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 ABCC5 0 genome.wustl.edu 37 3 183665225 183665225 + Missense_Mutation SNP G G A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 3 183665225 183665225 G A SNP ABCC5 ENST00000334444 human ensembl 69_37n -1 known missense c.3301 p.R1101W 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 26 0 0.00 47 26 35.62 - - - ADCY5 0 genome.wustl.edu 37 3 123166299 123166302 + Frame_Shift_Del DEL GCGA GCGA - TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 GCGA GCGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 3 123166299 123166302 GCGA - DEL ADCY5 ENST00000462833 human ensembl 69_37n -1 known frame_shift_del c.1094_1091 p.I364fs 1.000:1.000:0.999:1.000 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 17 0 0.00 17 7 28.00 - - - ADPRH 0 genome.wustl.edu 37 3 119301156 119301156 + Missense_Mutation SNP A A T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 3 119301156 119301156 A T SNP ADPRH ENST00000357003 human ensembl 69_37n +1 known missense c.140 p.D47V 0.079 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRH HGNC ENSG00000144843 38 0 0.00 70 31 30.69 - - - ANK1 0 genome.wustl.edu 37 8 41575713 41575713 + Missense_Mutation SNP T T C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 8 41575713 41575713 T C SNP ANK1 ENST00000396942 human ensembl 69_37n -1 known missense c.1117 p.T373A 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 31 0 0.00 39 23 35.94 - - - ANKH 0 genome.wustl.edu 37 5 14871377 14871377 + Silent SNP C C T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 5 14871377 14871377 C T SNP ANKH ENST00000505140 human ensembl 69_37n -1 known silent c.180 p.L60 0.988 NULL pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 10 0 0.00 12 8 38.10 - - - APOBEC2 0 genome.wustl.edu 37 6 41029494 41029494 + Missense_Mutation SNP G G A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 6 41029494 41029494 G A SNP APOBEC2 ENST00000244669 human ensembl 69_37n +1 known missense c.559 p.V187I 0.278 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC2 HGNC ENSG00000124701 12 0 0.00 41 20 32.79 - - - APPBP2 0 genome.wustl.edu 37 17 58525152 58525152 + Missense_Mutation SNP A A T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 17 58525152 58525152 A T SNP APPBP2 ENST00000083182 human ensembl 69_37n -1 known missense c.1548 p.D516E 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors APPBP2 HGNC ENSG00000062725 26 0 0.00 17 17 50.00 - - - BAG6 0 genome.wustl.edu 37 6 31611965 31611965 + Missense_Mutation SNP T T C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 6 31611965 31611965 T C SNP BAG6 ENST00000404765 human ensembl 69_37n -1 known missense c.1562 p.Q521R 1.000 NULL pfam_DUF3538,pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 24 0 0.00 57 22 27.85 - - - C6orf89 0 genome.wustl.edu 37 6 36884276 36884276 + Missense_Mutation SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 6 36884276 36884276 C G SNP C6orf89 ENST00000355190 human ensembl 69_37n +1 known missense c.772 p.H258D 0.007 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 61 0 0.00 99 49 33.11 - - - CARD9 0 genome.wustl.edu 37 9 139265150 139265150 + Missense_Mutation SNP C C T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 9 139265150 139265150 C T SNP CARD9 ENST00000371732 human ensembl 69_37n -1 known missense c.631 p.D211N 0.992 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 18 0 0.00 7 10 58.82 - - - CD44 0 genome.wustl.edu 37 11 35226171 35226171 + Missense_Mutation SNP G G C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 11 35226171 35226171 G C SNP CD44 ENST00000526553 human ensembl 69_37n +1 novel missense c.226 p.D76H 0.037 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CD44 HGNC ENSG00000026508 49 0 0.00 47 25 34.72 - - - CDKL4 0 genome.wustl.edu 37 2 39456599 39456599 + Silent SNP G G A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 2 39456599 39456599 G A SNP CDKL4 ENST00000378803 human ensembl 69_37n -1 known silent c.75 p.T25 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL4 HGNC ENSG00000205111 85 0 0.00 58 33 35.87 - - - CSMD2 0 genome.wustl.edu 37 1 33988932 33988932 + Missense_Mutation SNP T T C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 1 33988932 33988932 T C SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.10484 p.D3495G 0.982 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 87 0 0.00 82 52 38.81 - - - CSMD3 0 genome.wustl.edu 37 8 114326893 114326893 + Missense_Mutation SNP A A G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 8 114326893 114326893 A G SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known missense c.308 p.I103T 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 72 0 0.00 109 35 24.31 - - - EGFR 0 genome.wustl.edu 37 7 55268034 55268034 + Silent SNP C C A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 7 55268034 55268034 C A SNP EGFR ENST00000275493 human ensembl 69_37n +1 known silent c.2874 p.R958 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 73 0 0.00 135 47 25.82 - - - EPB41L5 0 genome.wustl.edu 37 2 120799675 120799675 + Missense_Mutation SNP G G C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 2 120799675 120799675 G C SNP EPB41L5 ENST00000263713 human ensembl 69_37n +1 known missense c.274 p.A92P 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L5 HGNC ENSG00000115109 64 0 0.00 91 22 19.47 - - - FLG2 0 genome.wustl.edu 37 1 152327278 152327278 + Missense_Mutation SNP C C T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 1 152327278 152327278 C T SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.2984 p.S995N 0.780 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 146 0 0.00 136 33 19.53 - - - GDAP1 0 genome.wustl.edu 37 8 75276444 75276444 + Missense_Mutation SNP A A G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 8 75276444 75276444 A G SNP GDAP1 ENST00000220822 human ensembl 69_37n +1 known missense c.919 p.T307A 1.000 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1 HGNC ENSG00000104381 44 0 0.00 61 41 40.20 - - - HMCN1 0 genome.wustl.edu 37 1 185951458 185951458 + Missense_Mutation SNP G G T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 1 185951458 185951458 G T SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.2727 p.L909F 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 72 0 0.00 80 87 52.10 - - - HPS3 0 genome.wustl.edu 37 3 148880113 148880113 + Missense_Mutation SNP T T A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 3 148880113 148880113 T A SNP HPS3 ENST00000296051 human ensembl 69_37n +1 known missense c.2285 p.F762Y 0.994 pirsf_BLOC-2_complex_Hps3_subunit pirsf_BLOC-2_complex_Hps3_subunit - no_errors HPS3 HGNC ENSG00000163755 47 0 0.00 66 41 38.32 - - - HSD3B1 0 genome.wustl.edu 37 1 120054136 120054136 + Missense_Mutation SNP C C A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 1 120054136 120054136 C A SNP HSD3B1 ENST00000235547 human ensembl 69_37n +1 known missense c.162 p.N54K 0.311 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 39 0 0.00 45 37 45.12 - - - HUWE1 0 genome.wustl.edu 37 X 53581746 53581746 + Missense_Mutation SNP C C T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 X 53581746 53581746 C T SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.8342 p.G2781E 0.392 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 81 0 0.00 119 61 33.89 - - - IGSF10 0 genome.wustl.edu 37 3 151162894 151162894 + Silent SNP T T A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 3 151162894 151162894 T A SNP IGSF10 ENST00000282466 human ensembl 69_37n -1 known silent c.4875 p.P1625 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 150 0 0.00 141 82 36.61 - - - IL11 0 genome.wustl.edu 37 19 55880300 55880300 + Missense_Mutation SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 19 55880300 55880300 C G SNP IL11 ENST00000264563 human ensembl 69_37n -1 known missense c.17 p.R6P 0.997 pfam_Interleukin-11 pfam_Interleukin-11,superfamily_4_helix_cytokine-like_core,prints_Interleukin-11_mammalian,prints_Interleukin-11 - no_errors IL11 HGNC ENSG00000095752 14 0 0.00 3 10 76.92 - - - ITGA11 0 genome.wustl.edu 37 15 68612682 68612682 + Silent SNP T T A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 15 68612682 68612682 T A SNP ITGA11 ENST00000315757 human ensembl 69_37n -1 known silent c.2457 p.A819 0.005 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 31 0 0.00 29 23 44.23 - - - ITSN2 0 genome.wustl.edu 37 2 24494689 24494689 + Missense_Mutation SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 2 24494689 24494689 C G SNP ITSN2 ENST00000355123 human ensembl 69_37n -1 known missense c.2203 p.A735P 0.974 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 248 0 0.00 161 121 42.91 - - - KCNG1 0 genome.wustl.edu 37 20 49626537 49626537 + Silent SNP G G A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 20 49626537 49626537 G A SNP KCNG1 ENST00000371571 human ensembl 69_37n -1 known silent c.339 p.N113 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 20 0 0.00 8 32 80.00 - - - MUC20 0 genome.wustl.edu 37 3 195346312 195346312 + Missense_Mutation SNP C C T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 3 195346312 195346312 C T SNP MUC20 ENST00000381954 human ensembl 69_37n +1 known missense c.614 p.P205L 0.132 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 33 0 0.00 71 13 15.48 - - - MYBL1 0 genome.wustl.edu 37 8 67488508 67488508 + Nonsense_Mutation SNP C C A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 8 67488508 67488508 C A SNP MYBL1 ENST00000522677 human ensembl 69_37n -1 known nonsense c.1204 p.E402* 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 67 0 0.00 81 57 41.01 - - - MYF6 0 genome.wustl.edu 37 12 81101569 81101569 + Missense_Mutation SNP C C A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 12 81101569 81101569 C A SNP MYF6 ENST00000228641 human ensembl 69_37n +1 known missense c.71 p.P24Q 0.996 pfam_Basic,smart_Basic pfam_Basic,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_Basic,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MYF6 HGNC ENSG00000111046 56 0 0.00 18 37 67.27 - - - NFIX 0 genome.wustl.edu 37 19 13186433 13186433 + Silent SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 19 13186433 13186433 C G SNP NFIX ENST00000585575 human ensembl 69_37n +1 known silent c.879 p.S293 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIX HGNC ENSG00000008441 20 0 0.00 32 24 42.86 - - - OR2Z1 0 genome.wustl.edu 37 19 8841963 8841963 + Missense_Mutation SNP T T A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 19 8841963 8841963 T A SNP OR2Z1 ENST00000324060 human ensembl 69_37n +1 known missense c.573 p.D191E 0.993 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 56 0 0.00 137 51 27.13 - - - OR2Z1 0 genome.wustl.edu 37 19 8842092 8842092 + Missense_Mutation SNP A A T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 19 8842092 8842092 A T SNP OR2Z1 ENST00000324060 human ensembl 69_37n +1 known missense c.702 p.R234S 0.002 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 50 0 0.00 96 44 31.21 - - - OR5W2 0 genome.wustl.edu 37 11 55681285 55681285 + Missense_Mutation SNP C C T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 11 55681285 55681285 C T SNP OR5W2 ENST00000344514 human ensembl 69_37n -1 known missense c.774 p.M258I 0.995 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 OR5W2 HGNC ENSG00000187612 33 0 0.00 31 27 46.55 - - - PHOSPHO2 0 genome.wustl.edu 37 2 170558059 170558059 + Missense_Mutation SNP A A G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 2 170558059 170558059 A G SNP PHOSPHO2 ENST00000359744 human ensembl 69_37n +1 known missense c.578 p.D193G 0.136 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO2 HGNC ENSG00000144362 12 0 0.00 10 21 67.74 - - - PIK3CD 0 genome.wustl.edu 37 1 9777639 9777639 + Missense_Mutation SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 1 9777639 9777639 C G SNP PIK3CD ENST00000536656 human ensembl 69_37n +1 known missense c.870 p.I290M 0.008 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-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 PIK3CD HGNC ENSG00000171608 43 0 0.00 12 38 76.00 - - - PKLR 0 genome.wustl.edu 37 1 155263003 155263003 + Missense_Mutation SNP A A C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 1 155263003 155263003 A C SNP PKLR ENST00000342741 human ensembl 69_37n -1 known missense c.1401 p.C467W 1.000 pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 36 0 0.00 78 23 22.77 - - - PLIN4 0 genome.wustl.edu 37 19 4513410 4513410 + Nonsense_Mutation SNP G G A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 19 4513410 4513410 G A SNP PLIN4 ENST00000301286 human ensembl 69_37n -1 novel nonsense c.520 p.Q174* 0.887 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 36 0 0.00 45 55 55.00 - - - RAB14 0 genome.wustl.edu 37 9 123943823 123943823 + Missense_Mutation SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 9 123943823 123943823 C G SNP RAB14 ENST00000373840 human ensembl 69_37n -1 known missense c.499 p.E167Q 1.000 pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB14 HGNC ENSG00000119396 48 0 0.00 11 30 73.17 - - - RELN 0 genome.wustl.edu 37 7 103183246 103183246 + Missense_Mutation SNP G G C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 7 103183246 103183246 G C SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.6603 p.N2201K 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 53 0 0.00 40 23 36.51 - - - SALL2 0 genome.wustl.edu 37 14 22005013 22005013 + Missense_Mutation SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 14 22005013 22005013 C G SNP SALL2 ENST00000327430 human ensembl 69_37n -1 known missense c.43 p.D15H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 56 0 0.00 18 17 48.57 - - - SDHAP2 0 genome.wustl.edu 37 3 195399395 195399395 + RNA SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 3 195399395 195399395 C G SNP SDHAP2 ENST00000429897 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SDHAP2 HGNC ENSG00000215837 9 0 0.00 18 13 41.94 - - - SEPP1 0 genome.wustl.edu 37 5 42800932 42800932 + Missense_Mutation SNP G G C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 5 42800932 42800932 G C SNP SEPP1 ENST00000506577 human ensembl 69_37n -1 known missense c.1036 p.R346G 1.000 pfam_SelP_C pfam_Selenoprotein-P_N,pfam_SelP_C - pseudogene SEPP1 HGNC ENSG00000250722 55 0 0.00 63 44 41.12 - - - SIGLEC5 0 genome.wustl.edu 37 19 52115496 52115496 + Missense_Mutation SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 19 52115496 52115496 C G SNP SIGLEC5 ENST00000222107 human ensembl 69_37n -1 known missense c.1644 p.K548N 0.010 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC5 HGNC ENSG00000105501 64 0 0.00 11 25 69.44 - - - SLC34A1 0 genome.wustl.edu 37 5 176813238 176813238 + Silent SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 5 176813238 176813238 C G SNP SLC34A1 ENST00000324417 human ensembl 69_37n +1 known silent c.276 p.P92 0.022 NULL pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 43 0 0.00 16 27 62.79 - - - SLC9A5 0 genome.wustl.edu 37 16 67283105 67283105 + Splice_Site SNP G G T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 16 67283105 67283105 G T SNP SLC9A5 ENST00000299798 human ensembl 69_37n +1 known splice_site c.187+1 e1+1 1.000 - - - no_errors SLC9A5 HGNC ENSG00000135740 27 0 0.00 26 12 31.58 - - - STARD9 0 genome.wustl.edu 37 15 42977022 42977022 + Silent SNP A A C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 15 42977022 42977022 A C SNP STARD9 ENST00000290607 human ensembl 69_37n +1 known silent c.3246 p.P1082 0.000 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 25 0 0.00 18 23 56.10 - - - TCTA 0 genome.wustl.edu 37 3 49450057 49450057 + Silent SNP G G A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 3 49450057 49450057 G A SNP TCTA ENST00000273590 human ensembl 69_37n +1 known silent c.198 p.G66 1.000 pirsf_T-cell_leukemia_transloc-assoc pirsf_T-cell_leukemia_transloc-assoc - no_errors TCTA HGNC ENSG00000145022 41 0 0.00 22 37 62.71 - - - TP53 0 genome.wustl.edu 37 17 7577558 7577558 + Frame_Shift_Del DEL G G - TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 17 7577558 7577558 G - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.723 p.C242fs 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 49 0 0.00 24 61 69.32 - - - TSPEAR 0 genome.wustl.edu 37 21 45947265 45947265 + Silent SNP G G C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 21 45947265 45947265 G C SNP TSPEAR ENST00000323084 human ensembl 69_37n -1 known silent c.1059 p.V353 1.000 pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 131 0 0.00 172 109 38.79 - - - UBXN2B 0 genome.wustl.edu 37 8 59352284 59352284 + Missense_Mutation SNP G G C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 8 59352284 59352284 G C SNP UBXN2B ENST00000399598 human ensembl 69_37n +1 known missense c.626 p.R209T 0.696 pfam_SEP_domain,superfamily_SEP_domain,smart_SEP_domain pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2B HGNC ENSG00000215114 67 0 0.00 58 42 41.58 - - - WDFY4 0 genome.wustl.edu 37 10 50025362 50025362 + Missense_Mutation SNP G G A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 10 50025362 50025362 G A SNP WDFY4 ENST00000325239 human ensembl 69_37n +1 known missense c.5413 p.V1805I 0.138 NULL 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 12 0 0.00 22 14 38.89 - - - ZCWPW2 0 genome.wustl.edu 37 3 28557108 28557108 + Missense_Mutation SNP C C A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 3 28557108 28557108 C A SNP ZCWPW2 ENST00000383768 human ensembl 69_37n +1 known missense c.780 p.N260K 0.990 NULL pfam_Znf_CW,pfam_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 41 0 0.00 13 31 70.45 - - - ZFHX4 0 genome.wustl.edu 37 8 77764960 77764960 + Missense_Mutation SNP G G A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 8 77764960 77764960 G A SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.5803 p.G1935S 0.994 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 17 0 0.00 15 14 48.28 - - - ZNF407 0 genome.wustl.edu 37 18 72775227 72775227 + Silent SNP C C G TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 18 72775227 72775227 C G SNP ZNF407 ENST00000299687 human ensembl 69_37n +1 known silent c.5550 p.L1850 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 16 0 0.00 6 29 82.86 - - - ZNF733P 0 genome.wustl.edu 37 7 62752982 62752982 + RNA SNP T T A TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 7 62752982 62752982 T A SNP ZNF733P ENST00000331425 human ensembl 69_37n -1 known rna NULL NULL 0.365 - - - no_errors ZNF733P HGNC ENSG00000185037 12 0 0.00 5 5 50.00 - - - ZNF80 0 genome.wustl.edu 37 3 113955515 113955515 + Missense_Mutation SNP C C T TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fc6d77a9-121b-48ab-a899-713c3d1319a2 a070d518-b1fe-4505-86b5-fc08201a4b61 3 113955515 113955515 C T SNP ZNF80 ENST00000308095 human ensembl 69_37n -1 known missense c.407 p.S136N 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF80 HGNC ENSG00000174255 37 0 0.00 43 34 44.16 - - -