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 48443387 48443387 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 48443387 48443387 C G SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.11981 p.S3994W 0.996 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 178 0 0.00 97 15 13.27 - - - ABCB1 0 genome.wustl.edu 37 7 87160672 87160672 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 87160672 87160672 C T SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known missense c.2623 p.E875K 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 258 0 0.00 87 35 28.69 - - - ABCC9 0 genome.wustl.edu 37 12 22005123 22005123 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 22005123 22005123 C G SNP ABCC9 ENST00000261200 human ensembl 69_37n -1 known missense c.2677 p.E893Q 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC9 HGNC ENSG00000069431 329 0 0.00 190 28 12.84 - - - ABCG2 0 genome.wustl.edu 37 4 89060991 89060991 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 89060991 89060991 G A SNP ABCG2 ENST00000237612 human ensembl 69_37n -1 known silent c.157 p.L53 0.034 pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG2 HGNC ENSG00000118777 182 0 0.00 89 18 16.82 - - - ABCG4 0 genome.wustl.edu 37 11 119029576 119029576 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 119029576 119029576 C G SNP ABCG4 ENST00000307417 human ensembl 69_37n +1 known silent c.1374 p.L458 1.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 142 0 0.00 88 10 10.20 - - - ABLIM1 0 genome.wustl.edu 37 10 116205085 116205085 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 116205085 116205085 C G SNP ABLIM1 ENST00000277895 human ensembl 69_37n -1 known missense c.2017 p.E673Q 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 338 0 0.00 160 21 11.60 - - - ACACA 0 genome.wustl.edu 37 17 35549229 35549229 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 35549229 35549229 G C SNP ACACA ENST00000353139 human ensembl 69_37n -1 known missense c.4218 p.I1406M 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 87 0 0.00 47 6 11.32 - - - ACACB 0 genome.wustl.edu 37 12 109684081 109684081 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 109684081 109684081 G T SNP ACACB ENST00000338432 human ensembl 69_37n +1 known missense c.5399 p.G1800V 1.000 pfam_Carboxyl_trans pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 71 0 0.00 34 13 27.66 - - - ACSM2B 0 genome.wustl.edu 37 16 20575996 20575996 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 20575996 20575996 C G SNP ACSM2B ENST00000329697 human ensembl 69_37n -1 known missense c.172 p.E58Q 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 365 0 0.00 221 37 14.34 - - - ADAM29 0 genome.wustl.edu 37 4 175898228 175898228 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 175898228 175898228 G A SNP ADAM29 ENST00000359240 human ensembl 69_37n +1 known missense c.1552 p.E518K 0.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 130 0 0.00 47 13 21.67 - - - ADAM7 0 genome.wustl.edu 37 8 24323268 24323268 + Silent SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 24323268 24323268 C A SNP ADAM7 ENST00000175238 human ensembl 69_37n +1 known silent c.369 p.I123 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 258 0 0.00 142 23 13.94 - - - ADAMTS14 0 genome.wustl.edu 37 10 72503854 72503854 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 72503854 72503854 G A SNP ADAMTS14 ENST00000373208 human ensembl 69_37n +1 known missense c.2100 p.M700I 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 65 0 0.00 31 7 18.42 - - - ADAMTS16 0 genome.wustl.edu 37 5 5237177 5237177 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 5237177 5237177 G C SNP ADAMTS16 ENST00000274181 human ensembl 69_37n +1 known missense c.2119 p.D707H 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 349 0 0.00 132 69 34.33 - - - ADAMTS20 0 genome.wustl.edu 37 12 43769235 43769235 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 43769235 43769235 C G SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known missense c.5393 p.G1798A 1.000 pfam_Pept_M12B_GON-ADAMTSs,pfscan_Pept_M12B_GON-ADAMTSs 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 346 0 0.00 167 25 13.02 - - - ADAMTS3 0 genome.wustl.edu 37 4 73185063 73185063 + Silent SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 73185063 73185063 C A SNP ADAMTS3 ENST00000286657 human ensembl 69_37n -1 known silent c.1338 p.L446 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 124 0 0.00 76 11 12.64 - - - ADAT1 0 genome.wustl.edu 37 16 75646670 75646670 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 75646670 75646670 C G SNP ADAT1 ENST00000307921 human ensembl 69_37n -1 known missense c.514 p.E172Q 0.006 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADAT1 HGNC ENSG00000065457 214 0 0.00 117 19 13.97 - - - ADCY3 0 genome.wustl.edu 37 2 25141245 25141245 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 25141245 25141245 G A SNP ADCY3 ENST00000260600 human ensembl 69_37n -1 known silent c.612 p.V204 0.939 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 55 0 0.00 28 5 15.15 - - - ADPRHL2 0 genome.wustl.edu 37 1 36557534 36557534 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 36557534 36557534 G A SNP ADPRHL2 ENST00000373178 human ensembl 69_37n +1 known silent c.540 p.L180 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 169 0 0.00 128 15 10.49 - - - AFAP1L1 0 genome.wustl.edu 37 5 148689611 148689611 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 148689611 148689611 G A SNP AFAP1L1 ENST00000296721 human ensembl 69_37n +1 known silent c.840 p.K280 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 98 0 0.00 31 16 33.33 - - - AFF2 0 genome.wustl.edu 37 X 148062291 148062291 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 148062291 148062291 G C SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known missense c.3594 p.Q1198H 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 180 0 0.00 63 14 18.18 - - - AGTPBP1 0 genome.wustl.edu 37 9 88162079 88162079 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 88162079 88162079 G A SNP AGTPBP1 ENST00000376109 human ensembl 69_37n -1 known missense c.3662 p.S1221F 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 358 0 0.00 145 38 20.77 - - - AHCYL2 0 genome.wustl.edu 37 7 129029010 129029010 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 129029010 129029010 G C SNP AHCYL2 ENST00000325006 human ensembl 69_37n +1 known missense c.589 p.G197R 1.000 pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 139 0 0.00 94 17 15.32 - - - AHNAK 0 genome.wustl.edu 37 11 62285902 62285902 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 62285902 62285902 G C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known silent c.15987 p.L5329 0.708 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 59 0 0.00 36 4 10.00 - - - AHNAK2 0 genome.wustl.edu 37 14 105416670 105416670 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 105416670 105416670 G A SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.5118 p.L1706 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 208 0 0.00 150 24 13.71 - - - AK3 0 genome.wustl.edu 37 9 4718472 4718472 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 4718472 4718472 G C SNP AK3 ENST00000381809 human ensembl 69_37n -1 known missense c.510 p.I170M 0.955 pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ENSG00000147853 309 0 0.00 218 31 12.45 - - - AKAP11 0 genome.wustl.edu 37 13 42871200 42871200 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 42871200 42871200 C G SNP AKAP11 ENST00000025301 human ensembl 69_37n +1 known missense c.233 p.S78C 1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 140 0 0.00 78 15 16.13 - - - AKAP11 0 genome.wustl.edu 37 13 42874661 42874661 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 42874661 42874661 G C SNP AKAP11 ENST00000025301 human ensembl 69_37n +1 known missense c.1779 p.Q593H 1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 119 0 0.00 44 15 25.42 - - - AKAP11 0 genome.wustl.edu 37 13 42875998 42875998 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 42875998 42875998 C T SNP AKAP11 ENST00000025301 human ensembl 69_37n +1 known missense c.3116 p.S1039F 0.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 169 0 0.00 85 12 12.37 - - - ALDH16A1 0 genome.wustl.edu 37 19 49965874 49965874 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 49965874 49965874 G A SNP ALDH16A1 ENST00000293350 human ensembl 69_37n +1 known missense c.960 p.M320I 0.088 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 84 0 0.00 52 8 13.33 - - - ALKBH8 0 genome.wustl.edu 37 11 107403094 107403094 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 107403094 107403094 C T SNP ALKBH8 ENST00000417449 human ensembl 69_37n -1 known silent c.819 p.V273 0.993 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 139 0 0.00 55 13 19.12 - - - ALLC 0 genome.wustl.edu 37 2 3729280 3729280 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 3729280 3729280 G C SNP ALLC ENST00000252505 human ensembl 69_37n +1 known missense c.355 p.E119Q 0.752 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 138 0 0.00 66 13 16.46 - - - ALOX5 0 genome.wustl.edu 37 10 45936913 45936913 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 45936913 45936913 G A SNP ALOX5 ENST00000475300 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ALOX5 HGNC ENSG00000012779 99 0 0.00 70 18 20.45 - - - ALS2 0 genome.wustl.edu 37 2 202614505 202614505 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 202614505 202614505 G A SNP ALS2 ENST00000264276 human ensembl 69_37n -1 known missense c.1745 p.S582L 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,prints_Reg_chr_condens,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain - no_errors ALS2 HGNC ENSG00000003393 182 0 0.00 69 11 13.75 - - - AMPH 0 genome.wustl.edu 37 7 38475929 38475929 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 38475929 38475929 G C SNP AMPH ENST00000356264 human ensembl 69_37n -1 known missense c.1077 p.F359L 1.000 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 175 0 0.00 94 15 13.76 - - - ANAPC5 0 genome.wustl.edu 37 12 121746349 121746349 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 121746349 121746349 C T SNP ANAPC5 ENST00000261819 human ensembl 69_37n -1 known silent c.2202 p.A734 0.346 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 84 0 0.00 61 22 26.51 - - - ANKRD12 0 genome.wustl.edu 37 18 9254693 9254693 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 9254693 9254693 G C SNP ANKRD12 ENST00000262126 human ensembl 69_37n +1 known missense c.1428 p.L476F 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD12 HGNC ENSG00000101745 32 0 0.00 7 3 30.00 - - - ANKRD18CP 0 genome.wustl.edu 37 9 99922660 99922660 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 99922660 99922660 G C SNP ANKRD18CP ENST00000354752 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors ANKRD18CP HGNC ENSG00000159712 112 0 0.00 50 8 13.79 - - - ANKRD32 0 genome.wustl.edu 37 5 93988976 93988976 + Splice_Site SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 93988976 93988976 G C SNP ANKRD32 ENST00000265140 human ensembl 69_37n +1 known splice_site c.883-1 e7-1 0.997 - - - no_errors ANKRD32 HGNC ENSG00000133302 197 0 0.00 65 22 25.29 - - - ANKRD36C 0 genome.wustl.edu 37 2 96657421 96657421 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 96657421 96657421 G A SNP ANKRD36C ENST00000456556 human ensembl 69_37n -1 known silent c.36 p.L12 0.016 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 115 0 0.00 61 10 14.08 - - - ANLN 0 genome.wustl.edu 37 7 36447421 36447421 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 36447421 36447421 C G SNP ANLN ENST00000265748 human ensembl 69_37n +1 known missense c.952 p.P318A 0.005 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors ANLN HGNC ENSG00000011426 175 0 0.00 90 10 10.00 - - - AP1G2 0 genome.wustl.edu 37 14 24035526 24035526 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 24035526 24035526 C G SNP AP1G2 ENST00000308724 human ensembl 69_37n -1 known missense c.432 p.E144D 0.997 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 69 0 0.00 36 5 12.20 - - - AP4S1 0 genome.wustl.edu 37 14 31542162 31542162 + Nonsense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 31542162 31542162 G T SNP AP4S1 ENST00000216366 human ensembl 69_37n +1 known nonsense c.277 p.E93* 0.999 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP4S1 HGNC ENSG00000100478 393 0 0.00 198 28 12.33 - - - AP5Z1 0 genome.wustl.edu 37 7 4820902 4820902 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 4820902 4820902 G C SNP AP5Z1 ENST00000348624 human ensembl 69_37n +1 known missense c.138 p.Q46H 0.999 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 70 0 0.00 49 10 16.95 - - - APAF1 0 genome.wustl.edu 37 12 99043418 99043418 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 99043418 99043418 C G SNP APAF1 ENST00000551964 human ensembl 69_37n +1 known missense c.482 p.S161C 1.000 pfam_NB-ARC,pirsf_Apoptotic_pept-activating_1,prints_Disease_R pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 244 0 0.00 132 16 10.74 - - - APBB1IP 0 genome.wustl.edu 37 10 26825036 26825036 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 26825036 26825036 G C SNP APBB1IP ENST00000376236 human ensembl 69_37n +1 known missense c.934 p.E312Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 123 0 0.00 37 5 11.90 - - - APOF 0 genome.wustl.edu 37 12 56755654 56755654 + Nonsense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 56755654 56755654 G T SNP APOF ENST00000398189 human ensembl 69_37n -1 known nonsense c.336 p.Y112* 0.001 NULL NULL - no_errors APOF HGNC ENSG00000175336 166 0 0.00 105 25 19.23 - - - APOL4 0 genome.wustl.edu 37 22 36587940 36587940 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 22 36587940 36587940 G C SNP APOL4 ENST00000352371 human ensembl 69_37n -1 known silent c.237 p.L79 0.000 pfam_ApoL pfam_ApoL - no_errors APOL4 HGNC ENSG00000100336 150 0 0.00 68 9 11.54 - - - AQP10 0 genome.wustl.edu 37 1 154296361 154296361 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 154296361 154296361 C T SNP AQP10 ENST00000484864 human ensembl 69_37n +1 known silent c.786 p.L262 0.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3 - no_errors AQP10 HGNC ENSG00000143595 38 0 0.00 15 5 25.00 - - - ARHGAP18 0 genome.wustl.edu 37 6 129959745 129959745 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 129959745 129959745 C T SNP ARHGAP18 ENST00000275189 human ensembl 69_37n -1 known missense c.346 p.E116K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 169 0 0.00 102 15 12.82 - - - ARHGAP32 0 genome.wustl.edu 37 11 128839196 128839196 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 128839196 128839196 G C SNP ARHGAP32 ENST00000310343 human ensembl 69_37n -1 known missense c.5870 p.S1957C 0.761 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 104 0 0.00 66 12 15.19 - - - ARHGAP4 0 genome.wustl.edu 37 X 153176593 153176593 + Nonsense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 153176593 153176593 G C SNP ARHGAP4 ENST00000442172 human ensembl 69_37n -1 novel nonsense c.137 p.S46* 0.998 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ARHGAP4 HGNC ENSG00000089820 105 0 0.00 68 15 18.07 - - - ARHGEF10L 0 genome.wustl.edu 37 1 17961022 17961022 + RNA SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 17961022 17961022 C A SNP ARHGEF10L ENST00000482359 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors ARHGEF10L HGNC ENSG00000074964 276 0 0.00 168 47 21.86 - - - ARHGEF19 0 genome.wustl.edu 37 1 16534659 16534659 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 16534659 16534659 G A SNP ARHGEF19 ENST00000270747 human ensembl 69_37n -1 known silent c.474 p.V158 0.917 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 59 0 0.00 46 6 11.54 - - - ARL6 0 genome.wustl.edu 37 3 97503846 97503846 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 97503846 97503846 G C SNP ARL6 ENST00000335979 human ensembl 69_37n +1 known missense c.302 p.R101T 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL6 HGNC ENSG00000113966 445 0 0.00 215 31 12.60 - - - ARMC2 0 genome.wustl.edu 37 6 109258196 109258196 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 109258196 109258196 G A SNP ARMC2 ENST00000392644 human ensembl 69_37n +1 known silent c.1590 p.K530 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 243 0 0.00 127 15 10.56 - - - ARMC2 0 genome.wustl.edu 37 6 109283314 109283314 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 109283314 109283314 C T SNP ARMC2 ENST00000392644 human ensembl 69_37n +1 known silent c.2136 p.F712 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 194 0 0.00 90 11 10.89 - - - ARMC4 0 genome.wustl.edu 37 10 28250537 28250537 + Nonsense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 28250537 28250537 G C SNP ARMC4 ENST00000305242 human ensembl 69_37n -1 known nonsense c.1346 p.S449* 0.981 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 175 0 0.00 76 10 11.63 - - - ARSK 0 genome.wustl.edu 37 5 94918723 94918723 + Nonsense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 94918723 94918723 G T SNP ARSK ENST00000380009 human ensembl 69_37n +1 known nonsense c.520 p.E174* 0.124 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 194 0 0.00 94 30 24.19 - - - ASH2L 0 genome.wustl.edu 37 8 37996376 37996376 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 37996376 37996376 G A SNP ASH2L ENST00000343823 human ensembl 69_37n +1 known missense c.1762 p.D588N 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors ASH2L HGNC ENSG00000129691 303 0 0.00 221 26 10.53 - - - ASMTL 0 genome.wustl.edu 37 X 1551179 1551179 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 1551179 1551179 G A SNP ASMTL ENST00000381317 human ensembl 69_37n -1 known silent c.492 p.V164 0.999 pfam_Maf,tigrfam_Maf pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 196 0 0.00 137 28 16.97 - - - ASPG 0 genome.wustl.edu 37 14 104575607 104575607 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 104575607 104575607 C A SNP ASPG ENST00000455920 human ensembl 69_37n +1 known missense c.1475 p.S492Y 0.992 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,tigrfam_AsnASEI - no_errors ASPG HGNC ENSG00000166183 107 0 0.00 51 8 13.56 - - - ASTN1 0 genome.wustl.edu 37 1 176863943 176863943 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 176863943 176863943 C T SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known missense c.2719 p.E907K 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 87 0 0.00 46 10 17.86 - - - ASTN2 0 genome.wustl.edu 37 9 119626003 119626003 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 119626003 119626003 C T SNP ASTN2 ENST00000313400 human ensembl 69_37n -1 known silent c.1899 p.A633 0.306 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 143 0 0.00 73 27 27.00 - - - ATF7IP 0 genome.wustl.edu 37 12 14610211 14610211 + Nonsense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 14610211 14610211 C T SNP ATF7IP ENST00000261168 human ensembl 69_37n +1 known nonsense c.2140 p.Q714* 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 240 0 0.00 93 26 21.85 - - - ATG9B 0 genome.wustl.edu 37 7 150714279 150714279 + RNA SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 150714279 150714279 G T SNP ATG9B ENST00000377974 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ATG9B HGNC ENSG00000181652 25 0 0.00 23 6 20.69 - - - ATP13A5 0 genome.wustl.edu 37 3 193081941 193081941 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 193081941 193081941 G A SNP ATP13A5 ENST00000342358 human ensembl 69_37n -1 known silent c.192 p.I64 0.009 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ENSG00000187527 75 0 0.00 43 26 37.68 - - - ATP2B1 0 genome.wustl.edu 37 12 90010690 90010690 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 90010690 90010690 G C SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known missense c.1956 p.F652L 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 380 0 0.00 242 31 11.31 - - - ATP2B2 0 genome.wustl.edu 37 3 10392112 10392112 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 10392112 10392112 G C SNP ATP2B2 ENST00000352432 human ensembl 69_37n -1 known missense c.2286 p.F762L 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ENSG00000157087 128 0 0.00 63 14 18.18 - - - ATP2B4 0 genome.wustl.edu 37 1 203652420 203652420 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 203652420 203652420 G A SNP ATP2B4 ENST00000357681 human ensembl 69_37n +1 known silent c.87 p.L29 0.987 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 98 0 0.00 66 8 10.81 - - - AXL 0 genome.wustl.edu 37 19 41762429 41762429 + Nonsense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 41762429 41762429 C A SNP AXL ENST00000301178 human ensembl 69_37n +1 known nonsense c.2109 p.Y703* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 160 1 0.62 104 20 16.13 - - - B4GALNT2 0 genome.wustl.edu 37 17 47219488 47219488 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 47219488 47219488 G A SNP B4GALNT2 ENST00000300404 human ensembl 69_37n +1 known missense c.487 p.A163T 0.446 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 138 0 0.00 102 16 13.56 - - - BAAT 0 genome.wustl.edu 37 9 104133443 104133443 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 104133443 104133443 G A SNP BAAT ENST00000259407 human ensembl 69_37n -1 known silent c.244 p.L82 0.795 pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 123 0 0.00 62 16 20.51 - - - BAZ1A 0 genome.wustl.edu 37 14 35249434 35249434 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 35249434 35249434 C T SNP BAZ1A ENST00000360310 human ensembl 69_37n -1 known missense c.2194 p.E732K 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 422 1 0.24 263 35 11.74 - - - BAZ1A 0 genome.wustl.edu 37 14 35343775 35343775 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 35343775 35343775 C T SNP BAZ1A ENST00000360310 human ensembl 69_37n -1 known silent c.36 p.Q12 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 37 0 0.00 32 10 23.81 - - - BCL2L13 0 genome.wustl.edu 37 22 18210154 18210154 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 22 18210154 18210154 G A SNP BCL2L13 ENST00000317582 human ensembl 69_37n +1 known missense c.1312 p.E438K 0.003 NULL pfam_Bcl2_BH,pfscan_Bcl2-like_apoptosis - no_errors BCL2L13 HGNC ENSG00000099968 81 0 0.00 38 5 11.63 - - - BCR 0 genome.wustl.edu 37 22 23655135 23655135 + Silent SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 22 23655135 23655135 G T SNP BCR ENST00000305877 human ensembl 69_37n +1 known silent c.3384 p.L1128 0.996 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom 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 68 0 0.00 23 8 25.81 - - - BHLHB9 0 genome.wustl.edu 37 X 102004803 102004803 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 102004803 102004803 G A SNP BHLHB9 ENST00000361229 human ensembl 69_37n +1 known missense c.880 p.E294K 0.960 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 127 0 0.00 55 7 11.29 - - - BPTF 0 genome.wustl.edu 37 17 65871671 65871671 + Splice_Site SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 65871671 65871671 G C SNP BPTF ENST00000321892 human ensembl 69_37n +1 known splice_site c.1865-1 e5-1 1.000 - - - no_errors BPTF HGNC ENSG00000171634 76 0 0.00 45 5 10.00 - - - BPTF 0 genome.wustl.edu 37 17 65908868 65908868 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 65908868 65908868 C G SNP BPTF ENST00000321892 human ensembl 69_37n +1 known missense c.5246 p.S1749C 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 85 0 0.00 72 8 10.00 - - - BRE 0 genome.wustl.edu 37 2 28268663 28268663 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 28268663 28268663 C G SNP BRE ENST00000344773 human ensembl 69_37n +1 known silent c.567 p.L189 1.000 pfam_Brain/reproduct-express_prot pfam_Brain/reproduct-express_prot - no_errors BRE HGNC ENSG00000158019 141 0 0.00 72 12 14.29 - - - BTBD7 0 genome.wustl.edu 37 14 93709172 93709172 + Nonsense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 93709172 93709172 G C SNP BTBD7 ENST00000334746 human ensembl 69_37n -1 known nonsense c.2846 p.S949* 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 478 0 0.00 270 35 11.48 - - - C10orf47 0 genome.wustl.edu 37 10 11908538 11908538 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 11908538 11908538 G A SNP C10orf47 ENST00000277570 human ensembl 69_37n +1 known silent c.147 p.E49 1.000 NULL NULL - no_errors C10orf47 HGNC ENSG00000148426 119 0 0.00 60 10 14.29 - - - C11orf94 0 genome.wustl.edu 37 11 45928734 45928734 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 45928734 45928734 G A SNP C11orf94 ENST00000449465 human ensembl 69_37n -1 known silent c.63 p.L21 0.000 NULL NULL - no_errors C11orf94 HGNC ENSG00000234776 27 0 0.00 24 5 17.24 - - - C14orf102 0 genome.wustl.edu 37 14 90745473 90745473 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 90745473 90745473 G C SNP C14orf102 ENST00000354366 human ensembl 69_37n -1 known missense c.3302 p.S1101C 1.000 NULL pfam_NRDE-2 - no_errors C14orf102 HGNC ENSG00000119720 301 0 0.00 150 20 11.70 - - - C14orf102 0 genome.wustl.edu 37 14 90764656 90764656 + Nonsense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 90764656 90764656 C T SNP C14orf102 ENST00000354366 human ensembl 69_37n -1 known nonsense c.1614 p.W538* 1.000 pfam_NRDE-2 pfam_NRDE-2 - no_errors C14orf102 HGNC ENSG00000119720 75 0 0.00 48 7 12.73 - - - C14orf38 0 genome.wustl.edu 37 14 60035077 60035077 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 60035077 60035077 C A SNP C14orf38 ENST00000281581 human ensembl 69_37n -1 known missense c.377 p.R126I 0.000 NULL superfamily_Prefoldin - no_errors C14orf38 HGNC ENSG00000151838 223 0 0.00 132 21 13.73 - - - C15orf56 0 genome.wustl.edu 37 15 40544625 40544625 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 40544625 40544625 G C SNP C15orf56 ENST00000319503 human ensembl 69_37n -1 known missense c.347 p.S116C 0.000 NULL NULL - no_errors C15orf56 HGNC ENSG00000176753 29 0 0.00 18 4 18.18 - - - C16orf59 0 genome.wustl.edu 37 16 2512165 2512165 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 2512165 2512165 C G SNP C16orf59 ENST00000565716 human ensembl 69_37n +1 known missense c.358 p.Q120E 0.103 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C16orf59 HGNC ENSG00000162062 52 0 0.00 31 5 13.89 - - - C16orf96 0 genome.wustl.edu 37 16 4625175 4625175 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 4625175 4625175 G C SNP C16orf96 ENST00000444310 human ensembl 69_37n +1 known missense c.694 p.E232Q 0.048 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 55 0 0.00 33 5 12.82 - - - C1QTNF7 0 genome.wustl.edu 37 4 15443812 15443812 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 15443812 15443812 C A SNP C1QTNF7 ENST00000429690 human ensembl 69_37n +1 known missense c.259 p.P87T 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF7 HGNC ENSG00000163145 101 0 0.00 41 19 31.67 - - - C1QTNF8 0 genome.wustl.edu 37 16 1144797 1144797 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 1144797 1144797 C G SNP C1QTNF8 ENST00000328449 human ensembl 69_37n -1 known silent c.126 p.V42 0.001 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF8 HGNC ENSG00000184471 83 0 0.00 44 8 15.38 - - - C1orf129 0 genome.wustl.edu 37 1 170931075 170931075 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 170931075 170931075 G C SNP C1orf129 ENST00000367759 human ensembl 69_37n +1 known silent c.333 p.T111 0.656 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf129 HGNC ENSG00000117501 107 0 0.00 54 7 11.48 - - - C1orf177 0 genome.wustl.edu 37 1 55272746 55272746 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 55272746 55272746 C T SNP C1orf177 ENST00000371273 human ensembl 69_37n +1 known missense c.182 p.S61F 0.027 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 254 0 0.00 124 22 14.97 - - - C1orf212 0 genome.wustl.edu 37 1 35321395 35321395 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 35321395 35321395 G C SNP C1orf212 ENST00000417239 human ensembl 69_37n -1 known missense c.184 p.L62V 0.956 NULL NULL - no_errors C1orf212 HGNC ENSG00000163866 200 0 0.00 124 20 13.89 - - - C2orf16 0 genome.wustl.edu 37 2 27802182 27802182 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 27802182 27802182 G C SNP C2orf16 ENST00000408964 human ensembl 69_37n +1 known missense c.2743 p.E915Q 0.002 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 129 0 0.00 67 10 12.99 - - - C2orf71 0 genome.wustl.edu 37 2 29296153 29296153 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 29296153 29296153 C T SNP C2orf71 ENST00000331664 human ensembl 69_37n -1 novel silent c.975 p.L325 0.975 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 73 0 0.00 49 6 10.91 - - - C3orf19 0 genome.wustl.edu 37 3 14706596 14706596 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 14706596 14706596 C T SNP C3orf19 ENST00000383794 human ensembl 69_37n +1 known silent c.547 p.L183 0.998 NULL NULL - no_errors C3orf19 HGNC ENSG00000154781 359 1 0.28 166 35 17.41 - - - C7orf10 0 genome.wustl.edu 37 7 40356401 40356401 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 40356401 40356401 C G SNP C7orf10 ENST00000309930 human ensembl 69_37n +1 known missense c.784 p.Q262E 0.074 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 168 0 0.00 106 14 11.57 - - - C8orf58 0 genome.wustl.edu 37 8 22458455 22458455 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 22458455 22458455 G A SNP C8orf58 ENST00000289989 human ensembl 69_37n +1 known missense c.101 p.R34K 0.731 NULL NULL - no_errors C8orf58 HGNC ENSG00000241852 30 0 0.00 25 7 21.88 - - - C9 0 genome.wustl.edu 37 5 39316109 39316109 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 39316109 39316109 C T SNP C9 ENST00000263408 human ensembl 69_37n -1 known missense c.638 p.R213K 0.537 NULL pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C9 HGNC ENSG00000113600 148 0 0.00 74 14 15.91 - - - C9orf96 0 genome.wustl.edu 37 9 136263151 136263151 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 136263151 136263151 G C SNP C9orf96 ENST00000371957 human ensembl 69_37n +1 known missense c.1050 p.K350N 0.003 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors C9orf96 HGNC ENSG00000198870 111 0 0.00 62 9 12.68 - - - CA1 0 genome.wustl.edu 37 8 86242044 86242044 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 86242044 86242044 G C SNP CA1 ENST00000256119 human ensembl 69_37n -1 known missense c.543 p.D181E 1.000 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 CA1 HGNC ENSG00000133742 276 0 0.00 128 16 11.11 - - - CACNA1D 0 genome.wustl.edu 37 3 53766067 53766067 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 53766067 53766067 G C SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.2491 p.E831Q 1.000 NULL 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 158 0 0.00 60 7 10.45 - - - CALCOCO2 0 genome.wustl.edu 37 17 46926688 46926688 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 46926688 46926688 C G SNP CALCOCO2 ENST00000258947 human ensembl 69_37n +1 known missense c.492 p.I164M 0.005 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO2 HGNC ENSG00000136436 146 0 0.00 68 15 18.07 - - - CAMK1G 0 genome.wustl.edu 37 1 209773405 209773405 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 209773405 209773405 C T SNP CAMK1G ENST00000009105 human ensembl 69_37n +1 known missense c.170 p.S57L 0.997 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 CAMK1G HGNC ENSG00000008118 106 0 0.00 71 9 11.25 - - - CAMTA1 0 genome.wustl.edu 37 1 7806023 7806023 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 7806023 7806023 G C SNP CAMTA1 ENST00000303635 human ensembl 69_37n +1 known missense c.4489 p.E1497Q 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,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 154 0 0.00 90 12 11.76 - - - CASC3 0 genome.wustl.edu 37 17 38324472 38324472 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 38324472 38324472 G C SNP CASC3 ENST00000264645 human ensembl 69_37n +1 known missense c.1767 p.Q589H 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 352 0 0.00 165 19 10.33 - - - CBLN2 0 genome.wustl.edu 37 18 70205948 70205948 + Missense_Mutation SNP T T G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 70205948 70205948 T G SNP CBLN2 ENST00000269503 human ensembl 69_37n -1 known missense c.417 p.R139S 0.931 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 245 0 0.00 132 18 12.00 - - - CCDC135 0 genome.wustl.edu 37 16 57758646 57758646 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 57758646 57758646 C G SNP CCDC135 ENST00000360716 human ensembl 69_37n +1 known missense c.1657 p.Q553E 0.289 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 123 0 0.00 94 24 20.34 - - - CCDC136 0 genome.wustl.edu 37 7 128451956 128451956 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 128451956 128451956 G C SNP CCDC136 ENST00000297788 human ensembl 69_37n +1 known missense c.2131 p.E711Q 0.989 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 90 0 0.00 62 9 12.68 - - - CCDC144A 0 genome.wustl.edu 37 17 16612420 16612420 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 16612420 16612420 C G SNP CCDC144A ENST00000360524 human ensembl 69_37n +1 known missense c.1049 p.S350C 0.001 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 295 0 0.00 106 37 25.87 - - - CCDC144A 0 genome.wustl.edu 37 17 16638898 16638898 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 16638898 16638898 G A SNP CCDC144A ENST00000360524 human ensembl 69_37n +1 known missense c.3313 p.E1105K 0.541 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 22 0 0.00 8 5 38.46 - - - CCDC17 0 genome.wustl.edu 37 1 46087134 46087134 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 46087134 46087134 C G SNP CCDC17 ENST00000343901 human ensembl 69_37n -1 known missense c.1111 p.D371H 1.000 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 85 0 0.00 55 10 15.15 - - - CCDC18 0 genome.wustl.edu 37 1 93711671 93711671 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 93711671 93711671 G C SNP CCDC18 ENST00000557479 human ensembl 69_37n +1 known missense c.3345 p.K1115N 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 176 0 0.00 69 9 11.54 - - - CCDC40 0 genome.wustl.edu 37 17 78059891 78059891 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 78059891 78059891 G A SNP CCDC40 ENST00000397545 human ensembl 69_37n +1 known silent c.2325 p.V775 0.492 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 74 0 0.00 37 5 11.90 - - - CCDC41 0 genome.wustl.edu 37 12 94727325 94727325 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 94727325 94727325 C G SNP CCDC41 ENST00000339839 human ensembl 69_37n -1 known missense c.1510 p.E504Q 1.000 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 456 0 0.00 269 32 10.63 - - - CCNE1 0 genome.wustl.edu 37 19 30311662 30311662 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 30311662 30311662 C G SNP CCNE1 ENST00000262643 human ensembl 69_37n +1 known missense c.516 p.F172L 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 194 0 0.00 123 19 13.38 - - - CCT6P1 0 genome.wustl.edu 37 7 65220800 65220800 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 65220800 65220800 G A SNP CCT6P1 ENST00000442266 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors CCT6P1 HGNC ENSG00000228409 198 0 0.00 104 14 11.86 - - - CCT6P1 0 genome.wustl.edu 37 7 65220808 65220808 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 65220808 65220808 G A SNP CCT6P1 ENST00000442266 human ensembl 69_37n +1 known rna NULL NULL 0.973 - - - no_errors CCT6P1 HGNC ENSG00000228409 192 0 0.00 103 13 11.21 - - - CD151 0 genome.wustl.edu 37 11 838147 838147 + Silent SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 838147 838147 C A SNP CD151 ENST00000322008 human ensembl 69_37n +1 known silent c.717 p.I239 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD151 HGNC ENSG00000177697 181 0 0.00 88 12 12.00 - - - CD86 0 genome.wustl.edu 37 3 121825137 121825137 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 121825137 121825137 G A SNP CD86 ENST00000330540 human ensembl 69_37n +1 known missense c.493 p.E165K 0.832 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD86 HGNC ENSG00000114013 146 0 0.00 84 11 11.58 - - - CDC14A 0 genome.wustl.edu 37 1 100928262 100928262 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 100928262 100928262 G A SNP CDC14A ENST00000361544 human ensembl 69_37n +1 known silent c.663 p.V221 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat 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,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 160 0 0.00 82 13 13.54 - - - CDC42BPA 0 genome.wustl.edu 37 1 227219069 227219069 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 227219069 227219069 G C SNP CDC42BPA ENST00000442054 human ensembl 69_37n -1 known missense c.1585 p.L529V 1.000 NULL pfam_Citron,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_WD40_repeat_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CDC42BPA HGNC ENSG00000143776 304 0 0.00 175 21 10.71 - - - CDC6 0 genome.wustl.edu 37 17 38457243 38457243 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 38457243 38457243 G A SNP CDC6 ENST00000209728 human ensembl 69_37n +1 known silent c.1413 p.L471 0.998 pfam_Cdc6_C_dom,pirsf_Cell_div_Cdc6 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6 - no_errors CDC6 HGNC ENSG00000094804 131 0 0.00 58 13 18.31 - - - CEACAM21 0 genome.wustl.edu 37 19 42083792 42083792 + Nonsense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 42083792 42083792 C G SNP CEACAM21 ENST00000401445 human ensembl 69_37n +1 known nonsense c.305 p.S102* 0.003 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM21 HGNC ENSG00000007129 133 0 0.00 83 10 10.75 - - - CELF2 0 genome.wustl.edu 37 10 11207576 11207576 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 11207576 11207576 G C SNP CELF2 ENST00000450189 human ensembl 69_37n +1 known missense c.202 p.E68Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 76 0 0.00 39 7 15.22 - - - CELSR1 0 genome.wustl.edu 37 22 46859955 46859955 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 22 46859955 46859955 C G SNP CELSR1 ENST00000262738 human ensembl 69_37n -1 known missense c.3832 p.E1278Q 1.000 NULL 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 CELSR1 HGNC ENSG00000075275 62 0 0.00 36 6 14.29 - - - CENPI 0 genome.wustl.edu 37 X 100382503 100382503 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 100382503 100382503 C T SNP CENPI ENST00000372927 human ensembl 69_37n +1 known missense c.923 p.S308L 0.576 pfam_Centromere_CenpI pfam_Centromere_CenpI - no_errors CENPI HGNC ENSG00000102384 138 0 0.00 76 10 11.63 - - - CENPI 0 genome.wustl.edu 37 X 100403010 100403010 + Missense_Mutation SNP T T C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 100403010 100403010 T C SNP CENPI ENST00000372927 human ensembl 69_37n +1 known missense c.1954 p.W652R 1.000 NULL pfam_Centromere_CenpI - no_errors CENPI HGNC ENSG00000102384 293 0 0.00 134 24 15.19 - - - CEP350 0 genome.wustl.edu 37 1 179989993 179989993 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 179989993 179989993 C G SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.3084 p.I1028M 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 33 0 0.00 18 3 14.29 - - - CFHR2 0 genome.wustl.edu 37 1 196920050 196920050 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 196920050 196920050 G A SNP CFHR2 ENST00000367415 human ensembl 69_37n +1 known missense c.322 p.D108N 0.485 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 CFHR2 HGNC ENSG00000080910 444 0 0.00 245 33 11.87 - - - CHD5 0 genome.wustl.edu 37 1 6172237 6172237 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 6172237 6172237 G C SNP CHD5 ENST00000262450 human ensembl 69_37n -1 known missense c.5103 p.F1701L 0.983 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,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 CHD5 HGNC ENSG00000116254 272 0 0.00 138 57 29.23 - - - CHD8 0 genome.wustl.edu 37 14 21876692 21876692 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 21876692 21876692 C T SNP CHD8 ENST00000399982 human ensembl 69_37n -1 known missense c.2509 p.E837K 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 97 0 0.00 57 8 12.31 - - - CHD9 0 genome.wustl.edu 37 16 53348816 53348816 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 53348816 53348816 G C SNP CHD9 ENST00000398510 human ensembl 69_37n +1 known missense c.7444 p.D2482H 0.999 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 179 0 0.00 91 19 17.27 - - - CHI3L1 0 genome.wustl.edu 37 1 203154338 203154338 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 203154338 203154338 G A SNP CHI3L1 ENST00000255409 human ensembl 69_37n -1 known silent c.231 p.Y77 0.027 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 98 0 0.00 79 20 20.20 - - - CIB2 0 genome.wustl.edu 37 15 78401629 78401629 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 78401629 78401629 G A SNP CIB2 ENST00000557917 human ensembl 69_37n -1 known missense c.182 p.S61F 1.000 NULL NULL - no_errors CIB2 HGNC ENSG00000136425 237 0 0.00 91 17 15.74 - - - CIITA 0 genome.wustl.edu 37 16 11000484 11000484 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 11000484 11000484 G A SNP CIITA ENST00000324288 human ensembl 69_37n +1 known missense c.1135 p.E379K 0.999 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 31 0 0.00 27 6 18.18 - - - CLCNKA 0 genome.wustl.edu 37 1 16355791 16355791 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 16355791 16355791 G C SNP CLCNKA ENST00000331433 human ensembl 69_37n +1 known missense c.1224 p.M408I 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 162 0 0.00 79 31 28.18 - - - CLCNKA 0 genome.wustl.edu 37 1 16356261 16356261 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 16356261 16356261 G C SNP CLCNKA ENST00000331433 human ensembl 69_37n +1 known missense c.1263 p.M421I 0.550 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 592 0 0.00 289 115 28.40 - - - CLDND1 0 genome.wustl.edu 37 3 98237836 98237836 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 98237836 98237836 G A SNP CLDND1 ENST00000437922 human ensembl 69_37n -1 known missense c.365 p.S122L 1.000 NULL pfam_PMP22/EMP/MP20/Claudin - no_errors CLDND1 HGNC ENSG00000080822 147 0 0.00 71 13 15.48 - - - CLIC2 0 genome.wustl.edu 37 X 154528132 154528132 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 154528132 154528132 C G SNP CLIC2 ENST00000369449 human ensembl 69_37n -1 known missense c.259 p.E87Q 1.000 superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC2 HGNC ENSG00000155962 312 0 0.00 144 23 13.77 - - - CLIC5 0 genome.wustl.edu 37 6 45917119 45917119 + Splice_Site SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 45917119 45917119 C T SNP CLIC5 ENST00000185206 human ensembl 69_37n -1 known splice_site c.651-1 e3-1 1.000 - - - no_errors CLIC5 HGNC ENSG00000112782 286 0 0.00 162 35 17.77 - - - CLIP1 0 genome.wustl.edu 37 12 122817576 122817576 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 122817576 122817576 G A SNP CLIP1 ENST00000540338 human ensembl 69_37n -1 known missense c.2825 p.S942F 1.000 superfamily_Prefoldin pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 588 0 0.00 278 77 21.69 - - - CMTM5 0 genome.wustl.edu 37 14 23847569 23847569 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 23847569 23847569 C T SNP CMTM5 ENST00000339180 human ensembl 69_37n +1 known silent c.138 p.L46 1.000 NULL NULL - no_errors CMTM5 HGNC ENSG00000166091 282 0 0.00 155 21 11.93 - - - CMTM5 0 genome.wustl.edu 37 14 23847601 23847601 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 23847601 23847601 C T SNP CMTM5 ENST00000339180 human ensembl 69_37n +1 known missense c.170 p.S57F 1.000 NULL NULL - no_errors CMTM5 HGNC ENSG00000166091 353 1 0.28 232 28 10.77 - - - CNOT1 0 genome.wustl.edu 37 16 58555118 58555118 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 58555118 58555118 C G SNP CNOT1 ENST00000317147 human ensembl 69_37n -1 known missense c.7021 p.E2341Q 1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 204 0 0.00 133 17 11.33 - - - CNOT3 0 genome.wustl.edu 37 19 54656363 54656363 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 54656363 54656363 G A SNP CNOT3 ENST00000221232 human ensembl 69_37n +1 known missense c.1904 p.R635Q 1.000 pfam_NOT,pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 29 0 0.00 29 6 16.67 - - - CNTN1 0 genome.wustl.edu 37 12 41414189 41414189 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 41414189 41414189 G C SNP CNTN1 ENST00000347616 human ensembl 69_37n +1 known missense c.2470 p.E824Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 129 0 0.00 58 8 12.12 - - - CNTNAP3 0 genome.wustl.edu 37 9 39103750 39103750 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 39103750 39103750 C G SNP CNTNAP3 ENST00000297668 human ensembl 69_37n -1 known missense c.2527 p.E843Q 0.998 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_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 136 0 0.00 91 14 13.33 - - - CNTRL 0 genome.wustl.edu 37 9 123875860 123875860 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 123875860 123875860 G C SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known missense c.1203 p.E401D 0.997 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 100 0 0.00 52 6 10.34 - - - CNTROB 0 genome.wustl.edu 37 17 7851863 7851863 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 7851863 7851863 C G SNP CNTROB ENST00000380262 human ensembl 69_37n +1 known silent c.2439 p.L813 0.014 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 286 0 0.00 113 13 10.24 - - - COG3 0 genome.wustl.edu 37 13 46055380 46055380 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 46055380 46055380 C G SNP COG3 ENST00000349995 human ensembl 69_37n +1 known missense c.565 p.L189V 1.000 pfam_COG_su3 pfam_COG_su3,superfamily_Cullin_repeat-like_dom - no_errors COG3 HGNC ENSG00000136152 106 0 0.00 41 5 10.87 - - - COL19A1 0 genome.wustl.edu 37 6 70852698 70852698 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 70852698 70852698 C A SNP COL19A1 ENST00000322773 human ensembl 69_37n +1 known missense c.1612 p.P538T 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 252 0 0.00 128 18 12.16 - - - COPG2 0 genome.wustl.edu 37 7 130146586 130146586 + Nonstop_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 130146586 130146586 C G SNP COPG2 ENST00000425248 human ensembl 69_37n -1 known nonstop c.398 p.*133S 0.995 pfam_Coatomer_gsu_app,superfamily_Coatomer/calthrin_app_sub_C pfam_Coatomer_gsu_app,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like - pseudogene:no_stop_codon:bad_bp_length_for_coding_region COPG2 HGNC ENSG00000158623 197 0 0.00 125 27 17.76 - - - CORIN 0 genome.wustl.edu 37 4 47676480 47676480 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 47676480 47676480 G C SNP CORIN ENST00000273857 human ensembl 69_37n -1 known silent c.1287 p.L429 0.971 pirsf_Peptidase_S1A_corin pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC ENSG00000145244 329 0 0.00 190 31 13.96 - - - COX17 0 genome.wustl.edu 37 3 119396138 119396138 + Nonsense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 119396138 119396138 G C SNP COX17 ENST00000261070 human ensembl 69_37n -1 known nonsense c.20 p.S7* 0.640 superfamily_MTCP1 pfam_Cyt_c_oxidase_Cu-chaperone,superfamily_MTCP1 - no_errors COX17 HGNC ENSG00000138495 34 0 0.00 32 5 13.51 - - - COX7A2 0 genome.wustl.edu 37 6 75947696 75947696 + Missense_Mutation SNP A A G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 75947696 75947696 A G SNP COX7A2 ENST00000370081 human ensembl 69_37n -1 known missense c.298 p.Y100H 0.996 pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a - no_errors COX7A2 HGNC ENSG00000112695 72 0 0.00 34 5 12.82 - - - CP 0 genome.wustl.edu 37 3 148930334 148930334 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 148930334 148930334 C T SNP CP ENST00000264613 human ensembl 69_37n -1 known missense c.298 p.E100K 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 261 0 0.00 153 21 12.07 - - - CPED1 0 genome.wustl.edu 37 7 120767165 120767165 + Nonsense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 120767165 120767165 C T SNP CPED1 ENST00000310396 human ensembl 69_37n +1 known nonsense c.1156 p.Q386* 1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 209 0 0.00 93 11 10.58 - - - CPT1C 0 genome.wustl.edu 37 19 50209591 50209591 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 50209591 50209591 G A SNP CPT1C ENST00000323446 human ensembl 69_37n +1 known missense c.1264 p.A422T 0.343 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 26 0 0.00 23 4 14.81 - - - CRAMP1L 0 genome.wustl.edu 37 16 1724028 1724028 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 1724028 1724028 C T SNP CRAMP1L ENST00000293925 human ensembl 69_37n +1 known silent c.3792 p.V1264 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 73 0 0.00 78 10 11.36 - - - CRNKL1 0 genome.wustl.edu 37 20 20026077 20026077 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 20026077 20026077 C T SNP CRNKL1 ENST00000377340 human ensembl 69_37n -1 known missense c.1159 p.E387K 1.000 pfam_HAT,smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 262 0 0.00 128 21 14.09 - - - CSMD1 0 genome.wustl.edu 37 8 3253803 3253803 + Missense_Mutation SNP A A T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 3253803 3253803 A T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.2509 p.F837I 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 199 0 0.00 86 24 21.62 - - - CSMD3 0 genome.wustl.edu 37 8 113363470 113363470 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 113363470 113363470 G A SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known missense c.6259 p.H2087Y 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_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 239 0 0.00 157 19 10.80 - - - CSNK1A1 0 genome.wustl.edu 37 5 148889467 148889467 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 148889467 148889467 G C SNP CSNK1A1 ENST00000515768 human ensembl 69_37n -1 known missense c.809 p.S270C 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_cat_dom - no_errors CSNK1A1 HGNC ENSG00000113712 418 0 0.00 176 31 14.98 - - - CST8 0 genome.wustl.edu 37 20 23473604 23473604 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 23473604 23473604 C G SNP CST8 ENST00000246012 human ensembl 69_37n +1 known missense c.241 p.L81V 0.010 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST8 HGNC ENSG00000125815 117 0 0.00 60 7 10.45 - - - CTGF 0 genome.wustl.edu 37 6 132270547 132270547 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 132270547 132270547 C A SNP CTGF ENST00000367976 human ensembl 69_37n -1 known missense c.907 p.V303L 0.992 pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CTGF HGNC ENSG00000118523 158 0 0.00 101 14 12.07 - - - CTSL1 0 genome.wustl.edu 37 9 90345976 90345976 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 90345976 90345976 G A SNP CTSL1 ENST00000340342 human ensembl 69_37n +1 known missense c.956 p.R319K 0.015 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL1 HGNC ENSG00000135047 193 0 0.00 127 21 14.19 - - - CUBN 0 genome.wustl.edu 37 10 16957164 16957164 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 16957164 16957164 G C SNP CUBN ENST00000377833 human ensembl 69_37n -1 known missense c.7218 p.I2406M 0.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 115 0 0.00 44 6 11.76 - - - CUL3 0 genome.wustl.edu 37 2 225378295 225378295 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 225378295 225378295 G A SNP CUL3 ENST00000264414 human ensembl 69_37n -1 known silent c.600 p.V200 0.997 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 142 0 0.00 58 7 10.77 - - - CXCR2P1 0 genome.wustl.edu 37 2 218925065 218925065 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 218925065 218925065 G C SNP CXCR2P1 ENST00000439871 human ensembl 69_37n -1 known rna NULL NULL 0.869 - - - no_errors CXCR2P1 HGNC ENSG00000229754 110 0 0.00 51 9 15.00 - - - CYC1 0 genome.wustl.edu 37 8 145151386 145151386 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 145151386 145151386 C T SNP CYC1 ENST00000318911 human ensembl 69_37n +1 known silent c.600 p.I200 1.000 pfam_Cyt_c1,superfamily_Cyt_c_dom,prints_Cyt_c1 pfam_Cyt_c1,superfamily_Cyt_c_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 195 0 0.00 135 21 13.46 - - - CYP11B1 0 genome.wustl.edu 37 8 143958176 143958176 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 143958176 143958176 G A SNP CYP11B1 ENST00000292427 human ensembl 69_37n -1 known missense c.721 p.P241S 0.972 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 106 0 0.00 91 11 10.68 - - - CYP4A11 0 genome.wustl.edu 37 1 47403000 47403000 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 47403000 47403000 G A SNP CYP4A11 ENST00000371904 human ensembl 69_37n -1 known missense c.356 p.S119F 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 411 0 0.00 207 56 21.21 - - - CYP4F2 0 genome.wustl.edu 37 19 16003212 16003212 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 16003212 16003212 C G SNP CYP4F2 ENST00000221700 human ensembl 69_37n -1 known missense c.432 p.W144C 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II 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 CYP4F2 HGNC ENSG00000186115 229 0 0.00 129 21 14.00 - - - DAP3 0 genome.wustl.edu 37 1 155706571 155706571 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 155706571 155706571 G C SNP DAP3 ENST00000476444 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors DAP3 HGNC ENSG00000132676 39 0 0.00 20 4 16.67 - - - DBNDD2 0 genome.wustl.edu 37 20 44037637 44037637 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 44037637 44037637 C G SNP DBNDD2 ENST00000443296 human ensembl 69_37n +1 putative missense c.515 p.S172C 0.065 NULL pfam_Dysbindin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DBNDD2 HGNC ENSG00000244274 112 0 0.00 81 14 14.74 - - - DBT 0 genome.wustl.edu 37 1 100661894 100661894 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 100661894 100661894 C T SNP DBT ENST00000370132 human ensembl 69_37n -1 known missense c.1366 p.D456N 1.000 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 291 0 0.00 163 19 10.38 - - - DEK 0 genome.wustl.edu 37 6 18264149 18264149 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 18264149 18264149 C T SNP DEK ENST00000397239 human ensembl 69_37n -1 known missense c.70 p.E24K 0.237 NULL pfam_DEK_C,pfam_SAP_DNA-bd,smart_SAP_DNA-bd - no_errors DEK HGNC ENSG00000124795 83 0 0.00 77 13 14.44 - - - DENND4C 0 genome.wustl.edu 37 9 19346788 19346788 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 19346788 19346788 G A SNP DENND4C ENST00000380437 human ensembl 69_37n +1 known missense c.3166 p.E1056K 0.103 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 92 0 0.00 61 8 11.59 - - - DENND5A 0 genome.wustl.edu 37 11 9161334 9161334 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 9161334 9161334 C G SNP DENND5A ENST00000328194 human ensembl 69_37n -1 known missense c.3748 p.D1250H 1.000 pfam_Run,smart_Run,pfscan_Run 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 173 0 0.00 84 11 11.58 - - - DHDDS 0 genome.wustl.edu 37 1 26795577 26795577 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 26795577 26795577 C G SNP DHDDS ENST00000360009 human ensembl 69_37n +1 known silent c.960 p.L320 1.000 NULL pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like - no_errors DHDDS HGNC ENSG00000117682 23 0 0.00 11 5 31.25 - - - DHRS12 0 genome.wustl.edu 37 13 52348157 52348157 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 52348157 52348157 G A SNP DHRS12 ENST00000444610 human ensembl 69_37n -1 known missense c.524 p.S175L 0.919 pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DHRS12 HGNC ENSG00000102796 226 0 0.00 133 18 11.92 - - - DIABLO 0 genome.wustl.edu 37 12 122693103 122693103 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 122693103 122693103 G T SNP DIABLO ENST00000443649 human ensembl 69_37n -1 known missense c.545 p.T182N 0.107 pfam_Smac_DIABLO,superfamily_Smac_DIABLO-like pfam_Smac_DIABLO,superfamily_Smac_DIABLO-like - no_errors DIABLO HGNC ENSG00000184047 161 0 0.00 87 19 17.92 - - - DISP1 0 genome.wustl.edu 37 1 223177017 223177017 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 223177017 223177017 C A SNP DISP1 ENST00000284476 human ensembl 69_37n +1 known missense c.2278 p.P760T 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 140 0 0.00 82 14 14.58 - - - DLG1 0 genome.wustl.edu 37 3 196771505 196771505 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 196771505 196771505 C G SNP DLG1 ENST00000346964 human ensembl 69_37n -1 known missense c.2770 p.E924Q 1.000 pirsf_M-assoc_guanylate_kinase pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC ENSG00000075711 284 0 0.00 148 32 17.78 - - - DNAH9 0 genome.wustl.edu 37 17 11514971 11514971 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 11514971 11514971 G A SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.778 p.E260K 0.995 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 165 0 0.00 74 10 11.90 - - - DNAH9 0 genome.wustl.edu 37 17 11520928 11520928 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 11520928 11520928 C G SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.1105 p.L369V 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 41 0 0.00 20 4 16.67 - - - DNAJB9 0 genome.wustl.edu 37 7 108213604 108213604 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 108213604 108213604 C G SNP DNAJB9 ENST00000249356 human ensembl 69_37n +1 known missense c.479 p.S160C 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB9 HGNC ENSG00000128590 401 0 0.00 289 39 11.89 - - - DNAJC11 0 genome.wustl.edu 37 1 6738481 6738481 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 6738481 6738481 C T SNP DNAJC11 ENST00000377577 human ensembl 69_37n -1 known silent c.249 p.K83 1.000 superfamily_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC11 HGNC ENSG00000007923 314 0 0.00 157 43 21.50 - - - DNTTIP2 0 genome.wustl.edu 37 1 94343226 94343226 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 94343226 94343226 C T SNP DNTTIP2 ENST00000436063 human ensembl 69_37n -1 known missense c.265 p.E89K 1.000 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 291 0 0.00 151 30 16.57 - - - DRAXIN 0 genome.wustl.edu 37 1 11769376 11769376 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 11769376 11769376 G A SNP DRAXIN ENST00000294485 human ensembl 69_37n +1 known missense c.496 p.E166K 0.002 NULL NULL - no_errors DRAXIN HGNC ENSG00000162490 79 0 0.00 49 7 12.50 - - - DSC2 0 genome.wustl.edu 37 18 28669404 28669404 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 28669404 28669404 C T SNP DSC2 ENST00000280904 human ensembl 69_37n -1 known missense c.628 p.E210K 0.991 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin - no_errors DSC2 HGNC ENSG00000134755 141 0 0.00 61 10 14.08 - - - DSC2 0 genome.wustl.edu 37 18 28669422 28669422 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 28669422 28669422 C T SNP DSC2 ENST00000280904 human ensembl 69_37n -1 known missense c.610 p.E204K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin - no_errors DSC2 HGNC ENSG00000134755 182 0 0.00 73 11 13.10 - - - DSN1 0 genome.wustl.edu 37 20 35399512 35399512 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 35399512 35399512 G A SNP DSN1 ENST00000373745 human ensembl 69_37n -1 known missense c.119 p.A40V 0.992 NULL pfam_Mtw1_DSN1 - no_errors DSN1 HGNC ENSG00000149636 123 0 0.00 74 9 10.84 - - - DST 0 genome.wustl.edu 37 6 56468735 56468735 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 56468735 56468735 C G SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.10592 p.R3531T 0.002 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 216 0 0.00 87 17 16.35 - - - DYNC2H1 0 genome.wustl.edu 37 11 103019265 103019265 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 103019265 103019265 C G SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known silent c.2865 p.V955 0.682 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 325 0 0.00 141 25 15.06 - - - E2F4 0 genome.wustl.edu 37 16 67228757 67228757 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 67228757 67228757 C G SNP E2F4 ENST00000379378 human ensembl 69_37n +1 known missense c.682 p.L228V 0.862 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 224 0 0.00 119 17 12.41 - - - EBAG9 0 genome.wustl.edu 37 8 110563122 110563122 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 110563122 110563122 G A SNP EBAG9 ENST00000337573 human ensembl 69_37n +1 known silent c.69 p.K23 1.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 303 0 0.00 214 29 11.93 - - - EDA 0 genome.wustl.edu 37 X 69177016 69177016 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 69177016 69177016 G A SNP EDA ENST00000502251 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors EDA HGNC ENSG00000158813 213 0 0.00 86 11 11.34 - - - EEPD1 0 genome.wustl.edu 37 7 36194661 36194661 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 36194661 36194661 C G SNP EEPD1 ENST00000242108 human ensembl 69_37n +1 known missense c.728 p.S243C 1.000 NULL pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 55 0 0.00 30 20 40.00 - - - EFCAB12 0 genome.wustl.edu 37 3 129134099 129134099 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 129134099 129134099 G C SNP EFCAB12 ENST00000326085 human ensembl 69_37n -1 known missense c.827 p.T276S 0.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB12 HGNC ENSG00000172771 173 0 0.00 102 13 11.30 - - - EFCAB6 0 genome.wustl.edu 37 22 44011765 44011765 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 22 44011765 44011765 C G SNP EFCAB6 ENST00000262726 human ensembl 69_37n -1 known missense c.2503 p.E835Q 0.995 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 270 0 0.00 118 15 11.28 - - - EFCAB9 0 genome.wustl.edu 37 5 171626397 171626397 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 171626397 171626397 C G SNP EFCAB9 ENST00000398186 human ensembl 69_37n +1 known missense c.147 p.F49L 0.995 NULL pfscan_EF_HAND_2 - no_errors EFCAB9 HGNC ENSG00000214360 143 0 0.00 55 26 32.10 - - - EFHC2 0 genome.wustl.edu 37 X 44094563 44094563 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 44094563 44094563 C G SNP EFHC2 ENST00000333807 human ensembl 69_37n -1 known missense c.1411 p.E471Q 0.001 pfam_DUF1126,smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC2 HGNC ENSG00000183690 167 0 0.00 82 13 13.68 - - - EFNB3 0 genome.wustl.edu 37 17 7611466 7611466 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 7611466 7611466 G A SNP EFNB3 ENST00000226091 human ensembl 69_37n +1 known missense c.313 p.D105N 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 32 0 0.00 13 5 27.78 - - - EI24 0 genome.wustl.edu 37 11 125448876 125448876 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 125448876 125448876 G A SNP EI24 ENST00000278903 human ensembl 69_37n +1 known missense c.473 p.G158E 1.000 NULL NULL - no_errors EI24 HGNC ENSG00000149547 258 0 0.00 134 20 12.99 - - - EIF2B5 0 genome.wustl.edu 37 3 183855691 183855691 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 183855691 183855691 G C SNP EIF2B5 ENST00000273783 human ensembl 69_37n +1 known missense c.512 p.R171T 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 104 0 0.00 56 9 13.85 - - - ELTD1 0 genome.wustl.edu 37 1 79472337 79472337 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 79472337 79472337 C T SNP ELTD1 ENST00000370742 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 97 0 0.00 49 11 18.33 - - - EML5 0 genome.wustl.edu 37 14 89210436 89210436 + Splice_Site SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 89210436 89210436 C T SNP EML5 ENST00000554922 human ensembl 69_37n -1 known splice_site c.457-1 e4-1 1.000 - - - no_errors EML5 HGNC ENSG00000165521 127 0 0.00 75 14 15.73 - - - EML6 0 genome.wustl.edu 37 2 55143898 55143898 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 55143898 55143898 C G SNP EML6 ENST00000356458 human ensembl 69_37n +1 novel missense c.3501 p.I1167M 0.731 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 95 0 0.00 63 10 13.70 - - - ENG 0 genome.wustl.edu 37 9 130577980 130577980 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 130577980 130577980 G A SNP ENG ENST00000373203 human ensembl 69_37n -1 known missense c.1958 p.S653F 1.000 NULL pfam_Zona_pellucida_Endoglin/CD105 - no_errors ENG HGNC ENSG00000106991 41 0 0.00 31 4 11.43 - - - ENSG00000261884 0 genome.wustl.edu 37 16 67969495 67969495 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 67969495 67969495 G A SNP ENSG00000261884 ENST00000573493 human ensembl 69_37n -1 known missense c.50 p.S17L 0.974 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CTC-479C5.12 Clone_based_vega_gene ENSG00000261884 94 0 0.00 66 15 18.52 - - - ENTHD1 0 genome.wustl.edu 37 22 40139707 40139707 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 22 40139707 40139707 C T SNP ENTHD1 ENST00000325157 human ensembl 69_37n -1 known missense c.1801 p.E601K 0.000 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 128 0 0.00 76 9 10.59 - - - EPDR1 0 genome.wustl.edu 37 7 37960252 37960252 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 37960252 37960252 G T SNP EPDR1 ENST00000559325 human ensembl 69_37n +1 known missense c.71 p.R24L 0.004 NULL pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 52 0 0.00 33 6 15.38 - - - EPG5 0 genome.wustl.edu 37 18 43437926 43437926 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 43437926 43437926 C G SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known missense c.7334 p.R2445P 0.986 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 105 0 0.00 47 19 28.79 - - - EPHB6 0 genome.wustl.edu 37 7 142563760 142563760 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 142563760 142563760 C T SNP EPHB6 ENST00000392957 human ensembl 69_37n +1 known missense c.1148 p.S383L 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB6 HGNC ENSG00000106123 44 0 0.00 39 5 11.36 - - - EPHB6 0 genome.wustl.edu 37 7 142568301 142568301 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 142568301 142568301 G A SNP EPHB6 ENST00000392957 human ensembl 69_37n +1 known silent c.2820 p.L940 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB6 HGNC ENSG00000106123 105 0 0.00 88 12 12.00 - - - EPHX4 0 genome.wustl.edu 37 1 92515873 92515873 + Splice_Site SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 92515873 92515873 G A SNP EPHX4 ENST00000370383 human ensembl 69_37n +1 known splice_site c.605-1 e5-1 1.000 - - - no_errors EPHX4 HGNC ENSG00000172031 167 0 0.00 88 11 11.00 - - - ERCC6 0 genome.wustl.edu 37 10 50732269 50732269 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 50732269 50732269 C T SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known missense c.1207 p.E403K 0.045 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 187 0 0.00 77 10 11.49 - - - ERCC6L 0 genome.wustl.edu 37 X 71428542 71428542 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 71428542 71428542 C T SNP ERCC6L ENST00000334463 human ensembl 69_37n -1 known silent c.75 p.V25 0.990 pfscan_TPR-contain_dom pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 259 0 0.00 139 18 11.39 - - - ERP27 0 genome.wustl.edu 37 12 15087835 15087835 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 15087835 15087835 C T SNP ERP27 ENST00000266397 human ensembl 69_37n -1 known silent c.288 p.L96 0.235 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC ENSG00000139055 154 0 0.00 89 14 13.59 - - - ERV3-1 0 genome.wustl.edu 37 7 64452642 64452642 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 64452642 64452642 C T SNP ERV3-1 ENST00000394323 human ensembl 69_37n -1 known missense c.763 p.E255K 0.857 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 102 0 0.00 62 9 12.68 - - - ESR1 0 genome.wustl.edu 37 6 152419880 152419880 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 152419880 152419880 G C SNP ESR1 ENST00000206249 human ensembl 69_37n +1 known missense c.1567 p.E523Q 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Str_hrmn_rcpt pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 215 0 0.00 131 21 13.82 - - - EVC2 0 genome.wustl.edu 37 4 5630358 5630358 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 5630358 5630358 G A SNP EVC2 ENST00000344408 human ensembl 69_37n -1 known missense c.1814 p.S605L 0.010 pfam_EVC2-like pfam_EVC2-like - no_errors EVC2 HGNC ENSG00000173040 159 0 0.00 96 14 12.73 - - - EVC2 0 genome.wustl.edu 37 4 5667277 5667277 + Nonsense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 5667277 5667277 G A SNP EVC2 ENST00000344408 human ensembl 69_37n -1 known nonsense c.970 p.Q324* 0.000 pfam_EVC2-like pfam_EVC2-like - no_errors EVC2 HGNC ENSG00000173040 160 0 0.00 80 13 13.98 - - - EXOC4 0 genome.wustl.edu 37 7 133622768 133622768 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 133622768 133622768 G C SNP EXOC4 ENST00000253861 human ensembl 69_37n +1 known missense c.2152 p.E718Q 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 226 0 0.00 129 26 16.77 - - - EXOC4 0 genome.wustl.edu 37 7 133682259 133682259 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 133682259 133682259 C G SNP EXOC4 ENST00000253861 human ensembl 69_37n +1 known missense c.2221 p.Q741E 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 105 0 0.00 63 8 11.27 - - - EXPH5 0 genome.wustl.edu 37 11 108384453 108384453 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 108384453 108384453 G C SNP EXPH5 ENST00000265843 human ensembl 69_37n -1 known missense c.1781 p.S594C 0.001 NULL superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors EXPH5 HGNC ENSG00000110723 111 0 0.00 43 8 15.69 - - - EXT1 0 genome.wustl.edu 37 8 118811984 118811984 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 118811984 118811984 C T SNP EXT1 ENST00000378204 human ensembl 69_37n -1 known silent c.2208 p.L736 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 134 0 0.00 121 26 17.69 - - - F10 0 genome.wustl.edu 37 13 113803435 113803435 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 113803435 113803435 G A SNP F10 ENST00000375559 human ensembl 69_37n +1 known silent c.1071 p.K357 0.002 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6 - no_errors F10 HGNC ENSG00000126218 34 0 0.00 23 9 28.12 - - - FAAH 0 genome.wustl.edu 37 1 46874946 46874946 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 46874946 46874946 G A SNP FAAH ENST00000489366 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors FAAH HGNC ENSG00000117480 118 0 0.00 67 8 10.53 - - - FAF2 0 genome.wustl.edu 37 5 175875421 175875421 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 175875421 175875421 G C SNP FAF2 ENST00000261942 human ensembl 69_37n +1 known missense c.13 p.E5Q 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX - no_errors FAF2 HGNC ENSG00000113194 44 0 0.00 27 4 12.90 - - - FAH 0 genome.wustl.edu 37 15 80467429 80467429 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 80467429 80467429 G A SNP FAH ENST00000561353 human ensembl 69_37n +1 known missense c.7 p.E3K 0.915 superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FAH HGNC ENSG00000103876 144 1 0.69 62 20 24.39 - - - FAM114A2 0 genome.wustl.edu 37 5 153409138 153409138 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 153409138 153409138 C G SNP FAM114A2 ENST00000351797 human ensembl 69_37n -1 known missense c.406 p.E136Q 0.738 pfam_DUF719 pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 198 0 0.00 79 15 15.96 - - - FAM118B 0 genome.wustl.edu 37 11 126110856 126110856 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 126110856 126110856 G A SNP FAM118B ENST00000533050 human ensembl 69_37n +1 known missense c.256 p.E86K 1.000 NULL NULL - no_errors FAM118B HGNC ENSG00000197798 104 0 0.00 35 5 12.50 - - - FAM149B1 0 genome.wustl.edu 37 10 74934488 74934488 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 74934488 74934488 G C SNP FAM149B1 ENST00000242505 human ensembl 69_37n +1 known missense c.91 p.E31Q 0.998 NULL pfam_DUF3719 - no_errors FAM149B1 HGNC ENSG00000138286 143 0 0.00 80 18 18.37 - - - FAM159B 0 genome.wustl.edu 37 5 63991346 63991346 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 63991346 63991346 G C SNP FAM159B ENST00000389074 human ensembl 69_37n +1 known missense c.204 p.L68F 1.000 NULL NULL - no_errors FAM159B HGNC ENSG00000145642 361 0 0.00 179 21 10.50 - - - FAM160A2 0 genome.wustl.edu 37 11 6244989 6244989 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 6244989 6244989 G C SNP FAM160A2 ENST00000265978 human ensembl 69_37n -1 known missense c.628 p.L210V 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 55 0 0.00 28 4 12.50 - - - FAM184B 0 genome.wustl.edu 37 4 17654468 17654468 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 17654468 17654468 G C SNP FAM184B ENST00000265018 human ensembl 69_37n -1 known missense c.2176 p.Q726E 1.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 247 0 0.00 146 19 11.52 - - - FAM184B 0 genome.wustl.edu 37 4 17782862 17782862 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 17782862 17782862 C G SNP FAM184B ENST00000265018 human ensembl 69_37n -1 known missense c.61 p.D21H 0.010 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 78 0 0.00 55 8 12.70 - - - FAM194B 0 genome.wustl.edu 37 13 46154110 46154110 + Splice_Site SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 46154110 46154110 C G SNP FAM194B ENST00000298738 human ensembl 69_37n -1 known splice_site c.920-1 e5-1 0.298 - - - no_errors FAM194B HGNC ENSG00000165837 214 0 0.00 105 19 15.32 - - - FAM199X 0 genome.wustl.edu 37 X 103420342 103420342 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 103420342 103420342 C T SNP FAM199X ENST00000493442 human ensembl 69_37n +1 known missense c.236 p.S79L 1.000 NULL NULL - no_errors FAM199X HGNC ENSG00000123575 462 0 0.00 188 37 16.44 - - - FAM212A 0 genome.wustl.edu 37 3 49840825 49840825 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 49840825 49840825 C A SNP FAM212A ENST00000333323 human ensembl 69_37n +1 known missense c.6 p.D2E 0.565 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 70 0 0.00 26 6 18.75 - - - FAM59B 0 genome.wustl.edu 37 2 26399224 26399224 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 26399224 26399224 G A SNP FAM59B ENST00000401533 human ensembl 69_37n +1 known missense c.124 p.E42K 1.000 NULL superfamily_SAM/pointed - no_errors FAM59B HGNC ENSG00000157833 71 0 0.00 41 5 10.87 - - - FAM65B 0 genome.wustl.edu 37 6 24818812 24818812 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 24818812 24818812 G C SNP FAM65B ENST00000259698 human ensembl 69_37n -1 known silent c.2973 p.L991 0.007 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 152 0 0.00 112 22 16.42 - - - FAM83A 0 genome.wustl.edu 37 8 124195425 124195425 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 124195425 124195425 C T SNP FAM83A ENST00000318462 human ensembl 69_37n +1 known missense c.329 p.S110L 0.943 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83A HGNC ENSG00000147689 18 0 0.00 13 4 23.53 - - - FAM83D 0 genome.wustl.edu 37 20 37580527 37580527 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 37580527 37580527 C T SNP FAM83D ENST00000217429 human ensembl 69_37n +1 known silent c.1212 p.F404 0.000 NULL pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 66 0 0.00 40 8 16.33 - - - FAP 0 genome.wustl.edu 37 2 163039979 163039979 + Splice_Site SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 163039979 163039979 C G SNP FAP ENST00000188790 human ensembl 69_37n -1 known splice_site c.1815-1 e21-1 1.000 - - - no_errors FAP HGNC ENSG00000078098 166 0 0.00 79 14 15.05 - - - FARS2 0 genome.wustl.edu 37 6 5368981 5368981 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 5368981 5368981 C G SNP FARS2 ENST00000274680 human ensembl 69_37n +1 known missense c.178 p.Q60E 0.939 NULL pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 42 0 0.00 30 4 11.76 - - - FARS2 0 genome.wustl.edu 37 6 5404833 5404833 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 5404833 5404833 C T SNP FARS2 ENST00000274680 human ensembl 69_37n +1 known missense c.671 p.S224F 1.000 pfscan_aa-tRNA-synth_II pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 166 0 0.00 88 10 10.20 - - - FBXO34 0 genome.wustl.edu 37 14 55818482 55818482 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 55818482 55818482 C T SNP FBXO34 ENST00000313833 human ensembl 69_37n +1 known silent c.1374 p.I458 0.979 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC ENSG00000178974 115 0 0.00 75 10 11.76 - - - FCHSD2 0 genome.wustl.edu 37 11 72712106 72712106 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 72712106 72712106 C G SNP FCHSD2 ENST00000409418 human ensembl 69_37n -1 known missense c.316 p.E106Q 1.000 pfam_FCH,smart_FCH pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 191 0 0.00 91 15 14.02 - - - FCRL2 0 genome.wustl.edu 37 1 157737322 157737322 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 157737322 157737322 C T SNP FCRL2 ENST00000469986 human ensembl 69_37n -1 known silent c.102 p.L34 0.000 NULL pfscan_Ig-like - no_errors FCRL2 HGNC ENSG00000132704 87 0 0.00 52 10 16.13 - - - FGFR1OP 0 genome.wustl.edu 37 6 167417805 167417805 + Silent SNP A A G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 167417805 167417805 A G SNP FGFR1OP ENST00000366847 human ensembl 69_37n +1 known silent c.354 p.E118 1.000 pfam_FOP_dimerisation-dom_N pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation - no_errors FGFR1OP HGNC ENSG00000213066 193 0 0.00 102 69 39.88 - - - FGFR2 0 genome.wustl.edu 37 10 123241689 123241689 + Silent SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 123241689 123241689 G T SNP FGFR2 ENST00000369056 human ensembl 69_37n -1 known silent c.2307 p.I769 0.996 pirsf_Tyr_kinase_fibroblast_GF_rcpt pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FGFR2 HGNC ENSG00000066468 199 0 0.00 76 14 15.56 - - - FKBP6 0 genome.wustl.edu 37 7 72755332 72755332 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 72755332 72755332 G C SNP FKBP6 ENST00000252037 human ensembl 69_37n +1 known missense c.844 p.E282Q 0.039 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP6 HGNC ENSG00000077800 231 0 0.00 174 25 12.56 - - - FLVCR2 0 genome.wustl.edu 37 14 76045470 76045470 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 76045470 76045470 C G SNP FLVCR2 ENST00000238667 human ensembl 69_37n +1 known missense c.155 p.S52W 0.078 superfamily_Trimer_LpxA-like pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 262 0 0.00 180 21 10.45 - - - FMO1 0 genome.wustl.edu 37 1 171236744 171236744 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 171236744 171236744 G A SNP FMO1 ENST00000354841 human ensembl 69_37n +1 known silent c.195 p.E65 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 271 0 0.00 150 35 18.92 - - - FOXF2 0 genome.wustl.edu 37 6 1390570 1390570 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 1390570 1390570 C T SNP FOXF2 ENST00000259806 human ensembl 69_37n +1 known silent c.388 p.L130 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF2 HGNC ENSG00000137273 44 0 0.00 37 6 13.95 - - - FOXJ3 0 genome.wustl.edu 37 1 42730838 42730838 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 42730838 42730838 G A SNP FOXJ3 ENST00000361346 human ensembl 69_37n -1 known missense c.392 p.S131L 1.000 pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 216 0 0.00 112 19 14.50 - - - FRMD6 0 genome.wustl.edu 37 14 52192580 52192580 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 52192580 52192580 C G SNP FRMD6 ENST00000344768 human ensembl 69_37n +1 known missense c.1576 p.L526V 1.000 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 236 0 0.00 142 18 11.25 - - - FRY 0 genome.wustl.edu 37 13 32786467 32786467 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 32786467 32786467 G A SNP FRY ENST00000380250 human ensembl 69_37n +1 known missense c.4630 p.E1544K 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 223 0 0.00 105 55 34.38 - - - GAB3 0 genome.wustl.edu 37 X 153940944 153940944 + Nonsense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 153940944 153940944 G C SNP GAB3 ENST00000424127 human ensembl 69_37n -1 known nonsense c.629 p.S210* 0.999 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 120 0 0.00 39 11 22.00 - - - GABRA2 0 genome.wustl.edu 37 4 46252416 46252416 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 46252416 46252416 C T SNP GABRA2 ENST00000540012 human ensembl 69_37n -1 known missense c.1280 p.R427K 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 352 0 0.00 168 43 20.38 - - - GCN1L1 0 genome.wustl.edu 37 12 120583088 120583088 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 120583088 120583088 G A SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known missense c.4994 p.S1665L 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 42 0 0.00 20 3 13.04 - - - GDE1 0 genome.wustl.edu 37 16 19528440 19528440 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 19528440 19528440 C A SNP GDE1 ENST00000353258 human ensembl 69_37n -1 known missense c.333 p.M111I 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDE1 HGNC ENSG00000006007 226 0 0.00 141 18 11.25 - - - GDPD1 0 genome.wustl.edu 37 17 57322856 57322856 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 57322856 57322856 G C SNP GDPD1 ENST00000284116 human ensembl 69_37n +1 known missense c.267 p.E89D 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD1 HGNC ENSG00000153982 131 0 0.00 85 10 10.53 - - - GEMIN2 0 genome.wustl.edu 37 14 39583603 39583603 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 39583603 39583603 G C SNP GEMIN2 ENST00000308317 human ensembl 69_37n +1 known missense c.94 p.E32Q 1.000 pirsf_Survival_motor_neuron_Gemin2 pirsf_Survival_motor_neuron_Gemin2 - no_errors GEMIN2 HGNC ENSG00000092208 73 0 0.00 65 9 12.16 - - - GHRHR 0 genome.wustl.edu 37 7 31010784 31010784 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 31010784 31010784 C G SNP GHRHR ENST00000326139 human ensembl 69_37n +1 known missense c.417 p.I139M 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 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_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1 - no_errors GHRHR HGNC ENSG00000106128 434 0 0.00 280 32 10.22 - - - GIF 0 genome.wustl.edu 37 11 59603335 59603335 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 59603335 59603335 C G SNP GIF ENST00000257248 human ensembl 69_37n -1 known missense c.1019 p.G340A 0.336 NULL pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC ENSG00000134812 298 0 0.00 164 25 13.16 - - - GJA10 0 genome.wustl.edu 37 6 90604554 90604554 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 90604554 90604554 C T SNP GJA10 ENST00000369352 human ensembl 69_37n +1 known missense c.367 p.L123F 0.352 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 177 0 0.00 94 13 12.15 - - - GLI1 0 genome.wustl.edu 37 12 57865236 57865236 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 57865236 57865236 C G SNP GLI1 ENST00000228682 human ensembl 69_37n +1 known missense c.2713 p.Q905E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 67 0 0.00 36 8 18.18 - - - GLI2 0 genome.wustl.edu 37 2 121747939 121747939 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 121747939 121747939 C G SNP GLI2 ENST00000361492 human ensembl 69_37n +1 known missense c.4449 p.I1483M 0.990 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 71 0 0.00 47 9 16.07 - - - GLYR1 0 genome.wustl.edu 37 16 4882058 4882058 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 4882058 4882058 C G SNP GLYR1 ENST00000321919 human ensembl 69_37n -1 known missense c.459 p.E153D 0.999 NULL pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC ENSG00000140632 186 0 0.00 122 25 17.01 - - - GOLGB1 0 genome.wustl.edu 37 3 121409645 121409645 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 121409645 121409645 C T SNP GOLGB1 ENST00000340645 human ensembl 69_37n -1 known missense c.8551 p.E2851K 1.000 superfamily_STAT_TF_coiled-coil superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 156 0 0.00 81 9 10.00 - - - GON4L 0 genome.wustl.edu 37 1 155755109 155755109 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 155755109 155755109 G A SNP GON4L ENST00000467009 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GON4L HGNC ENSG00000116580 405 0 0.00 206 53 20.31 - - - GORAB 0 genome.wustl.edu 37 1 170521388 170521388 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 170521388 170521388 G C SNP GORAB ENST00000367763 human ensembl 69_37n +1 known missense c.970 p.E324Q 0.681 NULL pfam_Golgin_RAB6-interacting - no_errors GORAB HGNC ENSG00000120370 151 0 0.00 75 9 10.71 - - - GPR108 0 genome.wustl.edu 37 19 6732521 6732521 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 6732521 6732521 C T SNP GPR108 ENST00000264080 human ensembl 69_37n -1 known missense c.973 p.E325K 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors GPR108 HGNC ENSG00000125734 129 0 0.00 47 12 20.34 - - - GPR112 0 genome.wustl.edu 37 X 135431750 135431750 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 135431750 135431750 G A SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.5885 p.R1962K 0.012 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 170 1 0.58 83 10 10.75 - - - GPR128 0 genome.wustl.edu 37 3 100362199 100362199 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 100362199 100362199 C T SNP GPR128 ENST00000273352 human ensembl 69_37n +1 known missense c.788 p.S263F 0.003 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 298 0 0.00 161 29 15.26 - - - GPR98 0 genome.wustl.edu 37 5 90055367 90055367 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 90055367 90055367 G A SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.12082 p.D4028N 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 537 0 0.00 202 73 26.35 - - - GPSM1 0 genome.wustl.edu 37 9 139232342 139232342 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 139232342 139232342 G A SNP GPSM1 ENST00000440944 human ensembl 69_37n +1 known missense c.742 p.E248K 1.000 pfscan_TPR-contain_dom pfam_GoLoco_motif,pfam_TPR-1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM1 HGNC ENSG00000160360 46 0 0.00 27 10 26.32 - - - GREM2 0 genome.wustl.edu 37 1 240656326 240656326 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 240656326 240656326 C T SNP GREM2 ENST00000318160 human ensembl 69_37n -1 known silent c.450 p.Q150 1.000 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 39 0 0.00 13 5 27.78 - - - GRID2 0 genome.wustl.edu 37 4 94032024 94032024 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 94032024 94032024 G C SNP GRID2 ENST00000282020 human ensembl 69_37n +1 known missense c.655 p.E219Q 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 183 0 0.00 90 13 12.62 - - - GRIK2 0 genome.wustl.edu 37 6 102124653 102124653 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 102124653 102124653 G C SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known missense c.697 p.E233Q 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 157 0 0.00 81 15 15.46 - - - GRIP1 0 genome.wustl.edu 37 12 66909438 66909438 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 66909438 66909438 C G SNP GRIP1 ENST00000359742 human ensembl 69_37n -1 known missense c.685 p.E229Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 214 0 0.00 129 16 11.03 - - - GRIP1 0 genome.wustl.edu 37 12 66932879 66932879 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 66932879 66932879 C T SNP GRIP1 ENST00000359742 human ensembl 69_37n -1 known missense c.397 p.E133K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 272 0 0.00 135 24 15.09 - - - GTF3C1 0 genome.wustl.edu 37 16 27480781 27480781 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 27480781 27480781 C T SNP GTF3C1 ENST00000356183 human ensembl 69_37n -1 known silent c.4905 p.V1635 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 263 0 0.00 123 35 22.15 - - - HADHA 0 genome.wustl.edu 37 2 26437956 26437956 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 26437956 26437956 C G SNP HADHA ENST00000380649 human ensembl 69_37n -1 known missense c.765 p.K255N 1.000 tigrfam_Fa_ox_alpha_mit pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit - no_errors HADHA HGNC ENSG00000084754 455 0 0.00 211 36 14.52 - - - HAO2 0 genome.wustl.edu 37 1 119936427 119936427 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 119936427 119936427 G C SNP HAO2 ENST00000361035 human ensembl 69_37n +1 known missense c.1059 p.E353D 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 331 0 0.00 212 35 14.11 - - - HEATR3 0 genome.wustl.edu 37 16 50102697 50102697 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 50102697 50102697 C T SNP HEATR3 ENST00000299192 human ensembl 69_37n +1 known silent c.318 p.L106 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 444 0 0.00 217 28 11.34 - - - HEATR3 0 genome.wustl.edu 37 16 50120139 50120139 + Nonsense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 50120139 50120139 C T SNP HEATR3 ENST00000299192 human ensembl 69_37n +1 known nonsense c.1387 p.Q463* 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR3 HGNC ENSG00000155393 75 0 0.00 45 6 11.76 - - - HEATR5A 0 genome.wustl.edu 37 14 31778176 31778176 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 31778176 31778176 C G SNP HEATR5A ENST00000389961 human ensembl 69_37n -1 known missense c.4636 p.E1546Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 157 0 0.00 96 11 10.28 - - - HEATR7B2 0 genome.wustl.edu 37 5 41009477 41009477 + Nonsense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 41009477 41009477 C A SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known nonsense c.3325 p.E1109* 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 114 0 0.00 79 22 21.57 - - - HEXB 0 genome.wustl.edu 37 5 74016965 74016965 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 74016965 74016965 C G SNP HEXB ENST00000261416 human ensembl 69_37n +1 known missense c.1636 p.L546V 0.996 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC ENSG00000049860 151 0 0.00 73 12 14.12 - - - HGSNAT 0 genome.wustl.edu 37 8 43054540 43054540 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 43054540 43054540 C G SNP HGSNAT ENST00000458501 human ensembl 69_37n +1 known missense c.1820 p.S607C 0.999 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 97 0 0.00 70 9 11.39 - - - HIST1H2AG 0 genome.wustl.edu 37 6 27100956 27100956 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 27100956 27100956 C A SNP HIST1H2AG ENST00000359193 human ensembl 69_37n +1 known missense c.106 p.R36S 0.996 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AG HGNC ENSG00000196787 87 0 0.00 106 14 11.67 - - - HIST1H4D 0 genome.wustl.edu 37 6 26188994 26188994 + Nonstop_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 26188994 26188994 C A SNP HIST1H4D ENST00000340756 human ensembl 69_37n -1 known nonstop c.311 p.*104L 0.565 NULL pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4D HGNC ENSG00000188987 110 0 0.00 113 22 16.18 - - - HJURP 0 genome.wustl.edu 37 2 234746277 234746277 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 234746277 234746277 C A SNP HJURP ENST00000411486 human ensembl 69_37n -1 known missense c.2193 p.R731S 0.117 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 253 0 0.00 100 12 10.71 - - - HJURP 0 genome.wustl.edu 37 2 234749380 234749380 + Missense_Mutation SNP T T A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 234749380 234749380 T A SNP HJURP ENST00000411486 human ensembl 69_37n -1 known missense c.2046 p.R682S 0.005 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 123 0 0.00 62 11 15.07 - - - HK2 0 genome.wustl.edu 37 2 75104436 75104436 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 75104436 75104436 C T SNP HK2 ENST00000290573 human ensembl 69_37n +1 known missense c.1019 p.S340L 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC ENSG00000159399 138 0 0.00 84 15 15.15 - - - HLCS 0 genome.wustl.edu 37 21 38139574 38139574 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 21 38139574 38139574 C G SNP HLCS ENST00000336648 human ensembl 69_37n -1 known missense c.1464 p.Q488H 0.997 pfam_BPL_LipA_LipB,tigrfam_Biotin_CoA_COase_ligase pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 104 0 0.00 63 10 13.70 - - - HNRNPA2B1 0 genome.wustl.edu 37 7 26236568 26236568 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 26236568 26236568 C G SNP HNRNPA2B1 ENST00000354667 human ensembl 69_37n -1 known missense c.370 p.E124Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 275 0 0.00 160 21 11.60 - - - HNRNPC 0 genome.wustl.edu 37 14 21702335 21702335 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 21702335 21702335 G A SNP HNRNPC ENST00000320084 human ensembl 69_37n -1 known silent c.18 p.T6 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPC HGNC ENSG00000092199 313 0 0.00 197 32 13.97 - - - HNRNPU 0 genome.wustl.edu 37 1 245020071 245020071 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 245020071 245020071 C G SNP HNRNPU ENST00000283179 human ensembl 69_37n -1 known missense c.1702 p.E568Q 1.000 pfam_Zeta_toxin_domain pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPU HGNC ENSG00000153187 133 0 0.00 64 12 15.58 - - - HNRNPUL1 0 genome.wustl.edu 37 19 41798307 41798307 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 41798307 41798307 G A SNP HNRNPUL1 ENST00000392006 human ensembl 69_37n +1 known missense c.1157 p.R386K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPUL1 HGNC ENSG00000105323 209 0 0.00 126 25 16.56 - - - HOOK1 0 genome.wustl.edu 37 1 60302572 60302572 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 60302572 60302572 C T SNP HOOK1 ENST00000371208 human ensembl 69_37n +1 known missense c.502 p.P168S 0.076 pfam_HOOK pfam_HOOK,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 287 0 0.00 146 29 16.57 - - - HOXA2 0 genome.wustl.edu 37 7 27140817 27140817 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 27140817 27140817 G A SNP HOXA2 ENST00000222718 human ensembl 69_37n -1 known missense c.659 p.S220F 0.991 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 153 0 0.00 92 11 10.68 - - - HOXB4 0 genome.wustl.edu 37 17 46655607 46655607 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 46655607 46655607 C A SNP HOXB4 ENST00000332503 human ensembl 69_37n -1 known missense c.75 p.Q25H 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB4 HGNC ENSG00000182742 41 0 0.00 15 3 16.67 - - - HOXB4 0 genome.wustl.edu 37 17 46655621 46655621 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 46655621 46655621 C G SNP HOXB4 ENST00000332503 human ensembl 69_37n -1 known missense c.61 p.E21Q 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB4 HGNC ENSG00000182742 44 0 0.00 20 3 13.04 - - - HPD 0 genome.wustl.edu 37 12 122294313 122294313 + Splice_Site SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 122294313 122294313 C T SNP HPD ENST00000289004 human ensembl 69_37n -1 known splice_site c.242-1 e6-1 1.000 - - - no_errors HPD HGNC ENSG00000158104 241 0 0.00 146 20 12.05 - - - HPS1 0 genome.wustl.edu 37 10 100179913 100179913 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 100179913 100179913 G A SNP HPS1 ENST00000325103 human ensembl 69_37n -1 known silent c.1746 p.V582 0.992 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 105 0 0.00 53 8 13.11 - - - HRH3 0 genome.wustl.edu 37 20 60794791 60794791 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 60794791 60794791 G C SNP HRH3 ENST00000317393 human ensembl 69_37n -1 known missense c.236 p.S79C 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Histamine_H3_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt - no_errors HRH3 HGNC ENSG00000101180 33 0 0.00 35 7 16.67 - - - HSD17B10 0 genome.wustl.edu 37 X 53459270 53459270 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 53459270 53459270 G A SNP HSD17B10 ENST00000168216 human ensembl 69_37n -1 known silent c.282 p.I94 0.994 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect,prints_DHB_DH - no_errors HSD17B10 HGNC ENSG00000072506 252 0 0.00 116 27 18.88 - - - IARS 0 genome.wustl.edu 37 9 95050514 95050514 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 95050514 95050514 C T SNP IARS ENST00000375643 human ensembl 69_37n -1 known missense c.170 p.G57E 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-synt pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS HGNC ENSG00000196305 178 0 0.00 86 16 15.69 - - - IDE 0 genome.wustl.edu 37 10 94239162 94239162 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 94239162 94239162 C G SNP IDE ENST00000265986 human ensembl 69_37n -1 known missense c.1756 p.D586H 1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC ENSG00000119912 219 0 0.00 109 18 14.17 - - - IDS 0 genome.wustl.edu 37 X 148564415 148564415 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 148564415 148564415 G A SNP IDS ENST00000340855 human ensembl 69_37n -1 known silent c.1515 p.F505 0.009 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 138 0 0.00 87 10 10.31 - - - IFIT2 0 genome.wustl.edu 37 10 91066854 91066854 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 91066854 91066854 C A SNP IFIT2 ENST00000371826 human ensembl 69_37n +1 known missense c.1141 p.Q381K 0.995 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 155 0 0.00 88 11 11.11 - - - IFT81 0 genome.wustl.edu 37 12 110581255 110581255 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 110581255 110581255 G C SNP IFT81 ENST00000242591 human ensembl 69_37n +1 known missense c.850 p.E284Q 1.000 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 29 0 0.00 20 8 28.57 - - - IGFN1 0 genome.wustl.edu 37 1 201176276 201176276 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 201176276 201176276 C T SNP IGFN1 ENST00000335211 human ensembl 69_37n +1 known missense c.2255 p.S752L 0.001 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC ENSG00000163395 82 0 0.00 58 11 15.94 - - - IGHM 0 genome.wustl.edu 37 14 106321092 106321092 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 106321092 106321092 C T SNP IGHM ENST00000390559 human ensembl 69_37n -1 known silent c.897 p.E299 0.000 pfam_Ig_C1-set,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 288 0 0.00 171 22 11.40 - - - IGSF5 0 genome.wustl.edu 37 21 41137565 41137565 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 21 41137565 41137565 C G SNP IGSF5 ENST00000380588 human ensembl 69_37n +1 novel silent c.204 p.L68 0.361 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF5 HGNC ENSG00000183067 99 0 0.00 52 9 14.75 - - - IL16 0 genome.wustl.edu 37 15 81572015 81572015 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 81572015 81572015 C T SNP IL16 ENST00000560115 human ensembl 69_37n +1 known missense c.130 p.H44Y 0.020 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IL16 HGNC ENSG00000172349 127 0 0.00 45 14 23.33 - - - IL24 0 genome.wustl.edu 37 1 207074880 207074880 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 207074880 207074880 C G SNP IL24 ENST00000294984 human ensembl 69_37n +1 known missense c.345 p.F115L 0.984 superfamily_4_helix_cytokine-like_core,prints_Interleukin-24 superfamily_4_helix_cytokine-like_core,prints_Interleukin-24 - no_errors IL24 HGNC ENSG00000162892 192 0 0.00 118 20 14.29 - - - ILF3 0 genome.wustl.edu 37 19 10781688 10781688 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 10781688 10781688 G C SNP ILF3 ENST00000449870 human ensembl 69_37n +1 known silent c.42 p.V14 0.997 NULL pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors ILF3 HGNC ENSG00000129351 156 0 0.00 68 9 11.54 - - - INPP1 0 genome.wustl.edu 37 2 191233908 191233908 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 191233908 191233908 C T SNP INPP1 ENST00000322522 human ensembl 69_37n +1 known silent c.546 p.V182 0.996 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 176 0 0.00 120 16 11.76 - - - INTS3 0 genome.wustl.edu 37 1 153730149 153730149 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 153730149 153730149 C T SNP INTS3 ENST00000318967 human ensembl 69_37n +1 known silent c.1059 p.I353 1.000 pfam_Integrator_3 pfam_Integrator_3 - no_errors INTS3 HGNC ENSG00000143624 182 0 0.00 107 37 25.52 - - - INTS4 0 genome.wustl.edu 37 11 77632422 77632422 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 77632422 77632422 G A SNP INTS4 ENST00000534064 human ensembl 69_37n -1 known silent c.1728 p.L576 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 170 0 0.00 81 17 17.35 - - - IPO11 0 genome.wustl.edu 37 5 61763034 61763034 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 61763034 61763034 C G SNP IPO11 ENST00000409296 human ensembl 69_37n +1 known missense c.713 p.S238C 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 381 0 0.00 155 33 17.46 - - - IRF2BPL 0 genome.wustl.edu 37 14 77492921 77492921 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 77492921 77492921 G A SNP IRF2BPL ENST00000238647 human ensembl 69_37n -1 known silent c.1215 p.F405 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 24 0 0.00 15 5 25.00 - - - IRS4 0 genome.wustl.edu 37 X 107976538 107976538 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 107976538 107976538 C G SNP IRS4 ENST00000372129 human ensembl 69_37n -1 known missense c.3037 p.E1013Q 0.049 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 102 0 0.00 42 11 20.75 - - - ITFG3 0 genome.wustl.edu 37 16 313755 313755 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 313755 313755 G A SNP ITFG3 ENST00000301678 human ensembl 69_37n +1 known missense c.1169 p.G390E 0.982 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ENSG00000167930 106 0 0.00 61 26 29.89 - - - ITGA8 0 genome.wustl.edu 37 10 15617552 15617552 + Nonsense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 15617552 15617552 C T SNP ITGA8 ENST00000378076 human ensembl 69_37n -1 known nonsense c.2414 p.W805* 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 371 0 0.00 160 34 17.53 - - - ITGAL 0 genome.wustl.edu 37 16 30485581 30485581 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 30485581 30485581 G A SNP ITGAL ENST00000356798 human ensembl 69_37n +1 known silent c.126 p.G42 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ENSG00000005844 23 0 0.00 18 4 18.18 - - - ITGB1 0 genome.wustl.edu 37 10 33199373 33199373 + Nonsense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 33199373 33199373 G A SNP ITGB1 ENST00000374956 human ensembl 69_37n -1 known nonsense c.1942 p.Q648* 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 132 0 0.00 83 11 11.70 - - - ITIH2 0 genome.wustl.edu 37 10 7768927 7768927 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 7768927 7768927 G A SNP ITIH2 ENST00000358415 human ensembl 69_37n +1 known missense c.999 p.M333I 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 178 0 0.00 96 12 11.11 - - - ITIH2 0 genome.wustl.edu 37 10 7769060 7769060 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 7769060 7769060 G A SNP ITIH2 ENST00000358415 human ensembl 69_37n +1 known missense c.1132 p.E378K 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 211 0 0.00 107 12 10.08 - - - ITIH2 0 genome.wustl.edu 37 10 7769779 7769779 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 7769779 7769779 G C SNP ITIH2 ENST00000358415 human ensembl 69_37n +1 known missense c.1267 p.D423H 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 245 0 0.00 103 23 18.25 - - - ITIH3 0 genome.wustl.edu 37 3 52839834 52839834 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 52839834 52839834 G A SNP ITIH3 ENST00000449956 human ensembl 69_37n +1 known silent c.1884 p.V628 0.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 41 0 0.00 15 7 31.82 - - - ITK 0 genome.wustl.edu 37 5 156675886 156675886 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 156675886 156675886 G A SNP ITK ENST00000422843 human ensembl 69_37n +1 known missense c.1660 p.E554K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 190 0 0.00 117 24 17.02 - - - ITPK1-AS1 0 genome.wustl.edu 37 14 93537590 93537590 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 93537590 93537590 G C SNP ITPK1-AS1 ENST00000553639 human ensembl 69_37n +1 known rna NULL NULL 0.076 - - - no_errors ITPK1-AS1 HGNC ENSG00000258730 20 0 0.00 18 4 18.18 - - - ITPR3 0 genome.wustl.edu 37 6 33608321 33608321 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 33608321 33608321 G C SNP ITPR3 ENST00000374316 human ensembl 69_37n +1 known missense c.150 p.K50N 1.000 pfam_Ins145_P3_rcpt,prints_InsP3_rcpt-bd 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 181 0 0.00 127 28 18.06 - - - JRK 0 genome.wustl.edu 37 8 143747381 143747381 + RNA SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 143747381 143747381 C G SNP JRK ENST00000422119 human ensembl 69_37n -1 known rna NULL NULL 0.984 - - - no_errors JRK HGNC ENSG00000234616 55 0 0.00 40 5 11.11 - - - KAT6B 0 genome.wustl.edu 37 10 76788633 76788633 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 76788633 76788633 G C SNP KAT6B ENST00000287239 human ensembl 69_37n +1 known missense c.4051 p.E1351Q 0.758 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 83 0 0.00 58 8 12.12 - - - KCNA3 0 genome.wustl.edu 37 1 111215712 111215712 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 111215712 111215712 C T SNP KCNA3 ENST00000369769 human ensembl 69_37n -1 known missense c.1720 p.D574N 1.000 NULL 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 236 1 0.42 96 22 18.49 - - - KCNH2 0 genome.wustl.edu 37 7 150654493 150654493 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 150654493 150654493 G A SNP KCNH2 ENST00000262186 human ensembl 69_37n -1 known silent c.1014 p.L338 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 238 0 0.00 216 34 13.60 - - - KCNQ5 0 genome.wustl.edu 37 6 73751697 73751697 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 73751697 73751697 C T SNP KCNQ5 ENST00000402622 human ensembl 69_37n +1 known silent c.528 p.I176 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 651 1 0.15 365 41 10.10 - - - KCNQ5 0 genome.wustl.edu 37 6 73751706 73751706 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 73751706 73751706 C T SNP KCNQ5 ENST00000402622 human ensembl 69_37n +1 known silent c.537 p.I179 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 652 0 0.00 355 44 11.00 - - - KDM4A 0 genome.wustl.edu 37 1 44137198 44137198 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 44137198 44137198 C G SNP KDM4A ENST00000372396 human ensembl 69_37n +1 known silent c.1386 p.V462 0.989 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 163 0 0.00 82 17 17.17 - - - KHDRBS3 0 genome.wustl.edu 37 8 136470169 136470169 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 136470169 136470169 C T SNP KHDRBS3 ENST00000355849 human ensembl 69_37n +1 known silent c.60 p.F20 1.000 NULL smart_KH_dom - no_errors KHDRBS3 HGNC ENSG00000131773 13 0 0.00 12 4 25.00 - - - KIAA1107 0 genome.wustl.edu 37 1 92648114 92648114 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 92648114 92648114 C G SNP KIAA1107 ENST00000409154 human ensembl 69_37n +1 known missense c.3725 p.S1242C 0.705 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 33 0 0.00 15 4 21.05 - - - KIAA1429 0 genome.wustl.edu 37 8 95518781 95518781 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 95518781 95518781 G A SNP KIAA1429 ENST00000297591 human ensembl 69_37n -1 known silent c.4044 p.V1348 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 103 0 0.00 77 10 11.49 - - - KIAA1549L 0 genome.wustl.edu 37 11 33680366 33680366 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 33680366 33680366 G A SNP KIAA1549L ENST00000389726 human ensembl 69_37n +1 known missense c.5056 p.D1686N 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 44 0 0.00 30 5 14.29 - - - KIF13B 0 genome.wustl.edu 37 8 28991565 28991565 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 28991565 28991565 G C SNP KIF13B ENST00000524189 human ensembl 69_37n -1 known missense c.2776 p.H926D 0.998 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 94 0 0.00 49 9 15.52 - - - KIF1A 0 genome.wustl.edu 37 2 241676565 241676565 + Nonsense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 241676565 241676565 C A SNP KIF1A ENST00000498729 human ensembl 69_37n -1 known nonsense c.3922 p.E1308* 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 232 0 0.00 129 17 11.64 - - - KIF4B 0 genome.wustl.edu 37 5 154396044 154396044 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 154396044 154396044 C G SNP KIF4B ENST00000435029 human ensembl 69_37n +1 known silent c.2625 p.V875 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 163 0 0.00 87 12 12.12 - - - KIF5B 0 genome.wustl.edu 37 10 32326280 32326280 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 32326280 32326280 G T SNP KIF5B ENST00000302418 human ensembl 69_37n -1 known missense c.613 p.H205N 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 393 0 0.00 137 47 25.27 - - - KLHDC2 0 genome.wustl.edu 37 14 50249116 50249116 + Nonsense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 50249116 50249116 G T SNP KLHDC2 ENST00000298307 human ensembl 69_37n +1 known nonsense c.985 p.E329* 1.000 NULL pfam_Kelch_2 - no_errors KLHDC2 HGNC ENSG00000165516 400 0 0.00 221 27 10.89 - - - KLHL15 0 genome.wustl.edu 37 X 24024795 24024795 + Nonsense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 24024795 24024795 C A SNP KLHL15 ENST00000328046 human ensembl 69_37n -1 known nonsense c.16 p.E6* 1.000 superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 58 0 0.00 37 7 15.91 - - - KLHL32 0 genome.wustl.edu 37 6 97512544 97512544 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 97512544 97512544 C T SNP KLHL32 ENST00000369261 human ensembl 69_37n +1 known missense c.353 p.A118V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 213 0 0.00 104 27 20.61 - - - KLK11 0 genome.wustl.edu 37 19 51527553 51527553 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 51527553 51527553 G A SNP KLK11 ENST00000319756 human ensembl 69_37n -1 known missense c.307 p.H103Y 0.932 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 KLK11 HGNC ENSG00000167757 205 0 0.00 118 19 13.87 - - - KNDC1 0 genome.wustl.edu 37 10 135025317 135025317 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 135025317 135025317 C T SNP KNDC1 ENST00000368572 human ensembl 69_37n +1 known silent c.4197 p.F1399 0.813 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 49 0 0.00 33 5 13.16 - - - KRT19 0 genome.wustl.edu 37 17 39681449 39681449 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 39681449 39681449 C T SNP KRT19 ENST00000361566 human ensembl 69_37n -1 known missense c.497 p.R166Q 0.988 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 121 0 0.00 76 10 11.49 - - - KRT25 0 genome.wustl.edu 37 17 38907262 38907262 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 38907262 38907262 C T SNP KRT25 ENST00000312150 human ensembl 69_37n -1 known missense c.901 p.E301K 0.994 pfam_F pfam_F,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 326 0 0.00 94 42 30.88 - - - KRT9 0 genome.wustl.edu 37 17 39724859 39724859 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 39724859 39724859 G A SNP KRT9 ENST00000246662 human ensembl 69_37n -1 known silent c.1071 p.S357 0.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 181 0 0.00 81 22 21.36 - - - LAMA3 0 genome.wustl.edu 37 18 21494748 21494748 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 21494748 21494748 G C SNP LAMA3 ENST00000313654 human ensembl 69_37n +1 known missense c.7568 p.R2523T 0.156 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 180 0 0.00 98 13 11.71 - - - LAMA5 0 genome.wustl.edu 37 20 60911821 60911821 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 60911821 60911821 C A SNP LAMA5 ENST00000252999 human ensembl 69_37n -1 known missense c.2186 p.G729V 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 91 0 0.00 50 12 19.35 - - - LAMB1 0 genome.wustl.edu 37 7 107576031 107576031 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 107576031 107576031 G A SNP LAMB1 ENST00000222399 human ensembl 69_37n -1 known silent c.4017 p.T1339 0.682 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 310 0 0.00 276 32 10.39 - - - LCMT1 0 genome.wustl.edu 37 16 25176024 25176024 + Nonsense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 25176024 25176024 C G SNP LCMT1 ENST00000575396 human ensembl 69_37n +1 putative nonsense c.14 p.S5* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LCMT1 HGNC ENSG00000205629 124 0 0.00 74 9 10.84 - - - LCP2 0 genome.wustl.edu 37 5 169677830 169677830 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 169677830 169677830 G C SNP LCP2 ENST00000046794 human ensembl 69_37n -1 known silent c.1383 p.L461 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 483 0 0.00 251 39 13.40 - - - LDHC 0 genome.wustl.edu 37 11 18467850 18467850 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 18467850 18467850 G C SNP LDHC ENST00000280704 human ensembl 69_37n +1 known missense c.804 p.R268S 0.997 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC ENSG00000166796 327 0 0.00 156 26 14.29 - - - LINGO2 0 genome.wustl.edu 37 9 27948932 27948932 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 27948932 27948932 C G SNP LINGO2 ENST00000308675 human ensembl 69_37n -1 known missense c.1738 p.E580Q 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC ENSG00000174482 249 0 0.00 104 30 22.39 - - - LRBA 0 genome.wustl.edu 37 4 151850194 151850194 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 151850194 151850194 C T SNP LRBA ENST00000357115 human ensembl 69_37n -1 known silent c.240 p.L80 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 131 0 0.00 63 19 22.89 - - - LRP2 0 genome.wustl.edu 37 2 170029697 170029697 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 170029697 170029697 G C SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.11052 p.F3684L 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 328 0 0.00 190 30 13.51 - - - LRPPRC 0 genome.wustl.edu 37 2 44123829 44123829 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 44123829 44123829 C T SNP LRPPRC ENST00000260665 human ensembl 69_37n -1 known missense c.3844 p.E1282K 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 209 0 0.00 74 9 10.84 - - - LRPPRC 0 genome.wustl.edu 37 2 44126455 44126455 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 44126455 44126455 C G SNP LRPPRC ENST00000260665 human ensembl 69_37n -1 known missense c.3728 p.R1243T 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 106 0 0.00 66 8 10.81 - - - LRRC2 0 genome.wustl.edu 37 3 46592974 46592974 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 46592974 46592974 C T SNP LRRC2 ENST00000296144 human ensembl 69_37n -1 known silent c.108 p.E36 0.850 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC2 HGNC ENSG00000163827 262 0 0.00 84 21 20.00 - - - LRRC32 0 genome.wustl.edu 37 11 76371263 76371263 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 76371263 76371263 G C SNP LRRC32 ENST00000260061 human ensembl 69_37n -1 known silent c.1374 p.L458 0.439 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 44 0 0.00 17 4 19.05 - - - LRRC37BP1 0 genome.wustl.edu 37 17 28961240 28961240 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 28961240 28961240 G C SNP LRRC37BP1 ENST00000398849 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors LRRC37BP1 HGNC ENSG00000214719 18 0 0.00 10 3 23.08 - - - LRRC66 0 genome.wustl.edu 37 4 52862139 52862139 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 52862139 52862139 C T SNP LRRC66 ENST00000343457 human ensembl 69_37n -1 known missense c.1049 p.R350K 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 61 0 0.00 42 11 20.75 - - - LRRIQ1 0 genome.wustl.edu 37 12 85439870 85439870 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 85439870 85439870 G A SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known missense c.409 p.E137K 0.234 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 170 0 0.00 71 9 11.25 - - - LY9 0 genome.wustl.edu 37 1 160788033 160788033 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 160788033 160788033 G C SNP LY9 ENST00000263285 human ensembl 69_37n +1 known missense c.1368 p.W456C 0.024 NULL smart_Ig_sub,pfscan_Ig-like - no_errors LY9 HGNC ENSG00000122224 682 0 0.00 381 46 10.75 - - - LYPD1 0 genome.wustl.edu 37 2 133426009 133426009 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 133426009 133426009 C T SNP LYPD1 ENST00000397463 human ensembl 69_37n -1 known missense c.154 p.D52N 1.000 NULL NULL - no_errors LYPD1 HGNC ENSG00000150551 118 0 0.00 69 9 11.39 - - - LYPD3 0 genome.wustl.edu 37 19 43965792 43965792 + Nonsense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 43965792 43965792 G C SNP LYPD3 ENST00000244333 human ensembl 69_37n -1 known nonsense c.752 p.S251* 0.000 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC ENSG00000124466 313 0 0.00 195 22 10.14 - - - LYST 0 genome.wustl.edu 37 1 235916501 235916501 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 235916501 235916501 C G SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.7303 p.E2435Q 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 83 0 0.00 41 8 16.33 - - - MAGEE1 0 genome.wustl.edu 37 X 75649826 75649826 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 75649826 75649826 C T SNP MAGEE1 ENST00000361470 human ensembl 69_37n +1 known silent c.1503 p.F501 0.588 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 87 0 0.00 68 8 10.53 - - - MAMSTR 0 genome.wustl.edu 37 19 49216976 49216976 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 49216976 49216976 C G SNP MAMSTR ENST00000318083 human ensembl 69_37n -1 known missense c.961 p.D321H 0.111 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors MAMSTR HGNC ENSG00000176909 226 0 0.00 164 28 14.58 - - - MAPK12 0 genome.wustl.edu 37 22 50688962 50688962 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 22 50688962 50688962 G A SNP MAPK12 ENST00000497036 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors MAPK12 HGNC ENSG00000188130 35 0 0.00 19 8 29.63 - - - MAS1L 0 genome.wustl.edu 37 6 29455213 29455213 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 29455213 29455213 G C SNP MAS1L ENST00000377127 human ensembl 69_37n -1 known missense c.467 p.S156C 0.002 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 43 0 0.00 18 4 18.18 - - - MB21D2 0 genome.wustl.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 192516720 192516720 G C SNP MB21D2 ENST00000392452 human ensembl 69_37n -1 known missense c.931 p.Q311E 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 39 0 0.00 21 8 24.24 - - - MCCC1 0 genome.wustl.edu 37 3 182738007 182738007 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 182738007 182738007 C A SNP MCCC1 ENST00000265594 human ensembl 69_37n -1 known missense c.1888 p.D630Y 0.991 pfscan_Biotin_lipoyl pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors MCCC1 HGNC ENSG00000078070 162 0 0.00 112 13 10.40 - - - MCHR2 0 genome.wustl.edu 37 6 100369053 100369053 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 100369053 100369053 C G SNP MCHR2 ENST00000281806 human ensembl 69_37n -1 known silent c.786 p.L262 0.083 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH2_receptor,prints_7TM_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 395 0 0.00 199 23 10.36 - - - MCM6 0 genome.wustl.edu 37 2 136622641 136622641 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 136622641 136622641 C G SNP MCM6 ENST00000264156 human ensembl 69_37n -1 known missense c.1020 p.M340I 1.000 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 377 0 0.00 137 53 27.89 - - - MCMDC2 0 genome.wustl.edu 37 8 67789746 67789746 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 67789746 67789746 C G SNP MCMDC2 ENST00000422365 human ensembl 69_37n +1 known missense c.448 p.L150V 1.000 superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase - no_errors MCMDC2 HGNC ENSG00000178460 217 0 0.00 109 23 17.42 - - - MDC1 0 genome.wustl.edu 37 6 30672142 30672142 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 30672142 30672142 G C SNP MDC1 ENST00000376406 human ensembl 69_37n -1 known silent c.4818 p.V1606 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 223 0 0.00 119 39 24.53 - - - MDN1 0 genome.wustl.edu 37 6 90368526 90368526 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 90368526 90368526 C G SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.14824 p.E4942Q 0.997 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 820 0 0.00 448 68 13.18 - - - MED13L 0 genome.wustl.edu 37 12 116446775 116446775 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 116446775 116446775 C G SNP MED13L ENST00000281928 human ensembl 69_37n -1 known missense c.1443 p.K481N 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 838 0 0.00 525 63 10.68 - - - MED14 0 genome.wustl.edu 37 X 40560457 40560457 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 40560457 40560457 C G SNP MED14 ENST00000324817 human ensembl 69_37n -1 known missense c.1450 p.D484H 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 319 0 0.00 139 18 11.46 - - - MED16 0 genome.wustl.edu 37 19 891096 891096 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 891096 891096 C T SNP MED16 ENST00000325464 human ensembl 69_37n -1 known missense c.36 p.M12I 0.004 NULL pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 72 0 0.00 30 11 26.83 - - - MEF2A 0 genome.wustl.edu 37 15 100250838 100250838 + Splice_Site SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 100250838 100250838 G C SNP MEF2A ENST00000338042 human ensembl 69_37n +1 known splice_site c.1013-1 e10-1 1.000 - - - no_errors MEF2A HGNC ENSG00000068305 100 0 0.00 37 6 13.95 - - - MEP1B 0 genome.wustl.edu 37 18 29787254 29787254 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 29787254 29787254 C T SNP MEP1B ENST00000269202 human ensembl 69_37n +1 known missense c.587 p.S196L 0.904 pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1B HGNC ENSG00000141434 88 0 0.00 53 9 14.52 - - - MEP1B 0 genome.wustl.edu 37 18 29797015 29797015 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 29797015 29797015 C T SNP MEP1B ENST00000269202 human ensembl 69_37n +1 known silent c.1821 p.L607 0.028 pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1B HGNC ENSG00000141434 430 0 0.00 196 54 21.60 - - - METTL7B 0 genome.wustl.edu 37 12 56075776 56075776 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 56075776 56075776 G A SNP METTL7B ENST00000394252 human ensembl 69_37n +1 known missense c.238 p.G80R 0.999 pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors METTL7B HGNC ENSG00000170439 122 0 0.00 56 11 16.42 - - - MFN2 0 genome.wustl.edu 37 1 12049355 12049355 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 12049355 12049355 G C SNP MFN2 ENST00000235329 human ensembl 69_37n +1 known missense c.130 p.E44Q 1.000 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase - no_errors MFN2 HGNC ENSG00000116688 159 0 0.00 81 15 15.62 - - - MGAM 0 genome.wustl.edu 37 7 141784373 141784373 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 141784373 141784373 C T SNP MGAM ENST00000475668 human ensembl 69_37n +1 putative missense c.6439 p.R2147C 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 159 0 0.00 185 26 12.32 - - - MGARP 0 genome.wustl.edu 37 4 140187981 140187981 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 140187981 140187981 C T SNP MGARP ENST00000398955 human ensembl 69_37n -1 known silent c.495 p.A165 0.000 NULL NULL - no_errors MGARP HGNC ENSG00000137463 397 0 0.00 230 27 10.51 - - - MIER2 0 genome.wustl.edu 37 19 326542 326542 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 326542 326542 C T SNP MIER2 ENST00000264819 human ensembl 69_37n -1 known missense c.550 p.E184K 0.958 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 133 0 0.00 65 17 20.73 - - - MIER2 0 genome.wustl.edu 37 19 326574 326574 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 326574 326574 C A SNP MIER2 ENST00000264819 human ensembl 69_37n -1 known missense c.518 p.R173I 0.012 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC ENSG00000105556 103 0 0.00 49 13 20.97 - - - MINK1 0 genome.wustl.edu 37 17 4800501 4800501 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 4800501 4800501 G A SNP MINK1 ENST00000355280 human ensembl 69_37n +1 known silent c.3918 p.V1306 1.000 smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MINK1 HGNC ENSG00000141503 202 0 0.00 94 12 11.21 - - - MIR634 0 genome.wustl.edu 37 17 64783247 64783247 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 64783247 64783247 G A SNP MIR634 ENST00000385208 human ensembl 69_37n +1 known rna NULL NULL 0.263 - - - no_errors MIR634 HGNC ENSG00000207943 133 0 0.00 82 14 14.58 - - - MIR7-3HG 0 genome.wustl.edu 37 19 4772199 4772199 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 4772199 4772199 C T SNP MIR7-3HG ENST00000592709 human ensembl 69_37n +1 novel missense c.302 p.S101F 0.000 NULL NULL - no_errors MIR7-3HG HGNC ENSG00000176840 286 0 0.00 132 18 12.00 - - - MIS18BP1 0 genome.wustl.edu 37 14 45693461 45693461 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 45693461 45693461 C T SNP MIS18BP1 ENST00000310806 human ensembl 69_37n -1 known missense c.2329 p.E777K 0.926 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 374 0 0.00 188 25 11.68 - - - MKNK1 0 genome.wustl.edu 37 1 47048952 47048952 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 47048952 47048952 C T SNP MKNK1 ENST00000371946 human ensembl 69_37n -1 known silent c.84 p.R28 0.960 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 - no_errors MKNK1 HGNC ENSG00000079277 121 0 0.00 56 12 17.65 - - - MLL 0 genome.wustl.edu 37 11 118363787 118363787 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 118363787 118363787 G C SNP MLL ENST00000389506 human ensembl 69_37n +1 known missense c.5011 p.D1671H 1.000 smart_Bromodomain,pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 106 0 0.00 57 10 14.71 - - - MMP11 0 genome.wustl.edu 37 22 24121532 24121532 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 22 24121532 24121532 G C SNP MMP11 ENST00000215743 human ensembl 69_37n +1 known silent c.267 p.L89 0.010 pirsf_Pept_M10A_matrix_strom pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP11 HGNC ENSG00000099953 18 0 0.00 12 5 29.41 - - - MOGAT2 0 genome.wustl.edu 37 11 75442295 75442295 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 75442295 75442295 C G SNP MOGAT2 ENST00000198801 human ensembl 69_37n +1 known missense c.969 p.F323L 1.000 pfam_DAGAT pfam_DAGAT - no_errors MOGAT2 HGNC ENSG00000166391 92 0 0.00 52 10 15.87 - - - MORC3 0 genome.wustl.edu 37 21 37732314 37732314 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 21 37732314 37732314 G C SNP MORC3 ENST00000400485 human ensembl 69_37n +1 known missense c.1270 p.D424H 1.000 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 292 0 0.00 162 27 14.29 - - - MORC3 0 genome.wustl.edu 37 21 37741289 37741289 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 21 37741289 37741289 G C SNP MORC3 ENST00000400485 human ensembl 69_37n +1 known missense c.1623 p.L541F 0.102 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 85 0 0.00 50 6 10.71 - - - MPL 0 genome.wustl.edu 37 1 43814957 43814957 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 43814957 43814957 C G SNP MPL ENST00000372470 human ensembl 69_37n +1 known missense c.1492 p.L498V 0.516 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 131 0 0.00 102 18 14.88 - - - MPO 0 genome.wustl.edu 37 17 56355507 56355507 + Splice_Site SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 56355507 56355507 C T SNP MPO ENST00000340482 human ensembl 69_37n -1 known splice_site c.982-1 e6-1 1.000 - - - no_errors MPO HGNC ENSG00000005381 126 0 0.00 63 9 12.50 - - - MPO 0 genome.wustl.edu 37 17 56358002 56358002 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 56358002 56358002 G C SNP MPO ENST00000340482 human ensembl 69_37n -1 known missense c.118 p.L40V 0.002 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 88 0 0.00 42 5 10.64 - - - MR1 0 genome.wustl.edu 37 1 181018285 181018285 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 181018285 181018285 C G SNP MR1 ENST00000367580 human ensembl 69_37n +1 known missense c.165 p.I55M 0.040 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like - no_errors MR1 HGNC ENSG00000153029 111 0 0.00 67 17 20.24 - - - MRPL37 0 genome.wustl.edu 37 1 54670807 54670807 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 54670807 54670807 C T SNP MRPL37 ENST00000360840 human ensembl 69_37n +1 known silent c.463 p.L155 0.999 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC ENSG00000116221 128 0 0.00 58 13 18.31 - - - MTA2 0 genome.wustl.edu 37 11 62365556 62365556 + Nonsense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 62365556 62365556 G A SNP MTA2 ENST00000278823 human ensembl 69_37n -1 known nonsense c.430 p.Q144* 1.000 smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 106 0 0.00 68 11 13.92 - - - MUSK 0 genome.wustl.edu 37 9 113547901 113547901 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 113547901 113547901 C T SNP MUSK ENST00000189978 human ensembl 69_37n +1 known silent c.1699 p.L567 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 296 0 0.00 178 25 12.32 - - - MUTYH 0 genome.wustl.edu 37 1 45796988 45796988 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 45796988 45796988 G C SNP MUTYH ENST00000450313 human ensembl 69_37n -1 known missense c.1342 p.H448D 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 131 0 0.00 75 11 12.79 - - - MXD1 0 genome.wustl.edu 37 2 70164430 70164430 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 70164430 70164430 C T SNP MXD1 ENST00000264444 human ensembl 69_37n +1 known missense c.382 p.H128Y 0.996 superfamily_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MXD1 HGNC ENSG00000059728 82 0 0.00 39 22 36.07 - - - MYCBP2 0 genome.wustl.edu 37 13 77672548 77672548 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 77672548 77672548 G A SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known missense c.8741 p.S2914F 0.356 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 109 0 0.00 69 8 10.39 - - - MYCBP2 0 genome.wustl.edu 37 13 77673130 77673130 + Nonsense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 77673130 77673130 G C SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known nonsense c.8159 p.S2720* 0.883 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 84 0 0.00 38 9 19.15 - - - MYH15 0 genome.wustl.edu 37 3 108133098 108133098 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 108133098 108133098 C G SNP MYH15 ENST00000273353 human ensembl 69_37n -1 known missense c.4186 p.E1396Q 1.000 pfam_Myosin_tail,superfamily_Lambda_DNA-bd_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 355 0 0.00 229 27 10.51 - - - MYH15 0 genome.wustl.edu 37 3 108224632 108224632 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 108224632 108224632 C T SNP MYH15 ENST00000273353 human ensembl 69_37n -1 known missense c.193 p.E65K 0.976 pfam_Myosin_N pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 315 0 0.00 149 32 17.68 - - - MYH7 0 genome.wustl.edu 37 14 23883308 23883308 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 23883308 23883308 C T SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known missense c.5563 p.E1855K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 112 0 0.00 70 14 16.67 - - - MYO1D 0 genome.wustl.edu 37 17 31091997 31091997 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 31091997 31091997 C T SNP MYO1D ENST00000318217 human ensembl 69_37n -1 known missense c.934 p.E312K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 283 1 0.35 160 27 14.44 - - - MYOM2 0 genome.wustl.edu 37 8 2071151 2071151 + Silent SNP T T A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 2071151 2071151 T A SNP MYOM2 ENST00000262113 human ensembl 69_37n +1 known silent c.3480 p.V1160 0.473 smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 148 0 0.00 96 11 10.28 - - - MYT1 0 genome.wustl.edu 37 20 62871771 62871771 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 62871771 62871771 C G SNP MYT1 ENST00000536311 human ensembl 69_37n +1 known missense c.3417 p.I1139M 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 102 0 0.00 66 22 25.00 - - - NALCN 0 genome.wustl.edu 37 13 101733934 101733934 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 101733934 101733934 C G SNP NALCN ENST00000251127 human ensembl 69_37n -1 known missense c.3829 p.D1277H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 171 0 0.00 96 11 10.28 - - - NCAPD2 0 genome.wustl.edu 37 12 6640219 6640219 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 6640219 6640219 C T SNP NCAPD2 ENST00000315579 human ensembl 69_37n +1 known missense c.4097 p.S1366L 0.986 pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 78 0 0.00 57 9 13.64 - - - NCOA1 0 genome.wustl.edu 37 2 24952396 24952396 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 24952396 24952396 G C SNP NCOA1 ENST00000348332 human ensembl 69_37n +1 known missense c.2913 p.E971D 1.000 pfam_Nuc_rcpt_coact_Ncoa-typ,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA1 HGNC ENSG00000084676 181 0 0.00 89 18 16.82 - - - NCOA5 0 genome.wustl.edu 37 20 44691046 44691046 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 44691046 44691046 C G SNP NCOA5 ENST00000290231 human ensembl 69_37n -1 known missense c.1633 p.D545H 1.000 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 87 0 0.00 80 9 10.11 - - - NDE1 0 genome.wustl.edu 37 16 15817991 15817991 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 15817991 15817991 G C SNP NDE1 ENST00000571896 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors NDE1 HGNC ENSG00000072864 81 0 0.00 45 6 11.76 - - - NDFIP2 0 genome.wustl.edu 37 13 80055606 80055606 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 80055606 80055606 C A SNP NDFIP2 ENST00000218652 human ensembl 69_37n +1 known missense c.268 p.P90T 0.295 NULL pfam_NEDD4/BSD2 - no_errors NDFIP2 HGNC ENSG00000102471 17 0 0.00 10 5 33.33 - - - NDRG1 0 genome.wustl.edu 37 8 134271459 134271459 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 134271459 134271459 G T SNP NDRG1 ENST00000323851 human ensembl 69_37n -1 known missense c.341 p.S114Y 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 69 0 0.00 60 10 14.29 - - - NDRG3 0 genome.wustl.edu 37 20 35293685 35293685 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 35293685 35293685 C T SNP NDRG3 ENST00000349004 human ensembl 69_37n -1 known missense c.712 p.E238K 1.000 pfam_Ndr,pfam_AB_hydrolase_1 pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC ENSG00000101079 379 0 0.00 200 30 12.99 - - - NDRG4 0 genome.wustl.edu 37 16 58537743 58537743 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 58537743 58537743 G A SNP NDRG4 ENST00000561738 human ensembl 69_37n +1 putative missense c.7 p.D3N 1.000 pfam_Ndr pfam_Ndr - no_start_codon:pseudogene:no_stop_codon NDRG4 HGNC ENSG00000103034 66 0 0.00 36 7 16.28 - - - NDST1 0 genome.wustl.edu 37 5 149927847 149927847 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 149927847 149927847 C G SNP NDST1 ENST00000261797 human ensembl 69_37n +1 known missense c.2213 p.S738C 0.994 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST1 HGNC ENSG00000070614 58 0 0.00 31 6 15.79 - - - NEB 0 genome.wustl.edu 37 2 152352825 152352825 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 152352825 152352825 C G SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.24451 p.E8151Q 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 505 0 0.00 266 38 12.46 - - - NEB 0 genome.wustl.edu 37 2 152472569 152472569 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 152472569 152472569 G A SNP NEB ENST00000397345 human ensembl 69_37n -1 known silent c.11236 p.L3746 0.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 171 0 0.00 83 17 16.83 - - - NEDD1 0 genome.wustl.edu 37 12 97339470 97339470 + Splice_Site SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 97339470 97339470 G C SNP NEDD1 ENST00000557644 human ensembl 69_37n +1 known splice_site c.1676-1 e13-1 1.000 - - - no_errors NEDD1 HGNC ENSG00000139350 120 0 0.00 57 10 14.93 - - - NEK9 0 genome.wustl.edu 37 14 75576448 75576448 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 75576448 75576448 G A SNP NEK9 ENST00000238616 human ensembl 69_37n -1 known silent c.1122 p.V374 1.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 98 0 0.00 61 8 11.59 - - - NFATC3 0 genome.wustl.edu 37 16 68260336 68260336 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 68260336 68260336 C G SNP NFATC3 ENST00000346183 human ensembl 69_37n +1 known missense c.3190 p.P1064A 0.234 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 117 0 0.00 44 13 22.81 - - - NFKBIA 0 genome.wustl.edu 37 14 35871602 35871602 + Nonsense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 35871602 35871602 C A SNP NFKBIA ENST00000216797 human ensembl 69_37n -1 known nonsense c.904 p.E302* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIA HGNC ENSG00000100906 104 0 0.00 66 9 12.00 - - - NFKBIA 0 genome.wustl.edu 37 14 35872475 35872475 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 35872475 35872475 C T SNP NFKBIA ENST00000216797 human ensembl 69_37n -1 known missense c.428 p.R143Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIA HGNC ENSG00000100906 155 0 0.00 80 22 21.57 - - - NID1 0 genome.wustl.edu 37 1 236201532 236201532 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 236201532 236201532 G A SNP NID1 ENST00000264187 human ensembl 69_37n -1 known missense c.1157 p.S386F 0.935 smart_EGF-like_Ca-bd pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 123 0 0.00 70 11 13.58 - - - NLGN2 0 genome.wustl.edu 37 17 7320450 7320450 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 7320450 7320450 G A SNP NLGN2 ENST00000302926 human ensembl 69_37n +1 known missense c.1840 p.E614K 0.996 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 44 0 0.00 16 5 23.81 - - - NNT 0 genome.wustl.edu 37 5 43624200 43624200 + Missense_Mutation SNP A A G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 43624200 43624200 A G SNP NNT ENST00000264663 human ensembl 69_37n +1 known missense c.754 p.I252V 0.936 pfam_AlaDH/PNT_NAD(H)-bd,tigrfam_NADP_transhyd_a pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 550 0 0.00 289 86 22.93 - - - NOS1AP 0 genome.wustl.edu 37 1 162335292 162335292 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 162335292 162335292 C T SNP NOS1AP ENST00000361897 human ensembl 69_37n +1 known silent c.1038 p.L346 0.917 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors NOS1AP HGNC ENSG00000198929 90 0 0.00 46 16 25.81 - - - NPC1 0 genome.wustl.edu 37 18 21136398 21136398 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 21136398 21136398 C G SNP NPC1 ENST00000269228 human ensembl 69_37n -1 known missense c.1135 p.D379H 1.000 tigrfam_NP_C_type pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 130 0 0.00 94 11 10.48 - - - NPVF 0 genome.wustl.edu 37 7 25266495 25266495 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 25266495 25266495 G C SNP NPVF ENST00000222674 human ensembl 69_37n -1 known missense c.289 p.Q97E 0.020 NULL NULL - no_errors NPVF HGNC ENSG00000105954 448 0 0.00 257 34 11.68 - - - NRG2 0 genome.wustl.edu 37 5 139267074 139267074 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 139267074 139267074 C G SNP NRG2 ENST00000545385 human ensembl 69_37n -1 known missense c.723 p.K241N 1.000 pfam_Ig_I-set,pfscan_Ig-like pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like - no_errors NRG2 HGNC ENSG00000158458 211 0 0.00 121 14 10.37 - - - NSD1 0 genome.wustl.edu 37 5 176709505 176709505 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 176709505 176709505 G A SNP NSD1 ENST00000439151 human ensembl 69_37n +1 known missense c.5932 p.E1978K 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 404 0 0.00 163 27 14.21 - - - NT5C3 0 genome.wustl.edu 37 7 33060930 33060930 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 33060930 33060930 C G SNP NT5C3 ENST00000242210 human ensembl 69_37n -1 known missense c.409 p.D137H 1.000 pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu - no_errors NT5C3 HGNC ENSG00000122643 284 0 0.00 161 25 13.44 - - - NTHL1 0 genome.wustl.edu 37 16 2096298 2096298 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 2096298 2096298 C G SNP NTHL1 ENST00000219066 human ensembl 69_37n -1 known missense c.209 p.G70A 0.000 NULL pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 99 0 0.00 70 8 10.26 - - - NTSR2 0 genome.wustl.edu 37 2 11798750 11798750 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 11798750 11798750 G C SNP NTSR2 ENST00000306928 human ensembl 69_37n -1 known missense c.1088 p.S363C 1.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_NT2_rcpt,prints_NT_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors NTSR2 HGNC ENSG00000169006 199 0 0.00 99 12 10.81 - - - NUDC 0 genome.wustl.edu 37 1 27272144 27272144 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 27272144 27272144 C T SNP NUDC ENST00000321265 human ensembl 69_37n +1 known missense c.911 p.S304L 1.000 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDC HGNC ENSG00000090273 101 0 0.00 71 14 16.47 - - - NUDT7 0 genome.wustl.edu 37 16 77775548 77775548 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 77775548 77775548 G A SNP NUDT7 ENST00000268533 human ensembl 69_37n +1 known missense c.418 p.E140K 0.998 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 99 0 0.00 72 12 14.29 - - - NUGGC 0 genome.wustl.edu 37 8 27886852 27886852 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 27886852 27886852 G T SNP NUGGC ENST00000341513 human ensembl 69_37n -1 known missense c.2085 p.D695E 0.996 NULL pfam_Dynamin_GTPase - no_errors NUGGC HGNC ENSG00000189233 257 0 0.00 113 19 14.39 - - - NUP153 0 genome.wustl.edu 37 6 17675248 17675248 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 17675248 17675248 G A SNP NUP153 ENST00000537253 human ensembl 69_37n -1 known missense c.740 p.S247L 1.000 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 196 0 0.00 189 24 11.27 - - - NXPE2 0 genome.wustl.edu 37 11 114569282 114569282 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 114569282 114569282 C T SNP NXPE2 ENST00000389586 human ensembl 69_37n +1 known silent c.648 p.F216 0.951 NULL superfamily_Ig_E-set - no_errors NXPE2 HGNC ENSG00000204361 192 0 0.00 107 18 14.40 - - - OCRL 0 genome.wustl.edu 37 X 128723901 128723901 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 128723901 128723901 C T SNP OCRL ENST00000371113 human ensembl 69_37n +1 known missense c.2549 p.S850F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 206 0 0.00 110 20 15.38 - - - ODF2 0 genome.wustl.edu 37 9 131236003 131236003 + Nonsense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 131236003 131236003 G T SNP ODF2 ENST00000372796 human ensembl 69_37n +1 known nonsense c.826 p.E276* 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 94 0 0.00 43 5 10.42 - - - ODF2 0 genome.wustl.edu 37 9 131250224 131250224 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 131250224 131250224 G A SNP ODF2 ENST00000372796 human ensembl 69_37n +1 known missense c.1456 p.D486N 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 206 0 0.00 148 20 11.90 - - - ODZ4 0 genome.wustl.edu 37 11 78383321 78383321 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 78383321 78383321 C T SNP ODZ4 ENST00000278550 human ensembl 69_37n -1 known silent c.5550 p.E1850 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 171 0 0.00 95 21 18.10 - - - OGFOD1 0 genome.wustl.edu 37 16 56510098 56510098 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 56510098 56510098 C T SNP OGFOD1 ENST00000566157 human ensembl 69_37n +1 known missense c.1610 p.S537L 1.000 NULL pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 115 0 0.00 70 10 12.50 - - - OGT 0 genome.wustl.edu 37 X 70793552 70793552 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 70793552 70793552 G C SNP OGT ENST00000373719 human ensembl 69_37n +1 known missense c.3049 p.E1017Q 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 246 0 0.00 113 16 12.40 - - - OPTN 0 genome.wustl.edu 37 10 13164482 13164482 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 13164482 13164482 G C SNP OPTN ENST00000263036 human ensembl 69_37n +1 known missense c.877 p.E293Q 0.915 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 155 0 0.00 69 12 14.81 - - - OR13C4 0 genome.wustl.edu 37 9 107289308 107289308 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 107289308 107289308 G A SNP OR13C4 ENST00000277216 human ensembl 69_37n -1 known silent c.183 p.F61 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR13C4 HGNC ENSG00000148136 230 0 0.00 154 22 12.50 - - - OR1J2 0 genome.wustl.edu 37 9 125273830 125273830 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 125273830 125273830 C T SNP OR1J2 ENST00000335302 human ensembl 69_37n +1 known silent c.750 p.L250 0.000 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 OR1J2 HGNC ENSG00000197233 353 0 0.00 205 33 13.81 - - - OR2J1 0 genome.wustl.edu 37 6 29068920 29068920 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 29068920 29068920 C T SNP OR2J1 ENST00000377171 human ensembl 69_37n +1 known silent c.201 p.L67 0.767 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 OR2J1 HGNC ENSG00000204702 68 0 0.00 47 6 11.32 - - - OR4C11 0 genome.wustl.edu 37 11 55371784 55371784 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 55371784 55371784 C T SNP OR4C11 ENST00000302231 human ensembl 69_37n -1 known silent c.66 p.Q22 0.073 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4C11 HGNC ENSG00000172188 117 0 0.00 39 8 17.02 - - - OR4D6 0 genome.wustl.edu 37 11 59224695 59224695 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 59224695 59224695 G A SNP OR4D6 ENST00000300127 human ensembl 69_37n +1 known missense c.262 p.D88N 0.014 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 OR4D6 HGNC ENSG00000166884 327 0 0.00 156 29 15.68 - - - OR51E1 0 genome.wustl.edu 37 11 4674549 4674549 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 4674549 4674549 C G SNP OR51E1 ENST00000396952 human ensembl 69_37n +1 known missense c.793 p.R265G 1.000 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 OR51E1 HGNC ENSG00000180785 291 0 0.00 141 25 15.06 - - - OR56B4 0 genome.wustl.edu 37 11 6129491 6129491 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 6129491 6129491 G A SNP OR56B4 ENST00000316529 human ensembl 69_37n +1 known silent c.483 p.L161 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors OR56B4 HGNC ENSG00000180919 154 0 0.00 76 13 14.61 - - - OR5B17 0 genome.wustl.edu 37 11 58125988 58125988 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 58125988 58125988 C T SNP OR5B17 ENST00000357377 human ensembl 69_37n -1 known silent c.555 p.L185 0.014 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5B17 HGNC ENSG00000197786 93 0 0.00 40 13 24.53 - - - OR8K1 0 genome.wustl.edu 37 11 56114208 56114208 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 56114208 56114208 C T SNP OR8K1 ENST00000279783 human ensembl 69_37n +1 known missense c.694 p.L232F 0.000 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 OR8K1 HGNC ENSG00000150261 250 0 0.00 101 15 12.93 - - - ORC1 0 genome.wustl.edu 37 1 52850287 52850287 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 52850287 52850287 G C SNP ORC1 ENST00000371566 human ensembl 69_37n -1 known missense c.1690 p.Q564E 0.995 pfam_ATPase_AAA_core,pfam_DUF2075,smart_AAA+_ATPase pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 178 0 0.00 100 15 13.04 - - - OSBPL1A 0 genome.wustl.edu 37 18 21750311 21750311 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 21750311 21750311 C G SNP OSBPL1A ENST00000319481 human ensembl 69_37n -1 known missense c.2398 p.E800Q 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 594 0 0.00 266 103 27.76 - - - OTUB2 0 genome.wustl.edu 37 14 94505335 94505335 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 94505335 94505335 C T SNP OTUB2 ENST00000203664 human ensembl 69_37n +1 known silent c.126 p.I42 0.997 pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB2 HGNC ENSG00000089723 144 0 0.00 77 11 12.50 - - - OVCH1 0 genome.wustl.edu 37 12 29628064 29628064 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 29628064 29628064 C T SNP OVCH1 ENST00000318184 human ensembl 69_37n -1 known silent c.1530 p.V510 0.077 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,prints_Peptidase_S1A,pfscan_CUB,pfscan_Peptidase_S1_S6 - no_errors OVCH1 HGNC ENSG00000187950 169 0 0.00 46 15 24.59 - - - OVGP1 0 genome.wustl.edu 37 1 111957325 111957325 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 111957325 111957325 C T SNP OVGP1 ENST00000369732 human ensembl 69_37n -1 known missense c.1798 p.E600K 0.000 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 157 0 0.00 84 12 12.50 - - - P2RY8 0 genome.wustl.edu 37 X 1585257 1585257 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 1585257 1585257 C G SNP P2RY8 ENST00000381297 human ensembl 69_37n -1 known silent c.195 p.L65 0.995 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 119 0 0.00 59 9 13.24 - - - P4HA1 0 genome.wustl.edu 37 10 74831931 74831931 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 74831931 74831931 C G SNP P4HA1 ENST00000263556 human ensembl 69_37n -1 known missense c.181 p.E61Q 1.000 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA1 HGNC ENSG00000122884 259 0 0.00 99 23 18.85 - - - PACS2 0 genome.wustl.edu 37 14 105834825 105834825 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 105834825 105834825 G A SNP PACS2 ENST00000458164 human ensembl 69_37n +1 known silent c.690 p.G230 0.998 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 253 0 0.00 131 17 11.49 - - - PALB2 0 genome.wustl.edu 37 16 23614972 23614972 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 23614972 23614972 C T SNP PALB2 ENST00000261584 human ensembl 69_37n -1 known silent c.3369 p.V1123 0.972 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 98 0 0.00 52 11 17.46 - - - PALB2 0 genome.wustl.edu 37 16 23649225 23649225 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 23649225 23649225 C T SNP PALB2 ENST00000261584 human ensembl 69_37n -1 known missense c.157 p.E53K 0.010 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 459 0 0.00 236 58 19.73 - - - PALM2-AKAP2 0 genome.wustl.edu 37 9 112899931 112899931 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 112899931 112899931 G C SNP PALM2-AKAP2 ENST00000374530 human ensembl 69_37n +1 known missense c.2107 p.D703H 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 96 0 0.00 48 8 14.04 - - - PAMR1 0 genome.wustl.edu 37 11 35454436 35454436 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 35454436 35454436 G C SNP PAMR1 ENST00000278360 human ensembl 69_37n -1 known missense c.1682 p.S561C 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EGF-like,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PAMR1 HGNC ENSG00000149090 63 0 0.00 38 9 19.15 - - - PAPD4 0 genome.wustl.edu 37 5 78919257 78919257 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 78919257 78919257 G C SNP PAPD4 ENST00000296783 human ensembl 69_37n +1 known missense c.410 p.R137P 1.000 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 217 0 0.00 108 12 10.00 - - - PAPOLB 0 genome.wustl.edu 37 7 4901040 4901040 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 4901040 4901040 G A SNP PAPOLB ENST00000404991 human ensembl 69_37n -1 known silent c.399 p.F133 1.000 pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 216 0 0.00 116 14 10.77 - - - PAPPA2 0 genome.wustl.edu 37 1 176740264 176740264 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 176740264 176740264 G A SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known missense c.4663 p.E1555K 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 239 0 0.00 138 18 11.54 - - - PASD1 0 genome.wustl.edu 37 X 150789405 150789405 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 150789405 150789405 G A SNP PASD1 ENST00000370357 human ensembl 69_37n +1 known missense c.211 p.E71K 0.036 smart_PAS,pfscan_PAS smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 185 0 0.00 58 14 19.18 - - - PATE4 0 genome.wustl.edu 37 11 125708267 125708267 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 125708267 125708267 G C SNP PATE4 ENST00000457514 human ensembl 69_37n +1 known missense c.242 p.R81T 0.000 NULL NULL - no_errors PATE4 HGNC ENSG00000237353 155 0 0.00 53 13 19.70 - - - PBRM1 0 genome.wustl.edu 37 3 52637660 52637660 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 52637660 52637660 G C SNP PBRM1 ENST00000296302 human ensembl 69_37n -1 known missense c.2656 p.L886V 1.000 superfamily_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 208 0 0.00 95 15 13.51 - - - PCCA 0 genome.wustl.edu 37 13 101020767 101020767 + Nonsense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 101020767 101020767 C G SNP PCCA ENST00000376285 human ensembl 69_37n +1 known nonsense c.1685 p.S562* 0.224 NULL pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 360 0 0.00 190 25 11.63 - - - PCDHA11 0 genome.wustl.edu 37 5 140249093 140249093 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 140249093 140249093 C T SNP PCDHA11 ENST00000398640 human ensembl 69_37n +1 known silent c.405 p.L135 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 122 0 0.00 58 10 14.71 - - - PCDHGA4 0 genome.wustl.edu 37 5 140736007 140736007 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 140736007 140736007 G A SNP PCDHGA4 ENST00000571252 human ensembl 69_37n +1 known missense c.1240 p.E414K 0.942 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 PCDHGA4 HGNC ENSG00000262576 101 0 0.00 68 12 14.81 - - - PCLO 0 genome.wustl.edu 37 7 82545052 82545052 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 82545052 82545052 C T SNP PCLO ENST00000333891 human ensembl 69_37n -1 known missense c.12250 p.E4084K 0.999 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 197 0 0.00 41 25 37.88 - - - PCM1 0 genome.wustl.edu 37 8 17808216 17808216 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 17808216 17808216 C G SNP PCM1 ENST00000325083 human ensembl 69_37n +1 known missense c.1054 p.Q352E 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 192 0 0.00 121 18 12.95 - - - PCNXL2 0 genome.wustl.edu 37 1 233136210 233136210 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 233136210 233136210 C T SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known silent c.5169 p.K1723 0.998 pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 117 0 0.00 74 9 10.84 - - - PCSK1 0 genome.wustl.edu 37 5 95730639 95730639 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 95730639 95730639 G A SNP PCSK1 ENST00000311106 human ensembl 69_37n -1 known missense c.1813 p.R605C 0.925 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 429 0 0.00 205 31 13.14 - - - PCSK5 0 genome.wustl.edu 37 9 78790033 78790033 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 78790033 78790033 G C SNP PCSK5 ENST00000545128 human ensembl 69_37n +1 known missense c.1888 p.E630Q 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 136 0 0.00 65 14 17.50 - - - PDDC1 0 genome.wustl.edu 37 11 774048 774048 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 774048 774048 G C SNP PDDC1 ENST00000397472 human ensembl 69_37n -1 known silent c.207 p.L69 0.994 NULL pfam_ThiJ/PfpI - no_errors PDDC1 HGNC ENSG00000177225 79 0 0.00 35 9 20.45 - - - PDE3A 0 genome.wustl.edu 37 12 20766419 20766419 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 20766419 20766419 G A SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known missense c.1054 p.E352K 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 62 0 0.00 41 9 18.00 - - - PDIA3 0 genome.wustl.edu 37 15 44053674 44053674 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 44053674 44053674 C G SNP PDIA3 ENST00000300289 human ensembl 69_37n +1 known silent c.417 p.L139 0.896 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA3 HGNC ENSG00000167004 74 0 0.00 33 12 26.67 - - - PELI1 0 genome.wustl.edu 37 2 64322141 64322141 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 64322141 64322141 G A SNP PELI1 ENST00000358912 human ensembl 69_37n -1 known missense c.952 p.H318Y 1.000 pfam_Pellino pfam_Pellino - no_errors PELI1 HGNC ENSG00000197329 222 1 0.45 118 15 11.28 - - - PFN1 0 genome.wustl.edu 37 17 4849196 4849196 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 4849196 4849196 C T SNP PFN1 ENST00000225655 human ensembl 69_37n -1 known silent c.422 p.*141 1.000 NULL pfam_Profilin,superfamily_Profilin,smart_Profilin,prints_Profilin_mammal - no_errors PFN1 HGNC ENSG00000108518 146 1 0.68 68 11 13.92 - - - PGM2 0 genome.wustl.edu 37 4 37848851 37848851 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 37848851 37848851 G A SNP PGM2 ENST00000381967 human ensembl 69_37n +1 known missense c.1217 p.G406E 1.000 pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM2 HGNC ENSG00000169299 210 1 0.47 139 19 12.03 - - - PHAX 0 genome.wustl.edu 37 5 125944095 125944095 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 125944095 125944095 G A SNP PHAX ENST00000297540 human ensembl 69_37n +1 known silent c.750 p.V250 0.999 pfam_PHAX_RNA-binding_domain pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 291 0 0.00 146 28 16.09 - - - PHF19 0 genome.wustl.edu 37 9 123620360 123620360 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 123620360 123620360 G C SNP PHF19 ENST00000373896 human ensembl 69_37n -1 known silent c.1605 p.L535 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 167 0 0.00 95 14 12.84 - - - PHF19 0 genome.wustl.edu 37 9 123631514 123631514 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 123631514 123631514 G C SNP PHF19 ENST00000373896 human ensembl 69_37n -1 known missense c.560 p.S187W 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 31 0 0.00 17 4 19.05 - - - PHF20L1 0 genome.wustl.edu 37 8 133837548 133837548 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 133837548 133837548 G C SNP PHF20L1 ENST00000395386 human ensembl 69_37n +1 putative missense c.1676 p.R559T 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 37 0 0.00 24 5 17.24 - - - PHKA2 0 genome.wustl.edu 37 X 18911535 18911535 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 18911535 18911535 G C SNP PHKA2 ENST00000469485 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PHKA2 HGNC ENSG00000044446 73 0 0.00 22 13 37.14 - - - PIEZO1 0 genome.wustl.edu 37 16 88798808 88798808 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 88798808 88798808 C G SNP PIEZO1 ENST00000301015 human ensembl 69_37n -1 novel missense c.2926 p.D976H 1.000 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 10 0 0.00 8 9 52.94 - - - PIGB 0 genome.wustl.edu 37 15 55643018 55643018 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 55643018 55643018 G C SNP PIGB ENST00000164305 human ensembl 69_37n +1 known missense c.1245 p.M415I 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 257 0 0.00 103 22 17.60 - - - PIGT 0 genome.wustl.edu 37 20 44044963 44044963 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 44044963 44044963 C G SNP PIGT ENST00000279036 human ensembl 69_37n +1 known missense c.167 p.S56W 1.000 pfam_Gpi16 pfam_Gpi16 - no_errors PIGT HGNC ENSG00000124155 42 0 0.00 53 6 10.17 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 160 0 0.00 63 19 22.89 - - - PIK3R2 0 genome.wustl.edu 37 19 18273836 18273836 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 18273836 18273836 C T SNP PIK3R2 ENST00000222254 human ensembl 69_37n +1 known missense c.1169 p.S390L 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 138 0 0.00 77 17 18.09 - - - PIP5K1A 0 genome.wustl.edu 37 1 151214635 151214635 + Nonsense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 151214635 151214635 C G SNP PIP5K1A ENST00000368888 human ensembl 69_37n +1 known nonsense c.1400 p.S467* 0.978 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 138 0 0.00 106 14 11.67 - - - PLAG1 0 genome.wustl.edu 37 8 57079234 57079234 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 57079234 57079234 C G SNP PLAG1 ENST00000316981 human ensembl 69_37n -1 known missense c.1071 p.E357D 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 170 0 0.00 84 14 14.29 - - - PLBD1 0 genome.wustl.edu 37 12 14688648 14688648 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 14688648 14688648 G A SNP PLBD1 ENST00000240617 human ensembl 69_37n -1 known silent c.789 p.F263 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 240 0 0.00 168 23 12.04 - - - PLCXD3 0 genome.wustl.edu 37 5 41313815 41313815 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 41313815 41313815 G C SNP PLCXD3 ENST00000328457 human ensembl 69_37n -1 known missense c.870 p.I290M 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 141 0 0.00 102 14 12.07 - - - PLEKHA5 0 genome.wustl.edu 37 12 19422772 19422772 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 19422772 19422772 G T SNP PLEKHA5 ENST00000317589 human ensembl 69_37n +1 known missense c.780 p.M260I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC ENSG00000052126 155 0 0.00 93 14 13.08 - - - PLEKHM1P 0 genome.wustl.edu 37 17 62820979 62820979 + RNA SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 62820979 62820979 C T SNP PLEKHM1P ENST00000397718 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PLEKHM1P HGNC ENSG00000214176 84 0 0.00 85 10 10.42 - - - PLOD2 0 genome.wustl.edu 37 3 145794663 145794663 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 145794663 145794663 G C SNP PLOD2 ENST00000282903 human ensembl 69_37n -1 known missense c.1583 p.S528C 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 152 0 0.00 57 11 16.18 - - - PLXNA2 0 genome.wustl.edu 37 1 208213056 208213056 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 208213056 208213056 C T SNP PLXNA2 ENST00000367033 human ensembl 69_37n -1 known silent c.4410 p.E1470 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC ENSG00000076356 133 1 0.75 85 11 11.46 - - - PLXNC1 0 genome.wustl.edu 37 12 94697788 94697788 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 94697788 94697788 G C SNP PLXNC1 ENST00000258526 human ensembl 69_37n +1 known missense c.4563 p.L1521F 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC ENSG00000136040 82 0 0.00 43 7 14.00 - - - PMAIP1 0 genome.wustl.edu 37 18 57570023 57570023 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 57570023 57570023 G C SNP PMAIP1 ENST00000269518 human ensembl 69_37n +1 novel missense c.354 p.K118N 0.000 NULL NULL - no_errors PMAIP1 HGNC ENSG00000141682 87 0 0.00 45 15 25.00 - - - PNMA3 0 genome.wustl.edu 37 X 152226004 152226004 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 152226004 152226004 G A SNP PNMA3 ENST00000370264 human ensembl 69_37n +1 known missense c.592 p.E198K 0.005 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 57 0 0.00 40 6 12.50 - - - PNMA5 0 genome.wustl.edu 37 X 152159224 152159224 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 152159224 152159224 C G SNP PNMA5 ENST00000361887 human ensembl 69_37n -1 known missense c.919 p.E307Q 0.000 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 32 0 0.00 26 7 21.21 - - - POLE3 0 genome.wustl.edu 37 9 116171214 116171214 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 116171214 116171214 C T SNP POLE3 ENST00000374169 human ensembl 69_37n -1 known silent c.321 p.K107 1.000 superfamily_Histone-fold pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors POLE3 HGNC ENSG00000148229 975 0 0.00 571 85 12.94 - - - POLE3 0 genome.wustl.edu 37 9 116172141 116172141 + RNA SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 116172141 116172141 C T SNP POLE3 ENST00000479871 human ensembl 69_37n -1 known rna NULL NULL 0.013 - - - no_errors POLE3 HGNC ENSG00000148229 42 0 0.00 20 3 13.04 - - - POLR2D 0 genome.wustl.edu 37 2 128605740 128605740 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 128605740 128605740 C G SNP POLR2D ENST00000272645 human ensembl 69_37n -1 known missense c.370 p.D124H 1.000 pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors POLR2D HGNC ENSG00000144231 265 0 0.00 136 22 13.92 - - - PON2 0 genome.wustl.edu 37 7 95045539 95045539 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 95045539 95045539 G A SNP PON2 ENST00000469926 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PON2 HGNC ENSG00000105854 252 0 0.00 114 19 14.29 - - - PPFIA3 0 genome.wustl.edu 37 19 49652005 49652005 + Nonsense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 49652005 49652005 C T SNP PPFIA3 ENST00000334186 human ensembl 69_37n +1 known nonsense c.3094 p.Q1032* 1.000 superfamily_SAM/pointed pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 94 0 0.00 57 18 24.00 - - - PPFIBP1 0 genome.wustl.edu 37 12 27809661 27809661 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 27809661 27809661 G C SNP PPFIBP1 ENST00000318304 human ensembl 69_37n +1 known missense c.902 p.R301T 0.991 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 135 0 0.00 65 9 12.16 - - - PPFIBP2 0 genome.wustl.edu 37 11 7650743 7650743 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 7650743 7650743 G C SNP PPFIBP2 ENST00000299492 human ensembl 69_37n +1 known missense c.942 p.K314N 0.997 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 268 0 0.00 118 19 13.87 - - - PPM1L 0 genome.wustl.edu 37 3 160786886 160786886 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 160786886 160786886 G A SNP PPM1L ENST00000498165 human ensembl 69_37n +1 known missense c.1024 p.D342N 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1L HGNC ENSG00000163590 58 0 0.00 35 5 12.50 - - - PPM1M 0 genome.wustl.edu 37 3 52283691 52283691 + Nonsense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 52283691 52283691 C G SNP PPM1M ENST00000457351 human ensembl 69_37n +1 known nonsense c.1241 p.S414* 0.910 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1M HGNC ENSG00000164088 53 0 0.00 30 7 18.92 - - - PPP1R10 0 genome.wustl.edu 37 6 30574587 30574587 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 30574587 30574587 G A SNP PPP1R10 ENST00000376511 human ensembl 69_37n -1 known silent c.429 p.V143 0.991 pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 37 0 0.00 30 5 14.29 - - - PPP1R9B 0 genome.wustl.edu 37 17 48213557 48213557 + RNA SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 48213557 48213557 C G SNP PPP1R9B ENST00000316878 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PPP1R9B HGNC ENSG00000108819 124 0 0.00 90 12 11.76 - - - PPP6R1 0 genome.wustl.edu 37 19 55751015 55751015 + Nonsense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 55751015 55751015 C A SNP PPP6R1 ENST00000412770 human ensembl 69_37n -1 known nonsense c.1600 p.E534* 1.000 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 152 0 0.00 107 41 27.70 - - - PPT1 0 genome.wustl.edu 37 1 40542569 40542569 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 40542569 40542569 C T SNP PPT1 ENST00000433473 human ensembl 69_37n -1 known missense c.743 p.R248K 1.000 pfam_Palm_thioest,prints_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT1 HGNC ENSG00000131238 143 0 0.00 62 9 12.68 - - - PRDM15 0 genome.wustl.edu 37 21 43280475 43280475 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 21 43280475 43280475 C G SNP PRDM15 ENST00000269844 human ensembl 69_37n -1 known missense c.898 p.E300Q 0.116 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 125 0 0.00 63 21 25.00 - - - PRDM9 0 genome.wustl.edu 37 5 23521163 23521163 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 23521163 23521163 C G SNP PRDM9 ENST00000296682 human ensembl 69_37n +1 known missense c.383 p.S128C 0.001 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 225 0 0.00 141 64 31.22 - - - PRG2 0 genome.wustl.edu 37 11 57156626 57156626 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 57156626 57156626 C T SNP PRG2 ENST00000311862 human ensembl 69_37n -1 known missense c.223 p.E75K 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic - no_errors PRG2 HGNC ENSG00000186652 162 0 0.00 73 10 12.05 - - - PRKCA 0 genome.wustl.edu 37 17 64731637 64731637 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 64731637 64731637 G A SNP PRKCA ENST00000413366 human ensembl 69_37n +1 known missense c.1087 p.E363K 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 PRKCA HGNC ENSG00000154229 160 0 0.00 102 26 20.31 - - - PRMT2 0 genome.wustl.edu 37 21 48064220 48064220 + Silent SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 21 48064220 48064220 C A SNP PRMT2 ENST00000355680 human ensembl 69_37n +1 known silent c.147 p.L49 0.980 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 127 0 0.00 60 14 18.92 - - - PROX1 0 genome.wustl.edu 37 1 214170683 214170683 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 214170683 214170683 G C SNP PROX1 ENST00000261454 human ensembl 69_37n +1 known missense c.805 p.D269H 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 77 0 0.00 43 6 12.24 - - - PRPF4B 0 genome.wustl.edu 37 6 4032971 4032971 + Splice_Site SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 4032971 4032971 G C SNP PRPF4B ENST00000489943 human ensembl 69_37n +1 known splice_site c.NULL NULL 1.000 - - - no_errors PRPF4B HGNC ENSG00000112739 34 0 0.00 29 4 12.12 - - - PRR16 0 genome.wustl.edu 37 5 120021713 120021713 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 120021713 120021713 C G SNP PRR16 ENST00000407149 human ensembl 69_37n +1 known missense c.224 p.S75C 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 166 0 0.00 80 19 19.19 - - - PRUNE2 0 genome.wustl.edu 37 9 79324570 79324570 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 79324570 79324570 C T SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.1543 p.D515N 0.009 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 263 0 0.00 143 20 12.20 - - - PSD3 0 genome.wustl.edu 37 8 18729541 18729541 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 18729541 18729541 C G SNP PSD3 ENST00000440756 human ensembl 69_37n -1 known missense c.833 p.R278T 0.000 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD3 HGNC ENSG00000156011 75 0 0.00 36 4 10.00 - - - PSG7 0 genome.wustl.edu 37 19 43433868 43433868 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 43433868 43433868 C G SNP PSG7 ENST00000406070 human ensembl 69_37n -1 known missense c.435 p.E145D 0.000 NULL NULL - pseudogene PSG7 HGNC ENSG00000221878 357 0 0.00 251 37 12.85 - - - PSME4 0 genome.wustl.edu 37 2 54127040 54127040 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 54127040 54127040 C G SNP PSME4 ENST00000404125 human ensembl 69_37n -1 known missense c.3400 p.E1134Q 0.993 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 512 0 0.00 225 43 16.04 - - - PTPN13 0 genome.wustl.edu 37 4 87684080 87684080 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 87684080 87684080 G A SNP PTPN13 ENST00000436978 human ensembl 69_37n +1 known missense c.3754 p.E1252K 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 103 0 0.00 63 10 13.70 - - - PTPN22 0 genome.wustl.edu 37 1 114401701 114401701 + Splice_Site SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 114401701 114401701 C G SNP PTPN22 ENST00000359785 human ensembl 69_37n -1 known splice_site c.197-1 e3-1 1.000 - - - no_errors PTPN22 HGNC ENSG00000134242 205 0 0.00 121 39 24.38 - - - PTPN6 0 genome.wustl.edu 37 12 7069833 7069833 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 7069833 7069833 G C SNP PTPN6 ENST00000456013 human ensembl 69_37n +1 known missense c.1681 p.E561Q 0.000 pirsf_Tyr_Pase_non-rcpt_typ-6/11 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN6 HGNC ENSG00000111679 75 0 0.00 58 10 14.29 - - - PTPN7 0 genome.wustl.edu 37 1 202127408 202127408 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 202127408 202127408 C G SNP PTPN7 ENST00000435759 human ensembl 69_37n -1 novel missense c.163 p.D55H 1.000 NULL NULL - no_stop_codon PTPN7 HGNC ENSG00000143851 95 0 0.00 47 7 12.96 - - - QSER1 0 genome.wustl.edu 37 11 32990666 32990666 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 32990666 32990666 C A SNP QSER1 ENST00000399302 human ensembl 69_37n +1 known missense c.4795 p.L1599I 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 168 0 0.00 75 9 10.71 - - - R3HCC1L 0 genome.wustl.edu 37 10 99968876 99968876 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 99968876 99968876 G A SNP R3HCC1L ENST00000298999 human ensembl 69_37n +1 known silent c.1005 p.K335 0.062 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 107 0 0.00 53 7 11.67 - - - RAB11FIP1 0 genome.wustl.edu 37 8 37732380 37732380 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 37732380 37732380 C G SNP RAB11FIP1 ENST00000330843 human ensembl 69_37n -1 known missense c.1275 p.E425D 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 RAB11FIP1 HGNC ENSG00000156675 71 0 0.00 48 10 17.24 - - - RAB25 0 genome.wustl.edu 37 1 156039895 156039895 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 156039895 156039895 G C SNP RAB25 ENST00000487325 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors RAB25 HGNC ENSG00000132698 59 0 0.00 28 4 12.50 - - - RALBP1 0 genome.wustl.edu 37 18 9513245 9513245 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 9513245 9513245 C G SNP RALBP1 ENST00000019317 human ensembl 69_37n +1 known missense c.202 p.H68D 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 137 0 0.00 47 10 17.54 - - - RANBP17 0 genome.wustl.edu 37 5 170720958 170720958 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 170720958 170720958 C G SNP RANBP17 ENST00000523189 human ensembl 69_37n +1 known silent c.3015 p.L1005 1.000 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 202 0 0.00 123 19 13.38 - - - RAPGEF6 0 genome.wustl.edu 37 5 130764670 130764670 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 130764670 130764670 G C SNP RAPGEF6 ENST00000509018 human ensembl 69_37n -1 known missense c.4705 p.Q1569E 1.000 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 183 0 0.00 70 28 28.57 - - - RASA3 0 genome.wustl.edu 37 13 114766363 114766363 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 13 114766363 114766363 C T SNP RASA3 ENST00000334062 human ensembl 69_37n -1 known silent c.1788 p.K596 1.000 pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASA3 HGNC ENSG00000185989 200 0 0.00 98 17 14.78 - - - RASGRF1 0 genome.wustl.edu 37 15 79339279 79339279 + Nonsense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 79339279 79339279 G T SNP RASGRF1 ENST00000419573 human ensembl 69_37n -1 known nonsense c.687 p.Y229* 1.000 superfamily_DH-domain,pfscan_IQ_motif_EF-hand-BS pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 128 0 0.00 35 18 33.96 - - - RBBP8 0 genome.wustl.edu 37 18 20596816 20596816 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 20596816 20596816 C G SNP RBBP8 ENST00000327155 human ensembl 69_37n +1 known missense c.2383 p.H795D 1.000 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 312 0 0.00 155 25 13.89 - - - RBM47 0 genome.wustl.edu 37 4 40427930 40427930 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 40427930 40427930 C G SNP RBM47 ENST00000295971 human ensembl 69_37n -1 known missense c.1773 p.Q591H 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 115 0 0.00 70 24 25.53 - - - RBM47 0 genome.wustl.edu 37 4 40440508 40440508 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 40440508 40440508 C T SNP RBM47 ENST00000295971 human ensembl 69_37n -1 known missense c.403 p.E135K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 24 0 0.00 25 4 13.79 - - - REL 0 genome.wustl.edu 37 2 61145531 61145531 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 61145531 61145531 G C SNP REL ENST00000295025 human ensembl 69_37n +1 known missense c.643 p.D215H 1.000 superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC ENSG00000162924 165 0 0.00 65 10 13.33 - - - REM1 0 genome.wustl.edu 37 20 30064438 30064438 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 30064438 30064438 G C SNP REM1 ENST00000201979 human ensembl 69_37n +1 known missense c.190 p.D64H 0.001 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 183 0 0.00 79 21 21.00 - - - RFK 0 genome.wustl.edu 37 9 79002433 79002433 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 79002433 79002433 G A SNP RFK ENST00000376736 human ensembl 69_37n -1 known missense c.350 p.S117L 1.000 pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk pfam_Riboflavin_kinase_bac/euk,superfamily_Riboflavin_kinase_bac/euk,smart_Riboflavin_kinase_bac/euk - no_errors RFK HGNC ENSG00000135002 225 0 0.00 131 19 12.67 - - - RGAG1 0 genome.wustl.edu 37 X 109696097 109696097 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 109696097 109696097 C T SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.2252 p.S751F 0.698 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 229 0 0.00 131 21 13.82 - - - RGS9 0 genome.wustl.edu 37 17 63204106 63204106 + Nonsense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 63204106 63204106 C T SNP RGS9 ENST00000262406 human ensembl 69_37n +1 known nonsense c.1270 p.Q424* 1.000 NULL pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS9 HGNC ENSG00000108370 288 1 0.35 211 27 11.30 - - - RIC3 0 genome.wustl.edu 37 11 8132155 8132155 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 8132155 8132155 G A SNP RIC3 ENST00000530060 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors RIC3 HGNC ENSG00000166405 47 0 0.00 19 12 38.71 - - - RLIM 0 genome.wustl.edu 37 X 73812681 73812681 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 73812681 73812681 C G SNP RLIM ENST00000332687 human ensembl 69_37n -1 known missense c.469 p.E157Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 353 0 0.00 184 37 16.74 - - - RNA5SP22 0 genome.wustl.edu 37 1 78560569 78560569 + RNA SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 78560569 78560569 C T SNP RNA5SP22 ENST00000365393 human ensembl 69_37n -1 known rna NULL NULL 0.213 - - - no_errors RNA5SP22 HGNC ENSG00000202263 120 0 0.00 75 12 13.64 - - - RNASE6 0 genome.wustl.edu 37 14 21250297 21250297 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 21250297 21250297 G C SNP RNASE6 ENST00000304677 human ensembl 69_37n +1 known missense c.439 p.D147H 0.998 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE6 HGNC ENSG00000169413 87 0 0.00 54 7 11.48 - - - RNF123 0 genome.wustl.edu 37 3 49753337 49753337 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 49753337 49753337 C G SNP RNF123 ENST00000327697 human ensembl 69_37n +1 known missense c.3233 p.S1078W 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 159 0 0.00 78 18 18.75 - - - ROR2 0 genome.wustl.edu 37 9 94486102 94486102 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 94486102 94486102 C G SNP ROR2 ENST00000375708 human ensembl 69_37n -1 known missense c.2674 p.E892Q 0.814 pirsf_Tyr_kinase_rcpt_ROR pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors ROR2 HGNC ENSG00000169071 158 0 0.00 97 13 11.82 - - - RPAIN 0 genome.wustl.edu 37 17 5331402 5331402 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 5331402 5331402 G C SNP RPAIN ENST00000405578 human ensembl 69_37n +1 known missense c.501 p.L167F 1.000 NULL NULL - no_errors RPAIN HGNC ENSG00000129197 193 0 0.00 64 10 13.51 - - - RPGR 0 genome.wustl.edu 37 X 38146233 38146233 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 38146233 38146233 C G SNP RPGR ENST00000378505 human ensembl 69_37n -1 known missense c.2019 p.E673D 0.000 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 1052 0 0.00 380 172 31.16 - - - RPL19 0 genome.wustl.edu 37 17 37357542 37357542 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 37357542 37357542 G A SNP RPL19 ENST00000225430 human ensembl 69_37n +1 known missense c.82 p.E28K 1.000 pfam_Ribosomal_L19/L19e,superfamily_Ribosomal_L19/L19e pfam_Ribosomal_L19/L19e,superfamily_Ribosomal_L19/L19e - no_errors RPL19 HGNC ENSG00000108298 111 0 0.00 47 6 11.32 - - - RTKN2 0 genome.wustl.edu 37 10 63964638 63964638 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 63964638 63964638 G C SNP RTKN2 ENST00000373789 human ensembl 69_37n -1 known missense c.1164 p.F388L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 152 0 0.00 64 15 18.99 - - - RYR3 0 genome.wustl.edu 37 15 33945019 33945019 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 33945019 33945019 G C SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.4243 p.V1415L 0.079 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 214 0 0.00 98 16 14.04 - - - SAMD10 0 genome.wustl.edu 37 20 62608706 62608706 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 62608706 62608706 C T SNP SAMD10 ENST00000369886 human ensembl 69_37n -1 known missense c.145 p.E49K 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD10 HGNC ENSG00000130590 174 0 0.00 143 31 17.71 - - - SAMD8 0 genome.wustl.edu 37 10 76924411 76924411 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 76924411 76924411 G C SNP SAMD8 ENST00000372690 human ensembl 69_37n +1 known missense c.776 p.R259T 1.000 NULL pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC ENSG00000156671 446 0 0.00 204 35 14.64 - - - SATB1 0 genome.wustl.edu 37 3 18438718 18438718 + Missense_Mutation SNP T T A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 18438718 18438718 T A SNP SATB1 ENST00000338745 human ensembl 69_37n -1 known missense c.704 p.E235V 1.000 superfamily_Lambda_DNA-bd_dom pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 620 0 0.00 244 42 14.69 - - - SATB1 0 genome.wustl.edu 37 3 18438719 18438719 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 18438719 18438719 C G SNP SATB1 ENST00000338745 human ensembl 69_37n -1 known missense c.703 p.E235Q 1.000 superfamily_Lambda_DNA-bd_dom pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 612 0 0.00 239 41 14.64 - - - SATB1 0 genome.wustl.edu 37 3 18456713 18456713 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 18456713 18456713 C G SNP SATB1 ENST00000338745 human ensembl 69_37n -1 known missense c.529 p.E177Q 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 151 0 0.00 67 12 15.19 - - - SCARB1 0 genome.wustl.edu 37 12 125267281 125267281 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 125267281 125267281 G A SNP SCARB1 ENST00000261693 human ensembl 69_37n -1 known missense c.1478 p.S493F 0.994 NULL pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 170 0 0.00 99 11 10.00 - - - SCCPDH 0 genome.wustl.edu 37 1 246922379 246922379 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 246922379 246922379 C G SNP SCCPDH ENST00000366510 human ensembl 69_37n +1 known missense c.739 p.P247A 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 529 0 0.00 286 48 14.33 - - - SCIN 0 genome.wustl.edu 37 7 12668762 12668762 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 12668762 12668762 G C SNP SCIN ENST00000297029 human ensembl 69_37n +1 known missense c.1234 p.D412H 0.997 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors SCIN HGNC ENSG00000006747 325 0 0.00 170 19 10.05 - - - SCLY 0 genome.wustl.edu 37 2 238990391 238990391 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 238990391 238990391 G C SNP SCLY ENST00000254663 human ensembl 69_37n +1 known missense c.550 p.E184Q 0.999 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS - no_errors SCLY HGNC ENSG00000132330 140 0 0.00 49 13 20.97 - - - SCN2A 0 genome.wustl.edu 37 2 166172242 166172242 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 166172242 166172242 G C SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.1645 p.E549Q 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 40 0 0.00 10 3 23.08 - - - SCN5A 0 genome.wustl.edu 37 3 38646307 38646307 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 38646307 38646307 C G SNP SCN5A ENST00000333535 human ensembl 69_37n -1 known missense c.1431 p.K477N 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 414 0 0.00 160 30 15.71 - - - SDAD1 0 genome.wustl.edu 37 4 76898816 76898816 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 76898816 76898816 C T SNP SDAD1 ENST00000356260 human ensembl 69_37n -1 known missense c.388 p.D130N 1.000 superfamily_ARM-type_fold pfam_SDA1,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 221 1 0.45 121 42 25.77 - - - SDAD1P1 0 genome.wustl.edu 37 8 26237796 26237796 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 26237796 26237796 G C SNP SDAD1P1 ENST00000519902 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors SDAD1P1 HGNC ENSG00000228451 166 0 0.00 110 13 10.57 - - - SEC63 0 genome.wustl.edu 37 6 108225915 108225915 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 108225915 108225915 G C SNP SEC63 ENST00000369002 human ensembl 69_37n -1 known missense c.972 p.F324L 1.000 pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ARM-type_fold,smart_DnaJ_N,smart_Sec63-dom,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors SEC63 HGNC ENSG00000025796 208 0 0.00 106 18 14.52 - - - SEMA4G 0 genome.wustl.edu 37 10 102743096 102743096 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 102743096 102743096 C T SNP SEMA4G ENST00000210633 human ensembl 69_37n +1 known silent c.1740 p.L580 0.991 smart_Ig_sub,pfscan_Ig-like pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4G HGNC ENSG00000095539 84 0 0.00 58 10 14.71 - - - SENP2 0 genome.wustl.edu 37 3 185337233 185337233 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 185337233 185337233 C G SNP SENP2 ENST00000296257 human ensembl 69_37n +1 known silent c.1389 p.L463 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 167 0 0.00 96 12 11.11 - - - SESTD1 0 genome.wustl.edu 37 2 179981441 179981441 + Nonsense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 179981441 179981441 G A SNP SESTD1 ENST00000446758 human ensembl 69_37n -1 known nonsense c.538 p.R180* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SESTD1 HGNC ENSG00000187231 236 0 0.00 102 12 10.53 - - - SETX 0 genome.wustl.edu 37 9 135202958 135202958 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 135202958 135202958 G A SNP SETX ENST00000372169 human ensembl 69_37n -1 known silent c.4027 p.L1343 0.374 NULL NULL - no_errors SETX HGNC ENSG00000107290 185 0 0.00 105 14 11.76 - - - SFT2D1 0 genome.wustl.edu 37 6 166739592 166739592 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 166739592 166739592 G C SNP SFT2D1 ENST00000494682 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors SFT2D1 HGNC ENSG00000198818 111 0 0.00 95 11 10.38 - - - SGIP1 0 genome.wustl.edu 37 1 67206375 67206375 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 67206375 67206375 C T SNP SGIP1 ENST00000237247 human ensembl 69_37n +1 known missense c.2362 p.P788S 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 139 0 0.00 69 14 16.87 - - - SGOL2 0 genome.wustl.edu 37 2 201436072 201436072 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 201436072 201436072 G A SNP SGOL2 ENST00000357799 human ensembl 69_37n +1 known missense c.1003 p.E335K 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 53 0 0.00 23 11 32.35 - - - SH2D1A 0 genome.wustl.edu 37 X 123480597 123480597 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 123480597 123480597 G A SNP SH2D1A ENST00000371139 human ensembl 69_37n +1 known silent c.105 p.E35 1.000 pfam_SH2,smart_SH2,pirsf_SH2_prot_1A,prints_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pirsf_SH2_prot_1A,prints_SH2,pfscan_SH2 - no_errors SH2D1A HGNC ENSG00000183918 315 0 0.00 170 30 15.00 - - - SHANK3 0 genome.wustl.edu 37 22 51143274 51143274 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 22 51143274 51143274 G C SNP SHANK3 ENST00000262795 human ensembl 69_37n +1 known missense c.1928 p.G643A 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 123 0 0.00 75 13 14.77 - - - SKP1 0 genome.wustl.edu 37 5 133494205 133494205 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 133494205 133494205 C G SNP SKP1 ENST00000353411 human ensembl 69_37n -1 known missense c.397 p.E133Q 1.000 pfam_Skp1_comp_dimer,superfamily_Skp1_comp_dimer,pirsf_E3_ubiquit_lig_SCF_Skp pfam_Skp1_comp_dimer,pfam_Skp1_comp_POZ,superfamily_Skp1_comp_dimer,superfamily_BTB/POZ_fold,smart_Skp1_comp,pirsf_E3_ubiquit_lig_SCF_Skp - no_errors SKP1 HGNC ENSG00000113558 309 0 0.00 108 44 28.95 - - - SLAMF1 0 genome.wustl.edu 37 1 160604688 160604688 + Splice_Site SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 160604688 160604688 C T SNP SLAMF1 ENST00000302035 human ensembl 69_37n -1 known splice_site c.416-1 e3-1 1.000 - - - no_errors SLAMF1 HGNC ENSG00000117090 160 0 0.00 71 9 11.25 - - - SLC13A2 0 genome.wustl.edu 37 17 26821435 26821435 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 26821435 26821435 C T SNP SLC13A2 ENST00000444914 human ensembl 69_37n +1 known missense c.1360 p.L454F 0.469 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 221 0 0.00 125 25 16.56 - - - SLC22A5 0 genome.wustl.edu 37 5 131721159 131721159 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 131721159 131721159 G A SNP SLC22A5 ENST00000448810 human ensembl 69_37n +1 known missense c.140 p.R47Q 0.002 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SLC22A5 HGNC ENSG00000197375 385 0 0.00 200 29 12.50 - - - SLC24A6 0 genome.wustl.edu 37 12 113748067 113748067 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 113748067 113748067 G C SNP SLC24A6 ENST00000202831 human ensembl 69_37n -1 known missense c.1229 p.S410C 0.900 NULL pfam_NaCa_Exmemb - no_errors SLC24A6 HGNC ENSG00000089060 56 0 0.00 41 10 19.61 - - - SLC25A12 0 genome.wustl.edu 37 2 172683316 172683316 + Nonsense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 172683316 172683316 G A SNP SLC25A12 ENST00000422440 human ensembl 69_37n -1 known nonsense c.922 p.Q308* 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 182 0 0.00 78 11 12.36 - - - SLC2A13 0 genome.wustl.edu 37 12 40153856 40153856 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 40153856 40153856 G C SNP SLC2A13 ENST00000280871 human ensembl 69_37n -1 known missense c.1919 p.S640C 1.000 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 316 0 0.00 153 25 14.04 - - - SLC38A10 0 genome.wustl.edu 37 17 79262575 79262575 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 79262575 79262575 G A SNP SLC38A10 ENST00000540233 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors SLC38A10 HGNC ENSG00000157637 17 0 0.00 7 3 30.00 - - - SLC39A6 0 genome.wustl.edu 37 18 33691198 33691198 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 33691198 33691198 G A SNP SLC39A6 ENST00000269187 human ensembl 69_37n -1 known silent c.1939 p.L647 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 118 0 0.00 68 13 16.05 - - - SLC41A1 0 genome.wustl.edu 37 1 205779621 205779621 + RNA SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 205779621 205779621 C T SNP SLC41A1 ENST00000484000 human ensembl 69_37n -1 known rna NULL NULL 0.946 - - - no_errors SLC41A1 HGNC ENSG00000133065 41 0 0.00 25 5 16.67 - - - SLC5A5 0 genome.wustl.edu 37 19 17983261 17983261 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 17983261 17983261 G A SNP SLC5A5 ENST00000222248 human ensembl 69_37n +1 known missense c.133 p.E45K 0.990 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 43 0 0.00 10 8 44.44 - - - SLC6A17 0 genome.wustl.edu 37 1 110737302 110737302 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 110737302 110737302 C T SNP SLC6A17 ENST00000331565 human ensembl 69_37n +1 known silent c.1401 p.I467 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 137 0 0.00 80 10 11.11 - - - SLC8A2 0 genome.wustl.edu 37 19 47940726 47940726 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 47940726 47940726 C T SNP SLC8A2 ENST00000236877 human ensembl 69_37n -1 known silent c.2103 p.V701 1.000 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 482 1 0.21 315 37 10.51 - - - SLC8A3 0 genome.wustl.edu 37 14 70634612 70634612 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 70634612 70634612 G A SNP SLC8A3 ENST00000381269 human ensembl 69_37n -1 known silent c.528 p.F176 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 103 0 0.00 73 13 15.12 - - - SLC9A9 0 genome.wustl.edu 37 3 143185984 143185984 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 143185984 143185984 G A SNP SLC9A9 ENST00000316549 human ensembl 69_37n -1 known missense c.1364 p.S455F 0.998 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 259 0 0.00 128 18 12.33 - - - SMARCA5 0 genome.wustl.edu 37 4 144457714 144457714 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 144457714 144457714 C T SNP SMARCA5 ENST00000283131 human ensembl 69_37n +1 known missense c.1378 p.P460S 1.000 pfam_SNF2_N,pfam_HDA_complex_subunit-2/3 pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 208 0 0.00 104 14 11.86 - - - SMARCB1 0 genome.wustl.edu 37 22 24129447 24129447 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 22 24129447 24129447 G A SNP SMARCB1 ENST00000263121 human ensembl 69_37n +1 known missense c.91 p.E31K 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 22 0 0.00 9 7 43.75 - - - SMC2 0 genome.wustl.edu 37 9 106877035 106877035 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 106877035 106877035 G C SNP SMC2 ENST00000286398 human ensembl 69_37n +1 known silent c.1596 p.V532 0.997 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 - no_errors SMC2 HGNC ENSG00000136824 329 0 0.00 167 42 20.10 - - - SMC3 0 genome.wustl.edu 37 10 112340694 112340694 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 112340694 112340694 G C SNP SMC3 ENST00000361804 human ensembl 69_37n +1 known missense c.462 p.Q154H 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 159 0 0.00 74 14 15.91 - - - SMTNL2 0 genome.wustl.edu 37 17 4496467 4496467 + Splice_Site SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 4496467 4496467 G T SNP SMTNL2 ENST00000389313 human ensembl 69_37n +1 known splice_site c.730+1 e3+1 0.999 - - - no_errors SMTNL2 HGNC ENSG00000188176 49 0 0.00 23 8 25.81 - - - SMYD5 0 genome.wustl.edu 37 2 73451124 73451124 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 73451124 73451124 G A SNP SMYD5 ENST00000389501 human ensembl 69_37n +1 known silent c.933 p.Q311 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 421 0 0.00 145 42 22.34 - - - SMYD5 0 genome.wustl.edu 37 2 73452827 73452827 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 73452827 73452827 C T SNP SMYD5 ENST00000389501 human ensembl 69_37n +1 known silent c.1104 p.L368 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 168 0 0.00 79 16 16.84 - - - SORT1 0 genome.wustl.edu 37 1 109896991 109896991 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 109896991 109896991 C T SNP SORT1 ENST00000256637 human ensembl 69_37n -1 known missense c.706 p.E236K 1.000 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 183 0 0.00 94 11 10.48 - - - SP140 0 genome.wustl.edu 37 2 231155266 231155266 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 231155266 231155266 G T SNP SP140 ENST00000392045 human ensembl 69_37n +1 known missense c.1812 p.K604N 0.358 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 484 0 0.00 226 34 13.08 - - - SPAG8 0 genome.wustl.edu 37 9 35810295 35810295 + Nonsense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 35810295 35810295 G T SNP SPAG8 ENST00000340291 human ensembl 69_37n -1 known nonsense c.1212 p.Y404* 0.959 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 225 0 0.00 143 18 11.18 - - - SPATA6 0 genome.wustl.edu 37 1 48877186 48877186 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 48877186 48877186 G T SNP SPATA6 ENST00000371847 human ensembl 69_37n -1 known missense c.355 p.H119N 1.000 NULL NULL - no_errors SPATA6 HGNC ENSG00000132122 180 0 0.00 76 23 23.23 - - - SPEF2 0 genome.wustl.edu 37 5 35763751 35763751 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 35763751 35763751 G A SNP SPEF2 ENST00000356031 human ensembl 69_37n +1 known missense c.3748 p.E1250K 1.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 249 0 0.00 109 58 34.73 - - - SPRED1 0 genome.wustl.edu 37 15 38614607 38614607 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 38614607 38614607 C G SNP SPRED1 ENST00000299084 human ensembl 69_37n +1 known missense c.373 p.Q125E 1.000 NULL pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1 - no_errors SPRED1 HGNC ENSG00000166068 306 0 0.00 110 21 16.03 - - - SPTLC1 0 genome.wustl.edu 37 9 94871025 94871025 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 94871025 94871025 G A SNP SPTLC1 ENST00000262554 human ensembl 69_37n -1 known missense c.257 p.S86L 1.000 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC ENSG00000090054 106 0 0.00 69 13 15.85 - - - SRGAP2 0 genome.wustl.edu 37 1 206603567 206603567 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 206603567 206603567 G C SNP SRGAP2 ENST00000295713 human ensembl 69_37n +1 known missense c.1290 p.Q430H 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SRGAP2 HGNC ENSG00000163486 217 0 0.00 126 20 13.70 - - - ST6GALNAC5 0 genome.wustl.edu 37 1 77509966 77509966 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 77509966 77509966 G C SNP ST6GALNAC5 ENST00000477717 human ensembl 69_37n +1 known missense c.339 p.Q113H 0.972 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 29 0 0.00 20 4 16.67 - - - STARD9 0 genome.wustl.edu 37 15 42982015 42982015 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 42982015 42982015 C G SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known missense c.8239 p.Q2747E 0.015 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 80 0 0.00 30 9 23.08 - - - STXBP3 0 genome.wustl.edu 37 1 109336203 109336203 + Splice_Site SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 109336203 109336203 G C SNP STXBP3 ENST00000370008 human ensembl 69_37n +1 known splice_site c.964-1 e12-1 1.000 - - - no_errors STXBP3 HGNC ENSG00000116266 236 0 0.00 113 30 20.98 - - - SUPT16H 0 genome.wustl.edu 37 14 21831012 21831012 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 21831012 21831012 C T SNP SUPT16H ENST00000216297 human ensembl 69_37n -1 known missense c.1606 p.E536K 1.000 pfam_FACT_Spt16p pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 216 0 0.00 132 36 21.43 - - - SUPT16H 0 genome.wustl.edu 37 14 21833277 21833277 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 21833277 21833277 C T SNP SUPT16H ENST00000216297 human ensembl 69_37n -1 known missense c.1072 p.E358K 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain - no_errors SUPT16H HGNC ENSG00000092201 328 0 0.00 171 53 23.66 - - - SWT1 0 genome.wustl.edu 37 1 185144036 185144036 + Frame_Shift_Del DEL T T - TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 185144036 185144036 T - DEL SWT1 ENST00000367500 human ensembl 69_37n +1 known frame_shift_del c.757 p.F253fs 0.148 NULL smart_PINc_nuc-bd - no_errors SWT1 HGNC ENSG00000116668 38 0 0.00 11 2 15.38 - - - SYNE2 0 genome.wustl.edu 37 14 64599109 64599109 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 64599109 64599109 G C SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.14467 p.E4823Q 0.997 NULL 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 189 0 0.00 102 15 12.82 - - - SYTL4 0 genome.wustl.edu 37 X 99931013 99931013 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 99931013 99931013 G A SNP SYTL4 ENST00000491602 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SYTL4 HGNC ENSG00000102362 152 0 0.00 77 14 15.38 - - - SZT2 0 genome.wustl.edu 37 1 43896998 43896998 + Nonsense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 43896998 43896998 C G SNP SZT2 ENST00000562955 human ensembl 69_37n +1 known nonsense c.4808 p.S1603* 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 137 0 0.00 67 15 18.29 - - - TACR2 0 genome.wustl.edu 37 10 71164725 71164725 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 71164725 71164725 G A SNP TACR2 ENST00000373306 human ensembl 69_37n -1 known missense c.1054 p.H352Y 1.000 prints_NK2_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors TACR2 HGNC ENSG00000075073 235 0 0.00 137 16 10.46 - - - TACR3 0 genome.wustl.edu 37 4 104577395 104577395 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 104577395 104577395 C G SNP TACR3 ENST00000304883 human ensembl 69_37n -1 known missense c.844 p.D282H 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK3_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 180 1 0.55 77 37 31.90 - - - TANC2 0 genome.wustl.edu 37 17 61473154 61473154 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 61473154 61473154 C G SNP TANC2 ENST00000583356 human ensembl 69_37n +1 putative missense c.2666 p.S889C 0.985 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - pseudogene:no_stop_codon:bad_bp_length_for_coding_region TANC2 HGNC ENSG00000170921 365 0 0.00 302 40 11.70 - - - TARBP1 0 genome.wustl.edu 37 1 234527427 234527427 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 234527427 234527427 G C SNP TARBP1 ENST00000040877 human ensembl 69_37n -1 known missense c.4762 p.Q1588E 1.000 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 75 0 0.00 36 5 12.20 - - - TARBP2 0 genome.wustl.edu 37 12 53895905 53895905 + Nonsense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 53895905 53895905 G T SNP TARBP2 ENST00000266987 human ensembl 69_37n +1 known nonsense c.160 p.E54* 1.000 pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors TARBP2 HGNC ENSG00000139546 106 0 0.00 75 12 13.79 - - - TBC1D15 0 genome.wustl.edu 37 12 72274279 72274279 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 72274279 72274279 G T SNP TBC1D15 ENST00000550746 human ensembl 69_37n +1 known missense c.235 p.A79S 0.981 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 90 0 0.00 32 10 23.81 - - - TBX21 0 genome.wustl.edu 37 17 45820054 45820054 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 45820054 45820054 C T SNP TBX21 ENST00000177694 human ensembl 69_37n +1 known silent c.570 p.V190 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX21 HGNC ENSG00000073861 126 0 0.00 72 8 10.00 - - - TCF3 0 genome.wustl.edu 37 19 1615708 1615708 + Nonstop_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 1615708 1615708 C G SNP TCF3 ENST00000593064 human ensembl 69_37n -1 known nonstop c.212 p.*71S 0.814 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TCF3 HGNC ENSG00000071564 86 0 0.00 26 7 21.21 - - - TEP1 0 genome.wustl.edu 37 14 20848488 20848488 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 20848488 20848488 G C SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known missense c.4909 p.L1637V 0.091 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 407 0 0.00 228 31 11.97 - - - TET1 0 genome.wustl.edu 37 10 70332972 70332972 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 70332972 70332972 G A SNP TET1 ENST00000373644 human ensembl 69_37n +1 known missense c.877 p.E293K 0.041 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 66 0 0.00 24 3 11.11 - - - TET3 0 genome.wustl.edu 37 2 74275429 74275429 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 74275429 74275429 C G SNP TET3 ENST00000409262 human ensembl 69_37n +1 known silent c.1980 p.L660 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 102 0 0.00 56 10 15.15 - - - TEX15 0 genome.wustl.edu 37 8 30705231 30705231 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 30705231 30705231 C T SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.1303 p.E435K 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 353 0 0.00 186 29 13.49 - - - THEMIS 0 genome.wustl.edu 37 6 128150651 128150651 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 128150651 128150651 G C SNP THEMIS ENST00000543064 human ensembl 69_37n -1 known missense c.679 p.P227A 1.000 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 283 0 0.00 148 18 10.78 - - - THPO 0 genome.wustl.edu 37 3 184091276 184091276 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 184091276 184091276 G A SNP THPO ENST00000204615 human ensembl 69_37n -1 known missense c.323 p.S108L 0.975 pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 108 0 0.00 48 12 20.00 - - - TIPARP 0 genome.wustl.edu 37 3 156396104 156396104 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 156396104 156396104 G A SNP TIPARP ENST00000295924 human ensembl 69_37n +1 known silent c.618 p.L206 0.990 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 173 0 0.00 111 13 10.40 - - - TLK1 0 genome.wustl.edu 37 2 171867908 171867908 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 171867908 171867908 C G SNP TLK1 ENST00000431350 human ensembl 69_37n -1 known missense c.1391 p.R464T 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 TLK1 HGNC ENSG00000198586 287 0 0.00 116 14 10.77 - - - TLR3 0 genome.wustl.edu 37 4 186998036 186998036 + Nonsense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 186998036 186998036 C G SNP TLR3 ENST00000296795 human ensembl 69_37n +1 known nonsense c.263 p.S88* 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 238 0 0.00 122 20 14.08 - - - TLR8-AS1 0 genome.wustl.edu 37 X 12921373 12921373 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 12921373 12921373 G A SNP TLR8-AS1 ENST00000451564 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TLR8-AS1 HGNC ENSG00000233338 13 0 0.00 5 5 50.00 - - - TM4SF19-AS1 0 genome.wustl.edu 37 3 196050627 196050627 + Splice_Site SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 196050627 196050627 G C SNP TM4SF19-AS1 ENST00000444939 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.002 - - - no_errors TM4SF19-AS1 HGNC ENSG00000235897 44 0 0.00 32 4 11.11 - - - TM9SF1 0 genome.wustl.edu 37 14 24680890 24680890 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 24680890 24680890 C G SNP TM9SF1 ENST00000556387 human ensembl 69_37n -1 known missense c.177 p.K59N 1.000 pfam_Snf7 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 564 0 0.00 324 42 11.44 - - - TMEM131 0 genome.wustl.edu 37 2 98428930 98428930 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 98428930 98428930 G A SNP TMEM131 ENST00000186436 human ensembl 69_37n -1 known missense c.1817 p.S606L 0.947 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 284 0 0.00 101 17 14.41 - - - TMEM132B 0 genome.wustl.edu 37 12 126137037 126137037 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 126137037 126137037 C G SNP TMEM132B ENST00000299308 human ensembl 69_37n +1 known silent c.1950 p.V650 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 91 0 0.00 55 7 11.29 - - - TMEM181 0 genome.wustl.edu 37 6 159010742 159010742 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 159010742 159010742 G C SNP TMEM181 ENST00000367090 human ensembl 69_37n +1 known silent c.831 p.L277 1.000 NULL NULL - no_errors TMEM181 HGNC ENSG00000146433 307 0 0.00 209 31 12.92 - - - TMEM247 0 genome.wustl.edu 37 2 46707884 46707884 + Missense_Mutation SNP A A G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 46707884 46707884 A G SNP TMEM247 ENST00000434431 human ensembl 69_37n +1 known missense c.458 p.Q153R 0.238 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region TMEM247 HGNC ENSG00000187600 28 0 0.00 18 5 21.74 - - - TMEM247 0 genome.wustl.edu 37 2 46707885 46707885 + Silent SNP A A G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 46707885 46707885 A G SNP TMEM247 ENST00000434431 human ensembl 69_37n +1 known silent c.459 p.Q153 0.091 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region TMEM247 HGNC ENSG00000187600 32 0 0.00 19 5 20.83 - - - TMEM55A 0 genome.wustl.edu 37 8 92008895 92008895 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 92008895 92008895 C G SNP TMEM55A ENST00000285419 human ensembl 69_37n -1 known missense c.617 p.G206A 0.999 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55A HGNC ENSG00000155099 185 0 0.00 97 12 11.01 - - - TMEM63C 0 genome.wustl.edu 37 14 77719719 77719719 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 77719719 77719719 C T SNP TMEM63C ENST00000298351 human ensembl 69_37n +1 known silent c.2220 p.L740 0.995 NULL pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 79 0 0.00 51 9 15.00 - - - TMEM86A 0 genome.wustl.edu 37 11 18723509 18723509 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 18723509 18723509 G A SNP TMEM86A ENST00000280734 human ensembl 69_37n +1 known missense c.676 p.E226K 1.000 NULL pfam_YhhN - no_errors TMEM86A HGNC ENSG00000151117 114 0 0.00 75 10 11.76 - - - TMTC3 0 genome.wustl.edu 37 12 88570062 88570062 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 88570062 88570062 G C SNP TMTC3 ENST00000266712 human ensembl 69_37n +1 known missense c.1398 p.L466F 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 213 0 0.00 102 18 15.00 - - - TNRC18 0 genome.wustl.edu 37 7 5363881 5363881 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 5363881 5363881 G A SNP TNRC18 ENST00000399537 human ensembl 69_37n -1 known missense c.6406 p.P2136S 0.990 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 93 0 0.00 71 18 20.00 - - - TNRC6A 0 genome.wustl.edu 37 16 24820700 24820700 + Nonsense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 24820700 24820700 G A SNP TNRC6A ENST00000569376 human ensembl 69_37n +1 known nonsense c.96 p.W32* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TNRC6A HGNC ENSG00000090905 93 0 0.00 55 8 12.70 - - - TP53BP1 0 genome.wustl.edu 37 15 43748887 43748887 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 43748887 43748887 G A SNP TP53BP1 ENST00000382044 human ensembl 69_37n -1 known missense c.1919 p.S640F 0.952 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 149 0 0.00 59 9 13.24 - - - TP53I3 0 genome.wustl.edu 37 2 24305887 24305887 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 24305887 24305887 C T SNP TP53I3 ENST00000238721 human ensembl 69_37n -1 known missense c.274 p.G92S 0.902 superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3 pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3 - no_errors TP53I3 HGNC ENSG00000115129 44 0 0.00 27 8 22.86 - - - TPR 0 genome.wustl.edu 37 1 186286710 186286710 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 186286710 186286710 C G SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.6844 p.E2282Q 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 150 0 0.00 68 10 12.66 - - - TPR 0 genome.wustl.edu 37 1 186307222 186307222 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 186307222 186307222 C G SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.4305 p.K1435N 1.000 superfamily_tRNA-bd_arm pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 509 0 0.00 245 36 12.77 - - - TPX2 0 genome.wustl.edu 37 20 30363692 30363692 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 30363692 30363692 G A SNP TPX2 ENST00000340513 human ensembl 69_37n +1 known missense c.631 p.E211K 1.000 NULL pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot - no_errors TPX2 HGNC ENSG00000088325 305 0 0.00 132 18 12.00 - - - TRAPPC11 0 genome.wustl.edu 37 4 184587551 184587551 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 184587551 184587551 G A SNP TRAPPC11 ENST00000334690 human ensembl 69_37n +1 known missense c.346 p.E116K 1.000 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 131 1 0.76 86 12 12.24 - - - TRAV26-2 0 genome.wustl.edu 37 14 22671189 22671189 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 14 22671189 22671189 G A SNP TRAV26-2 ENST00000390460 human ensembl 69_37n +1 known missense c.254 p.R85K 1.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon TRAV26-2 HGNC ENSG00000211812 162 0 0.00 66 13 16.46 - - - TRH 0 genome.wustl.edu 37 3 129694818 129694818 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 129694818 129694818 C G SNP TRH ENST00000302649 human ensembl 69_37n +1 known silent c.159 p.L53 0.768 pfam_TRH,pirsf_TRH pfam_TRH,pirsf_TRH - no_errors TRH HGNC ENSG00000170893 39 0 0.00 21 5 19.23 - - - TRIM49 0 genome.wustl.edu 37 11 89531369 89531369 + Missense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 89531369 89531369 G T SNP TRIM49 ENST00000329758 human ensembl 69_37n -1 known missense c.1288 p.L430I 0.006 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49 HGNC ENSG00000168930 85 0 0.00 46 6 11.54 - - - TRPS1 0 genome.wustl.edu 37 8 116616177 116616177 + Nonsense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 116616177 116616177 G C SNP TRPS1 ENST00000517323 human ensembl 69_37n -1 known nonsense c.1382 p.S461* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRPS1 HGNC ENSG00000104447 311 0 0.00 226 55 19.57 - - - TRPS1 0 genome.wustl.edu 37 8 116631536 116631536 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 116631536 116631536 C T SNP TRPS1 ENST00000517323 human ensembl 69_37n -1 known missense c.752 p.C251Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRPS1 HGNC ENSG00000104447 156 0 0.00 123 31 20.13 - - - TSC2 0 genome.wustl.edu 37 16 2106207 2106207 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 2106207 2106207 C G SNP TSC2 ENST00000219476 human ensembl 69_37n +1 known missense c.610 p.L204V 1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,prints_Tuberin,pfscan_Rap_GAP - no_errors TSC2 HGNC ENSG00000103197 81 0 0.00 51 8 13.56 - - - TSEN34 0 genome.wustl.edu 37 19 54695751 54695751 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 54695751 54695751 G C SNP TSEN34 ENST00000429671 human ensembl 69_37n +1 known silent c.423 p.S141 0.105 pirsf_tRNA_splic_SEN34 pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic - no_errors TSEN34 HGNC ENSG00000170892 60 0 0.00 35 5 12.50 - - - TSNAXIP1 0 genome.wustl.edu 37 16 67854843 67854843 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 67854843 67854843 G A SNP TSNAXIP1 ENST00000388833 human ensembl 69_37n +1 known silent c.87 p.R29 0.006 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 75 0 0.00 41 9 18.00 - - - TSPAN2 0 genome.wustl.edu 37 1 115593133 115593133 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 115593133 115593133 C T SNP TSPAN2 ENST00000369516 human ensembl 69_37n -1 known missense c.644 p.R215Q 1.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN2 HGNC ENSG00000134198 274 0 0.00 142 21 12.88 - - - TTC19 0 genome.wustl.edu 37 17 15909837 15909837 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 15909837 15909837 G C SNP TTC19 ENST00000261647 human ensembl 69_37n +1 novel missense c.994 p.E332Q 0.978 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC19 HGNC ENSG00000011295 247 0 0.00 102 25 19.69 - - - TTC21A 0 genome.wustl.edu 37 3 39179860 39179860 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 39179860 39179860 C A SNP TTC21A ENST00000301819 human ensembl 69_37n +1 known missense c.3802 p.H1268N 0.998 pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 146 0 0.00 59 21 26.25 - - - TTC25 0 genome.wustl.edu 37 17 40117254 40117254 + RNA SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 40117254 40117254 C G SNP TTC25 ENST00000377540 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors TTC25 HGNC ENSG00000204815 133 0 0.00 38 9 19.15 - - - TTC3 0 genome.wustl.edu 37 21 38538681 38538681 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 21 38538681 38538681 C T SNP TTC3 ENST00000354749 human ensembl 69_37n +1 known missense c.4165 p.H1389Y 0.001 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 226 0 0.00 141 16 10.19 - - - TTC39A 0 genome.wustl.edu 37 1 51770779 51770779 + Nonsense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 51770779 51770779 C A SNP TTC39A ENST00000447632 human ensembl 69_37n -1 known nonsense c.736 p.E246* 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 126 0 0.00 102 13 11.30 - - - TTC39C 0 genome.wustl.edu 37 18 21663021 21663021 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 21663021 21663021 C G SNP TTC39C ENST00000317571 human ensembl 69_37n +1 known missense c.960 p.F320L 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor - no_errors TTC39C HGNC ENSG00000168234 222 0 0.00 101 14 12.17 - - - TTF2 0 genome.wustl.edu 37 1 117624493 117624493 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 117624493 117624493 C T SNP TTF2 ENST00000369466 human ensembl 69_37n +1 known silent c.1827 p.L609 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 251 0 0.00 125 22 14.97 - - - TTN 0 genome.wustl.edu 37 2 179455523 179455523 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 179455523 179455523 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.53225 p.R17742H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 164 0 0.00 90 12 11.65 - - - TTPAL 0 genome.wustl.edu 37 20 43108995 43108995 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 20 43108995 43108995 C T SNP TTPAL ENST00000262605 human ensembl 69_37n +1 known missense c.356 p.S119L 0.990 superfamily_CRAL/TRIO_N_dom,pfscan_CRAL-TRIO_dom 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 44 0 0.00 28 8 21.62 - - - TUBA4A 0 genome.wustl.edu 37 2 220115764 220115764 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 220115764 220115764 G A SNP TUBA4A ENST00000248437 human ensembl 69_37n -1 known silent c.657 p.I219 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Beta_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA4A HGNC ENSG00000127824 300 0 0.00 147 54 26.87 - - - TUBGCP2 0 genome.wustl.edu 37 10 135106140 135106140 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 135106140 135106140 G A SNP TUBGCP2 ENST00000543663 human ensembl 69_37n -1 known silent c.1161 p.L387 0.822 pfam_Spc97_Spc98 pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 133 0 0.00 67 15 18.29 - - - UBAP1 0 genome.wustl.edu 37 9 34241549 34241549 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 34241549 34241549 G A SNP UBAP1 ENST00000545103 human ensembl 69_37n +1 known missense c.718 p.E240K 1.000 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 229 0 0.00 140 20 12.50 - - - UBR5 0 genome.wustl.edu 37 8 103284937 103284937 + Nonsense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 103284937 103284937 G A SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known nonsense c.6793 p.R2265* 0.993 superfamily_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 130 0 0.00 87 10 10.31 - - - UHRF1BP1 0 genome.wustl.edu 37 6 34831948 34831948 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 34831948 34831948 G A SNP UHRF1BP1 ENST00000192788 human ensembl 69_37n +1 known missense c.3385 p.D1129N 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 167 0 0.00 108 14 11.48 - - - ULK3 0 genome.wustl.edu 37 15 75133824 75133824 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 75133824 75133824 G C SNP ULK3 ENST00000440863 human ensembl 69_37n -1 known missense c.391 p.R131G 0.992 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_cat_dom - no_errors ULK3 HGNC ENSG00000140474 259 0 0.00 87 16 15.53 - - - USP32 0 genome.wustl.edu 37 17 58256660 58256660 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 58256660 58256660 C T SNP USP32 ENST00000300896 human ensembl 69_37n -1 known missense c.4771 p.E1591K 1.000 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 324 0 0.00 176 24 12.00 - - - USP39 0 genome.wustl.edu 37 2 85852772 85852772 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 2 85852772 85852772 G C SNP USP39 ENST00000409470 human ensembl 69_37n +1 known silent c.681 p.L227 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP39 HGNC ENSG00000168883 176 0 0.00 112 13 10.40 - - - USP45 0 genome.wustl.edu 37 6 99885230 99885230 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 99885230 99885230 C G SNP USP45 ENST00000327681 human ensembl 69_37n -1 known missense c.2206 p.V736L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP45 HGNC ENSG00000123552 307 0 0.00 177 24 11.94 - - - USP7 0 genome.wustl.edu 37 16 9009153 9009153 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 9009153 9009153 C G SNP USP7 ENST00000344836 human ensembl 69_37n -1 known missense c.1036 p.D346H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19 - no_errors USP7 HGNC ENSG00000187555 311 0 0.00 154 19 10.98 - - - UTRN 0 genome.wustl.edu 37 6 145119080 145119080 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 145119080 145119080 C G SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.9199 p.Q3067E 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_Znf_ZZ pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 184 0 0.00 118 16 11.94 - - - VAC14 0 genome.wustl.edu 37 16 70732665 70732665 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 70732665 70732665 C G SNP VAC14 ENST00000261776 human ensembl 69_37n -1 known missense c.1711 p.D571H 1.000 pfam_DUF3434,superfamily_ARM-type_fold pfam_DUF3434,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 161 0 0.00 118 15 11.28 - - - VAV2 0 genome.wustl.edu 37 9 136726381 136726381 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 136726381 136726381 G A SNP VAV2 ENST00000486113 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors VAV2 HGNC ENSG00000160293 51 0 0.00 35 6 14.63 - - - VN1R1 0 genome.wustl.edu 37 19 57967296 57967296 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 57967296 57967296 G C SNP VN1R1 ENST00000321039 human ensembl 69_37n -1 known missense c.559 p.L187V 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 233 0 0.00 155 19 10.92 - - - VPS13B 0 genome.wustl.edu 37 8 100123447 100123447 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 100123447 100123447 C T SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known silent c.702 p.F234 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 220 0 0.00 175 20 10.26 - - - VPS13D 0 genome.wustl.edu 37 1 12382770 12382770 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 12382770 12382770 G C SNP VPS13D ENST00000358136 human ensembl 69_37n +1 known missense c.7882 p.E2628Q 0.993 superfamily_UBA-like pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 166 0 0.00 85 13 13.27 - - - VPS33B 0 genome.wustl.edu 37 15 91542265 91542265 + Silent SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 91542265 91542265 C G SNP VPS33B ENST00000333371 human ensembl 69_37n -1 known silent c.1794 p.L598 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 145 0 0.00 71 13 15.48 - - - VPS41 0 genome.wustl.edu 37 7 38908751 38908751 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 38908751 38908751 C A SNP VPS41 ENST00000310301 human ensembl 69_37n -1 known missense c.163 p.D55Y 1.000 superfamily_WD40_repeat_dom,pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 154 0 0.00 95 13 12.04 - - - VPS4B 0 genome.wustl.edu 37 18 61060743 61060743 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 18 61060743 61060743 C G SNP VPS4B ENST00000238497 human ensembl 69_37n -1 known missense c.1132 p.D378H 0.998 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 112 0 0.00 75 10 11.76 - - - VSIG4 0 genome.wustl.edu 37 X 65247917 65247917 + Missense_Mutation SNP A A G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 65247917 65247917 A G SNP VSIG4 ENST00000427538 human ensembl 69_37n -1 known missense c.511 p.Y171H 0.005 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VSIG4 HGNC ENSG00000155659 572 1 0.17 287 47 14.07 - - - VWA5B1 0 genome.wustl.edu 37 1 20662862 20662862 + Nonsense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 20662862 20662862 C G SNP VWA5B1 ENST00000467486 human ensembl 69_37n +1 known nonsense c.104 p.S35* 0.998 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region VWA5B1 HGNC ENSG00000158816 102 0 0.00 60 20 25.00 - - - WDR19 0 genome.wustl.edu 37 4 39217529 39217529 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 39217529 39217529 C T SNP WDR19 ENST00000399820 human ensembl 69_37n +1 known missense c.1030 p.H344Y 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 166 0 0.00 130 16 10.96 - - - WDR31 0 genome.wustl.edu 37 9 116094210 116094210 + Silent SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 116094210 116094210 G C SNP WDR31 ENST00000374193 human ensembl 69_37n -1 known silent c.93 p.L31 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR31 HGNC ENSG00000148225 243 0 0.00 157 19 10.80 - - - WDR31 0 genome.wustl.edu 37 9 116094211 116094211 + Missense_Mutation SNP A A G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 116094211 116094211 A G SNP WDR31 ENST00000374193 human ensembl 69_37n -1 known missense c.92 p.L31P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR31 HGNC ENSG00000148225 246 0 0.00 157 19 10.73 - - - WDR44 0 genome.wustl.edu 37 X 117527075 117527075 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 117527075 117527075 G C SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known missense c.667 p.D223H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 178 0 0.00 97 11 10.19 - - - WDR49 0 genome.wustl.edu 37 3 167250737 167250737 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 167250737 167250737 C A SNP WDR49 ENST00000308378 human ensembl 69_37n -1 known missense c.927 p.W309C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 267 0 0.00 122 26 17.57 - - - WDR52 0 genome.wustl.edu 37 3 113046579 113046579 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 113046579 113046579 C T SNP WDR52 ENST00000393845 human ensembl 69_37n -1 known missense c.4204 p.D1402N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 305 0 0.00 155 39 20.10 - - - WDR66 0 genome.wustl.edu 37 12 122441575 122441575 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 12 122441575 122441575 G A SNP WDR66 ENST00000288912 human ensembl 69_37n +1 known missense c.3355 p.E1119K 0.943 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 417 0 0.00 179 64 26.34 - - - WDR67 0 genome.wustl.edu 37 8 124138797 124138797 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 124138797 124138797 G C SNP WDR67 ENST00000287380 human ensembl 69_37n +1 known missense c.1754 p.R585T 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC ENSG00000156787 269 0 0.00 176 27 13.30 - - - WDR70 0 genome.wustl.edu 37 5 37379655 37379655 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 5 37379655 37379655 C T SNP WDR70 ENST00000265107 human ensembl 69_37n +1 known silent c.90 p.F30 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 45 0 0.00 55 9 14.06 - - - WFIKKN2 0 genome.wustl.edu 37 17 48917652 48917652 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 48917652 48917652 G A SNP WFIKKN2 ENST00000311378 human ensembl 69_37n +1 known missense c.1003 p.E335K 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 48 0 0.00 41 5 10.87 - - - WFIKKN2 0 genome.wustl.edu 37 17 48917949 48917949 + Nonsense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 17 48917949 48917949 G T SNP WFIKKN2 ENST00000311378 human ensembl 69_37n +1 known nonsense c.1300 p.E434* 1.000 pfam_Prot_inh_Kunz-m,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 48 0 0.00 40 5 11.11 - - - WHSC2 0 genome.wustl.edu 37 4 1991547 1991547 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 4 1991547 1991547 C G SNP WHSC2 ENST00000382882 human ensembl 69_37n -1 known missense c.465 p.L155F 0.999 NULL NULL - no_errors WHSC2 HGNC ENSG00000185049 110 0 0.00 98 15 13.27 - - - XIRP1 0 genome.wustl.edu 37 3 39226263 39226263 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 39226263 39226263 G A SNP XIRP1 ENST00000340369 human ensembl 69_37n -1 known silent c.4674 p.L1558 0.581 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 126 0 0.00 48 11 18.64 - - - YTHDF2 0 genome.wustl.edu 37 1 29064169 29064169 + Splice_Site SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 29064169 29064169 G C SNP YTHDF2 ENST00000373812 human ensembl 69_37n +1 known splice_site c.28-1 e2-1 1.000 - - - no_errors YTHDF2 HGNC ENSG00000198492 191 0 0.00 127 15 10.56 - - - ZBTB37 0 genome.wustl.edu 37 1 173839766 173839766 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 173839766 173839766 G A SNP ZBTB37 ENST00000367701 human ensembl 69_37n +1 known missense c.403 p.E135K 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ENSG00000185278 114 0 0.00 54 7 11.48 - - - ZDHHC13 0 genome.wustl.edu 37 11 19173724 19173724 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 19173724 19173724 C G SNP ZDHHC13 ENST00000446113 human ensembl 69_37n +1 known missense c.604 p.L202V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ENSG00000177054 169 0 0.00 87 10 10.31 - - - ZDHHC5 0 genome.wustl.edu 37 11 57461342 57461342 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 57461342 57461342 G A SNP ZDHHC5 ENST00000287169 human ensembl 69_37n +1 known silent c.840 p.V280 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 163 0 0.00 81 14 14.58 - - - ZFP30 0 genome.wustl.edu 37 19 38126340 38126340 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 38126340 38126340 G A SNP ZFP30 ENST00000351218 human ensembl 69_37n -1 known missense c.1102 p.H368Y 0.934 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 ZFP30 HGNC ENSG00000120784 170 0 0.00 70 26 27.08 - - - ZIK1 0 genome.wustl.edu 37 19 58102291 58102291 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 58102291 58102291 G A SNP ZIK1 ENST00000307468 human ensembl 69_37n +1 known missense c.1112 p.R371K 0.074 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 ZIK1 HGNC ENSG00000171649 213 0 0.00 129 23 15.13 - - - ZNF107 0 genome.wustl.edu 37 7 64166948 64166948 + Nonsense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 7 64166948 64166948 C G SNP ZNF107 ENST00000344930 human ensembl 69_37n +1 known nonsense c.266 p.S89* 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 124 0 0.00 50 7 12.28 - - - ZNF16 0 genome.wustl.edu 37 8 146156836 146156836 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 146156836 146156836 G C SNP ZNF16 ENST00000276816 human ensembl 69_37n -1 known missense c.1337 p.S446C 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 217 0 0.00 138 18 11.54 - - - ZNF175 0 genome.wustl.edu 37 19 52091164 52091164 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 52091164 52091164 G C SNP ZNF175 ENST00000262259 human ensembl 69_37n +1 known missense c.1580 p.G527A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF175 HGNC ENSG00000105497 181 1 0.55 102 15 12.82 - - - ZNF193 0 genome.wustl.edu 37 6 28195500 28195500 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 6 28195500 28195500 C T SNP ZNF193 ENST00000252207 human ensembl 69_37n +1 known silent c.453 p.L151 0.002 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF193 HGNC ENSG00000137185 62 0 0.00 26 5 16.13 - - - ZNF211 0 genome.wustl.edu 37 19 58152161 58152161 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 58152161 58152161 G C SNP ZNF211 ENST00000240731 human ensembl 69_37n +1 known missense c.346 p.G116R 0.003 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 ZNF211 HGNC ENSG00000121417 199 0 0.00 167 33 16.42 - - - ZNF256 0 genome.wustl.edu 37 19 58452716 58452716 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 58452716 58452716 C T SNP ZNF256 ENST00000282308 human ensembl 69_37n -1 known missense c.1460 p.G487E 0.991 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 ZNF256 HGNC ENSG00000152454 215 0 0.00 110 28 20.00 - - - ZNF326 0 genome.wustl.edu 37 1 90470570 90470570 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 90470570 90470570 C T SNP ZNF326 ENST00000340281 human ensembl 69_37n +1 known missense c.70 p.R24C 1.000 NULL pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 555 0 0.00 239 34 12.36 - - - ZNF329 0 genome.wustl.edu 37 19 58639365 58639365 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 58639365 58639365 C G SNP ZNF329 ENST00000358067 human ensembl 69_37n -1 known missense c.1506 p.Q502H 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 132 0 0.00 116 26 18.31 - - - ZNF41 0 genome.wustl.edu 37 X 47308438 47308438 + Missense_Mutation SNP T T C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 X 47308438 47308438 T C SNP ZNF41 ENST00000397050 human ensembl 69_37n -1 known missense c.761 p.E254G 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 389 0 0.00 227 28 10.98 - - - ZNF429 0 genome.wustl.edu 37 19 21719431 21719431 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 21719431 21719431 G C SNP ZNF429 ENST00000358491 human ensembl 69_37n +1 known missense c.576 p.K192N 0.926 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 ZNF429 HGNC ENSG00000197013 209 0 0.00 93 15 13.89 - - - ZNF429 0 genome.wustl.edu 37 19 21720033 21720033 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 21720033 21720033 G C SNP ZNF429 ENST00000358491 human ensembl 69_37n +1 known missense c.1178 p.G393A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 93 0 0.00 44 8 15.38 - - - ZNF432 0 genome.wustl.edu 37 19 52538393 52538393 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 52538393 52538393 G A SNP ZNF432 ENST00000221315 human ensembl 69_37n -1 known missense c.539 p.S180F 0.141 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF432 HGNC ENSG00000256087 205 0 0.00 136 16 10.53 - - - ZNF473 0 genome.wustl.edu 37 19 50548387 50548387 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 50548387 50548387 C T SNP ZNF473 ENST00000270617 human ensembl 69_37n +1 known silent c.687 p.I229 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 ZNF473 HGNC ENSG00000142528 107 0 0.00 59 19 24.36 - - - ZNF518A 0 genome.wustl.edu 37 10 97918542 97918542 + RNA SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 97918542 97918542 G C SNP ZNF518A ENST00000316045 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors ZNF518A HGNC ENSG00000177853 87 0 0.00 47 6 11.32 - - - ZNF518A 0 genome.wustl.edu 37 10 97919631 97919631 + RNA SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 10 97919631 97919631 G A SNP ZNF518A ENST00000316045 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ZNF518A HGNC ENSG00000177853 126 0 0.00 68 12 15.00 - - - ZNF527 0 genome.wustl.edu 37 19 37880266 37880266 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 37880266 37880266 G C SNP ZNF527 ENST00000436120 human ensembl 69_37n +1 known missense c.1315 p.E439Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF527 HGNC ENSG00000189164 174 0 0.00 87 14 13.73 - - - ZNF527 0 genome.wustl.edu 37 19 37880322 37880322 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 37880322 37880322 G A SNP ZNF527 ENST00000436120 human ensembl 69_37n +1 known silent c.1371 p.L457 0.003 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 ZNF527 HGNC ENSG00000189164 221 0 0.00 115 15 11.54 - - - ZNF540 0 genome.wustl.edu 37 19 38103034 38103034 + Nonsense_Mutation SNP G G T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 38103034 38103034 G T SNP ZNF540 ENST00000316433 human ensembl 69_37n +1 known nonsense c.853 p.E285* 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 ZNF540 HGNC ENSG00000171817 67 0 0.00 24 11 31.43 - - - ZNF544 0 genome.wustl.edu 37 19 58773307 58773307 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 58773307 58773307 C T SNP ZNF544 ENST00000269829 human ensembl 69_37n +1 known silent c.1335 p.F445 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 ZNF544 HGNC ENSG00000198131 219 0 0.00 129 20 13.42 - - - ZNF578 0 genome.wustl.edu 37 19 53013980 53013980 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 53013980 53013980 C G SNP ZNF578 ENST00000421239 human ensembl 69_37n +1 known missense c.346 p.Q116E 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 222 0 0.00 195 22 10.14 - - - ZNF585A 0 genome.wustl.edu 37 19 37642658 37642658 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 37642658 37642658 C G SNP ZNF585A ENST00000356958 human ensembl 69_37n -1 known missense c.2143 p.E715Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585A HGNC ENSG00000196967 359 0 0.00 213 37 14.80 - - - ZNF619 0 genome.wustl.edu 37 3 40529818 40529818 + RNA SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 3 40529818 40529818 C G SNP ZNF619 ENST00000520737 human ensembl 69_37n +1 known rna NULL NULL 0.007 - - - no_errors ZNF619 HGNC ENSG00000177873 53 0 0.00 19 4 17.39 - - - ZNF625 0 genome.wustl.edu 37 19 12256735 12256735 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 12256735 12256735 C T SNP ZNF625 ENST00000439556 human ensembl 69_37n -1 known missense c.496 p.E166K 0.467 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 ZNF625 Clone_based_vega_gene ENSG00000257591 229 0 0.00 118 20 14.49 - - - ZNF628 0 genome.wustl.edu 37 19 55995407 55995407 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 55995407 55995407 C T SNP ZNF628 ENST00000391718 human ensembl 69_37n +1 known silent c.2835 p.L945 0.792 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 24 0 0.00 23 7 23.33 - - - ZNF643 0 genome.wustl.edu 37 1 40929122 40929122 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 1 40929122 40929122 C T SNP ZNF643 ENST00000411995 human ensembl 69_37n +1 known missense c.1466 p.S489F 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF643 HGNC ENSG00000187801 177 0 0.00 90 15 14.29 - - - ZNF646 0 genome.wustl.edu 37 16 31091915 31091915 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 31091915 31091915 G A SNP ZNF646 ENST00000300850 human ensembl 69_37n +1 known missense c.4270 p.E1424K 0.402 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 71 0 0.00 42 6 12.50 - - - ZNF667 0 genome.wustl.edu 37 19 56953810 56953810 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 56953810 56953810 G A SNP ZNF667 ENST00000342634 human ensembl 69_37n -1 known missense c.938 p.S313L 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 ZNF667 HGNC ENSG00000198046 384 0 0.00 238 27 10.19 - - - ZNF704 0 genome.wustl.edu 37 8 81553616 81553616 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 8 81553616 81553616 C G SNP ZNF704 ENST00000327835 human ensembl 69_37n -1 known missense c.1224 p.Q408H 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 108 0 0.00 43 12 21.82 - - - ZNF710 0 genome.wustl.edu 37 15 90610660 90610660 + Silent SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 15 90610660 90610660 G A SNP ZNF710 ENST00000268154 human ensembl 69_37n +1 known silent c.291 p.R97 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 129 0 0.00 48 9 15.79 - - - ZNF768 0 genome.wustl.edu 37 16 30536321 30536321 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 16 30536321 30536321 C G SNP ZNF768 ENST00000380412 human ensembl 69_37n -1 known missense c.1140 p.K380N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 81 0 0.00 54 7 11.48 - - - ZNF79 0 genome.wustl.edu 37 9 130206951 130206951 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 9 130206951 130206951 G C SNP ZNF79 ENST00000342483 human ensembl 69_37n +1 known missense c.972 p.Q324H 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 184 0 0.00 85 26 23.42 - - - ZSWIM4 0 genome.wustl.edu 37 19 13928148 13928148 + Missense_Mutation SNP G G C TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 19 13928148 13928148 G C SNP ZSWIM4 ENST00000254323 human ensembl 69_37n +1 known missense c.1299 p.E433D 0.539 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 53 0 0.00 14 4 22.22 - - - ZW10 0 genome.wustl.edu 37 11 113644308 113644308 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e641d5f2-b91b-45d8-94a6-73c965c90e0c 8a65e562-4ed9-4ae2-8bd2-446bca056f48 11 113644308 113644308 C T SNP ZW10 ENST00000200135 human ensembl 69_37n -1 known silent c.81 p.L27 1.000 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 99 0 0.00 55 7 11.29 - - -