60646636 T - DEL PHLPP1 ENST00000262719 human ensembl 69_37n +1 known frame_shift_del c.5126 p.L1709fs 1.000 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 19 0 0.00 12 8 40.00 - - - PIK3R6 0 genome.wustl.edu 37 17 8741904 8741904 + RNA SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 8741904 8741904 T A SNP PIK3R6 ENST00000311434 human ensembl 69_37n -1 known rna NULL NULL 0.981 - - - no_errors PIK3R6 HGNC ENSG00000174083 107 0 0.00 97 60 37.97 - - - PJA1 0 genome.wustl.edu 37 X 68381070 68381070 + Silent SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 68381070 68381070 T C SNP PJA1 ENST00000471141 human ensembl 69_37n -1 putative silent c.168 p.*56 0.014 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PJA1 HGNC ENSG00000181191 43 0 0.00 7 92 92.93 - - - PJA1 0 genome.wustl.edu 37 X 68381071 68381071 + Silent SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 68381071 68381071 T C SNP PJA1 ENST00000471141 human ensembl 69_37n -1 putative silent c.167 p.*56 0.029 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PJA1 HGNC ENSG00000181191 44 0 0.00 7 96 93.20 - - - PKHD1L1 0 genome.wustl.edu 37 8 110520355 110520355 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 110520355 110520355 C T SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.11257 p.L3753F 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 318 0 0.00 500 176 26.04 - - - PKNOX1 0 genome.wustl.edu 37 21 44438269 44438269 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 21 44438269 44438269 G A SNP PKNOX1 ENST00000291547 human ensembl 69_37n +1 known missense c.649 p.V217I 0.997 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX1 HGNC ENSG00000160199 174 0 0.00 138 32 18.60 - - - PLA2G15 0 genome.wustl.edu 37 16 68293388 68293388 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 68293388 68293388 T G SNP PLA2G15 ENST00000219345 human ensembl 69_37n +1 known missense c.1067 p.F356C 0.999 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 53 0 0.00 22 14 38.89 - - - PLCB1 0 genome.wustl.edu 37 20 8719944 8719944 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 8719944 8719944 G A SNP PLCB1 ENST00000338037 human ensembl 69_37n +1 known missense c.2245 p.V749I 1.000 pirsf_PLC-beta,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 289 0 0.00 101 50 32.68 - - - PLCD3 0 genome.wustl.edu 37 17 43190567 43190567 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 43190567 43190567 T A SNP PLCD3 ENST00000322765 human ensembl 69_37n -1 known missense c.2051 p.D684V 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCD3 HGNC ENSG00000161714 55 0 0.00 24 11 31.43 - - - PLEKHB1 0 genome.wustl.edu 37 11 73357670 73357670 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 73357670 73357670 C G SNP PLEKHB1 ENST00000354190 human ensembl 69_37n +1 known missense c.17 p.P6R 0.997 NULL smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB1 HGNC ENSG00000021300 65 0 0.00 39 9 18.75 - - - PLEKHH2 0 genome.wustl.edu 37 2 43992708 43992708 + Nonsense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 43992708 43992708 A T SNP PLEKHH2 ENST00000282406 human ensembl 69_37n +1 known nonsense c.4453 p.R1485* 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 100 0 0.00 36 9 19.15 - - - PLP1 0 genome.wustl.edu 37 X 103041099 103041100 + Splice_Site INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 103041099 103041100 - C INS PLP1 ENST00000461231 human ensembl 69_37n +1 known splice_site_ins c.NULL NULL 0.039:0.011 - - - no_errors PLP1 HGNC ENSG00000123560 8 0 0.00 3 10 76.92 - - - PNPLA7 0 genome.wustl.edu 37 9 140356142 140356142 + RNA DEL G G - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 140356142 140356142 G - DEL PNPLA7 ENST00000492278 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PNPLA7 HGNC ENSG00000130653 49 0 0.00 8 16 66.67 - - - PODN 0 genome.wustl.edu 37 1 53542877 53542877 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 53542877 53542877 C G SNP PODN ENST00000312553 human ensembl 69_37n +1 known missense c.741 p.H247Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 29 0 0.00 13 14 51.85 - - - POLA1 0 genome.wustl.edu 37 X 25014005 25014005 + Nonsense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 25014005 25014005 C T SNP POLA1 ENST00000379068 human ensembl 69_37n +1 known nonsense c.4345 p.R1449* 0.009 pfam_Znf_DNA-dir_DNA_pol_B_alpha pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 214 0 0.00 188 101 34.71 - - - POLR3GL 0 genome.wustl.edu 37 1 145457935 145457935 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 145457935 145457935 C G SNP POLR3GL ENST00000369314 human ensembl 69_37n -1 known missense c.325 p.D109H 1.000 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3GL HGNC ENSG00000121851 152 0 0.00 279 156 35.86 - - - PPFIA1 0 genome.wustl.edu 37 11 70221193 70221193 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 70221193 70221193 C G SNP PPFIA1 ENST00000253925 human ensembl 69_37n +1 known missense c.3309 p.N1103K 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 96 0 0.00 58 127 68.65 - - - PPP2R4 0 genome.wustl.edu 37 9 131890307 131890307 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 131890307 131890307 G C SNP PPP2R4 ENST00000452489 human ensembl 69_37n +1 known missense c.281 p.C94S 0.000 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 201 0 0.00 100 15 13.04 - - - PPP2R5D 0 genome.wustl.edu 37 6 42977150 42977150 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 42977150 42977150 C A SNP PPP2R5D ENST00000485511 human ensembl 69_37n +1 known missense c.1342 p.P448T 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5D HGNC ENSG00000112640 84 0 0.00 35 14 28.57 - - - PRDM15 0 genome.wustl.edu 37 21 43274714 43274714 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 21 43274714 43274714 C G SNP PRDM15 ENST00000269844 human ensembl 69_37n -1 known missense c.1597 p.D533H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 25 0 0.00 11 5 31.25 - - - PREX2 0 genome.wustl.edu 37 8 69002895 69002895 + Missense_Mutation SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 69002895 69002895 A C SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.2195 p.H732P 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 156 0 0.00 103 12 10.43 - - - PRKCG 0 genome.wustl.edu 37 19 54401697 54401697 + Missense_Mutation SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 54401697 54401697 A C SNP PRKCG ENST00000540413 human ensembl 69_37n +1 known missense c.1096 p.M366L 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCG HGNC ENSG00000126583 28 0 0.00 31 5 13.51 - - - PRRC2C 0 genome.wustl.edu 37 1 171549011 171549011 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 171549011 171549011 G T SNP PRRC2C ENST00000495585 human ensembl 69_37n +1 novel missense c.2759 p.C920F 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRRC2C HGNC ENSG00000117523 226 0 0.00 199 58 22.39 - - - PRUNE 0 genome.wustl.edu 37 1 150999788 150999788 + Silent SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 150999788 150999788 A C SNP PRUNE ENST00000271620 human ensembl 69_37n +1 known silent c.759 p.I253 0.941 pfam_DHHA2 pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC ENSG00000143363 440 1 0.23 1259 724 36.51 - - - PSMA6 0 genome.wustl.edu 37 14 35778201 35778201 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 35778201 35778201 G T SNP PSMA6 ENST00000261479 human ensembl 69_37n +1 known missense c.253 p.A85S 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 184 0 0.00 184 46 20.00 - - - PTDSS1 0 genome.wustl.edu 37 8 97285557 97285557 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 97285557 97285557 G T SNP PTDSS1 ENST00000517309 human ensembl 69_37n +1 known missense c.210 p.W70C 1.000 NULL pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 519 1 0.19 883 207 18.99 - - - PTPDC1 0 genome.wustl.edu 37 9 96860178 96860178 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 96860178 96860178 C - DEL PTPDC1 ENST00000375360 human ensembl 69_37n +1 known frame_shift_del c.1168 p.R390fs 0.355 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTPDC1 HGNC ENSG00000158079 107 0 0.00 72 39 35.14 - - - PURB 0 genome.wustl.edu 37 7 44924216 44924216 + Missense_Mutation SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 44924216 44924216 A C SNP PURB ENST00000395699 human ensembl 69_37n -1 known missense c.732 p.F244L 1.000 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURB HGNC ENSG00000146676 96 0 0.00 42 9 17.65 - - - PXDN 0 genome.wustl.edu 37 2 1639257 1639257 + Missense_Mutation SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 1639257 1639257 A C SNP PXDN ENST00000252804 human ensembl 69_37n -1 known missense c.4243 p.C1415G 1.000 smart_VWF_C,pfscan_VWF_C pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 114 0 0.00 26 14 35.00 - - - PYGM 0 genome.wustl.edu 37 11 64518794 64518794 + RNA SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 64518794 64518794 C T SNP PYGM ENST00000462303 human ensembl 69_37n -1 putative rna NULL NULL 0.804 - - - no_errors PYGM HGNC ENSG00000068976 108 0 0.00 28 23 43.40 - - - QARS 0 genome.wustl.edu 37 3 49135513 49135513 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 49135513 49135513 C T SNP QARS ENST00000306125 human ensembl 69_37n -1 known missense c.2189 p.C730Y 0.868 pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth_Ib pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib - no_errors QARS HGNC ENSG00000172053 168 0 0.00 116 27 18.75 - - - QRICH1 0 genome.wustl.edu 37 3 49067887 49067887 + Nonstop_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 49067887 49067887 A G SNP QRICH1 ENST00000357496 human ensembl 69_37n -1 known nonstop c.2329 p.*777R 1.000 NULL pfam_DUF3504,superfamily_DEATH-like - no_errors QRICH1 HGNC ENSG00000198218 107 0 0.00 47 11 18.64 - - - RAB11FIP5 0 genome.wustl.edu 37 2 73303234 73303235 + Frame_Shift_Ins INS - - A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 73303234 73303235 - A INS RAB11FIP5 ENST00000258098 human ensembl 69_37n -1 known frame_shift_ins c.1645_1644 p.S548fs 1.000:1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP5 HGNC ENSG00000135631 68 0 0.00 119 18 13.14 - - - RGS2 0 genome.wustl.edu 37 1 192778171 192778171 + RNA SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 192778171 192778171 A G SNP RGS2 ENST00000483295 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RGS2 HGNC ENSG00000116741 63 0 0.00 66 263 79.70 - - - RHCE 0 genome.wustl.edu 37 1 25747153 25747153 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 25747153 25747153 T A SNP RHCE ENST00000294413 human ensembl 69_37n -1 known missense c.125 p.K42M 0.000 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 285 0 0.00 147 89 37.55 - - - RHD 0 genome.wustl.edu 37 1 25599163 25599163 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 25599163 25599163 A T SNP RHD ENST00000328664 human ensembl 69_37n +1 known missense c.125 p.K42M 0.001 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 186 0 0.00 78 20 20.41 - - - RIPK3 0 genome.wustl.edu 37 14 24806313 24806313 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 24806313 24806313 A T SNP RIPK3 ENST00000216274 human ensembl 69_37n -1 known missense c.1254 p.S418R 0.013 NULL 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 RIPK3 HGNC ENSG00000129465 379 0 0.00 293 50 14.53 - - - RNF213 0 genome.wustl.edu 37 17 78318965 78318965 + Frame_Shift_Del DEL A A - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 78318965 78318965 A - DEL RNF213 ENST00000582970 human ensembl 69_37n +1 known frame_shift_del c.6830 p.H2277fs 0.001 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 172 0 0.00 102 13 11.21 - - - RNF213 0 genome.wustl.edu 37 17 78318967 78318967 + Missense_Mutation SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 78318967 78318967 A C SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.6832 p.M2278L 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 172 0 0.00 105 14 11.76 - - - ROGDI 0 genome.wustl.edu 37 16 4848160 4848160 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 4848160 4848160 G T SNP ROGDI ENST00000322048 human ensembl 69_37n -1 known missense c.557 p.S186Y 0.044 NULL NULL - no_errors ROGDI HGNC ENSG00000067836 67 0 0.00 14 16 53.33 - - - RPRD2 0 genome.wustl.edu 37 1 150443698 150443698 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 150443698 150443698 C T SNP RPRD2 ENST00000369068 human ensembl 69_37n +1 known silent c.2274 p.S758 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC ENSG00000163125 128 0 0.00 272 64 19.05 - - - RTP2 0 genome.wustl.edu 37 3 187419769 187419769 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 187419769 187419769 G C SNP RTP2 ENST00000358241 human ensembl 69_37n -1 known missense c.148 p.Q50E 1.000 NULL NULL - no_errors RTP2 HGNC ENSG00000198471 88 0 0.00 48 60 55.56 - - - RYR1 0 genome.wustl.edu 37 19 38985160 38985160 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 38985160 38985160 C - DEL RYR1 ENST00000359596 human ensembl 69_37n +1 known frame_shift_del c.6443 p.V2149fs 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 31 0 0.00 71 32 31.07 - - - RYR3 0 genome.wustl.edu 37 15 33990151 33990151 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 15 33990151 33990151 C T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.6203 p.T2068M 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 501 0 0.00 118 354 75.00 - - - SAMM50 0 genome.wustl.edu 37 22 44379821 44379821 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 44379821 44379821 T A SNP SAMM50 ENST00000350028 human ensembl 69_37n +1 known missense c.1016 p.L339H 0.997 pfam_Bac_surfAg_D15 pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 211 0 0.00 186 25 11.68 - - - SDK1 0 genome.wustl.edu 37 7 4116674 4116674 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 4116674 4116674 C G SNP SDK1 ENST00000404826 human ensembl 69_37n +1 known missense c.3055 p.L1019V 0.007 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC ENSG00000146555 171 0 0.00 104 41 28.28 - - - SEPT9 0 genome.wustl.edu 37 17 75483509 75483509 + Splice_Site SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 75483509 75483509 A T SNP SEPT9 ENST00000590917 human ensembl 69_37n +1 putative splice_site c.161-2 e2-2 1.000 - - - no_errors SEPT9 HGNC ENSG00000184640 92 0 0.00 36 8 18.18 - - - SEPT9 0 genome.wustl.edu 37 17 75483511 75483511 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 75483511 75483511 A G SNP SEPT9 ENST00000427177 human ensembl 69_37n +1 known missense c.919 p.S307G 1.000 pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1 pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1 - no_errors SEPT9 HGNC ENSG00000184640 91 0 0.00 37 7 15.91 - - - SEPT9 0 genome.wustl.edu 37 17 75483513 75483513 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 75483513 75483513 C G SNP SEPT9 ENST00000427177 human ensembl 69_37n +1 known missense c.921 p.S307R 0.552 pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1 pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1 - no_errors SEPT9 HGNC ENSG00000184640 92 0 0.00 37 7 15.91 - - - SETD1B 0 genome.wustl.edu 37 12 122242657 122242658 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 122242657 122242658 - C INS SETD1B ENST00000267197 human ensembl 69_37n +1 known frame_shift_ins c.14_15 p.H8fs 1.000:1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 50 0 0.00 26 3 10.34 - - - SGCG 0 genome.wustl.edu 37 13 23898666 23898666 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 13 23898666 23898666 C T SNP SGCG ENST00000218867 human ensembl 69_37n +1 known missense c.862 p.H288Y 0.239 NULL pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 64 0 0.00 34 7 17.07 - - - SH2D3C 0 genome.wustl.edu 37 9 130509542 130509542 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 130509542 130509542 A G SNP SH2D3C ENST00000314830 human ensembl 69_37n -1 known missense c.1148 p.L383P 0.883 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 48 0 0.00 28 63 69.23 - - - SH3KBP1 0 genome.wustl.edu 37 X 19606866 19606866 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 19606866 19606866 A G SNP SH3KBP1 ENST00000397821 human ensembl 69_37n -1 known missense c.1193 p.I398T 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 505 0 0.00 387 814 67.27 - - - SKA3 0 genome.wustl.edu 37 13 21729839 21729839 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 13 21729839 21729839 C G SNP SKA3 ENST00000314759 human ensembl 69_37n -1 known missense c.1231 p.E411Q 1.000 NULL NULL - no_errors SKA3 HGNC ENSG00000165480 458 0 0.00 148 61 29.05 - - - SLAMF9 0 genome.wustl.edu 37 1 159923329 159923329 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 159923329 159923329 A G SNP SLAMF9 ENST00000368093 human ensembl 69_37n -1 known missense c.161 p.I54T 0.397 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like - no_errors SLAMF9 HGNC ENSG00000162723 304 0 0.00 597 105 14.87 - - - SLC10A3 0 genome.wustl.edu 37 X 153716489 153716489 + Frame_Shift_Del DEL G G - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 153716489 153716489 G - DEL SLC10A3 ENST00000263512 human ensembl 69_37n -1 known frame_shift_del c.791 p.S264fs 0.272 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 69 0 0.00 3 11 68.75 - - - SLC10A3 0 genome.wustl.edu 37 X 153716700 153716700 + Frame_Shift_Del DEL A A - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 153716700 153716700 A - DEL SLC10A3 ENST00000263512 human ensembl 69_37n -1 known frame_shift_del c.580 p.Y194fs 1.000 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 53 0 0.00 5 17 77.27 - - - SLC10A3 0 genome.wustl.edu 37 X 153716703 153716703 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 153716703 153716703 G T SNP SLC10A3 ENST00000263512 human ensembl 69_37n -1 known missense c.577 p.L193I 0.992 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 54 0 0.00 5 19 79.17 - - - SLC13A1 0 genome.wustl.edu 37 7 122769492 122769492 + Nonsense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 122769492 122769492 G A SNP SLC13A1 ENST00000194130 human ensembl 69_37n -1 known nonsense c.976 p.Q326* 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 540 0 0.00 656 326 33.16 - - - SLC16A12 0 genome.wustl.edu 37 10 91195821 91195821 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 91195821 91195821 G A SNP SLC16A12 ENST00000371790 human ensembl 69_37n -1 known silent c.1284 p.I428 0.816 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 230 0 0.00 31 88 73.95 - - - SLC22A15 0 genome.wustl.edu 37 1 116574176 116574176 + Silent SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 116574176 116574176 A T SNP SLC22A15 ENST00000369503 human ensembl 69_37n +1 known silent c.918 p.G306 0.957 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A15 HGNC ENSG00000163393 185 0 0.00 120 74 37.95 - - - SLC25A41 0 genome.wustl.edu 37 19 6430130 6430131 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 6430130 6430131 - C INS SLC25A41 ENST00000321510 human ensembl 69_37n -1 known frame_shift_ins c.406_405 p.L135fs 0.009:0.003 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 62 0 0.00 37 6 13.95 - - - SLC25A41 0 genome.wustl.edu 37 19 6433604 6433605 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 6433604 6433605 - G INS SLC25A41 ENST00000321510 human ensembl 69_37n -1 known frame_shift_ins c.101_100 p.Q34fs 0.001:0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 55 0 0.00 23 3 11.54 - - - SLC35A2 0 genome.wustl.edu 37 X 48767129 48767129 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 48767129 48767129 C - DEL SLC35A2 ENST00000452555 human ensembl 69_37n -1 known frame_shift_del c.320 p.G107fs 0.997 pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A2 HGNC ENSG00000102100 108 0 0.00 84 17 16.67 - - - SLC3A2 0 genome.wustl.edu 37 11 62656079 62656079 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 62656079 62656079 C G SNP SLC3A2 ENST00000377892 human ensembl 69_37n +1 known missense c.1900 p.R634G 0.823 NULL pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 36 0 0.00 34 47 58.02 - - - SLC45A2 0 genome.wustl.edu 37 5 33954536 33954536 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 33954536 33954536 C G SNP SLC45A2 ENST00000296589 human ensembl 69_37n -1 known missense c.962 p.C321S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 208 0 0.00 55 69 55.65 - - - SMC1A 0 genome.wustl.edu 37 X 53432450 53432451 + Frame_Shift_Ins INS - - T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 X 53432450 53432451 - T INS SMC1A ENST00000322213 human ensembl 69_37n -1 known frame_shift_ins c.1886_1885 p.A629fs 1.000:1.000 pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 85 0 0.00 63 7 10.00 - - - SMOC1 0 genome.wustl.edu 37 14 70477539 70477539 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 70477539 70477539 G A SNP SMOC1 ENST00000361956 human ensembl 69_37n +1 known missense c.733 p.G245S 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 86 0 0.00 44 8 15.38 - - - SMOC1 0 genome.wustl.edu 37 14 70477540 70477540 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 70477540 70477540 G T SNP SMOC1 ENST00000361956 human ensembl 69_37n +1 known missense c.734 p.G245V 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 84 0 0.00 42 10 19.23 - - - SNX20 0 genome.wustl.edu 37 16 50707855 50707855 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 50707855 50707855 A G SNP SNX20 ENST00000330943 human ensembl 69_37n -1 known missense c.413 p.V138A 0.462 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 48 0 0.00 14 4 22.22 - - - SOGA1 0 genome.wustl.edu 37 20 35445813 35445813 + Silent SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 35445813 35445813 C A SNP SOGA1 ENST00000357779 human ensembl 69_37n -1 known silent c.417 p.V139 0.014 NULL pfam_DUF3166 - no_errors SOGA1 HGNC ENSG00000149639 124 1 0.80 91 31 25.41 - - - SORBS3 0 genome.wustl.edu 37 8 22414410 22414411 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 22414410 22414411 - C INS SORBS3 ENST00000240123 human ensembl 69_37n +1 known frame_shift_ins c.403_404 p.R137fs 1.000:1.000 pfam_Sorb,smart_Sorb,pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 57 0 0.00 6 2 25.00 - - - SPEN 0 genome.wustl.edu 37 1 16247478 16247478 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 16247478 16247478 G T SNP SPEN ENST00000375759 human ensembl 69_37n +1 known missense c.1749 p.K583N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 280 0 0.00 137 73 34.76 - - - SPTBN2 0 genome.wustl.edu 37 11 66455691 66455691 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 66455691 66455691 G T SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known missense c.6323 p.P2108H 0.695 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 120 0 0.00 28 35 55.56 - - - SREBF2 0 genome.wustl.edu 37 22 42273963 42273963 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 22 42273963 42273963 G C SNP SREBF2 ENST00000361204 human ensembl 69_37n +1 known missense c.1597 p.D533H 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SREBF2 HGNC ENSG00000198911 277 0 0.00 112 127 53.14 - - - STK31 0 genome.wustl.edu 37 7 23751906 23751906 + Splice_Site SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 23751906 23751906 G T SNP STK31 ENST00000355870 human ensembl 69_37n +1 known splice_site c.150+1 e3+1 1.000 - - - no_errors STK31 HGNC ENSG00000196335 497 0 0.00 96 269 73.30 - - - STRADA 0 genome.wustl.edu 37 17 61787935 61787935 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 61787935 61787935 C T SNP STRADA ENST00000336174 human ensembl 69_37n -1 known missense c.497 p.G166D 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADA HGNC ENSG00000266173 191 0 0.00 91 26 22.03 - - - STRN4 0 genome.wustl.edu 37 19 47231375 47231375 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 47231375 47231375 G A SNP STRN4 ENST00000435164 human ensembl 69_37n -1 known missense c.691 p.L231F 0.028 NULL pfam_Striatin_N - no_errors STRN4 HGNC ENSG00000090372 28 0 0.00 19 8 29.63 - - - SYNE2 0 genome.wustl.edu 37 14 64600895 64600895 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 14 64600895 64600895 G C SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.14623 p.V4875L 0.031 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 372 0 0.00 102 262 71.98 - - - SYNJ2 0 genome.wustl.edu 37 6 158505094 158505094 + Silent SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 158505094 158505094 G C SNP SYNJ2 ENST00000355585 human ensembl 69_37n +1 known silent c.3096 p.S1032 0.432 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 137 0 0.00 89 16 15.24 - - - SYTL2 0 genome.wustl.edu 37 11 85445156 85445156 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 85445156 85445156 C T SNP SYTL2 ENST00000316356 human ensembl 69_37n -1 known missense c.1216 p.E406K 0.058 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL2 HGNC ENSG00000137501 398 2 0.50 590 69 10.47 - - - TBC1D10B 0 genome.wustl.edu 37 16 30380863 30380863 + Silent SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 30380863 30380863 T G SNP TBC1D10B ENST00000409939 human ensembl 69_37n -1 known silent c.642 p.S214 0.001 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 20 0 0.00 16 552 97.01 - - - TCEA3 0 genome.wustl.edu 37 1 23713860 23713860 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 23713860 23713860 G A SNP TCEA3 ENST00000450454 human ensembl 69_37n -1 known missense c.872 p.A291V 1.000 pfam_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA3 HGNC ENSG00000204219 173 0 0.00 126 17 11.81 - - - TCF4 0 genome.wustl.edu 37 18 52921803 52921803 + Silent SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 18 52921803 52921803 A G SNP TCF4 ENST00000398339 human ensembl 69_37n -1 known silent c.1581 p.S527 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF4 HGNC ENSG00000196628 169 0 0.00 83 10 10.75 - - - TCTN2 0 genome.wustl.edu 37 12 124189164 124189164 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 12 124189164 124189164 C T SNP TCTN2 ENST00000303372 human ensembl 69_37n +1 known silent c.1698 p.I566 0.999 NULL pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 79 0 0.00 70 40 36.36 - - - TET1 0 genome.wustl.edu 37 10 70333955 70333955 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 70333955 70333955 G A SNP TET1 ENST00000373644 human ensembl 69_37n +1 known silent c.1860 p.K620 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 92 0 0.00 58 12 17.14 - - - TGM2 0 genome.wustl.edu 37 20 36779424 36779424 + Nonsense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 36779424 36779424 G A SNP TGM2 ENST00000361475 human ensembl 69_37n -1 known nonsense c.469 p.Q157* 0.007 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 134 0 0.00 65 9 12.16 - - - THBS4 0 genome.wustl.edu 37 5 79354065 79354065 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 79354065 79354065 T A SNP THBS4 ENST00000350881 human ensembl 69_37n +1 known missense c.577 p.S193T 0.999 superfamily_ConA-like_lec_gl pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 89 0 0.00 44 8 15.38 - - - THNSL1 0 genome.wustl.edu 37 10 25314045 25314045 + Silent SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 25314045 25314045 C G SNP THNSL1 ENST00000376356 human ensembl 69_37n +1 known silent c.1893 p.T631 1.000 pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase pfam_Shikimate_kinase,pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,prints_Shikimate_kinase,tigrfam_Thr_synthase - no_errors THNSL1 HGNC ENSG00000185875 128 0 0.00 253 30 10.60 - - - TIFA 0 genome.wustl.edu 37 4 113199484 113199484 + Missense_Mutation SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 113199484 113199484 A C SNP TIFA ENST00000361717 human ensembl 69_37n -1 known missense c.89 p.I30R 0.157 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,pfscan_FHA_dom - no_errors TIFA HGNC ENSG00000145365 62 0 0.00 20 12 37.50 - - - TIFA 0 genome.wustl.edu 37 4 113199487 113199487 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 113199487 113199487 C G SNP TIFA ENST00000361717 human ensembl 69_37n -1 known missense c.86 p.G29A 0.001 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,pfscan_FHA_dom - no_errors TIFA HGNC ENSG00000145365 61 0 0.00 20 11 35.48 - - - TIRAP 0 genome.wustl.edu 37 11 126161294 126161294 + RNA SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 126161294 126161294 A G SNP TIRAP ENST00000462401 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TIRAP HGNC ENSG00000150455 17 0 0.00 10 11 52.38 - - - TMED6 0 genome.wustl.edu 37 16 69381693 69381693 + Nonsense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 69381693 69381693 C A SNP TMED6 ENST00000288025 human ensembl 69_37n -1 known nonsense c.487 p.E163* 0.993 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED6 HGNC ENSG00000157315 459 0 0.00 108 394 78.49 - - - TMEM143 0 genome.wustl.edu 37 19 48836625 48836626 + Frame_Shift_Ins INS - - AC TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 48836625 48836626 - AC INS TMEM143 ENST00000293261 human ensembl 69_37n -1 known frame_shift_ins c.1231_1230 p.T410fs 0.491:0.561 NULL pfam_DUF3754 - no_errors TMEM143 HGNC ENSG00000161558 46 0 0.00 63 26 29.21 - - - TMEM223 0 genome.wustl.edu 37 11 62559273 62559274 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 62559273 62559274 - C INS TMEM223 ENST00000307366 human ensembl 69_37n -1 known frame_shift_ins c.194_193 p.A65fs 0.004:0.005 NULL NULL - no_errors TMEM223 HGNC ENSG00000168569 21 0 0.00 19 44 69.84 - - - TMEM223 0 genome.wustl.edu 37 11 62559276 62559276 + Nonsense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 62559276 62559276 A T SNP TMEM223 ENST00000528367 human ensembl 69_37n -1 putative nonsense c.189 p.C63* 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMEM223 HGNC ENSG00000168569 17 0 0.00 21 46 66.67 - - - TMEM41B 0 genome.wustl.edu 37 11 9316935 9316935 + Splice_Site SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 11 9316935 9316935 C G SNP TMEM41B ENST00000299596 human ensembl 69_37n -1 known splice_site c.240-1 e3-1 1.000 - - - no_errors TMEM41B HGNC ENSG00000166471 162 0 0.00 70 33 32.04 - - - TMEM74 0 genome.wustl.edu 37 8 109796471 109796471 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 109796471 109796471 G A SNP TMEM74 ENST00000297459 human ensembl 69_37n -1 known missense c.857 p.T286M 0.001 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 155 0 0.00 178 37 17.05 - - - TOB1 0 genome.wustl.edu 37 17 48940734 48940734 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 48940734 48940734 G A SNP TOB1 ENST00000268957 human ensembl 69_37n -1 known silent c.645 p.D215 1.000 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB1 HGNC ENSG00000141232 122 0 0.00 112 175 60.98 - - - TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 96 0 0.00 53 143 72.59 - - - TRIM54 0 genome.wustl.edu 37 2 27527883 27527883 + Silent SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 27527883 27527883 A C SNP TRIM54 ENST00000296098 human ensembl 69_37n +1 known silent c.696 p.A232 0.996 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 134 1 0.74 54 26 32.50 - - - TRIML1 0 genome.wustl.edu 37 4 189064805 189064806 + RNA INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 189064805 189064806 - C INS TRIML1 ENST00000507581 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000 - - - no_errors TRIML1 HGNC ENSG00000184108 50 0 0.00 36 8 18.18 - - - TRIO 0 genome.wustl.edu 37 5 14492843 14492843 + Silent SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 14492843 14492843 C G SNP TRIO ENST00000344204 human ensembl 69_37n +1 known silent c.7800 p.P2600 0.972 superfamily_SH3_domain,smart_SH3_domain pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 107 0 0.00 4 14 77.78 - - - TRMT6 0 genome.wustl.edu 37 20 5921819 5921819 + RNA SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 5921819 5921819 C T SNP TRMT6 ENST00000466974 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TRMT6 HGNC ENSG00000089195 271 0 0.00 197 34 14.72 - - - TSR3 0 genome.wustl.edu 37 16 1399951 1399951 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 1399951 1399951 G C SNP TSR3 ENST00000007390 human ensembl 69_37n -1 known missense c.706 p.P236A 1.000 NULL pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom - no_errors TSR3 HGNC ENSG00000007520 137 0 0.00 8 7 46.67 - - - TTC24 0 genome.wustl.edu 37 1 156556333 156556333 + Missense_Mutation SNP T T G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 156556333 156556333 T G SNP TTC24 ENST00000340086 human ensembl 69_37n +1 known missense c.1058 p.L353R 0.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TTC24 HGNC ENSG00000187862 119 0 0.00 123 66 34.92 - - - TTC40 0 genome.wustl.edu 37 10 134743248 134743248 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 134743248 134743248 G A SNP TTC40 ENST00000368582 human ensembl 69_37n -1 known silent c.927 p.S309 0.012 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 102 0 0.00 43 34 44.16 - - - TTC40 0 genome.wustl.edu 37 10 134743250 134743250 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 134743250 134743250 A T SNP TTC40 ENST00000368582 human ensembl 69_37n -1 known missense c.925 p.S309T 0.012 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 98 0 0.00 41 31 42.47 - - - TTN 0 genome.wustl.edu 37 2 179426732 179426732 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 179426732 179426732 A G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.76423 p.S25475P 0.555 pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 89 0 0.00 66 15 18.52 - - - TTN 0 genome.wustl.edu 37 2 179426743 179426743 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 179426743 179426743 T A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.76412 p.N25471I 1.000 pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 82 0 0.00 59 13 18.06 - - - TTPAL 0 genome.wustl.edu 37 20 43115318 43115318 + Missense_Mutation SNP C C A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 20 43115318 43115318 C A SNP TTPAL ENST00000262605 human ensembl 69_37n +1 known missense c.722 p.P241Q 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 215 0 0.00 159 18 10.17 - - - UBAP2 0 genome.wustl.edu 37 9 33922571 33922571 + Frame_Shift_Del DEL G G - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 33922571 33922571 G - DEL UBAP2 ENST00000360802 human ensembl 69_37n -1 known frame_shift_del c.3291 p.S1098fs 1.000 NULL pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2 HGNC ENSG00000137073 114 0 0.00 111 16 12.60 - - - UGT1A8 0 genome.wustl.edu 37 2 234526443 234526443 + Silent SNP A A C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 234526443 234526443 A C SNP UGT1A8 ENST00000373450 human ensembl 69_37n +1 known silent c.90 p.V30 0.573 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A8 HGNC ENSG00000242366 171 0 0.00 235 57 19.52 - - - UNC80 0 genome.wustl.edu 37 2 210681810 210681811 + Frame_Shift_Ins INS - - AA TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 2 210681810 210681811 - AA INS UNC80 ENST00000439458 human ensembl 69_37n +1 known frame_shift_ins c.1513_1514 p.R505fs 0.969:1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 111 0 0.00 162 121 42.76 - - - USH2A 0 genome.wustl.edu 37 1 216138717 216138717 + Silent SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 216138717 216138717 G C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known silent c.7062 p.R2354 0.132 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 225 0 0.00 162 44 21.36 - - - USP21 0 genome.wustl.edu 37 1 161131732 161131732 + RNA SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 161131732 161131732 C T SNP USP21 ENST00000487163 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors USP21 HGNC ENSG00000143258 98 0 0.00 155 41 20.92 - - - USP36 0 genome.wustl.edu 37 17 76799656 76799656 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 76799656 76799656 T C SNP USP36 ENST00000312010 human ensembl 69_37n -1 known missense c.2621 p.Y874C 0.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC ENSG00000055483 60 0 0.00 44 45 50.00 - - - USP43 0 genome.wustl.edu 37 17 9631430 9631431 + Frame_Shift_Ins INS - - G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 9631430 9631431 - G INS USP43 ENST00000285199 human ensembl 69_37n +1 known frame_shift_ins c.2495_2496 p.V833fs 1.000:1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC ENSG00000154914 68 0 0.00 42 13 23.64 - - - USPL1 0 genome.wustl.edu 37 13 31232435 31232435 + Missense_Mutation SNP T T C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 13 31232435 31232435 T C SNP USPL1 ENST00000255304 human ensembl 69_37n +1 known missense c.2221 p.S741P 0.000 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 111 0 0.00 64 16 20.00 - - - VCAN 0 genome.wustl.edu 37 5 82817654 82817654 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 5 82817654 82817654 G C SNP VCAN ENST00000265077 human ensembl 69_37n +1 known missense c.3529 p.D1177H 0.009 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 138 0 0.00 108 33 23.40 - - - VLDLR 0 genome.wustl.edu 37 9 2643253 2643254 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 2643253 2643254 - C INS VLDLR ENST00000382100 human ensembl 69_37n +1 known frame_shift_ins c.542_543 p.G182fs 1.000:1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 40 0 0.00 51 24 32.00 - - - VLDLR 0 genome.wustl.edu 37 9 2643257 2643257 + Frame_Shift_Del DEL C C - TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 2643257 2643257 C - DEL VLDLR ENST00000382100 human ensembl 69_37n +1 known frame_shift_del c.546 p.S183fs 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 41 0 0.00 56 24 30.00 - - - VPRBP 0 genome.wustl.edu 37 3 51450832 51450832 + Nonsense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 3 51450832 51450832 G A SNP VPRBP ENST00000335891 human ensembl 69_37n -1 known nonsense c.2593 p.Q865* 1.000 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 181 0 0.00 163 103 38.72 - - - VPS4B 0 genome.wustl.edu 37 18 61071015 61071015 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 18 61071015 61071015 C G SNP VPS4B ENST00000238497 human ensembl 69_37n -1 known missense c.409 p.A137P 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 182 0 0.00 71 11 13.25 - - - WDR26 0 genome.wustl.edu 37 1 224612368 224612368 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 1 224612368 224612368 G A SNP WDR26 ENST00000366852 human ensembl 69_37n -1 known silent c.633 p.F211 1.000 NULL pfscan_LisH_dimerisation - no_errors WDR26 HGNC ENSG00000162923 110 0 0.00 247 103 29.43 - - - WHSC1 0 genome.wustl.edu 37 4 1936971 1936971 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 4 1936971 1936971 C G SNP WHSC1 ENST00000382891 human ensembl 69_37n +1 known missense c.1656 p.D552E 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 286 0 0.00 97 68 41.21 - - - WNK2 0 genome.wustl.edu 37 9 96015239 96015240 + Frame_Shift_Ins INS - - T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 96015239 96015240 - T INS WNK2 ENST00000297954 human ensembl 69_37n +1 known frame_shift_ins c.1909_1910 p.G638fs 0.985:0.944 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC ENSG00000165238 17 0 0.00 6 4 40.00 - - - WNK2 0 genome.wustl.edu 37 9 96015243 96015244 + Frame_Shift_Ins INS - - C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 9 96015243 96015244 - C INS WNK2 ENST00000297954 human ensembl 69_37n +1 known frame_shift_ins c.1913_1914 p.S639fs 0.469:0.438 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC ENSG00000165238 17 0 0.00 6 4 40.00 - - - WTAP 0 genome.wustl.edu 37 6 160164787 160164787 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 6 160164787 160164787 G A SNP WTAP ENST00000358372 human ensembl 69_37n +1 known missense c.236 p.R79Q 0.974 NULL NULL - no_errors WTAP HGNC ENSG00000146457 121 0 0.00 19 42 68.85 - - - ZBTB10 0 genome.wustl.edu 37 8 81399784 81399784 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 81399784 81399784 C G SNP ZBTB10 ENST00000426744 human ensembl 69_37n +1 known missense c.739 p.Q247E 0.999 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 ZBTB10 HGNC ENSG00000205189 69 0 0.00 51 19 26.76 - - - ZNF233 0 genome.wustl.edu 37 19 44771096 44771096 + Nonsense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 44771096 44771096 C T SNP ZNF233 ENST00000391958 human ensembl 69_37n +1 known nonsense c.220 p.Q74* 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 151 0 0.00 403 319 44.12 - - - ZNF423 0 genome.wustl.edu 37 16 49764856 49764856 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 49764856 49764856 C G SNP ZNF423 ENST00000262383 human ensembl 69_37n -1 known missense c.103 p.D35H 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 314 0 0.00 222 43 16.17 - - - ZNF460 0 genome.wustl.edu 37 19 57802751 57802751 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 57802751 57802751 T A SNP ZNF460 ENST00000360338 human ensembl 69_37n +1 known missense c.842 p.V281E 0.000 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 ZNF460 HGNC ENSG00000197714 109 0 0.00 156 72 31.44 - - - ZNF460 0 genome.wustl.edu 37 19 57802758 57802758 + Missense_Mutation SNP T T A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 57802758 57802758 T A SNP ZNF460 ENST00000360338 human ensembl 69_37n +1 known missense c.849 p.N283K 0.000 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 ZNF460 HGNC ENSG00000197714 109 0 0.00 165 83 33.47 - - - ZNF460 0 genome.wustl.edu 37 19 57803103 57803103 + Silent SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 57803103 57803103 G A SNP ZNF460 ENST00000360338 human ensembl 69_37n +1 known silent c.1194 p.G398 0.994 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 ZNF460 HGNC ENSG00000197714 214 0 0.00 319 58 15.38 - - - ZNF518A 0 genome.wustl.edu 37 10 97919091 97919091 + RNA SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 10 97919091 97919091 G C SNP ZNF518A ENST00000316045 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors ZNF518A HGNC ENSG00000177853 58 0 0.00 27 6 18.18 - - - ZNF568 0 genome.wustl.edu 37 19 37488450 37488450 + Silent SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 37488450 37488450 C T SNP ZNF568 ENST00000455427 human ensembl 69_37n +1 known silent c.1665 p.Y555 0.070 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 ZNF568 HGNC ENSG00000198453 36 0 0.00 32 8 20.00 - - - ZNF572 0 genome.wustl.edu 37 8 125988800 125988800 + Missense_Mutation SNP A A T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 8 125988800 125988800 A T SNP ZNF572 ENST00000319286 human ensembl 69_37n +1 known missense c.290 p.N97I 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 204 0 0.00 364 62 14.55 - - - ZNF646 0 genome.wustl.edu 37 16 31089275 31089275 + Missense_Mutation SNP G G A TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 16 31089275 31089275 G A SNP ZNF646 ENST00000300850 human ensembl 69_37n +1 known missense c.1630 p.A544T 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 101 0 0.00 9 12 57.14 - - - ZNF700 0 genome.wustl.edu 37 19 12060148 12060148 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 12060148 12060148 G C SNP ZNF700 ENST00000254321 human ensembl 69_37n +1 known missense c.1309 p.G437R 0.054 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 ZNF700 HGNC ENSG00000196757 126 0 0.00 60 51 45.54 - - - ZNF700 0 genome.wustl.edu 37 19 12060149 12060149 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 12060149 12060149 G C SNP ZNF700 ENST00000254321 human ensembl 69_37n +1 known missense c.1310 p.G437A 0.042 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 ZNF700 HGNC ENSG00000196757 127 0 0.00 60 50 45.45 - - - ZNF77 0 genome.wustl.edu 37 19 2934038 2934038 + Missense_Mutation SNP A A G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 2934038 2934038 A G SNP ZNF77 ENST00000314531 human ensembl 69_37n -1 known missense c.1087 p.Y363H 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 ZNF77 HGNC ENSG00000175691 87 0 0.00 144 21 12.65 - - - ZNF862 0 genome.wustl.edu 37 7 149558861 149558861 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 7 149558861 149558861 C T SNP ZNF862 ENST00000223210 human ensembl 69_37n +1 known missense c.2612 p.T871M 0.079 NULL pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 43 0 0.00 22 4 15.38 - - - ZNF90 0 genome.wustl.edu 37 19 20229739 20229739 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 19 20229739 20229739 G C SNP ZNF90 ENST00000418063 human ensembl 69_37n +1 known missense c.1376 p.G459A 0.997 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 ZNF90 HGNC ENSG00000213988 124 0 0.00 109 66 37.50 - - - ZZEF1 0 genome.wustl.edu 37 17 3980278 3980278 + Missense_Mutation SNP C C T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f377217c-399f-4b3f-9090-fa5189b2bfc6 33e470a6-8474-437d-9161-050d972d3fc8 17 3980278 3980278 C T SNP ZZEF1 ENST00000381638 human ensembl 69_37n -1 known missense c.2995 p.G999S 0.761 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 117 0 0.00 104 119 53.36 - - -