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 ACAD11 0 genome.wustl.edu 37 3 132378481 132378481 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 3 132378481 132378481 C T SNP ACAD11 ENST00000264990 human ensembl 69_37n -1 known missense c.115 p.E39K 0.000 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 59 0 0.00 36 20 35.71 - - - ACADS 0 genome.wustl.edu 37 12 121177129 121177129 + Missense_Mutation SNP G G T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 12 121177129 121177129 G T SNP ACADS ENST00000242592 human ensembl 69_37n +1 known missense c.1117 p.V373L 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ENSG00000122971 48 0 0.00 19 5 20.83 - - - ACO1 0 genome.wustl.edu 37 9 32427427 32427427 + Nonsense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 9 32427427 32427427 C T SNP ACO1 ENST00000309951 human ensembl 69_37n +1 known nonsense c.1477 p.Q493* 0.991 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 183 0 0.00 113 59 34.30 - - - ACSL5 0 genome.wustl.edu 37 10 114172996 114172996 + Silent SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 10 114172996 114172996 C T SNP ACSL5 ENST00000356116 human ensembl 69_37n +1 known silent c.1182 p.D394 0.978 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 107 0 0.00 85 15 15.00 - - - AHNAK 0 genome.wustl.edu 37 11 62288755 62288755 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 11 62288755 62288755 C T SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.13134 p.M4378I 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 106 0 0.00 64 39 37.86 - - - ATAD2B 0 genome.wustl.edu 37 2 24092590 24092590 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 2 24092590 24092590 G A SNP ATAD2B ENST00000238789 human ensembl 69_37n -1 known missense c.1019 p.S340F 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 87 0 0.00 56 28 33.33 - - - BAG1 0 genome.wustl.edu 37 9 33261117 33261117 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 9 33261117 33261117 C T SNP BAG1 ENST00000472232 human ensembl 69_37n -1 known missense c.631 p.D211N 0.998 pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_BAG_domain,pfam_Ubiquitin,smart_Ubiquitin,smart_BAG_domain,pfscan_BAG_domain,pfscan_Ubiquitin_supergroup - no_errors BAG1 HGNC ENSG00000107262 31 0 0.00 25 4 13.79 - - - C2orf69 0 genome.wustl.edu 37 2 200790463 200790463 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 2 200790463 200790463 G A SNP C2orf69 ENST00000319974 human ensembl 69_37n +1 known missense c.1012 p.D338N 1.000 pfam_UPF0565 pfam_UPF0565 - no_errors C2orf69 HGNC ENSG00000178074 43 0 0.00 39 8 17.02 - - - C2orf69 0 genome.wustl.edu 37 2 200790577 200790577 + Missense_Mutation SNP G G C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 2 200790577 200790577 G C SNP C2orf69 ENST00000319974 human ensembl 69_37n +1 known missense c.1126 p.E376Q 1.000 NULL pfam_UPF0565 - no_errors C2orf69 HGNC ENSG00000178074 45 0 0.00 39 8 17.02 - - - CAPN1 0 genome.wustl.edu 37 11 64974024 64974024 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 11 64974024 64974024 G A SNP CAPN1 ENST00000279247 human ensembl 69_37n +1 known missense c.1444 p.E482K 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 86 0 0.00 94 28 22.95 - - - CCDC129 0 genome.wustl.edu 37 7 31594131 31594131 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 7 31594131 31594131 G A SNP CCDC129 ENST00000451887 human ensembl 69_37n +1 known missense c.284 p.G95E 1.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 33 0 0.00 16 6 27.27 - - - CDH4 0 genome.wustl.edu 37 20 60485538 60485538 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 20 60485538 60485538 G A SNP CDH4 ENST00000360469 human ensembl 69_37n +1 known missense c.1249 p.D417N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH4 HGNC ENSG00000179242 29 0 0.00 40 13 24.53 - - - CYP4F30P 0 genome.wustl.edu 37 2 131438382 131438382 + RNA SNP G G C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 2 131438382 131438382 G C SNP CYP4F30P ENST00000397485 human ensembl 69_37n +1 known rna NULL NULL 0.014 - - - no_errors CYP4F30P HGNC ENSG00000214081 37 0 0.00 30 4 11.76 - - - DBX2 0 genome.wustl.edu 37 12 45429829 45429829 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 12 45429829 45429829 G A SNP DBX2 ENST00000332700 human ensembl 69_37n -1 known missense c.472 p.R158C 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DBX2 HGNC ENSG00000185610 41 0 0.00 32 21 39.62 - - - DISP1 0 genome.wustl.edu 37 1 223176237 223176237 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 1 223176237 223176237 C T SNP DISP1 ENST00000284476 human ensembl 69_37n +1 known missense c.1498 p.L500F 1.000 pfam_Patched pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 84 0 0.00 81 28 25.45 - - - DNAJB13 0 genome.wustl.edu 37 11 73675980 73675980 + Missense_Mutation SNP G G C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 11 73675980 73675980 G C SNP DNAJB13 ENST00000339764 human ensembl 69_37n +1 known missense c.392 p.R131P 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJB13 HGNC ENSG00000187726 48 0 0.00 18 16 47.06 - - - DNM3OS 0 genome.wustl.edu 37 1 172113818 172113818 + RNA SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 1 172113818 172113818 G A SNP DNM3OS ENST00000417354 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors DNM3OS HGNC ENSG00000230630 46 0 0.00 44 16 26.67 - - - DPYSL3 0 genome.wustl.edu 37 5 146778797 146778797 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 5 146778797 146778797 C T SNP DPYSL3 ENST00000398514 human ensembl 69_37n -1 known missense c.1129 p.E377K 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 76 0 0.00 34 5 12.82 - - - DSN1 0 genome.wustl.edu 37 20 35386557 35386557 + Missense_Mutation SNP A A C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 20 35386557 35386557 A C SNP DSN1 ENST00000373745 human ensembl 69_37n -1 known missense c.658 p.L220V 0.998 pfam_Mtw1_DSN1 pfam_Mtw1_DSN1 - no_errors DSN1 HGNC ENSG00000149636 22 0 0.00 12 7 36.84 - - - F8 0 genome.wustl.edu 37 X 154157956 154157956 + Missense_Mutation SNP G G T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe X 154157956 154157956 G T SNP F8 ENST00000360256 human ensembl 69_37n -1 known missense c.4109 p.T1370N 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 87 0 0.00 63 41 39.42 - - - FAM175B 0 genome.wustl.edu 37 10 126519945 126519945 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 10 126519945 126519945 G A SNP FAM175B ENST00000298492 human ensembl 69_37n +1 known missense c.691 p.E231K 1.000 NULL prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175 - no_errors FAM175B HGNC ENSG00000165660 65 0 0.00 51 9 15.00 - - - FGFR1OP2 0 genome.wustl.edu 37 12 27107176 27107176 + Silent SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 12 27107176 27107176 C T SNP FGFR1OP2 ENST00000229395 human ensembl 69_37n +1 known silent c.85 p.L29 1.000 pfam_SIKE pfam_SIKE,superfamily_DNA-bd_dom_put - no_errors FGFR1OP2 HGNC ENSG00000111790 64 0 0.00 43 19 30.65 - - - GNL2 0 genome.wustl.edu 37 1 38061424 38061424 + RNA SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 1 38061424 38061424 C T SNP GNL2 ENST00000488496 human ensembl 69_37n -1 known rna NULL NULL 0.999 - - - no_errors GNL2 HGNC ENSG00000134697 84 0 0.00 48 21 30.43 - - - IGF2R 0 genome.wustl.edu 37 6 160477534 160477534 + Nonsense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 6 160477534 160477534 C T SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known nonsense c.2773 p.Q925* 0.000 pfam_CIMR pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 38 0 0.00 47 7 12.96 - - - IL32 0 genome.wustl.edu 37 16 3131810 3131810 + Silent SNP T T C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 16 3131810 3131810 T C SNP IL32 ENST00000525377 human ensembl 69_37n +1 putative silent c.516 p.V172 0.000 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region IL32 HGNC ENSG00000008517 18 0 0.00 29 9 23.68 - - - IMPG1 0 genome.wustl.edu 37 6 76640797 76640797 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 6 76640797 76640797 C T SNP IMPG1 ENST00000369950 human ensembl 69_37n -1 known missense c.2116 p.E706K 0.420 pfscan_EG-like_dom pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG1 HGNC ENSG00000112706 52 0 0.00 41 12 22.64 - - - KIAA1009 0 genome.wustl.edu 37 6 84884479 84884479 + Missense_Mutation SNP T T G TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 6 84884479 84884479 T G SNP KIAA1009 ENST00000403245 human ensembl 69_37n -1 known missense c.1992 p.K664N 0.002 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 70 0 0.00 38 8 17.39 - - - KIF1A 0 genome.wustl.edu 37 2 241696840 241696841 + In_Frame_Ins INS - - TCC TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 2 241696840 241696841 - TCC INS KIF1A ENST00000498729 human ensembl 69_37n -1 known in_frame_ins c.2754_2753 p.918in_frame_insE 1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 23 0 0.00 14 6 30.00 - - - LCP1 0 genome.wustl.edu 37 13 46705069 46705069 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 13 46705069 46705069 G A SNP LCP1 ENST00000323076 human ensembl 69_37n -1 known missense c.1631 p.P544L 0.001 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF-hand,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors LCP1 HGNC ENSG00000136167 38 0 0.00 14 4 22.22 - - - LILRA4 0 genome.wustl.edu 37 19 54848842 54848842 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 19 54848842 54848842 C T SNP LILRA4 ENST00000291759 human ensembl 69_37n -1 known missense c.781 p.D261N 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA4 HGNC ENSG00000239961 62 0 0.00 79 20 20.20 - - - LTK 0 genome.wustl.edu 37 15 41804458 41804458 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 15 41804458 41804458 G A SNP LTK ENST00000263800 human ensembl 69_37n -1 known missense c.365 p.S122L 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC ENSG00000062524 19 0 0.00 20 12 37.50 - - - MAP9 0 genome.wustl.edu 37 4 156289820 156289820 + Missense_Mutation SNP G G C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 4 156289820 156289820 G C SNP MAP9 ENST00000311277 human ensembl 69_37n -1 known missense c.626 p.S209C 0.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 175 0 0.00 122 17 12.23 - - - MED23 0 genome.wustl.edu 37 6 131925356 131925356 + Missense_Mutation SNP T T C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 6 131925356 131925356 T C SNP MED23 ENST00000368058 human ensembl 69_37n -1 known missense c.1736 p.Y579C 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 29 0 0.00 8 14 63.64 - - - MEPE 0 genome.wustl.edu 37 4 88767897 88767897 + RNA SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 4 88767897 88767897 G A SNP MEPE ENST00000508016 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MEPE HGNC ENSG00000152595 49 0 0.00 33 7 17.50 - - - MIR2113 0 genome.wustl.edu 37 6 98472424 98472424 + RNA SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 6 98472424 98472424 G A SNP MIR2113 ENST00000459007 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR2113 HGNC ENSG00000238367 32 0 0.00 22 23 51.11 - - - MSX1 0 genome.wustl.edu 37 4 4864568 4864568 + Nonsense_Mutation SNP G G T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 4 4864568 4864568 G T SNP MSX1 ENST00000382723 human ensembl 69_37n +1 known nonsense c.610 p.E204* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 48 0 0.00 32 51 61.45 - - - MTG1 0 genome.wustl.edu 37 10 135233088 135233088 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 10 135233088 135233088 C T SNP MTG1 ENST00000317502 human ensembl 69_37n +1 known missense c.857 p.T286M 0.892 pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF pfam_GTP_binding_domain,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF - no_errors MTG1 Clone_based_vega_gene ENSG00000148824 30 0 0.00 41 11 21.15 - - - MUC12 0 genome.wustl.edu 37 7 100647819 100647819 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 7 100647819 100647819 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.14404 p.H4802Y 0.002 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 75 0 0.00 70 8 10.26 - - - MYCT1 0 genome.wustl.edu 37 6 153043257 153043257 + Missense_Mutation SNP T T A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 6 153043257 153043257 T A SNP MYCT1 ENST00000367245 human ensembl 69_37n +1 known missense c.577 p.S193T 0.945 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 55 0 0.00 30 14 31.82 - - - MYCT1 0 genome.wustl.edu 37 6 153043356 153043356 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 6 153043356 153043356 G A SNP MYCT1 ENST00000367245 human ensembl 69_37n +1 known missense c.676 p.E226K 1.000 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 39 0 0.00 21 16 43.24 - - - OR2G2 0 genome.wustl.edu 37 1 247752099 247752099 + Silent SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 1 247752099 247752099 C T SNP OR2G2 ENST00000320065 human ensembl 69_37n +1 known silent c.438 p.A146 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 34 0 0.00 39 6 13.33 - - - OTOF 0 genome.wustl.edu 37 2 26781363 26781363 + Missense_Mutation SNP C C A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 2 26781363 26781363 C A SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.77 p.R26L 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 75 0 0.00 62 57 47.90 - - - PCDHA2 0 genome.wustl.edu 37 5 140176058 140176058 + Silent SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 5 140176058 140176058 G A SNP PCDHA2 ENST00000526136 human ensembl 69_37n +1 known silent c.1509 p.A503 0.047 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 113 0 0.00 104 49 32.03 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 61 0 0.00 27 28 50.91 - - - PLCB1 0 genome.wustl.edu 37 20 8665692 8665692 + Missense_Mutation SNP T T C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 20 8665692 8665692 T C SNP PLCB1 ENST00000338037 human ensembl 69_37n +1 known missense c.976 p.F326L 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 52 0 0.00 30 7 18.92 - - - PRKCB 0 genome.wustl.edu 37 16 24226123 24226123 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 16 24226123 24226123 G A SNP PRKCB ENST00000303531 human ensembl 69_37n +1 known missense c.2008 p.E670K 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors PRKCB HGNC ENSG00000166501 27 0 0.00 16 7 30.43 - - - SDC1 0 genome.wustl.edu 37 2 20403762 20403762 + Nonsense_Mutation SNP C C A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 2 20403762 20403762 C A SNP SDC1 ENST00000254351 human ensembl 69_37n -1 known nonsense c.439 p.E147* 0.936 pfam_Syndecan pfam_Syndecan,smart_Neurexin-like - no_errors SDC1 HGNC ENSG00000115884 42 0 0.00 57 60 51.28 - - - SLC5A12 0 genome.wustl.edu 37 11 26720016 26720016 + Missense_Mutation SNP G G C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 11 26720016 26720016 G C SNP SLC5A12 ENST00000396005 human ensembl 69_37n -1 known missense c.888 p.I296M 0.969 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 42 0 0.00 27 8 22.86 - - - SLC6A11 0 genome.wustl.edu 37 3 10960032 10960032 + Silent SNP T T C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 3 10960032 10960032 T C SNP SLC6A11 ENST00000254488 human ensembl 69_37n +1 known silent c.1014 p.C338 0.876 pfam_Na/ntran_symport,prints_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3,pfscan_Na/ntran_symport - no_errors SLC6A11 HGNC ENSG00000132164 88 0 0.00 137 26 15.95 - - - SLITRK4 0 genome.wustl.edu 37 X 142717799 142717799 + Missense_Mutation SNP G G T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe X 142717799 142717799 G T SNP SLITRK4 ENST00000338017 human ensembl 69_37n -1 known missense c.1126 p.P376T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 61 0 0.00 49 28 36.36 - - - SMAD1 0 genome.wustl.edu 37 4 146467880 146467880 + Silent SNP A A G TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 4 146467880 146467880 A G SNP SMAD1 ENST00000302085 human ensembl 69_37n +1 known silent c.801 p.E267 0.998 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 55 0 0.00 29 9 23.68 - - - SUDS3 0 genome.wustl.edu 37 12 118839610 118839610 + Silent SNP G G C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 12 118839610 118839610 G C SNP SUDS3 ENST00000397564 human ensembl 69_37n +1 known silent c.663 p.L221 1.000 pfam_Sds3 pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 61 0 0.00 49 8 14.04 - - - SULT1B1 0 genome.wustl.edu 37 4 70620409 70620409 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 4 70620409 70620409 G A SNP SULT1B1 ENST00000310613 human ensembl 69_37n -1 known missense c.256 p.L86F 0.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1B1 HGNC ENSG00000173597 39 0 0.00 20 14 41.18 - - - SV2B 0 genome.wustl.edu 37 15 91769555 91769555 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 15 91769555 91769555 G A SNP SV2B ENST00000330276 human ensembl 69_37n +1 known missense c.62 p.R21H 0.938 tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2B HGNC ENSG00000185518 37 0 0.00 33 23 41.07 - - - TBC1D2B 0 genome.wustl.edu 37 15 78316777 78316777 + Frame_Shift_Del DEL A A - TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 15 78316777 78316777 A - DEL TBC1D2B ENST00000300584 human ensembl 69_37n -1 known frame_shift_del c.1191 p.L398fs 0.007 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 58 0 0.00 51 8 13.56 - - - TCP1 0 genome.wustl.edu 37 6 160210569 160210569 + RNA SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 6 160210569 160210569 G A SNP TCP1 ENST00000543532 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TCP1 HGNC ENSG00000120438 51 0 0.00 16 21 56.76 - - - TEX13A 0 genome.wustl.edu 37 X 104464756 104464756 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe X 104464756 104464756 G A SNP TEX13A ENST00000413579 human ensembl 69_37n -1 known missense c.326 p.S109L 0.002 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 58 0 0.00 37 11 22.92 - - - TFR2 0 genome.wustl.edu 37 7 100230904 100230904 + Frame_Shift_Del DEL G G - TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 7 100230904 100230904 G - DEL TFR2 ENST00000223051 human ensembl 69_37n -1 known frame_shift_del c.674 p.P225fs 0.003 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 17 0 0.00 3 2 40.00 - - - TP53 0 genome.wustl.edu 37 17 7577077 7577077 + Silent SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 17 7577077 7577077 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known silent c.861 p.E287 0.910 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 58 0 0.00 19 23 54.76 - - - TP53 0 genome.wustl.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 17 7577085 7577085 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.853 p.E285K 0.995 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 54 0 0.00 18 23 56.10 - - - TRPC6 0 genome.wustl.edu 37 11 101342870 101342870 + Missense_Mutation SNP C C G TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 11 101342870 101342870 C G SNP TRPC6 ENST00000344327 human ensembl 69_37n -1 known missense c.2203 p.E735Q 1.000 prints_TRPC_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 22 0 0.00 13 10 43.48 - - - TRPM3 0 genome.wustl.edu 37 9 73151240 73151240 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 9 73151240 73151240 C T SNP TRPM3 ENST00000423814 human ensembl 69_37n -1 known missense c.4834 p.E1612K 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 86 0 0.00 78 14 15.22 - - - TTC21A 0 genome.wustl.edu 37 3 39180104 39180104 + Missense_Mutation SNP T T C TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 3 39180104 39180104 T C SNP TTC21A ENST00000301819 human ensembl 69_37n +1 known missense c.3878 p.I1293T 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 55 0 0.00 40 12 23.08 - - - TTN 0 genome.wustl.edu 37 2 179499204 179499204 + Missense_Mutation SNP C C T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 2 179499204 179499204 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.34600 p.A11534T 0.925 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 33 0 0.00 20 6 23.08 - - - USH2A 0 genome.wustl.edu 37 1 215799148 215799148 + Missense_Mutation SNP G G T TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 1 215799148 215799148 G T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.15656 p.T5219N 1.000 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 62 0 0.00 54 16 22.86 - - - WNK1 0 genome.wustl.edu 37 12 970325 970325 + Silent SNP C C G TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 12 970325 970325 C G SNP WNK1 ENST00000530271 human ensembl 69_37n +1 known silent c.1767 p.L589 0.681 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 43 0 0.00 18 8 30.77 - - - ZBTB8OS 0 genome.wustl.edu 37 1 33099302 33099302 + Missense_Mutation SNP G G A TCGA-BH-A5J0-01A-11D-A27P-09 TCGA-BH-A5J0-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b2273518-7fe0-4c1e-85f6-5c5ef7bbdcab 213426e8-ddbf-4920-813e-74f7f68823fe 1 33099302 33099302 G A SNP ZBTB8OS ENST00000468695 human ensembl 69_37n -1 known missense c.307 p.H103Y 1.000 pfam_Archease_dom,superfamily_Archease_dom pfam_Archease_dom,superfamily_Archease_dom - no_errors ZBTB8OS HGNC ENSG00000176261 54 0 0.00 30 4 11.76 - - -