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 AACS 0 genome.wustl.edu 37 12 125576043 125576043 + Missense_Mutation SNP T T A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 12 125576043 125576043 T A SNP AACS ENST00000316519 human ensembl 69_37n +1 known missense c.544 p.S182T 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 71 0 0.00 91 12 11.65 - - - ACTR1A 0 genome.wustl.edu 37 10 104247996 104247996 + Missense_Mutation SNP C C T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 10 104247996 104247996 C T SNP ACTR1A ENST00000369905 human ensembl 69_37n -1 known missense c.226 p.E76K 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR1A HGNC ENSG00000138107 85 0 0.00 100 52 34.21 - - - ANKRD30B 0 genome.wustl.edu 37 18 14803817 14803817 + Missense_Mutation SNP T T G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 18 14803817 14803817 T G SNP ANKRD30B ENST00000358984 human ensembl 69_37n +1 known missense c.2278 p.L760V 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 289 1 0.34 79 19 19.39 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015302 133015302 + RNA SNP T T G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 2 133015302 133015302 T G SNP ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.013 - - - no_errors ANKRD30BL HGNC ENSG00000163046 17 0 0.00 40 10 20.00 - - - ARHGAP17 0 genome.wustl.edu 37 16 24979688 24979688 + Missense_Mutation SNP C C G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 16 24979688 24979688 C G SNP ARHGAP17 ENST00000289968 human ensembl 69_37n -1 known missense c.445 p.D149H 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 174 0 0.00 125 28 18.18 - - - ARHGEF1 0 genome.wustl.edu 37 19 42410774 42410774 + Splice_Site SNP T T C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 19 42410774 42410774 T C SNP ARHGEF1 ENST00000337665 human ensembl 69_37n +1 known splice_site c.2700+2 e27+2 0.991 - - - no_errors ARHGEF1 HGNC ENSG00000076928 18 0 0.00 17 6 25.00 - - - ARL6 0 genome.wustl.edu 37 3 97506865 97506865 + Missense_Mutation SNP C C A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 3 97506865 97506865 C A SNP ARL6 ENST00000335979 human ensembl 69_37n +1 known missense c.381 p.F127L 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,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 365 0 0.00 98 19 16.24 - - - ARMC9 0 genome.wustl.edu 37 2 232156119 232156119 + Silent SNP C C T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 2 232156119 232156119 C T SNP ARMC9 ENST00000349938 human ensembl 69_37n +1 known silent c.1680 p.I560 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 156 0 0.00 81 18 18.18 - - - BMPR2 0 genome.wustl.edu 37 2 203242213 203242213 + Nonsense_Mutation SNP C C T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 2 203242213 203242213 C T SNP BMPR2 ENST00000374580 human ensembl 69_37n +1 known nonsense c.16 p.Q6* 0.233 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC ENSG00000204217 49 0 0.00 58 25 30.12 - - - BTN3A1 0 genome.wustl.edu 37 6 26412970 26412970 + Silent SNP A A G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 6 26412970 26412970 A G SNP BTN3A1 ENST00000476549 human ensembl 69_37n +1 known silent c.1056 p.K352 0.000 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors BTN3A1 HGNC ENSG00000026950 452 0 0.00 211 30 12.45 - - - CARS2 0 genome.wustl.edu 37 13 111319757 111319759 + In_Frame_Del DEL ATG ATG - TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 13 111319757 111319759 ATG - DEL CARS2 ENST00000257347 human ensembl 69_37n -1 known in_frame_del c.849_847 p.H283in_frame_del 0.835:1.000:1.000 pfam_Cys-tRNA/MSH_ligase,pfam_aa-tRNA-synth_Ia,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt - no_errors CARS2 HGNC ENSG00000134905 304 0 0.00 91 11 10.58 - - - CCDC144B 0 genome.wustl.edu 37 17 18528551 18528551 + RNA SNP G G A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 17 18528551 18528551 G A SNP CCDC144B ENST00000450277 human ensembl 69_37n -1 known rna NULL NULL 0.059 - - - no_errors CCDC144B HGNC ENSG00000154874 27 0 0.00 33 16 32.65 - - - CEP63 0 genome.wustl.edu 37 3 134268924 134268924 + Missense_Mutation SNP A A G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 3 134268924 134268924 A G SNP CEP63 ENST00000337090 human ensembl 69_37n +1 known missense c.1202 p.Q401R 1.000 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 302 0 0.00 83 23 21.70 - - - CNGB1 0 genome.wustl.edu 37 16 57965655 57965655 + Silent SNP G G T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 16 57965655 57965655 G T SNP CNGB1 ENST00000251102 human ensembl 69_37n -1 known silent c.1500 p.T500 0.998 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 140 0 0.00 172 37 17.70 - - - CSPP1 0 genome.wustl.edu 37 8 68024243 68024243 + Missense_Mutation SNP A A G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 8 68024243 68024243 A G SNP CSPP1 ENST00000262210 human ensembl 69_37n +1 known missense c.1157 p.E386G 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 395 0 0.00 203 52 20.39 - - - DDX26B 0 genome.wustl.edu 37 X 134713802 134713802 + Missense_Mutation SNP G G C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 X 134713802 134713802 G C SNP DDX26B ENST00000370752 human ensembl 69_37n +1 known missense c.2098 p.E700Q 0.008 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 157 0 0.00 76 20 20.83 - - - DHPS 0 genome.wustl.edu 37 19 12788192 12788192 + Missense_Mutation SNP T T G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 19 12788192 12788192 T G SNP DHPS ENST00000210060 human ensembl 69_37n -1 known missense c.697 p.S233R 1.000 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 50 0 0.00 81 18 18.18 - - - EIF3I 0 genome.wustl.edu 37 1 32694340 32694340 + Missense_Mutation SNP A A G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 1 32694340 32694340 A G SNP EIF3I ENST00000373586 human ensembl 69_37n +1 known missense c.652 p.T218A 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC ENSG00000084623 95 0 0.00 117 25 17.48 - - - EPHA6 0 genome.wustl.edu 37 3 97356897 97356897 + Missense_Mutation SNP G G T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 3 97356897 97356897 G T SNP EPHA6 ENST00000389672 human ensembl 69_37n +1 known missense c.2755 p.D919Y 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_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 221 0 0.00 143 18 11.18 - - - GALNT5 0 genome.wustl.edu 37 2 158152231 158152231 + Missense_Mutation SNP C C A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 2 158152231 158152231 C A SNP GALNT5 ENST00000259056 human ensembl 69_37n +1 known missense c.1798 p.P600T 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 730 1 0.14 380 94 19.83 - - - HIVEP3 0 genome.wustl.edu 37 1 41976178 41976178 + Missense_Mutation SNP C C T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 1 41976178 41976178 C T SNP HIVEP3 ENST00000247584 human ensembl 69_37n -1 known missense c.7165 p.G2389R 0.893 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 24 0 0.00 35 8 18.60 - - - IGSF9B 0 genome.wustl.edu 37 11 133807856 133807856 + Missense_Mutation SNP G G T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 11 133807856 133807856 G T SNP IGSF9B ENST00000321016 human ensembl 69_37n -1 known missense c.410 p.A137D 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 57 0 0.00 52 12 18.75 - - - ITGA8 0 genome.wustl.edu 37 10 15573048 15573048 + Splice_Site SNP C C A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 10 15573048 15573048 C A SNP ITGA8 ENST00000378076 human ensembl 69_37n -1 known splice_site c.2982+1 e28+1 0.996 - - - no_errors ITGA8 HGNC ENSG00000077943 277 0 0.00 64 16 20.00 - - - ITGAD 0 genome.wustl.edu 37 16 31425771 31425771 + Splice_Site SNP G G C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 16 31425771 31425771 G C SNP ITGAD ENST00000389202 human ensembl 69_37n +1 known splice_site c.1997-1 e17-1 0.961 - - - no_errors ITGAD HGNC ENSG00000156886 181 0 0.00 130 35 21.21 - - - ITGAX 0 genome.wustl.edu 37 16 31373963 31373963 + Silent SNP G G T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 16 31373963 31373963 G T SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known silent c.1248 p.G416 0.154 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,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAX HGNC ENSG00000140678 27 0 0.00 45 19 29.69 - - - KIAA0907 0 genome.wustl.edu 37 1 155903461 155903461 + Missense_Mutation SNP T T C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 1 155903461 155903461 T C SNP KIAA0907 ENST00000368321 human ensembl 69_37n -1 known missense c.218 p.K73R 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 93 0 0.00 99 11 10.00 - - - LAMB4 0 genome.wustl.edu 37 7 107746436 107746436 + Missense_Mutation SNP C C G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 7 107746436 107746436 C G SNP LAMB4 ENST00000205386 human ensembl 69_37n -1 known missense c.696 p.K232N 0.970 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 221 0 0.00 161 36 18.27 - - - LILRA5 0 genome.wustl.edu 37 19 54822884 54822884 + Missense_Mutation SNP A A G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 19 54822884 54822884 A G SNP LILRA5 ENST00000301219 human ensembl 69_37n -1 known missense c.512 p.F171S 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 55 0 0.00 78 13 14.29 - - - LRP2 0 genome.wustl.edu 37 2 170011097 170011097 + Missense_Mutation SNP C C G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 2 170011097 170011097 C G SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.12168 p.L4056F 0.997 superfamily_Growth_fac_rcpt 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 149 0 0.00 103 30 22.56 - - - LRRIQ1 0 genome.wustl.edu 37 12 85449848 85449848 + Missense_Mutation SNP T T A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 12 85449848 85449848 T A SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known missense c.1277 p.L426Q 0.000 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 244 0 0.00 31 10 24.39 - - - LRRIQ1 0 genome.wustl.edu 37 12 85449849 85449849 + Silent SNP A A G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 12 85449849 85449849 A G SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known silent c.1278 p.L426 0.000 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 244 0 0.00 32 10 23.81 - - - MAML2 0 genome.wustl.edu 37 11 95825407 95825407 + Silent SNP C C T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 11 95825407 95825407 C T SNP MAML2 ENST00000440572 human ensembl 69_37n -1 known silent c.1788 p.Q596 0.003 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 69 0 0.00 192 30 13.51 - - - METTL14 0 genome.wustl.edu 37 4 119609080 119609080 + Missense_Mutation SNP G G C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 4 119609080 119609080 G C SNP METTL14 ENST00000388822 human ensembl 69_37n +1 known missense c.69 p.L23F 1.000 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL14 HGNC ENSG00000145388 297 0 0.00 178 40 18.35 - - - MUC5B 0 genome.wustl.edu 37 11 1264014 1264014 + Silent SNP G G C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 11 1264014 1264014 G C SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known silent c.5913 p.L1971 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 261 0 0.00 599 145 19.49 - - - NECAB1 0 genome.wustl.edu 37 8 91937819 91937819 + Missense_Mutation SNP G G T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 8 91937819 91937819 G T SNP NECAB1 ENST00000417640 human ensembl 69_37n +1 known missense c.551 p.S184I 0.997 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB1 HGNC ENSG00000123119 124 0 0.00 220 29 11.65 - - - NECAP2 0 genome.wustl.edu 37 1 16770220 16770220 + Missense_Mutation SNP G G T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 1 16770220 16770220 G T SNP NECAP2 ENST00000443980 human ensembl 69_37n +1 known missense c.186 p.R62S 0.990 pfam_NECAP-1 pfam_NECAP-1 - no_errors NECAP2 HGNC ENSG00000157191 50 0 0.00 62 10 13.89 - - - NEDD9 0 genome.wustl.edu 37 6 11190312 11190312 + Missense_Mutation SNP T T A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 6 11190312 11190312 T A SNP NEDD9 ENST00000379446 human ensembl 69_37n -1 known missense c.1790 p.Q597L 0.133 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 37 0 0.00 63 18 22.22 - - - NUP88 0 genome.wustl.edu 37 17 5289552 5289552 + Missense_Mutation SNP C C G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 17 5289552 5289552 C G SNP NUP88 ENST00000573584 human ensembl 69_37n -1 known missense c.2200 p.D734H 1.000 pfam_Nucleoporin_Nup88 pfam_Nucleoporin_Nup88 - no_errors NUP88 HGNC ENSG00000108559 537 0 0.00 270 78 22.41 - - - OR4A5 0 genome.wustl.edu 37 11 51411671 51411671 + Missense_Mutation SNP G G C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 11 51411671 51411671 G C SNP OR4A5 ENST00000319760 human ensembl 69_37n -1 known missense c.725 p.T242S 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 119 0 0.00 66 15 18.52 - - - OR5L2 0 genome.wustl.edu 37 11 55594925 55594925 + Missense_Mutation SNP T T G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 11 55594925 55594925 T G SNP OR5L2 ENST00000378397 human ensembl 69_37n +1 known missense c.231 p.I77M 0.044 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 365 0 0.00 383 78 16.92 - - - OXGR1 0 genome.wustl.edu 37 13 97639673 97639673 + Missense_Mutation SNP T T C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 13 97639673 97639673 T C SNP OXGR1 ENST00000298440 human ensembl 69_37n -1 known missense c.341 p.H114R 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors OXGR1 HGNC ENSG00000165621 77 0 0.00 112 33 22.76 - - - PARP8 0 genome.wustl.edu 37 5 50055554 50055554 + Nonsense_Mutation SNP A A T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 5 50055554 50055554 A T SNP PARP8 ENST00000281631 human ensembl 69_37n +1 known nonsense c.262 p.R88* 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 412 0 0.00 126 16 11.27 - - - PDE2A 0 genome.wustl.edu 37 11 72300269 72300269 + Missense_Mutation SNP C C G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 11 72300269 72300269 C G SNP PDE2A ENST00000334456 human ensembl 69_37n -1 known missense c.889 p.G297R 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 43 0 0.00 41 8 16.33 - - - PEAK1 0 genome.wustl.edu 37 15 77406585 77406585 + Silent SNP G G A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 15 77406585 77406585 G A SNP PEAK1 ENST00000312493 human ensembl 69_37n -1 known silent c.5154 p.S1718 1.000 NULL 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 PEAK1 Clone_based_vega_gene ENSG00000173517 96 0 0.00 130 20 13.33 - - - PEAR1 0 genome.wustl.edu 37 1 156883814 156883814 + Missense_Mutation SNP T T A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 1 156883814 156883814 T A SNP PEAR1 ENST00000292357 human ensembl 69_37n +1 known missense c.2884 p.W962R 0.084 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 19 0 0.00 31 14 31.11 - - - PHKB 0 genome.wustl.edu 37 16 47531346 47531346 + Missense_Mutation SNP C C T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 16 47531346 47531346 C T SNP PHKB ENST00000299167 human ensembl 69_37n +1 known missense c.113 p.P38L 0.992 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 403 0 0.00 96 32 25.00 - - - PLEKHS1 0 genome.wustl.edu 37 10 115540387 115540387 + Missense_Mutation SNP C C G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 10 115540387 115540387 C G SNP PLEKHS1 ENST00000369312 human ensembl 69_37n +1 known missense c.948 p.I316M 1.000 NULL NULL - no_errors PLEKHS1 HGNC ENSG00000148735 218 1 0.46 107 19 15.08 - - - PLS1 0 genome.wustl.edu 37 3 142403210 142403210 + Silent SNP C C T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 3 142403210 142403210 C T SNP PLS1 ENST00000337777 human ensembl 69_37n +1 known silent c.861 p.T287 0.905 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC ENSG00000120756 122 0 0.00 112 16 12.50 - - - PRR23B 0 genome.wustl.edu 37 3 138738845 138738845 + Missense_Mutation SNP C C T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 3 138738845 138738845 C T SNP PRR23B ENST00000329447 human ensembl 69_37n -1 known missense c.659 p.R220H 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 49 0 0.00 76 23 23.00 - - - PSMA5 0 genome.wustl.edu 37 1 109952632 109952632 + Missense_Mutation SNP A A C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 1 109952632 109952632 A C SNP PSMA5 ENST00000271308 human ensembl 69_37n -1 known missense c.566 p.M189R 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA5 HGNC ENSG00000143106 434 1 0.23 180 49 21.40 - - - PTGIS 0 genome.wustl.edu 37 20 48124493 48124493 + Missense_Mutation SNP T T A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 20 48124493 48124493 T A SNP PTGIS ENST00000244043 human ensembl 69_37n -1 known missense c.1467 p.E489D 0.056 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 10 0 0.00 44 12 21.43 - - - PTPN14 0 genome.wustl.edu 37 1 214557148 214557148 + Missense_Mutation SNP G G C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 1 214557148 214557148 G C SNP PTPN14 ENST00000366956 human ensembl 69_37n -1 known missense c.2050 p.H684D 0.989 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 18 0 0.00 62 15 19.48 - - - RIMBP2 0 genome.wustl.edu 37 12 130927134 130927134 + Missense_Mutation SNP G G A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 12 130927134 130927134 G A SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known missense c.712 p.R238W 0.780 superfamily_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 66 0 0.00 93 27 22.50 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037843 10037843 + RNA SNP C C T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 Y 10037843 10037843 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 32 0 0.00 8 5 38.46 - - - RSPO2 0 genome.wustl.edu 37 8 109001415 109001415 + Missense_Mutation SNP C C A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 8 109001415 109001415 C A SNP RSPO2 ENST00000276659 human ensembl 69_37n -1 known missense c.152 p.G51V 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO2 HGNC ENSG00000147655 130 1 0.76 132 20 13.16 - - - RTN4RL2 0 genome.wustl.edu 37 11 57235332 57235332 + Silent SNP C C T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 11 57235332 57235332 C T SNP RTN4RL2 ENST00000335099 human ensembl 69_37n +1 known silent c.282 p.L94 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 39 0 0.00 128 31 19.50 - - - SELPLG 0 genome.wustl.edu 37 12 109017672 109017674 + In_Frame_Del DEL GCA GCA - TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 12 109017672 109017674 GCA - DEL SELPLG ENST00000550948 human ensembl 69_37n -1 known in_frame_del c.412_410 p.VP137in_frame_delA 0.000:0.000:0.000 NULL NULL - no_errors SELPLG HGNC ENSG00000110876 66 0 0.00 213 50 12.20 - - - SIPA1L2 0 genome.wustl.edu 37 1 232650538 232650538 + Missense_Mutation SNP T T C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 1 232650538 232650538 T C SNP SIPA1L2 ENST00000262861 human ensembl 69_37n -1 known missense c.548 p.N183S 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 141 1 0.70 182 31 14.55 - - - SLC45A3 0 genome.wustl.edu 37 1 205628387 205628387 + Missense_Mutation SNP C C G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 1 205628387 205628387 C G SNP SLC45A3 ENST00000367145 human ensembl 69_37n -1 known missense c.1637 p.S546T 0.826 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 15 0 0.00 36 26 41.94 - - - SPEG 0 genome.wustl.edu 37 2 220333886 220333886 + Missense_Mutation SNP T T A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 2 220333886 220333886 T A SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel missense c.3500 p.L1167Q 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 13 0 0.00 23 12 34.29 - - - SPG20 0 genome.wustl.edu 37 13 36886528 36886528 + Missense_Mutation SNP A A G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 13 36886528 36886528 A G SNP SPG20 ENST00000355182 human ensembl 69_37n -1 known missense c.1570 p.S524P 1.000 pfam_Senescence/spartin pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 416 0 0.00 102 39 27.66 - - - SSPO 0 genome.wustl.edu 37 7 149500337 149500337 + RNA SNP T T G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 7 149500337 149500337 T G SNP SSPO ENST00000378016 human ensembl 69_37n +1 known rna NULL NULL 0.108 - - - no_errors SSPO HGNC ENSG00000197558 22 0 0.00 51 9 15.00 - - - SYT17 0 genome.wustl.edu 37 16 19278387 19278387 + Nonsense_Mutation SNP G G T TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 16 19278387 19278387 G T SNP SYT17 ENST00000355377 human ensembl 69_37n +1 known nonsense c.1414 p.E472* 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 15 0 0.00 43 8 15.69 - - - TMUB2 0 genome.wustl.edu 37 17 42265092 42265092 + Missense_Mutation SNP C C G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 17 42265092 42265092 C G SNP TMUB2 ENST00000538716 human ensembl 69_37n +1 known missense c.16 p.L6V 0.999 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors TMUB2 HGNC ENSG00000168591 455 0 0.00 142 59 29.21 - - - TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 179 1 0.56 104 52 33.33 - - - TRIM49B 0 genome.wustl.edu 37 11 49053370 49053370 + Missense_Mutation SNP G G A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 11 49053370 49053370 G A SNP TRIM49B ENST00000332682 human ensembl 69_37n +1 known missense c.219 p.M73I 0.855 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,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 TRIM49B HGNC ENSG00000182053 350 0 0.00 157 38 19.49 - - - UAP1 0 genome.wustl.edu 37 1 162557384 162557384 + Missense_Mutation SNP C C G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 1 162557384 162557384 C G SNP UAP1 ENST00000271469 human ensembl 69_37n +1 known missense c.954 p.D318E 0.996 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1 HGNC ENSG00000117143 160 0 0.00 130 16 10.96 - - - ZNF169 0 genome.wustl.edu 37 9 97063282 97063282 + Missense_Mutation SNP C C A TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 9 97063282 97063282 C A SNP ZNF169 ENST00000395395 human ensembl 69_37n +1 known missense c.1442 p.T481K 0.687 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 ZNF169 HGNC ENSG00000175787 70 0 0.00 85 14 14.00 - - - ZNF37A 0 genome.wustl.edu 37 10 38407207 38407207 + Silent SNP A A G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 265ceec6-e9a8-499e-adf6-0c18c598532e 30329e31-a2b2-4c2e-8291-f775e3c9fa14 10 38407207 38407207 A G SNP ZNF37A ENST00000351773 human ensembl 69_37n +1 known silent c.1128 p.T376 0.975 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 ZNF37A HGNC ENSG00000075407 205 0 0.00 97 28 22.40 - - -