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 ABI2 0 genome.wustl.edu 37 2 204291989 204291989 + Missense_Mutation SNP G G A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 2 204291989 204291989 G A SNP ABI2 ENST00000295851 human ensembl 69_37n +1 known missense c.1456 p.D486N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI2 HGNC ENSG00000138443 72 0 0.00 8 74 90.24 - - - AP1B1 0 genome.wustl.edu 37 22 29727809 29727809 + Silent SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 22 29727809 29727809 C T SNP AP1B1 ENST00000357586 human ensembl 69_37n -1 known silent c.2406 p.S802 0.162 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP1B1 HGNC ENSG00000100280 49 0 0.00 19 11 36.67 - - - ARHGAP33 0 genome.wustl.edu 37 19 36269498 36269498 + Missense_Mutation SNP G G T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 19 36269498 36269498 G T SNP ARHGAP33 ENST00000007510 human ensembl 69_37n +1 known missense c.403 p.A135S 1.000 superfamily_Phox pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 25 0 0.00 18 4 18.18 - - - C3orf20 0 genome.wustl.edu 37 3 14769950 14769950 + Silent SNP G G T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 3 14769950 14769950 G T SNP C3orf20 ENST00000253697 human ensembl 69_37n +1 known silent c.1695 p.L565 0.889 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 37 0 0.00 28 4 12.50 - - - CCDC13 0 genome.wustl.edu 37 3 42754739 42754739 + Silent SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 3 42754739 42754739 C T SNP CCDC13 ENST00000310232 human ensembl 69_37n -1 known silent c.1788 p.V596 0.856 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 30 0 0.00 14 8 36.36 - - - CNGB1 0 genome.wustl.edu 37 16 57921789 57921789 + Silent SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 16 57921789 57921789 C T SNP CNGB1 ENST00000251102 human ensembl 69_37n -1 known silent c.3432 p.A1144 0.035 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 52 0 0.00 15 23 58.97 - - - CUL4A 0 genome.wustl.edu 37 13 113898800 113898800 + Missense_Mutation SNP G G C TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 13 113898800 113898800 G C SNP CUL4A ENST00000375440 human ensembl 69_37n +1 known missense c.1305 p.K435N 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 54 0 0.00 23 19 45.24 - - - CYP2A13 0 genome.wustl.edu 37 19 41596463 41596463 + Silent SNP G G A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 19 41596463 41596463 G A SNP CYP2A13 ENST00000330436 human ensembl 69_37n +1 known silent c.648 p.T216 0.037 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 36 0 0.00 18 6 25.00 - - - DLC1 0 genome.wustl.edu 37 8 13356703 13356703 + Missense_Mutation SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 8 13356703 13356703 C T SNP DLC1 ENST00000276297 human ensembl 69_37n -1 known missense c.878 p.G293D 0.977 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 117 0 0.00 15 75 83.33 - - - DOCK3 0 genome.wustl.edu 37 3 51263178 51263178 + Missense_Mutation SNP C C A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 3 51263178 51263178 C A SNP DOCK3 ENST00000266037 human ensembl 69_37n +1 known missense c.1351 p.L451I 1.000 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 82 0 0.00 58 22 27.50 - - - FLG 0 genome.wustl.edu 37 1 152278000 152278000 + Missense_Mutation SNP C C A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 1 152278000 152278000 C A SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.9362 p.R3121M 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 94 0 0.00 91 15 14.15 - - - HRNR 0 genome.wustl.edu 37 1 152192762 152192762 + Missense_Mutation SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 1 152192762 152192762 C T SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.1343 p.R448Q 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 75 0 0.00 67 17 20.24 - - - HRNR 0 genome.wustl.edu 37 1 152193765 152193765 + Missense_Mutation SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 1 152193765 152193765 C T SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.340 p.E114K 0.642 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 124 0 0.00 146 35 19.34 - - - KCNJ4 0 genome.wustl.edu 37 22 38823442 38823442 + Silent SNP G G A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 22 38823442 38823442 G A SNP KCNJ4 ENST00000303592 human ensembl 69_37n -1 known silent c.696 p.G232 0.130 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 20 0 0.00 13 7 33.33 - - - KIAA0319 0 genome.wustl.edu 37 6 24581158 24581158 + Missense_Mutation SNP C C A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 6 24581158 24581158 C A SNP KIAA0319 ENST00000378214 human ensembl 69_37n -1 known missense c.1275 p.K425N 0.999 pfam_PKD/REJ-like,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 68 0 0.00 39 11 22.00 - - - KLK14 0 genome.wustl.edu 37 19 51584934 51584934 + Missense_Mutation SNP T T C TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 19 51584934 51584934 T C SNP KLK14 ENST00000156499 human ensembl 69_37n -1 known missense c.115 p.N39D 0.323 superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK14 HGNC ENSG00000129437 28 0 0.00 15 7 31.82 - - - MACF1 0 genome.wustl.edu 37 1 39908479 39908479 + Missense_Mutation SNP G G A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 1 39908479 39908479 G A SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.13021 p.A4341T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 32 0 0.00 15 9 37.50 - - - MED25 0 genome.wustl.edu 37 19 50333407 50333407 + Missense_Mutation SNP G G A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 19 50333407 50333407 G A SNP MED25 ENST00000312865 human ensembl 69_37n +1 known missense c.751 p.A251T 0.000 pfam_Mediator_Med25_SD1 pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 17 0 0.00 3 5 62.50 - - - MTM1 0 genome.wustl.edu 37 X 149783132 149783132 + Missense_Mutation SNP G G T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 X 149783132 149783132 G T SNP MTM1 ENST00000370396 human ensembl 69_37n +1 known missense c.302 p.S101I 1.000 NULL pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTM1 HGNC ENSG00000171100 72 0 0.00 33 4 10.81 - - - MUC16 0 genome.wustl.edu 37 19 9058138 9058138 + Missense_Mutation SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 19 9058138 9058138 C T SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.29308 p.E9770K 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 70 0 0.00 34 10 22.73 - - - MVP 0 genome.wustl.edu 37 16 29851675 29851675 + Silent SNP C C A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 16 29851675 29851675 C A SNP MVP ENST00000357402 human ensembl 69_37n +1 known silent c.1086 p.P362 1.000 pfam_Vault_N pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 23 0 0.00 11 4 26.67 - - - MYADML 0 genome.wustl.edu 37 2 33952673 33952673 + RNA SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 2 33952673 33952673 C T SNP MYADML ENST00000474610 human ensembl 69_37n -1 known rna NULL NULL 0.964 - - - no_errors MYADML HGNC ENSG00000239649 12 0 0.00 17 6 26.09 - - - MYLK 0 genome.wustl.edu 37 3 123451949 123451949 + Missense_Mutation SNP A A C TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 3 123451949 123451949 A C SNP MYLK ENST00000360304 human ensembl 69_37n -1 known missense c.1310 p.V437G 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors MYLK HGNC ENSG00000065534 22 0 0.00 14 5 26.32 - - - NLRP3 0 genome.wustl.edu 37 1 247587581 247587581 + Missense_Mutation SNP G G T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 1 247587581 247587581 G T SNP NLRP3 ENST00000336119 human ensembl 69_37n +1 known missense c.836 p.C279F 1.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 23 0 0.00 17 7 29.17 - - - NRAP 0 genome.wustl.edu 37 10 115351979 115351979 + Frame_Shift_Del DEL G G - TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 10 115351979 115351979 G - DEL NRAP ENST00000369358 human ensembl 69_37n -1 known frame_shift_del c.4642 p.R1548fs 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 59 0 0.00 13 2 13.33 - - - OR6K3 0 genome.wustl.edu 37 1 158687927 158687927 + Frame_Shift_Del DEL A A - TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 1 158687927 158687927 A - DEL OR6K3 ENST00000368146 human ensembl 69_37n -1 known frame_shift_del c.27 p.F9fs 0.531 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 11 0 0.00 13 12 48.00 - - - OSBPL8 0 genome.wustl.edu 37 12 76791544 76791544 + Missense_Mutation SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 12 76791544 76791544 C T SNP OSBPL8 ENST00000261183 human ensembl 69_37n -1 known missense c.602 p.R201H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 74 0 0.00 66 24 26.37 - - - PLA2G4D 0 genome.wustl.edu 37 15 42374520 42374520 + Frame_Shift_Del DEL A A - TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 15 42374520 42374520 A - DEL PLA2G4D ENST00000290472 human ensembl 69_37n -1 known frame_shift_del c.740 p.L247fs 0.183 NULL pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 58 0 0.00 16 2 11.11 - - - PPRC1 0 genome.wustl.edu 37 10 103897671 103897671 + Missense_Mutation SNP T T A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 10 103897671 103897671 T A SNP PPRC1 ENST00000278070 human ensembl 69_37n +1 known missense c.218 p.L73Q 0.509 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 58 0 0.00 17 14 45.16 - - - PRELP 0 genome.wustl.edu 37 1 203452389 203452389 + Missense_Mutation SNP C C A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 1 203452389 203452389 C A SNP PRELP ENST00000343110 human ensembl 69_37n +1 known missense c.77 p.P26Q 0.143 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 24 0 0.00 24 7 22.58 - - - RAD1 0 genome.wustl.edu 37 5 34909405 34909405 + Missense_Mutation SNP T T C TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 5 34909405 34909405 T C SNP RAD1 ENST00000341754 human ensembl 69_37n -1 known missense c.623 p.D208G 1.000 pfam_Rad1_Rec1_Rad17,prints_Rad1_repair pfam_Rad1_Rec1_Rad17,prints_Rad1_Rec1_Rad17,prints_Rad1_repair - no_errors RAD1 HGNC ENSG00000113456 47 0 0.00 22 9 29.03 - - - RUFY2 0 genome.wustl.edu 37 10 70156614 70156614 + Missense_Mutation SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 10 70156614 70156614 C T SNP RUFY2 ENST00000466493 human ensembl 69_37n -1 known missense c.362 p.R121H 0.142 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RUFY2 HGNC ENSG00000204130 57 0 0.00 20 8 28.57 - - - SARDH 0 genome.wustl.edu 37 9 136568111 136568111 + Missense_Mutation SNP G G A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 9 136568111 136568111 G A SNP SARDH ENST00000371872 human ensembl 69_37n -1 known missense c.1595 p.A532V 0.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 9 0 0.00 10 4 28.57 - - - SLC13A3 0 genome.wustl.edu 37 20 45228668 45228668 + Missense_Mutation SNP G G C TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 20 45228668 45228668 G C SNP SLC13A3 ENST00000279027 human ensembl 69_37n -1 known missense c.550 p.R184G 0.142 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 46 0 0.00 68 22 24.44 - - - SLC19A3 0 genome.wustl.edu 37 2 228564073 228564073 + Missense_Mutation SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 2 228564073 228564073 C T SNP SLC19A3 ENST00000258403 human ensembl 69_37n -1 known missense c.358 p.E120K 1.000 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 15 0 0.00 0 15 100.00 - - - SPTBN2 0 genome.wustl.edu 37 11 66457401 66457401 + Missense_Mutation SNP C C T TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 11 66457401 66457401 C T SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known missense c.5824 p.A1942T 0.999 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 65 0 0.00 6 30 83.33 - - - TNRC18 0 genome.wustl.edu 37 7 5352597 5352599 + In_Frame_Del DEL GAG GAG - TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 7 5352597 5352599 GAG - DEL TNRC18 ENST00000399537 human ensembl 69_37n -1 known in_frame_del c.7925_7923 p.S2645in_frame_del 0.984:0.989:0.972 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 10 0 0.00 4 2 33.33 - - - TRAM1L1 0 genome.wustl.edu 37 4 118005644 118005644 + Silent SNP C C A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 4 118005644 118005644 C A SNP TRAM1L1 ENST00000310754 human ensembl 69_37n -1 known silent c.906 p.S302 0.037 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 51 0 0.00 61 16 20.78 - - - ZDBF2 0 genome.wustl.edu 37 2 207175936 207175936 + Silent SNP G G A TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 2 207175936 207175936 G A SNP ZDBF2 ENST00000374423 human ensembl 69_37n +1 known silent c.6684 p.S2228 0.152 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 55 0 0.00 4 24 85.71 - - - ZFHX4 0 genome.wustl.edu 37 8 77764795 77764795 + Missense_Mutation SNP A A G TCGA-D8-A1XF-01A-11D-A14G-09 TCGA-D8-A1XF-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e1587f32-2ff9-40f3-97dd-b45b0f14be46 6218f631-47be-4e92-a6fb-d0cd09bddca7 8 77764795 77764795 A G SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.5638 p.K1880E 0.999 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 35 0 0.00 32 29 47.54 - - -