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 ACACB 0 genome.wustl.edu 37 12 109654723 109654723 + Missense_Mutation SNP A A T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 12 109654723 109654723 A T SNP ACACB ENST00000338432 human ensembl 69_37n +1 known missense c.3562 p.I1188F 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,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 80 0 0.00 33 36 52.17 - - - ACACB 0 genome.wustl.edu 37 12 109654723 109654723 + Missense_Mutation SNP A A T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 12 109654723 109654723 A T SNP ACACB ENST00000338432 human ensembl 69_37n +1 known missense c.3562 p.I1188F 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,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 96 0 0.00 33 18 35.29 - - - ADCY5 0 genome.wustl.edu 37 3 123021902 123021902 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 3 123021902 123021902 C A SNP ADCY5 ENST00000462833 human ensembl 69_37n -1 known missense c.2724 p.E908D 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 45 0 0.00 54 13 19.40 - - - ADCY5 0 genome.wustl.edu 37 3 123021902 123021902 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 3 123021902 123021902 C A SNP ADCY5 ENST00000462833 human ensembl 69_37n -1 known missense c.2724 p.E908D 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 71 0 0.00 51 11 17.74 - - - AFF4 0 genome.wustl.edu 37 5 132228002 132228002 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 5 132228002 132228002 G C SNP AFF4 ENST00000265343 human ensembl 69_37n -1 known missense c.2491 p.R831G 0.998 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 263 0 0.00 111 115 50.88 - - - AFF4 0 genome.wustl.edu 37 5 132228002 132228002 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 5 132228002 132228002 G C SNP AFF4 ENST00000265343 human ensembl 69_37n -1 known missense c.2491 p.R831G 0.998 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 54 0 0.00 31 27 46.55 - - - ANKRD23 0 genome.wustl.edu 37 2 97490563 97490563 + RNA SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 2 97490563 97490563 C T SNP ANKRD23 ENST00000476975 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ANKRD23 HGNC ENSG00000163126 83 0 0.00 62 7 10.14 - - - ANKRD30BP2 0 genome.wustl.edu 37 21 14418421 14418421 + RNA SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 21 14418421 14418421 G A SNP ANKRD30BP2 ENST00000507941 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 9 0 0.00 1 2 66.67 - - - AOC3 0 genome.wustl.edu 37 17 41004004 41004004 + Missense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 17 41004004 41004004 C T SNP AOC3 ENST00000308423 human ensembl 69_37n +1 known missense c.644 p.P215L 0.999 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 26 0 0.00 86 11 11.34 - - - AP5B1 0 genome.wustl.edu 37 11 65546850 65546850 + Missense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 11 65546850 65546850 C T SNP AP5B1 ENST00000532090 human ensembl 69_37n -1 novel missense c.1114 p.V372I 1.000 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 89 0 0.00 62 14 18.42 - - - APBB1IP 0 genome.wustl.edu 37 10 26781288 26781288 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 10 26781288 26781288 G A SNP APBB1IP ENST00000376236 human ensembl 69_37n +1 known missense c.33 p.M11I 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 234 1 0.43 202 209 50.85 - - - APBB1IP 0 genome.wustl.edu 37 10 26781288 26781288 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 10 26781288 26781288 G A SNP APBB1IP ENST00000376236 human ensembl 69_37n +1 known missense c.33 p.M11I 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 67 0 0.00 36 37 50.68 - - - ARFGAP1 0 genome.wustl.edu 37 20 61907987 61907987 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 20 61907987 61907987 C A SNP ARFGAP1 ENST00000353546 human ensembl 69_37n +1 known missense c.326 p.A109D 1.000 pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 114 0 0.00 149 67 30.59 - - - ARFGAP1 0 genome.wustl.edu 37 20 61907987 61907987 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 20 61907987 61907987 C A SNP ARFGAP1 ENST00000353546 human ensembl 69_37n +1 known missense c.326 p.A109D 1.000 pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 53 0 0.00 32 19 37.25 - - - ARHGAP11A 0 genome.wustl.edu 37 15 32929244 32929244 + Missense_Mutation SNP A A G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 15 32929244 32929244 A G SNP ARHGAP11A ENST00000361627 human ensembl 69_37n +1 known missense c.2270 p.D757G 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 56 0 0.00 27 25 48.08 - - - ARID4B 0 genome.wustl.edu 37 1 235345422 235345422 + Missense_Mutation SNP T T G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 235345422 235345422 T G SNP ARID4B ENST00000264183 human ensembl 69_37n -1 known missense c.2812 p.K938Q 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 70 0 0.00 74 56 43.08 - - - ARID4B 0 genome.wustl.edu 37 1 235345422 235345422 + Missense_Mutation SNP T T G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 235345422 235345422 T G SNP ARID4B ENST00000264183 human ensembl 69_37n -1 known missense c.2812 p.K938Q 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 63 0 0.00 56 47 45.63 - - - ATF3 0 genome.wustl.edu 37 1 212791561 212791561 + Silent SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 212791561 212791561 G A SNP ATF3 ENST00000341491 human ensembl 69_37n +1 known silent c.333 p.T111 0.349 pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors ATF3 HGNC ENSG00000162772 254 1 0.39 174 146 45.62 - - - ATF3 0 genome.wustl.edu 37 1 212791561 212791561 + Silent SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 212791561 212791561 G A SNP ATF3 ENST00000341491 human ensembl 69_37n +1 known silent c.333 p.T111 0.349 pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors ATF3 HGNC ENSG00000162772 34 0 0.00 10 5 33.33 - - - ATP6V0A1 0 genome.wustl.edu 37 17 40629720 40629720 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 17 40629720 40629720 G A SNP ATP6V0A1 ENST00000264649 human ensembl 69_37n +1 known missense c.487 p.E163K 1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A1 HGNC ENSG00000033627 40 0 0.00 83 12 12.63 - - - AUP1 0 genome.wustl.edu 37 2 74756062 74756062 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 2 74756062 74756062 G A SNP AUP1 ENST00000377526 human ensembl 69_37n -1 known missense c.340 p.P114S 1.000 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 59 0 0.00 91 35 27.78 - - - AUP1 0 genome.wustl.edu 37 2 74756062 74756062 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 2 74756062 74756062 G A SNP AUP1 ENST00000377526 human ensembl 69_37n -1 known missense c.340 p.P114S 1.000 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 45 0 0.00 18 14 43.75 - - - BAI2 0 genome.wustl.edu 37 1 32203298 32203298 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 32203298 32203298 C G SNP BAI2 ENST00000373658 human ensembl 69_37n -1 known missense c.2831 p.C944S 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 34 0 0.00 30 17 36.17 - - - BAI2 0 genome.wustl.edu 37 1 32203298 32203298 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 32203298 32203298 C G SNP BAI2 ENST00000373658 human ensembl 69_37n -1 known missense c.2831 p.C944S 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 29 0 0.00 17 10 37.04 - - - C16orf87 0 genome.wustl.edu 37 16 46858381 46858381 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 16 46858381 46858381 C A SNP C16orf87 ENST00000285697 human ensembl 69_37n -1 known missense c.80 p.C27F 1.000 pfam_UPF0547 pfam_UPF0547 - no_errors C16orf87 HGNC ENSG00000155330 51 0 0.00 16 9 36.00 - - - C16orf93 0 genome.wustl.edu 37 16 30772925 30772925 + Nonsense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 16 30772925 30772925 G A SNP C16orf93 ENST00000543610 human ensembl 69_37n -1 known nonsense c.145 p.Q49* 0.022 NULL NULL - no_errors C16orf93 HGNC ENSG00000196118 141 0 0.00 33 54 62.07 - - - C1orf222 0 genome.wustl.edu 37 1 1860235 1860235 + Missense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 1860235 1860235 C T SNP C1orf222 ENST00000493964 human ensembl 69_37n -1 putative missense c.1224 p.M408I 0.000 NULL superfamily_PapD-like - no_start_codon C1orf222 HGNC ENSG00000142609 81 0 0.00 43 17 28.33 - - - CAST 0 genome.wustl.edu 37 5 96079350 96079350 + Missense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 5 96079350 96079350 C T SNP CAST ENST00000515663 human ensembl 69_37n +1 novel missense c.20 p.S7L 0.831 NULL pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 198 0 0.00 195 30 13.27 - - - CCDC168 0 genome.wustl.edu 37 13 103384955 103384955 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 13 103384955 103384955 C A SNP CCDC168 ENST00000322527 human ensembl 69_37n -1 known missense c.4205 p.S1402I 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 323 0 0.00 309 80 20.51 - - - CCDC168 0 genome.wustl.edu 37 13 103384955 103384955 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 13 103384955 103384955 C A SNP CCDC168 ENST00000322527 human ensembl 69_37n -1 known missense c.4205 p.S1402I 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 50 0 0.00 49 14 22.22 - - - CD97 0 genome.wustl.edu 37 19 14508566 14508566 + Nonsense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 19 14508566 14508566 G A SNP CD97 ENST00000242786 human ensembl 69_37n +1 known nonsense c.722 p.W241* 0.957 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,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_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 49 0 0.00 21 18 46.15 - - - CDCA7 0 genome.wustl.edu 37 2 174224156 174224156 + Silent SNP T T C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 2 174224156 174224156 T C SNP CDCA7 ENST00000306721 human ensembl 69_37n +1 known silent c.321 p.F107 1.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7 HGNC ENSG00000144354 100 0 0.00 106 17 13.82 - - - CDCA7 0 genome.wustl.edu 37 2 174224198 174224198 + Silent SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 2 174224198 174224198 G A SNP CDCA7 ENST00000306721 human ensembl 69_37n +1 known silent c.363 p.E121 1.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7 HGNC ENSG00000144354 95 0 0.00 90 13 12.62 - - - CDH26 0 genome.wustl.edu 37 20 58547126 58547126 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 20 58547126 58547126 G A SNP CDH26 ENST00000244047 human ensembl 69_37n +1 known missense c.341 p.G114E 0.783 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 387 1 0.26 497 100 16.75 - - - CDH26 0 genome.wustl.edu 37 20 58547126 58547126 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 20 58547126 58547126 G A SNP CDH26 ENST00000244047 human ensembl 69_37n +1 known missense c.341 p.G114E 0.783 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 84 0 0.00 81 17 17.35 - - - CELSR3 0 genome.wustl.edu 37 3 48694701 48694701 + Missense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 3 48694701 48694701 C T SNP CELSR3 ENST00000544264 human ensembl 69_37n -1 known missense c.3829 p.V1277M 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,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 CELSR3 HGNC ENSG00000008300 38 0 0.00 43 12 21.82 - - - CELSR3 0 genome.wustl.edu 37 3 48694701 48694701 + Missense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 3 48694701 48694701 C T SNP CELSR3 ENST00000544264 human ensembl 69_37n -1 known missense c.3829 p.V1277M 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,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 CELSR3 HGNC ENSG00000008300 33 0 0.00 32 5 13.51 - - - CEP72 0 genome.wustl.edu 37 5 653161 653161 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 5 653161 653161 C A SNP CEP72 ENST00000264935 human ensembl 69_37n +1 known missense c.1837 p.H613N 0.990 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 100 0 0.00 114 25 17.99 - - - CIRBP-AS1 0 genome.wustl.edu 37 19 1269930 1269930 + RNA SNP C C G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 19 1269930 1269930 C G SNP CIRBP-AS1 ENST00000585832 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CIRBP-AS1 HGNC ENSG00000267493 174 0 0.00 81 79 49.38 - - - CIRBP-AS1 0 genome.wustl.edu 37 19 1269930 1269930 + RNA SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 19 1269930 1269930 C G SNP CIRBP-AS1 ENST00000585832 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CIRBP-AS1 HGNC ENSG00000267493 92 0 0.00 24 29 54.72 - - - CRMP1 0 genome.wustl.edu 37 4 5844877 5844877 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 4 5844877 5844877 C T SNP CRMP1 ENST00000324989 human ensembl 69_37n -1 known silent c.975 p.R325 0.907 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 213 0 0.00 120 47 28.14 - - - CRMP1 0 genome.wustl.edu 37 4 5844877 5844877 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 4 5844877 5844877 C T SNP CRMP1 ENST00000324989 human ensembl 69_37n -1 known silent c.975 p.R325 0.907 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 51 0 0.00 28 4 12.50 - - - DENND1C 0 genome.wustl.edu 37 19 6476917 6476917 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 19 6476917 6476917 G A SNP DENND1C ENST00000381480 human ensembl 69_37n -1 known missense c.629 p.A210V 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 50 0 0.00 17 17 50.00 - - - DENND1C 0 genome.wustl.edu 37 19 6476917 6476917 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 19 6476917 6476917 G A SNP DENND1C ENST00000381480 human ensembl 69_37n -1 known missense c.629 p.A210V 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 42 0 0.00 27 6 18.18 - - - DNAH6 0 genome.wustl.edu 37 2 84930672 84930672 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 2 84930672 84930672 G A SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.8215 p.E2739K 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 96 0 0.00 102 48 32.00 - - - DNAH6 0 genome.wustl.edu 37 2 84930672 84930672 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 2 84930672 84930672 G A SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.8215 p.E2739K 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 21 0 0.00 22 5 18.52 - - - EHHADH 0 genome.wustl.edu 37 3 184911054 184911054 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 3 184911054 184911054 C G SNP EHHADH ENST00000231887 human ensembl 69_37n -1 known missense c.1132 p.V378L 1.000 pfam_3-OHacyl-CoA_DH_NAD-bd pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 358 0 0.00 304 174 36.40 - - - EHHADH 0 genome.wustl.edu 37 3 184911054 184911054 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 3 184911054 184911054 C G SNP EHHADH ENST00000231887 human ensembl 69_37n -1 known missense c.1132 p.V378L 1.000 pfam_3-OHacyl-CoA_DH_NAD-bd pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 93 0 0.00 53 32 37.65 - - - EML6 0 genome.wustl.edu 37 2 55080895 55080895 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 2 55080895 55080895 C G SNP EML6 ENST00000356458 human ensembl 69_37n +1 novel missense c.1560 p.D520E 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 234 0 0.00 268 60 18.24 - - - EML6 0 genome.wustl.edu 37 2 55080895 55080895 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 2 55080895 55080895 C G SNP EML6 ENST00000356458 human ensembl 69_37n +1 novel missense c.1560 p.D520E 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 33 0 0.00 28 6 17.65 - - - EMR2 0 genome.wustl.edu 37 19 14876520 14876520 + Nonsense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 19 14876520 14876520 C T SNP EMR2 ENST00000315576 human ensembl 69_37n -1 known nonsense c.731 p.W244* 0.046 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors EMR2 HGNC ENSG00000127507 204 0 0.00 123 42 25.45 - - - EMR2 0 genome.wustl.edu 37 19 14876520 14876520 + Nonsense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 19 14876520 14876520 C T SNP EMR2 ENST00000315576 human ensembl 69_37n -1 known nonsense c.731 p.W244* 0.046 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors EMR2 HGNC ENSG00000127507 54 0 0.00 29 14 32.56 - - - EPHB2 0 genome.wustl.edu 37 1 23236889 23236889 + Missense_Mutation SNP T T G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 23236889 23236889 T G SNP EPHB2 ENST00000400191 human ensembl 69_37n +1 known missense c.2517 p.I839M 0.736 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_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_type1,pfam_SAM_2,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 EPHB2 HGNC ENSG00000133216 86 0 0.00 59 19 24.36 - - - EPHB2 0 genome.wustl.edu 37 1 23236889 23236889 + Missense_Mutation SNP T T G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 23236889 23236889 T G SNP EPHB2 ENST00000400191 human ensembl 69_37n +1 known missense c.2517 p.I839M 0.736 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_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_type1,pfam_SAM_2,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 EPHB2 HGNC ENSG00000133216 49 0 0.00 20 6 23.08 - - - EPN1 0 genome.wustl.edu 37 19 56200357 56200357 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 19 56200357 56200357 C T SNP EPN1 ENST00000411543 human ensembl 69_37n +1 known silent c.933 p.D311 1.000 smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 12 0 0.00 11 10 47.62 - - - EPN1 0 genome.wustl.edu 37 19 56200357 56200357 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 19 56200357 56200357 C T SNP EPN1 ENST00000411543 human ensembl 69_37n +1 known silent c.933 p.D311 1.000 smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 56 0 0.00 33 19 36.54 - - - F2R 0 genome.wustl.edu 37 5 76029028 76029028 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 5 76029028 76029028 C G SNP F2R ENST00000319211 human ensembl 69_37n +1 known missense c.978 p.F326L 0.998 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Thrmbn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors F2R HGNC ENSG00000181104 229 0 0.00 139 34 19.65 - - - F2R 0 genome.wustl.edu 37 5 76029028 76029028 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 5 76029028 76029028 C G SNP F2R ENST00000319211 human ensembl 69_37n +1 known missense c.978 p.F326L 0.998 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Thrmbn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors F2R HGNC ENSG00000181104 109 0 0.00 45 11 19.64 - - - FAM13B 0 genome.wustl.edu 37 5 137289955 137289955 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 5 137289955 137289955 G A SNP FAM13B ENST00000033079 human ensembl 69_37n -1 known missense c.1552 p.P518S 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 133 0 0.00 53 55 50.46 - - - FAM13B 0 genome.wustl.edu 37 5 137289955 137289955 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 5 137289955 137289955 G A SNP FAM13B ENST00000033079 human ensembl 69_37n -1 known missense c.1552 p.P518S 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 42 0 0.00 14 15 51.72 - - - FAM21C 0 genome.wustl.edu 37 10 46261214 46261214 + Missense_Mutation SNP T T A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 10 46261214 46261214 T A SNP FAM21C ENST00000374362 human ensembl 69_37n +1 known missense c.1825 p.S609T 0.000 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 302 0 0.00 319 151 32.13 - - - FAM21C 0 genome.wustl.edu 37 10 46261214 46261214 + Missense_Mutation SNP T T A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 10 46261214 46261214 T A SNP FAM21C ENST00000374362 human ensembl 69_37n +1 known missense c.1825 p.S609T 0.000 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 201 0 0.00 140 64 31.37 - - - FKBP7 0 genome.wustl.edu 37 2 179343153 179343153 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 2 179343153 179343153 C G SNP FKBP7 ENST00000424785 human ensembl 69_37n -1 known missense c.74 p.R25T 0.129 NULL pfam_PPIase_FKBP_dom,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP7 HGNC ENSG00000079150 143 0 0.00 193 50 20.58 - - - FKBP7 0 genome.wustl.edu 37 2 179343153 179343153 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 2 179343153 179343153 C G SNP FKBP7 ENST00000424785 human ensembl 69_37n -1 known missense c.74 p.R25T 0.129 NULL pfam_PPIase_FKBP_dom,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP7 HGNC ENSG00000079150 36 0 0.00 55 9 14.06 - - - FLG2 0 genome.wustl.edu 37 1 152329634 152329634 + Nonsense_Mutation SNP T T A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 152329634 152329634 T A SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known nonsense c.628 p.K210* 0.804 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 406 0 0.00 887 108 10.85 - - - FLG2 0 genome.wustl.edu 37 1 152329634 152329634 + Nonsense_Mutation SNP T T A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 152329634 152329634 T A SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known nonsense c.628 p.K210* 0.804 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 96 0 0.00 83 15 15.31 - - - FLNC 0 genome.wustl.edu 37 7 128485245 128485245 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 128485245 128485245 C T SNP FLNC ENST00000325888 human ensembl 69_37n +1 known silent c.3726 p.V1242 0.927 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 54 0 0.00 69 14 16.87 - - - FLNC 0 genome.wustl.edu 37 7 128485245 128485245 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 128485245 128485245 C T SNP FLNC ENST00000325888 human ensembl 69_37n +1 known silent c.3726 p.V1242 0.927 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 104 0 0.00 68 16 19.05 - - - FRG2B 0 genome.wustl.edu 37 10 135438635 135438635 + Missense_Mutation SNP T T G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 10 135438635 135438635 T G SNP FRG2B ENST00000443774 human ensembl 69_37n -1 known missense c.808 p.T270P 0.051 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 9 0 0.00 4 4 50.00 - - - FYTTD1 0 genome.wustl.edu 37 3 197505308 197505308 + Silent SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 3 197505308 197505308 G A SNP FYTTD1 ENST00000241502 human ensembl 69_37n +1 known silent c.831 p.Q277 1.000 pfam_DUF1346 pfam_DUF1346 - no_errors FYTTD1 HGNC ENSG00000122068 138 0 0.00 139 60 30.15 - - - FYTTD1 0 genome.wustl.edu 37 3 197505308 197505308 + Silent SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 3 197505308 197505308 G A SNP FYTTD1 ENST00000241502 human ensembl 69_37n +1 known silent c.831 p.Q277 1.000 pfam_DUF1346 pfam_DUF1346 - no_errors FYTTD1 HGNC ENSG00000122068 89 0 0.00 54 21 28.00 - - - GCLC 0 genome.wustl.edu 37 6 53373506 53373506 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 6 53373506 53373506 C G SNP GCLC ENST00000229416 human ensembl 69_37n -1 known missense c.832 p.A278P 1.000 pfam_GCS pfam_GCS - no_errors GCLC HGNC ENSG00000001084 139 0 0.00 63 63 50.00 - - - GCLC 0 genome.wustl.edu 37 6 53373506 53373506 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 6 53373506 53373506 C G SNP GCLC ENST00000229416 human ensembl 69_37n -1 known missense c.832 p.A278P 1.000 pfam_GCS pfam_GCS - no_errors GCLC HGNC ENSG00000001084 23 0 0.00 13 16 55.17 - - - GHRL 0 genome.wustl.edu 37 3 10328735 10328735 + RNA SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 3 10328735 10328735 C G SNP GHRL ENST00000475759 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GHRL HGNC ENSG00000157017 71 0 0.00 42 10 19.23 - - - HAS2 0 genome.wustl.edu 37 8 122626391 122626391 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 8 122626391 122626391 C A SNP HAS2 ENST00000303924 human ensembl 69_37n -1 known missense c.1617 p.R539S 1.000 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 276 0 0.00 410 123 23.08 - - - HAS2 0 genome.wustl.edu 37 8 122626391 122626391 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 8 122626391 122626391 C A SNP HAS2 ENST00000303924 human ensembl 69_37n -1 known missense c.1617 p.R539S 1.000 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 37 0 0.00 30 11 26.83 - - - IER5 0 genome.wustl.edu 37 1 181058504 181058504 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 181058504 181058504 G C SNP IER5 ENST00000367577 human ensembl 69_37n +1 known missense c.466 p.E156Q 0.000 pfam_IER pfam_IER - no_errors IER5 HGNC ENSG00000162783 10 0 0.00 2 7 77.78 - - - IGKV3D-20 0 genome.wustl.edu 37 2 90078144 90078144 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 2 90078144 90078144 C A SNP IGKV3D-20 ENST00000390270 human ensembl 69_37n +1 known missense c.181 p.P61T 0.985 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV3D-20 HGNC ENSG00000211625 257 0 0.00 226 126 35.80 - - - IGKV3D-20 0 genome.wustl.edu 37 2 90078144 90078144 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 2 90078144 90078144 C A SNP IGKV3D-20 ENST00000390270 human ensembl 69_37n +1 known missense c.181 p.P61T 0.985 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV3D-20 HGNC ENSG00000211625 157 0 0.00 114 45 28.30 - - - IL22RA1 0 genome.wustl.edu 37 1 24448186 24448186 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 24448186 24448186 G C SNP IL22RA1 ENST00000270800 human ensembl 69_37n -1 known missense c.834 p.I278M 1.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 99 0 0.00 78 26 25.00 - - - IL22RA1 0 genome.wustl.edu 37 1 24448186 24448186 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 24448186 24448186 G C SNP IL22RA1 ENST00000270800 human ensembl 69_37n -1 known missense c.834 p.I278M 1.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 28 0 0.00 12 6 33.33 - - - ILK 0 genome.wustl.edu 37 11 6630488 6630490 + RNA DEL GCA GCA - TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 11 6630488 6630490 GCA - DEL ILK ENST00000526711 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors ILK HGNC ENSG00000166333 26 0 0.00 15 3 16.67 - - - INTS4L2 0 genome.wustl.edu 37 7 65160020 65160020 + RNA SNP A A G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 65160020 65160020 A G SNP INTS4L2 ENST00000430126 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors INTS4L2 HGNC ENSG00000232270 141 0 0.00 106 17 13.82 - - - KCNN4 0 genome.wustl.edu 37 19 44278610 44278610 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 19 44278610 44278610 C T SNP KCNN4 ENST00000262888 human ensembl 69_37n -1 known silent c.417 p.Q139 0.264 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC ENSG00000104783 48 0 0.00 46 22 32.35 - - - KIF3B 0 genome.wustl.edu 37 20 30904100 30904100 + Missense_Mutation SNP A A T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 20 30904100 30904100 A T SNP KIF3B ENST00000375712 human ensembl 69_37n +1 known missense c.1484 p.K495I 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 184 0 0.00 302 109 26.52 - - - KIF3B 0 genome.wustl.edu 37 20 30904100 30904100 + Missense_Mutation SNP A A T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 20 30904100 30904100 A T SNP KIF3B ENST00000375712 human ensembl 69_37n +1 known missense c.1484 p.K495I 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 46 0 0.00 44 21 32.31 - - - KRT42P 0 genome.wustl.edu 37 17 39782585 39782585 + RNA SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 17 39782585 39782585 G C SNP KRT42P ENST00000398469 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors KRT42P HGNC ENSG00000214514 15 0 0.00 9 25 73.53 - - - KRTAP5-1 0 genome.wustl.edu 37 11 1606146 1606147 + In_Frame_Ins INS - - GCC TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 11 1606146 1606147 - GCC INS KRTAP5-1 ENST00000382171 human ensembl 69_37n -1 known in_frame_ins c.334_333 p.111in_frame_insG 0.458:0.354 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 15 0 0.00 14 5 26.32 - - - LRRC8C 0 genome.wustl.edu 37 1 90152042 90152042 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 90152042 90152042 G A SNP LRRC8C ENST00000370454 human ensembl 69_37n +1 known missense c.10 p.V4M 0.999 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 174 0 0.00 193 68 26.05 - - - LRRC8C 0 genome.wustl.edu 37 1 90152042 90152042 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 90152042 90152042 G A SNP LRRC8C ENST00000370454 human ensembl 69_37n +1 known missense c.10 p.V4M 0.999 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 63 0 0.00 27 9 25.00 - - - MACF1 0 genome.wustl.edu 37 1 39799297 39799297 + Missense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 39799297 39799297 C T SNP MACF1 ENST00000567887 human ensembl 69_37n +1 putative missense c.7148 p.T2383I 1.000 superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,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 MACF1 HGNC ENSG00000127603 136 0 0.00 121 66 35.29 - - - MACF1 0 genome.wustl.edu 37 1 39799297 39799297 + Missense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 39799297 39799297 C T SNP MACF1 ENST00000567887 human ensembl 69_37n +1 putative missense c.7148 p.T2383I 1.000 superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,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 MACF1 HGNC ENSG00000127603 56 0 0.00 42 26 38.24 - - - MAK16 0 genome.wustl.edu 37 8 33354179 33354179 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 8 33354179 33354179 G C SNP MAK16 ENST00000360128 human ensembl 69_37n +1 known missense c.559 p.D187H 1.000 pfam_Mak16,pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 397 0 0.00 169 84 33.20 - - - MAK16 0 genome.wustl.edu 37 8 33354179 33354179 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 8 33354179 33354179 G C SNP MAK16 ENST00000360128 human ensembl 69_37n +1 known missense c.559 p.D187H 1.000 pfam_Mak16,pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 66 0 0.00 17 5 22.73 - - - MMP13 0 genome.wustl.edu 37 11 102826194 102826194 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 11 102826194 102826194 G C SNP MMP13 ENST00000340273 human ensembl 69_37n -1 novel missense c.149 p.T50R 0.000 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP13 HGNC ENSG00000137745 194 0 0.00 163 45 21.63 - - - MMP13 0 genome.wustl.edu 37 11 102826194 102826194 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 11 102826194 102826194 G C SNP MMP13 ENST00000340273 human ensembl 69_37n -1 novel missense c.149 p.T50R 0.000 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP13 HGNC ENSG00000137745 77 0 0.00 34 14 29.17 - - - MUC12 0 genome.wustl.edu 37 7 100639970 100639970 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 100639970 100639970 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known silent c.6555 p.I2185 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 1232 0 0.00 1647 349 17.46 - - - MUC12 0 genome.wustl.edu 37 7 100639970 100639970 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 100639970 100639970 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known silent c.6555 p.I2185 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 221 0 0.00 199 45 18.44 - - - MYO9A 0 genome.wustl.edu 37 15 72311424 72311424 + Missense_Mutation SNP G G T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 15 72311424 72311424 G T SNP MYO9A ENST00000424560 human ensembl 69_37n -1 known missense c.1111 p.P371T 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 41 0 0.00 24 4 14.29 - - - NBPF10 0 genome.wustl.edu 37 1 145311839 145311839 + Missense_Mutation SNP A A T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 145311839 145311839 A T SNP NBPF10 ENST00000369338 human ensembl 69_37n +1 known missense c.1088 p.Q363L 0.001 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 120 1 0.83 71 11 13.41 - - - NDRG1 0 genome.wustl.edu 37 8 134251151 134251151 + Silent SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 8 134251151 134251151 G C SNP NDRG1 ENST00000323851 human ensembl 69_37n -1 known silent c.1155 p.A385 0.005 NULL pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 46 0 0.00 47 23 32.86 - - - NGEF 0 genome.wustl.edu 37 2 233785249 233785249 + Silent SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 2 233785249 233785249 G A SNP NGEF ENST00000264051 human ensembl 69_37n -1 known silent c.573 p.I191 0.850 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 NGEF HGNC ENSG00000066248 55 0 0.00 52 30 36.14 - - - NGEF 0 genome.wustl.edu 37 2 233785249 233785249 + Silent SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 2 233785249 233785249 G A SNP NGEF ENST00000264051 human ensembl 69_37n -1 known silent c.573 p.I191 0.850 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 NGEF HGNC ENSG00000066248 115 0 0.00 34 16 32.00 - - - NME7 0 genome.wustl.edu 37 1 169256497 169256497 + RNA SNP T T A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 169256497 169256497 T A SNP NME7 ENST00000469474 human ensembl 69_37n -1 known rna NULL NULL 0.137 - - - no_errors NME7 HGNC ENSG00000143156 26 0 0.00 15 9 37.50 - - - NMUR2 0 genome.wustl.edu 37 5 151784051 151784051 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 5 151784051 151784051 C A SNP NMUR2 ENST00000255262 human ensembl 69_37n -1 known missense c.624 p.K208N 0.963 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NeuromedU_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 240 0 0.00 202 63 23.77 - - - NMUR2 0 genome.wustl.edu 37 5 151784051 151784051 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 5 151784051 151784051 C A SNP NMUR2 ENST00000255262 human ensembl 69_37n -1 known missense c.624 p.K208N 0.963 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NeuromedU_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 114 0 0.00 29 13 30.95 - - - NOS2 0 genome.wustl.edu 37 17 26101297 26101297 + Missense_Mutation SNP A A C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 17 26101297 26101297 A C SNP NOS2 ENST00000313735 human ensembl 69_37n -1 known missense c.1462 p.F488V 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 239 0 0.00 128 61 32.28 - - - NOS2 0 genome.wustl.edu 37 17 26101297 26101297 + Missense_Mutation SNP A A C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 17 26101297 26101297 A C SNP NOS2 ENST00000313735 human ensembl 69_37n -1 known missense c.1462 p.F488V 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 40 0 0.00 19 14 42.42 - - - NOTCH2 0 genome.wustl.edu 37 1 120611960 120611960 + Missense_Mutation SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 120611960 120611960 C T SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.61 p.A21T 0.990 pirsf_Notch pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 20 0 0.00 14 4 22.22 - - - NR1D1 0 genome.wustl.edu 37 17 38252225 38252225 + Silent SNP T T A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 17 38252225 38252225 T A SNP NR1D1 ENST00000246672 human ensembl 69_37n -1 known silent c.720 p.S240 0.913 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 14 0 0.00 9 14 60.87 - - - NUP205 0 genome.wustl.edu 37 7 135287613 135287613 + Frame_Shift_Del DEL A A - TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 135287613 135287613 A - DEL NUP205 ENST00000285968 human ensembl 69_37n +1 known frame_shift_del c.2573 p.K859fs 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 157 0 0.00 305 93 23.13 - - - NUP205 0 genome.wustl.edu 37 7 135287613 135287613 + Frame_Shift_Del DEL A A - TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 135287613 135287613 A - DEL NUP205 ENST00000285968 human ensembl 69_37n +1 known frame_shift_del c.2573 p.K859fs 1.000 pfam_DUF3414 pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 80 0 0.00 95 26 21.49 - - - NUPL2 0 genome.wustl.edu 37 7 23239963 23239963 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 23239963 23239963 G C SNP NUPL2 ENST00000258742 human ensembl 69_37n +1 known missense c.871 p.G291R 0.999 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 177 0 0.00 213 104 32.81 - - - NUPL2 0 genome.wustl.edu 37 7 23239963 23239963 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 23239963 23239963 G C SNP NUPL2 ENST00000258742 human ensembl 69_37n +1 known missense c.871 p.G291R 0.999 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 75 0 0.00 43 23 34.85 - - - O3FAR1 0 genome.wustl.edu 37 10 95326768 95326768 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 10 95326768 95326768 C T SNP O3FAR1 ENST00000371483 human ensembl 69_37n +1 known silent c.291 p.A97 0.168 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors O3FAR1 HGNC ENSG00000186188 70 0 0.00 31 54 62.79 - - - O3FAR1 0 genome.wustl.edu 37 10 95326768 95326768 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 10 95326768 95326768 C T SNP O3FAR1 ENST00000371483 human ensembl 69_37n +1 known silent c.291 p.A97 0.168 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors O3FAR1 HGNC ENSG00000186188 160 0 0.00 38 50 56.82 - - - OR52D1 0 genome.wustl.edu 37 11 5510400 5510400 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 11 5510400 5510400 G C SNP OR52D1 ENST00000322641 human ensembl 69_37n +1 known missense c.464 p.S155T 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,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 OR52D1 HGNC ENSG00000181609 484 0 0.00 302 114 27.34 - - - OR52D1 0 genome.wustl.edu 37 11 5510400 5510400 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 11 5510400 5510400 G C SNP OR52D1 ENST00000322641 human ensembl 69_37n +1 known missense c.464 p.S155T 0.001 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,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 OR52D1 HGNC ENSG00000181609 60 0 0.00 18 8 30.77 - - - OR5T3 0 genome.wustl.edu 37 11 56020650 56020650 + Silent SNP A A G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 11 56020650 56020650 A G SNP OR5T3 ENST00000303059 human ensembl 69_37n +1 known silent c.975 p.K325 0.749 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5T3 HGNC ENSG00000172489 126 0 0.00 46 66 58.93 - - - OR5T3 0 genome.wustl.edu 37 11 56020650 56020650 + Silent SNP A A G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 11 56020650 56020650 A G SNP OR5T3 ENST00000303059 human ensembl 69_37n +1 known silent c.975 p.K325 0.749 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5T3 HGNC ENSG00000172489 77 0 0.00 31 20 39.22 - - - OVCH2 0 genome.wustl.edu 37 11 7723282 7723282 + Silent SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 11 7723282 7723282 G C SNP OVCH2 ENST00000454689 human ensembl 69_37n -1 known silent c.540 p.G180 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,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH2 HGNC ENSG00000183378 84 0 0.00 70 20 22.22 - - - OVCH2 0 genome.wustl.edu 37 11 7723282 7723282 + Silent SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 11 7723282 7723282 G C SNP OVCH2 ENST00000454689 human ensembl 69_37n -1 known silent c.540 p.G180 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,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH2 HGNC ENSG00000183378 29 0 0.00 11 3 21.43 - - - PAXIP1 0 genome.wustl.edu 37 7 154760837 154760837 + Splice_Site SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 154760837 154760837 C T SNP PAXIP1 ENST00000397192 human ensembl 69_37n -1 known splice_site c.1075-1 e7-1 1.000 - - - no_errors PAXIP1 HGNC ENSG00000157212 232 0 0.00 319 39 10.89 - - - PAXIP1 0 genome.wustl.edu 37 7 154760837 154760837 + Splice_Site SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 154760837 154760837 C T SNP PAXIP1 ENST00000397192 human ensembl 69_37n -1 known splice_site c.1075-1 e7-1 1.000 - - - no_errors PAXIP1 HGNC ENSG00000157212 103 0 0.00 98 15 13.27 - - - PCBP2 0 genome.wustl.edu 37 12 53853067 53853067 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 12 53853067 53853067 C G SNP PCBP2 ENST00000546463 human ensembl 69_37n +1 known missense c.255 p.S85R 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP2 HGNC ENSG00000197111 216 0 0.00 137 96 41.20 - - - PCBP2 0 genome.wustl.edu 37 12 53853067 53853067 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 12 53853067 53853067 C G SNP PCBP2 ENST00000546463 human ensembl 69_37n +1 known missense c.255 p.S85R 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP2 HGNC ENSG00000197111 74 0 0.00 31 20 39.22 - - - PCDH19 0 genome.wustl.edu 37 X 99551448 99551448 + Missense_Mutation SNP G G T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 X 99551448 99551448 G T SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known missense c.3274 p.R1092S 0.979 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 314 0 0.00 127 117 47.95 - - - PCDH19 0 genome.wustl.edu 37 X 99551448 99551448 + Missense_Mutation SNP G G T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b X 99551448 99551448 G T SNP PCDH19 ENST00000373034 human ensembl 69_37n -1 known missense c.3274 p.R1092S 0.979 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 76 0 0.00 16 19 54.29 - - - PDCD6 0 genome.wustl.edu 37 5 314701 314701 + Missense_Mutation SNP A A G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 5 314701 314701 A G SNP PDCD6 ENST00000502359 human ensembl 69_37n +1 putative missense c.329 p.N110S 0.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PDCD6 HGNC ENSG00000249915 91 0 0.00 85 88 50.87 - - - PDCD6 0 genome.wustl.edu 37 5 314701 314701 + Missense_Mutation SNP A A G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 5 314701 314701 A G SNP PDCD6 ENST00000502359 human ensembl 69_37n +1 putative missense c.329 p.N110S 0.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PDCD6 HGNC ENSG00000249915 63 0 0.00 42 52 55.32 - - - PHF14 0 genome.wustl.edu 37 7 11022150 11022150 + Silent SNP A A G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 11022150 11022150 A G SNP PHF14 ENST00000403050 human ensembl 69_37n +1 known silent c.264 p.E88 0.857 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 25 0 0.00 33 22 40.00 - - - PIPSL 0 genome.wustl.edu 37 10 95719726 95719726 + RNA SNP A A C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 10 95719726 95719726 A C SNP PIPSL ENST00000480546 human ensembl 69_37n -1 putative rna NULL NULL 0.742 - - - no_errors PIPSL HGNC ENSG00000180764 248 0 0.00 91 97 51.60 - - - PIPSL 0 genome.wustl.edu 37 10 95719726 95719726 + RNA SNP A A C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 10 95719726 95719726 A C SNP PIPSL ENST00000480546 human ensembl 69_37n -1 putative rna NULL NULL 0.742 - - - no_errors PIPSL HGNC ENSG00000180764 138 0 0.00 40 29 42.03 - - - PLEC 0 genome.wustl.edu 37 8 144995865 144995865 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 8 144995865 144995865 C G SNP PLEC ENST00000322810 human ensembl 69_37n -1 known missense c.8535 p.E2845D 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 42 0 0.00 41 25 37.88 - - - PLEC 0 genome.wustl.edu 37 8 144995865 144995865 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 8 144995865 144995865 C G SNP PLEC ENST00000322810 human ensembl 69_37n -1 known missense c.8535 p.E2845D 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 31 0 0.00 26 4 13.33 - - - POLE3 0 genome.wustl.edu 37 9 116171999 116172001 + In_Frame_Del DEL GTT GTT - TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 9 116171999 116172001 GTT - DEL POLE3 ENST00000374169 human ensembl 69_37n -1 known in_frame_del c.162_160 p.N54in_frame_del 1.000:1.000:1.000 pfam_CBFA_NFYB_domain,superfamily_Histone-fold pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors POLE3 HGNC ENSG00000148229 136 0 0.00 73 77 51.33 - - - POLE3 0 genome.wustl.edu 37 9 116171999 116172001 + In_Frame_Del DEL GTT GTT - TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 9 116171999 116172001 GTT - DEL POLE3 ENST00000374169 human ensembl 69_37n -1 known in_frame_del c.162_160 p.N54in_frame_del 1.000:1.000:1.000 pfam_CBFA_NFYB_domain,superfamily_Histone-fold pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors POLE3 HGNC ENSG00000148229 63 0 0.00 26 13 33.33 - - - PPA1 0 genome.wustl.edu 37 10 71978538 71978538 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 10 71978538 71978538 C A SNP PPA1 ENST00000373232 human ensembl 69_37n -1 known missense c.159 p.W53C 1.000 pfam_Pyrophosphatase,superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA1 HGNC ENSG00000180817 219 0 0.00 235 40 14.49 - - - PPA1 0 genome.wustl.edu 37 10 71978538 71978538 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 10 71978538 71978538 C A SNP PPA1 ENST00000373232 human ensembl 69_37n -1 known missense c.159 p.W53C 1.000 pfam_Pyrophosphatase,superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA1 HGNC ENSG00000180817 38 0 0.00 24 5 17.24 - - - PRF1 0 genome.wustl.edu 37 10 72357869 72357869 + Silent SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 10 72357869 72357869 G A SNP PRF1 ENST00000318971 human ensembl 69_37n -1 known silent c.1608 p.D536 0.266 NULL pfam_MACPF,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_MACPF,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors PRF1 HGNC ENSG00000180644 141 0 0.00 193 23 10.65 - - - PRKDC 0 genome.wustl.edu 37 8 48730110 48730110 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 8 48730110 48730110 G C SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.9455 p.S3152C 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 258 0 0.00 204 107 34.41 - - - PRKDC 0 genome.wustl.edu 37 8 48730110 48730110 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 8 48730110 48730110 G C SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.9455 p.S3152C 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 65 0 0.00 65 33 33.67 - - - PRPF38B 0 genome.wustl.edu 37 1 109241420 109241423 + Frame_Shift_Del DEL AGAC AGAC - TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 AGAC AGAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 109241420 109241423 AGAC - DEL PRPF38B ENST00000370025 human ensembl 69_37n +1 known frame_shift_del c.753_756 p.R253fs 1.000:1.000:1.000:0.998 NULL pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 104 0 0.00 109 48 30.57 - - - PRPF38B 0 genome.wustl.edu 37 1 109241420 109241423 + Frame_Shift_Del DEL AGAC AGAC - TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 AGAC AGAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 109241420 109241423 AGAC - DEL PRPF38B ENST00000370025 human ensembl 69_37n +1 known frame_shift_del c.753_756 p.R253fs 1.000:1.000:1.000:0.998 NULL pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 29 0 0.00 25 11 30.56 - - - PTPLAD1 0 genome.wustl.edu 37 15 65851018 65851020 + In_Frame_Del DEL GAA GAA - TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 15 65851018 65851020 GAA - DEL PTPLAD1 ENST00000261875 human ensembl 69_37n +1 known in_frame_del c.370_372 p.E126in_frame_del 1.000:1.000:1.000 NULL pfam_Tyr_Pase-like_PTPLA,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors PTPLAD1 HGNC ENSG00000074696 168 0 0.00 274 43 13.52 - - - PTPLAD1 0 genome.wustl.edu 37 15 65851018 65851020 + In_Frame_Del DEL GAA GAA - TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 15 65851018 65851020 GAA - DEL PTPLAD1 ENST00000261875 human ensembl 69_37n +1 known in_frame_del c.370_372 p.E126in_frame_del 1.000:1.000:1.000 NULL pfam_Tyr_Pase-like_PTPLA,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors PTPLAD1 HGNC ENSG00000074696 75 0 0.00 82 13 13.54 - - - PTPRB 0 genome.wustl.edu 37 12 70974955 70974955 + Silent SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 12 70974955 70974955 G C SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known silent c.2439 p.V813 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 214 0 0.00 83 73 46.79 - - - PTPRB 0 genome.wustl.edu 37 12 70974955 70974955 + Silent SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 12 70974955 70974955 G C SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known silent c.2439 p.V813 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 104 0 0.00 27 34 55.74 - - - RANBP3 0 genome.wustl.edu 37 19 5917815 5917815 + Silent SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 19 5917815 5917815 G A SNP RANBP3 ENST00000340578 human ensembl 69_37n -1 known silent c.1650 p.A550 0.004 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 53 0 0.00 17 19 52.78 - - - RANBP3 0 genome.wustl.edu 37 19 5917815 5917815 + Silent SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 19 5917815 5917815 G A SNP RANBP3 ENST00000340578 human ensembl 69_37n -1 known silent c.1650 p.A550 0.004 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 124 0 0.00 41 29 41.43 - - - RARG 0 genome.wustl.edu 37 12 53609502 53609502 + Nonsense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 12 53609502 53609502 G C SNP RARG ENST00000394426 human ensembl 69_37n -1 known nonsense c.261 p.Y87* 1.000 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 169 0 0.00 166 52 23.42 - - - RARG 0 genome.wustl.edu 37 12 53609502 53609502 + Nonsense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 12 53609502 53609502 G C SNP RARG ENST00000394426 human ensembl 69_37n -1 known nonsense c.261 p.Y87* 1.000 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC ENSG00000172819 87 0 0.00 48 9 15.79 - - - RASA3 0 genome.wustl.edu 37 13 114773080 114773080 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 13 114773080 114773080 G C SNP RASA3 ENST00000334062 human ensembl 69_37n -1 known missense c.1671 p.F557L 0.997 superfamily_Rho_GTPase_activation_prot,smart_RasGAP 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 265 0 0.00 124 202 61.59 - - - RASA3 0 genome.wustl.edu 37 13 114773080 114773080 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 13 114773080 114773080 G C SNP RASA3 ENST00000334062 human ensembl 69_37n -1 known missense c.1671 p.F557L 0.997 superfamily_Rho_GTPase_activation_prot,smart_RasGAP 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 86 0 0.00 22 26 54.17 - - - RASL11B 0 genome.wustl.edu 37 4 53731906 53731906 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 4 53731906 53731906 G C SNP RASL11B ENST00000248706 human ensembl 69_37n +1 known missense c.681 p.M227I 1.000 NULL 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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL11B HGNC ENSG00000128045 105 0 0.00 59 27 31.03 - - - RASSF7 0 genome.wustl.edu 37 11 561784 561784 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 11 561784 561784 G C SNP RASSF7 ENST00000344375 human ensembl 69_37n +1 known missense c.16 p.A6P 0.000 smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC ENSG00000099849 92 0 0.00 34 50 59.52 - - - RASSF7 0 genome.wustl.edu 37 11 561784 561784 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 11 561784 561784 G C SNP RASSF7 ENST00000344375 human ensembl 69_37n +1 known missense c.16 p.A6P 0.000 smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC ENSG00000099849 102 0 0.00 24 24 50.00 - - - RBM33 0 genome.wustl.edu 37 7 155473489 155473489 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 155473489 155473489 G A SNP RBM33 ENST00000401878 human ensembl 69_37n +1 known missense c.454 p.E152K 0.041 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 270 0 0.00 344 121 26.02 - - - RBM33 0 genome.wustl.edu 37 7 155473489 155473489 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 155473489 155473489 G A SNP RBM33 ENST00000401878 human ensembl 69_37n +1 known missense c.454 p.E152K 0.041 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 72 0 0.00 49 17 25.76 - - - RGS17 0 genome.wustl.edu 37 6 153345454 153345454 + Frame_Shift_Del DEL A A - TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 6 153345454 153345454 A - DEL RGS17 ENST00000206262 human ensembl 69_37n -1 known frame_shift_del c.387 p.I129fs 0.949 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS17 HGNC ENSG00000091844 342 0 0.00 166 154 47.53 - - - RGS17 0 genome.wustl.edu 37 6 153345454 153345454 + Frame_Shift_Del DEL A A - TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 6 153345454 153345454 A - DEL RGS17 ENST00000206262 human ensembl 69_37n -1 known frame_shift_del c.387 p.I129fs 0.949 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS17 HGNC ENSG00000091844 42 0 0.00 10 26 70.27 - - - RGS7 0 genome.wustl.edu 37 1 240966282 240966282 + Nonsense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 240966282 240966282 G C SNP RGS7 ENST00000407727 human ensembl 69_37n -1 known nonsense c.1281 p.Y427* 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal 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 RGS7 HGNC ENSG00000182901 206 1 0.48 319 123 27.77 - - - RGS7 0 genome.wustl.edu 37 1 240966282 240966282 + Nonsense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 240966282 240966282 G C SNP RGS7 ENST00000407727 human ensembl 69_37n -1 known nonsense c.1281 p.Y427* 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal 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 RGS7 HGNC ENSG00000182901 87 0 0.00 113 23 16.91 - - - RPS6KA2 0 genome.wustl.edu 37 6 166918092 166918092 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 6 166918092 166918092 G C SNP RPS6KA2 ENST00000510118 human ensembl 69_37n -1 known missense c.543 p.F181L 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_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC ENSG00000071242 176 0 0.00 79 96 54.86 - - - RPS6KA2 0 genome.wustl.edu 37 6 166918092 166918092 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 6 166918092 166918092 G C SNP RPS6KA2 ENST00000510118 human ensembl 69_37n -1 known missense c.543 p.F181L 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_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC ENSG00000071242 49 0 0.00 6 14 70.00 - - - RUNDC3B 0 genome.wustl.edu 37 7 87258230 87258230 + Missense_Mutation SNP G G T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 87258230 87258230 G T SNP RUNDC3B ENST00000338056 human ensembl 69_37n +1 known missense c.91 p.V31L 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 18 0 0.00 19 13 40.62 - - - RUNDC3B 0 genome.wustl.edu 37 7 87258230 87258230 + Missense_Mutation SNP G G T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 87258230 87258230 G T SNP RUNDC3B ENST00000338056 human ensembl 69_37n +1 known missense c.91 p.V31L 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 15 0 0.00 15 8 34.78 - - - SGSH 0 genome.wustl.edu 37 17 78188424 78188424 + Nonsense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 17 78188424 78188424 G C SNP SGSH ENST00000572257 human ensembl 69_37n -1 putative nonsense c.98 p.S33* 0.962 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SGSH HGNC ENSG00000181523 93 0 0.00 82 39 32.23 - - - SGSH 0 genome.wustl.edu 37 17 78188424 78188424 + Nonsense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 17 78188424 78188424 G C SNP SGSH ENST00000572257 human ensembl 69_37n -1 putative nonsense c.98 p.S33* 0.962 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SGSH HGNC ENSG00000181523 82 0 0.00 62 31 33.33 - - - SHROOM2 0 genome.wustl.edu 37 X 9864381 9864381 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 X 9864381 9864381 G C SNP SHROOM2 ENST00000380913 human ensembl 69_37n +1 known missense c.2433 p.R811S 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 104 1 0.95 121 35 22.44 - - - SHROOM2 0 genome.wustl.edu 37 X 9864381 9864381 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b X 9864381 9864381 G C SNP SHROOM2 ENST00000380913 human ensembl 69_37n +1 known missense c.2433 p.R811S 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 63 0 0.00 44 14 24.14 - - - SIAH1 0 genome.wustl.edu 37 16 48396330 48396330 + Nonsense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 16 48396330 48396330 G A SNP SIAH1 ENST00000356721 human ensembl 69_37n -1 known nonsense c.103 p.Q35* 1.000 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH1 HGNC ENSG00000196470 126 0 0.00 71 24 25.26 - - - SIAH1 0 genome.wustl.edu 37 16 48396330 48396330 + Nonsense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 16 48396330 48396330 G A SNP SIAH1 ENST00000356721 human ensembl 69_37n -1 known nonsense c.103 p.Q35* 1.000 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH1 HGNC ENSG00000196470 49 0 0.00 20 9 31.03 - - - SLC23A3 0 genome.wustl.edu 37 2 220032945 220032945 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 2 220032945 220032945 G C SNP SLC23A3 ENST00000455516 human ensembl 69_37n -1 known missense c.794 p.T265S 0.001 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 94 0 0.00 94 18 16.07 - - - SLC23A3 0 genome.wustl.edu 37 2 220032945 220032945 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 2 220032945 220032945 G C SNP SLC23A3 ENST00000455516 human ensembl 69_37n -1 known missense c.794 p.T265S 0.001 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 47 0 0.00 21 6 22.22 - - - SPEN 0 genome.wustl.edu 37 1 16261459 16261459 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 16261459 16261459 C T SNP SPEN ENST00000375759 human ensembl 69_37n +1 known silent c.8724 p.S2908 0.049 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 114 0 0.00 26 33 55.93 - - - SPEN 0 genome.wustl.edu 37 1 16261459 16261459 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 16261459 16261459 C T SNP SPEN ENST00000375759 human ensembl 69_37n +1 known silent c.8724 p.S2908 0.049 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 13 0 0.00 7 6 46.15 - - - SSPO 0 genome.wustl.edu 37 7 149482817 149482817 + RNA SNP A A C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 149482817 149482817 A C SNP SSPO ENST00000262089 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 66 0 0.00 45 24 34.78 - - - STARD9 0 genome.wustl.edu 37 15 42976692 42976692 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 15 42976692 42976692 C T SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known silent c.2916 p.T972 0.004 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 108 0 0.00 39 47 54.65 - - - STARD9 0 genome.wustl.edu 37 15 42976692 42976692 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 15 42976692 42976692 C T SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known silent c.2916 p.T972 0.004 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 52 0 0.00 11 16 59.26 - - - STRA6 0 genome.wustl.edu 37 15 74472355 74472355 + RNA SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 15 74472355 74472355 G C SNP STRA6 ENST00000574439 human ensembl 69_37n -1 known rna NULL NULL 0.020 - - - no_errors STRA6 HGNC ENSG00000137868 86 0 0.00 44 11 20.00 - - - STX6 0 genome.wustl.edu 37 1 180959152 180959152 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 180959152 180959152 G C SNP STX6 ENST00000258301 human ensembl 69_37n -1 known missense c.457 p.H153D 1.000 NULL pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 85 0 0.00 104 14 11.86 - - - SYNC 0 genome.wustl.edu 37 1 33160479 33160479 + Missense_Mutation SNP A A G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 33160479 33160479 A G SNP SYNC ENST00000409190 human ensembl 69_37n -1 known missense c.1220 p.V407A 1.000 pfam_F pfam_F - no_errors SYNC HGNC ENSG00000162520 56 0 0.00 38 19 33.33 - - - TEKT5 0 genome.wustl.edu 37 16 10769864 10769864 + Silent SNP G G T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 16 10769864 10769864 G T SNP TEKT5 ENST00000283025 human ensembl 69_37n -1 known silent c.1038 p.I346 0.999 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 66 0 0.00 43 6 12.24 - - - TJP1 0 genome.wustl.edu 37 15 30025016 30025016 + Silent SNP A A C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 15 30025016 30025016 A C SNP TJP1 ENST00000346128 human ensembl 69_37n -1 known silent c.1740 p.A580 1.000 pfam_SH3_2,superfamily_SH3_domain,pfscan_SH3_domain pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 35 0 0.00 5 9 64.29 - - - TMEM120B 0 genome.wustl.edu 37 12 122213016 122213016 + Nonsense_Mutation SNP G G T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 12 122213016 122213016 G T SNP TMEM120B ENST00000342607 human ensembl 69_37n +1 known nonsense c.886 p.E296* 0.990 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC ENSG00000188735 69 0 0.00 23 23 50.00 - - - TMEM220 0 genome.wustl.edu 37 17 10632347 10632347 + Splice_Site SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 17 10632347 10632347 C A SNP TMEM220 ENST00000341871 human ensembl 69_37n -1 known splice_site c.102+1 e2+1 1.000 - - - no_errors TMEM220 HGNC ENSG00000187824 168 0 0.00 105 40 27.59 - - - TMEM220 0 genome.wustl.edu 37 17 10632347 10632347 + Splice_Site SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 17 10632347 10632347 C A SNP TMEM220 ENST00000341871 human ensembl 69_37n -1 known splice_site c.102+1 e2+1 1.000 - - - no_errors TMEM220 HGNC ENSG00000187824 57 0 0.00 36 14 28.00 - - - TP53 0 genome.wustl.edu 37 17 7578188 7578188 + Nonsense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 17 7578188 7578188 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.661 p.E221* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 296 0 0.00 133 365 73.29 - - - TP53 0 genome.wustl.edu 37 17 7578188 7578188 + Nonsense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 17 7578188 7578188 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.661 p.E221* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 80 0 0.00 34 48 58.54 - - - TRGJP 0 genome.wustl.edu 37 7 38313225 38313225 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 38313225 38313225 G C SNP TRGJP ENST00000390338 human ensembl 69_37n -1 known missense c.24 p.I8M 0.002 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region TRGJP HGNC ENSG00000211691 159 0 0.00 421 62 12.84 - - - TRGJP 0 genome.wustl.edu 37 7 38313225 38313225 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 38313225 38313225 G C SNP TRGJP ENST00000390338 human ensembl 69_37n -1 known missense c.24 p.I8M 0.002 NULL NULL - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region TRGJP HGNC ENSG00000211691 91 0 0.00 100 14 12.28 - - - TRMT2A 0 genome.wustl.edu 37 22 20100266 20100266 + Nonsense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 22 20100266 20100266 G C SNP TRMT2A ENST00000444256 human ensembl 69_37n -1 novel nonsense c.251 p.S84* 0.997 NULL NULL - no_start_codon:pseudogene:no_stop_codon TRMT2A HGNC ENSG00000099899 48 0 0.00 61 21 25.61 - - - TRMT2A 0 genome.wustl.edu 37 22 20100266 20100266 + Nonsense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 22 20100266 20100266 G C SNP TRMT2A ENST00000444256 human ensembl 69_37n -1 novel nonsense c.251 p.S84* 0.997 NULL NULL - no_start_codon:pseudogene:no_stop_codon TRMT2A HGNC ENSG00000099899 49 0 0.00 33 16 32.65 - - - TRPM3 0 genome.wustl.edu 37 9 73399144 73399144 + Missense_Mutation SNP T T C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 9 73399144 73399144 T C SNP TRPM3 ENST00000423814 human ensembl 69_37n -1 known missense c.1106 p.N369S 0.997 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 148 0 0.00 112 34 23.29 - - - TSGA13 0 genome.wustl.edu 37 7 130357607 130357607 + Missense_Mutation SNP T T A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 130357607 130357607 T A SNP TSGA13 ENST00000356588 human ensembl 69_37n -1 known missense c.497 p.D166V 0.000 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 394 0 0.00 502 98 16.28 - - - TSGA13 0 genome.wustl.edu 37 7 130357607 130357607 + Missense_Mutation SNP T T A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 130357607 130357607 T A SNP TSGA13 ENST00000356588 human ensembl 69_37n -1 known missense c.497 p.D166V 0.000 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 100 0 0.00 79 21 21.00 - - - TTF2 0 genome.wustl.edu 37 1 117620594 117620594 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 1 117620594 117620594 G A SNP TTF2 ENST00000369466 human ensembl 69_37n +1 known missense c.1630 p.G544S 1.000 NULL 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 227 1 0.44 210 86 29.05 - - - TTF2 0 genome.wustl.edu 37 1 117620594 117620594 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 117620594 117620594 G A SNP TTF2 ENST00000369466 human ensembl 69_37n +1 known missense c.1630 p.G544S 1.000 NULL 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 65 0 0.00 41 9 18.00 - - - TUBB 0 genome.wustl.edu 37 6 30691194 30691194 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 6 30691194 30691194 G A SNP TUBB ENST00000327892 human ensembl 69_37n +1 known missense c.355 p.V119M 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB HGNC ENSG00000196230 174 1 0.57 63 71 52.99 - - - TUBB 0 genome.wustl.edu 37 6 30691194 30691194 + Missense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 6 30691194 30691194 G A SNP TUBB ENST00000327892 human ensembl 69_37n +1 known missense c.355 p.V119M 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB HGNC ENSG00000196230 116 0 0.00 30 29 49.15 - - - UBE3C 0 genome.wustl.edu 37 7 157046809 157046809 + Silent SNP C C G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 7 157046809 157046809 C G SNP UBE3C ENST00000348165 human ensembl 69_37n +1 known silent c.2856 p.L952 0.993 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 116 0 0.00 170 59 25.76 - - - UBE3C 0 genome.wustl.edu 37 7 157046809 157046809 + Silent SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 7 157046809 157046809 C G SNP UBE3C ENST00000348165 human ensembl 69_37n +1 known silent c.2856 p.L952 0.993 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 67 0 0.00 72 31 30.10 - - - UGT1A4 0 genome.wustl.edu 37 2 234676964 234676964 + Missense_Mutation SNP G G T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 2 234676964 234676964 G T SNP UGT1A4 ENST00000373409 human ensembl 69_37n +1 known missense c.1186 p.G396C 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 413 0 0.00 315 71 18.39 - - - UMODL1 0 genome.wustl.edu 37 21 43542941 43542941 + Missense_Mutation SNP G G T TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 21 43542941 43542941 G T SNP UMODL1 ENST00000408989 human ensembl 69_37n +1 known missense c.3212 p.G1071V 0.979 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMODL1 HGNC ENSG00000177398 93 0 0.00 95 24 20.17 - - - UMODL1 0 genome.wustl.edu 37 21 43542941 43542941 + Missense_Mutation SNP G G T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 21 43542941 43542941 G T SNP UMODL1 ENST00000408989 human ensembl 69_37n +1 known missense c.3212 p.G1071V 0.979 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors UMODL1 HGNC ENSG00000177398 59 0 0.00 48 16 25.00 - - - USPL1 0 genome.wustl.edu 37 13 31205414 31205414 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 13 31205414 31205414 C A SNP USPL1 ENST00000255304 human ensembl 69_37n +1 known missense c.671 p.A224D 0.018 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 317 0 0.00 134 155 53.45 - - - USPL1 0 genome.wustl.edu 37 13 31205414 31205414 + Missense_Mutation SNP C C A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 13 31205414 31205414 C A SNP USPL1 ENST00000255304 human ensembl 69_37n +1 known missense c.671 p.A224D 0.018 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 100 0 0.00 37 25 40.32 - - - VPS13A 0 genome.wustl.edu 37 9 79890418 79890418 + Silent SNP A A G TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 9 79890418 79890418 A G SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known silent c.2517 p.S839 0.986 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 208 0 0.00 103 155 59.85 - - - VPS13A 0 genome.wustl.edu 37 9 79890418 79890418 + Silent SNP A A G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 9 79890418 79890418 A G SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known silent c.2517 p.S839 0.986 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 58 0 0.00 16 20 55.56 - - - VWA8 0 genome.wustl.edu 37 13 42263507 42263509 + In_Frame_Del DEL CAA CAA - TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 CAA CAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 13 42263507 42263509 CAA - DEL VWA8 ENST00000379310 human ensembl 69_37n -1 known in_frame_del c.4114_4112 p.V1371in_frame_del 1.000:1.000:1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 180 0 0.00 189 55 22.18 - - - VWA8 0 genome.wustl.edu 37 13 42263507 42263509 + In_Frame_Del DEL CAA CAA - TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 CAA CAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 13 42263507 42263509 CAA - DEL VWA8 ENST00000379310 human ensembl 69_37n -1 known in_frame_del c.4114_4112 p.V1371in_frame_del 1.000:1.000:1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 57 0 0.00 36 10 21.28 - - - WDFY4 0 genome.wustl.edu 37 10 49939380 49939380 + Missense_Mutation SNP T T C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 10 49939380 49939380 T C SNP WDFY4 ENST00000325239 human ensembl 69_37n +1 known missense c.1355 p.L452P 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 WDFY4 HGNC ENSG00000128815 137 0 0.00 160 32 16.67 - - - WDFY4 0 genome.wustl.edu 37 10 49939380 49939380 + Missense_Mutation SNP T T C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 10 49939380 49939380 T C SNP WDFY4 ENST00000325239 human ensembl 69_37n +1 known missense c.1355 p.L452P 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 WDFY4 HGNC ENSG00000128815 52 0 0.00 41 11 21.15 - - - WNT8B 0 genome.wustl.edu 37 10 102242188 102242188 + Missense_Mutation SNP C C G TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 10 102242188 102242188 C G SNP WNT8B ENST00000343737 human ensembl 69_37n +1 known missense c.671 p.A224G 0.990 pfam_Wnt,smart_Wnt,prints_Wnt8 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8B HGNC ENSG00000075290 37 0 0.00 8 9 52.94 - - - ZC3H12A 0 genome.wustl.edu 37 1 37949403 37949403 + RNA SNP T T C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 1 37949403 37949403 T C SNP ZC3H12A ENST00000492829 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ZC3H12A HGNC ENSG00000163874 8 0 0.00 5 4 44.44 - - - ZNF451 0 genome.wustl.edu 37 6 56955148 56955148 + RNA SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 6 56955148 56955148 C T SNP ZNF451 ENST00000477046 human ensembl 69_37n +1 known rna NULL NULL 0.763 - - - no_errors ZNF451 HGNC ENSG00000112200 136 0 0.00 67 16 19.28 - - - ZNF615 0 genome.wustl.edu 37 19 52497053 52497053 + Nonsense_Mutation SNP T T A TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 19 52497053 52497053 T A SNP ZNF615 ENST00000391795 human ensembl 69_37n -1 known nonsense c.1291 p.K431* 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 ZNF615 HGNC ENSG00000197619 285 0 0.00 336 55 14.07 - - - ZNF79 0 genome.wustl.edu 37 9 130207444 130207444 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A12Q-09 TCGA-A7-A13D-10A-02D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 418e916b-7a4e-4fab-8616-15dcec4d79f8 dbc462f5-f723-4cf7-a48d-84001d2d51e9 9 130207444 130207444 G C SNP ZNF79 ENST00000342483 human ensembl 69_37n +1 known missense c.1465 p.V489L 0.000 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 57 0 0.00 27 36 57.14 - - - ZNF79 0 genome.wustl.edu 37 9 130207444 130207444 + Missense_Mutation SNP G G C TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3e0f9b90-88f4-41f1-91b2-2f4bcdfaaebb 2fc0129f-0a1c-4f01-85a1-d447fc9d348b 9 130207444 130207444 G C SNP ZNF79 ENST00000342483 human ensembl 69_37n +1 known missense c.1465 p.V489L 0.000 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 62 0 0.00 20 18 47.37 - - -