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 ABCC4 0 genome.wustl.edu 37 13 95861807 95861807 + Silent SNP C C A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 13 95861807 95861807 C A SNP ABCC4 ENST00000376887 human ensembl 69_37n -1 known silent c.666 p.A222 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM 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,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 19 0 0.00 41 34 45.33 - - - ACVR2A 0 genome.wustl.edu 37 2 148676044 148676044 + Missense_Mutation SNP A A T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 2 148676044 148676044 A T SNP ACVR2A ENST00000241416 human ensembl 69_37n +1 known missense c.845 p.N282I 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,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ENSG00000121989 96 0 0.00 192 75 28.09 - - - AFF3 0 genome.wustl.edu 37 2 100194863 100194863 + Silent SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 2 100194863 100194863 C T SNP AFF3 ENST00000356421 human ensembl 69_37n -1 known silent c.2919 p.P973 0.649 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 61 0 0.00 115 52 30.95 - - - ATAD2B 0 genome.wustl.edu 37 2 23980928 23980928 + Missense_Mutation SNP T T A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 2 23980928 23980928 T A SNP ATAD2B ENST00000238789 human ensembl 69_37n -1 known missense c.3438 p.K1146N 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 26 0 0.00 74 17 18.68 - - - ATG2B 0 genome.wustl.edu 37 14 96777942 96777942 + Silent SNP C C A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 14 96777942 96777942 C A SNP ATG2B ENST00000359933 human ensembl 69_37n -1 known silent c.3927 p.V1309 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 52 0 0.00 67 14 17.28 - - - BATF3 0 genome.wustl.edu 37 1 212860284 212860284 + Missense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 1 212860284 212860284 C T SNP BATF3 ENST00000243440 human ensembl 69_37n -1 known missense c.233 p.R78Q 1.000 pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,prints_Leuzip_Fos,pfscan_bZIP pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,prints_Leuzip_Fos,pfscan_bZIP - no_errors BATF3 HGNC ENSG00000123685 57 0 0.00 149 42 21.99 - - - C3orf24 0 genome.wustl.edu 37 3 10146113 10146113 + Missense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 3 10146113 10146113 C T SNP C3orf24 ENST00000450660 human ensembl 69_37n -1 known missense c.346 p.G116R 0.996 NULL NULL - no_errors C3orf24 HGNC ENSG00000163705 75 0 0.00 100 68 40.24 - - - C7orf57 0 genome.wustl.edu 37 7 48080992 48080992 + Silent SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 7 48080992 48080992 C T SNP C7orf57 ENST00000348904 human ensembl 69_37n +1 known silent c.117 p.S39 0.994 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 25 0 0.00 33 8 19.51 - - - CFH 0 genome.wustl.edu 37 1 196696041 196696041 + Missense_Mutation SNP G G C TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 1 196696041 196696041 G C SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.2207 p.G736A 0.966 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 50 0 0.00 95 19 16.67 - - - CFHR5 0 genome.wustl.edu 37 1 196973945 196973945 + Silent SNP A A G TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 1 196973945 196973945 A G SNP CFHR5 ENST00000367414 human ensembl 69_37n +1 known silent c.1557 p.K519 0.050 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 71 0 0.00 105 68 39.08 - - - CNBD1 0 genome.wustl.edu 37 8 87878778 87878778 + Missense_Mutation SNP A A G TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 8 87878778 87878778 A G SNP CNBD1 ENST00000518476 human ensembl 69_37n +1 known missense c.55 p.N19D 0.670 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 59 0 0.00 248 57 18.69 - - - CNTNAP3 0 genome.wustl.edu 37 9 39177396 39177396 + Silent SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 9 39177396 39177396 C T SNP CNTNAP3 ENST00000297668 human ensembl 69_37n -1 known silent c.846 p.T282 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 62 0 0.00 137 30 17.96 - - - COL4A6 0 genome.wustl.edu 37 X 107435784 107435784 + Missense_Mutation SNP C C A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e X 107435784 107435784 C A SNP COL4A6 ENST00000372216 human ensembl 69_37n -1 known missense c.1102 p.G368C 0.978 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 28 0 0.00 54 17 23.94 - - - DBR1 0 genome.wustl.edu 37 3 137886067 137886067 + Silent SNP A A C TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 3 137886067 137886067 A C SNP DBR1 ENST00000260803 human ensembl 69_37n -1 known silent c.570 p.L190 0.963 pfam_Metallo_PEstase_dom pfam_DBR1_C,pfam_Metallo_PEstase_dom - no_errors DBR1 HGNC ENSG00000138231 43 0 0.00 56 27 32.53 - - - DNAH7 0 genome.wustl.edu 37 2 196762433 196762433 + Silent SNP T T C TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 2 196762433 196762433 T C SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known silent c.4605 p.V1535 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 56 0 0.00 69 45 39.47 - - - DSCAM 0 genome.wustl.edu 37 21 42080507 42080507 + Silent SNP G G A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 21 42080507 42080507 G A SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known silent c.234 p.N78 1.000 smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ENSG00000171587 39 0 0.00 86 21 19.63 - - - EDA 0 genome.wustl.edu 37 X 68836476 68836476 + Silent SNP G G A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e X 68836476 68836476 G A SNP EDA ENST00000374552 human ensembl 69_37n +1 known silent c.324 p.Q108 0.097 NULL pfam_TNF,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,pfscan_TNF - no_errors EDA HGNC ENSG00000158813 24 0 0.00 21 5 19.23 - - - EIF5 0 genome.wustl.edu 37 14 103803551 103803551 + Silent SNP C C G TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 14 103803551 103803551 C G SNP EIF5 ENST00000216554 human ensembl 69_37n +1 known silent c.426 p.L142 1.000 NULL pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 41 0 0.00 104 40 27.78 - - - FAM171A1 0 genome.wustl.edu 37 10 15256166 15256166 + Missense_Mutation SNP C C A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 10 15256166 15256166 C A SNP FAM171A1 ENST00000378116 human ensembl 69_37n -1 known missense c.1421 p.R474I 0.019 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 28 0 0.00 75 13 14.77 - - - FASN 0 genome.wustl.edu 37 17 80051484 80051486 + In_Frame_Del DEL GAA GAA - TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 17 80051484 80051486 GAA - DEL FASN ENST00000306749 human ensembl 69_37n -1 known in_frame_del c.444_442 p.F148in_frame_del 0.962:1.000:1.000 pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 18 0 0.00 20 7 25.93 - - - FBXL7 0 genome.wustl.edu 37 5 15928218 15928218 + Missense_Mutation SNP G G A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 5 15928218 15928218 G A SNP FBXL7 ENST00000504595 human ensembl 69_37n +1 known missense c.347 p.R116Q 1.000 pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL7 HGNC ENSG00000183580 10 0 0.00 9 7 43.75 - - - FRMPD2 0 genome.wustl.edu 37 10 49450274 49450274 + Missense_Mutation SNP G G A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 10 49450274 49450274 G A SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known missense c.497 p.S166F 0.464 superfamily_Kinase-like_dom,smart_KIND pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 33 0 0.00 71 10 12.35 - - - GLP2R 0 genome.wustl.edu 37 17 9739689 9739689 + Silent SNP C C A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 17 9739689 9739689 C A SNP GLP2R ENST00000262441 human ensembl 69_37n +1 known silent c.279 p.G93 0.000 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 117 1 0.85 196 152 43.68 - - - GOLGA6L6 0 genome.wustl.edu 37 15 20740459 20740461 + In_Frame_Del DEL TCG TCG - TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 TCG TCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 15 20740459 20740461 TCG - DEL GOLGA6L6 ENST00000427390 human ensembl 69_37n -1 known in_frame_del c.1291_1289 p.AK430in_frame_delE 0.966:0.963:0.960 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 13 0 0.00 6 3 33.33 - - - GPR32 0 genome.wustl.edu 37 19 51274851 51274851 + Missense_Mutation SNP A A C TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 19 51274851 51274851 A C SNP GPR32 ENST00000270590 human ensembl 69_37n +1 known missense c.994 p.T332P 0.018 prints_Frt_met_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt - no_errors GPR32 HGNC ENSG00000142511 34 0 0.00 69 12 14.81 - - - GUSBP11 0 genome.wustl.edu 37 22 24037483 24037483 + RNA SNP A A T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 22 24037483 24037483 A T SNP GUSBP11 ENST00000421064 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GUSBP11 HGNC ENSG00000228315 9 0 0.00 2 6 75.00 - - - IGHV4-61 0 genome.wustl.edu 37 14 107095423 107095423 + Silent SNP G G A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 14 107095423 107095423 G A SNP IGHV4-61 ENST00000390630 human ensembl 69_37n -1 known silent c.57 p.S19 0.987 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV4-61 HGNC ENSG00000211970 31 0 0.00 65 8 10.96 - - - KLC3 0 genome.wustl.edu 37 19 45848976 45848976 + Silent SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 19 45848976 45848976 C T SNP KLC3 ENST00000470402 human ensembl 69_37n +1 known silent c.219 p.A73 0.001 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC3 HGNC ENSG00000104892 9 0 0.00 2 7 77.78 - - - LAMC1 0 genome.wustl.edu 37 1 183090900 183090900 + Missense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 1 183090900 183090900 C T SNP LAMC1 ENST00000258341 human ensembl 69_37n +1 known missense c.2033 p.P678L 0.985 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 68 0 0.00 199 86 30.18 - - - LAMP5 0 genome.wustl.edu 37 20 9510417 9510417 + Missense_Mutation SNP A A T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 20 9510417 9510417 A T SNP LAMP5 ENST00000246070 human ensembl 69_37n +1 known missense c.793 p.N265Y 1.000 NULL pfam_Lysosome-assoc_membr_glycop - no_errors LAMP5 HGNC ENSG00000125869 38 0 0.00 95 19 16.67 - - - MAGED1 0 genome.wustl.edu 37 X 51640687 51640687 + Nonsense_Mutation SNP G G T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e X 51640687 51640687 G T SNP MAGED1 ENST00000375695 human ensembl 69_37n +1 known nonsense c.1699 p.E567* 1.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 90 0 0.00 129 36 21.82 - - - NBEAL1 0 genome.wustl.edu 37 2 204030948 204030948 + Missense_Mutation SNP G G T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 2 204030948 204030948 G T SNP NBEAL1 ENST00000449802 human ensembl 69_37n +1 known missense c.5704 p.V1902L 0.553 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 71 0 0.00 152 22 12.64 - - - OR52E8 0 genome.wustl.edu 37 11 5878074 5878074 + Missense_Mutation SNP C C G TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 11 5878074 5878074 C G SNP OR52E8 ENST00000537935 human ensembl 69_37n -1 known missense c.859 p.V287L 0.038 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 43 0 0.00 145 28 16.09 - - - OR5B3 0 genome.wustl.edu 37 11 58170702 58170702 + Missense_Mutation SNP G G C TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 11 58170702 58170702 G C SNP OR5B3 ENST00000309403 human ensembl 69_37n -1 known missense c.181 p.L61V 0.999 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5B3 HGNC ENSG00000172769 32 0 0.00 87 16 15.53 - - - PCSK5 0 genome.wustl.edu 37 9 78789962 78789962 + Missense_Mutation SNP C C G TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 9 78789962 78789962 C G SNP PCSK5 ENST00000545128 human ensembl 69_37n +1 known missense c.1817 p.T606S 1.000 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 74 0 0.00 101 47 31.76 - - - PUS1 0 genome.wustl.edu 37 12 132426329 132426329 + Missense_Mutation SNP G G A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 12 132426329 132426329 G A SNP PUS1 ENST00000376649 human ensembl 69_37n +1 known missense c.1037 p.R346H 1.000 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS1 HGNC ENSG00000177192 21 0 0.00 41 10 19.61 - - - RPS6KB2 0 genome.wustl.edu 37 11 67196636 67196636 + Silent SNP G G A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 11 67196636 67196636 G A SNP RPS6KB2 ENST00000312629 human ensembl 69_37n +1 known silent c.165 p.V55 1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom - no_errors RPS6KB2 HGNC ENSG00000175634 23 0 0.00 24 9 27.27 - - - SCCPDH 0 genome.wustl.edu 37 1 246890254 246890254 + Missense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 1 246890254 246890254 C T SNP SCCPDH ENST00000366510 human ensembl 69_37n +1 known missense c.251 p.S84L 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 58 0 0.00 275 36 11.58 - - - SEPT7P2 0 genome.wustl.edu 37 7 45767787 45767787 + RNA SNP G G A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 7 45767787 45767787 G A SNP SEPT7P2 ENST00000338231 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SEPT7P2 HGNC ENSG00000214765 35 0 0.00 75 16 17.58 - - - SLC4A11 0 genome.wustl.edu 37 20 3209652 3209652 + Missense_Mutation SNP A A C TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 20 3209652 3209652 A C SNP SLC4A11 ENST00000380059 human ensembl 69_37n -1 known missense c.2153 p.V718G 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 20 0 0.00 64 23 26.14 - - - SLX4 0 genome.wustl.edu 37 16 3641097 3641097 + Missense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 16 3641097 3641097 C T SNP SLX4 ENST00000294008 human ensembl 69_37n -1 known missense c.2542 p.E848K 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 89 0 0.00 250 111 30.75 - - - SPTA1 0 genome.wustl.edu 37 1 158604413 158604413 + Missense_Mutation SNP C C G TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 1 158604413 158604413 C G SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.5485 p.E1829Q 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 86 0 0.00 267 55 17.08 - - - TP53 0 genome.wustl.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 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 48 0 0.00 47 57 54.81 - - - TROVE2 0 genome.wustl.edu 37 1 193038629 193038629 + Missense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 1 193038629 193038629 C T SNP TROVE2 ENST00000367441 human ensembl 69_37n +1 known missense c.445 p.R149W 1.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 46 0 0.00 102 13 11.30 - - - TTN 0 genome.wustl.edu 37 2 179497253 179497253 + Missense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 2 179497253 179497253 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.35776 p.G11926R 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub 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 76 0 0.00 120 27 18.37 - - - TUBA3C 0 genome.wustl.edu 37 13 19752468 19752468 + Missense_Mutation SNP T T A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 13 19752468 19752468 T A SNP TUBA3C ENST00000400113 human ensembl 69_37n -1 known missense c.293 p.D98V 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 84 0 0.00 228 39 14.55 - - - VPS13B 0 genome.wustl.edu 37 8 100832306 100832306 + Silent SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 8 100832306 100832306 C T SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known silent c.9025 p.L3009 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 70 0 0.00 165 25 13.16 - - - WWC2 0 genome.wustl.edu 37 4 184129264 184129264 + Nonsense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 4 184129264 184129264 C T SNP WWC2 ENST00000448232 human ensembl 69_37n +1 known nonsense c.400 p.R134* 0.995 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC2 HGNC ENSG00000151718 22 0 0.00 44 27 38.03 - - - ZFP92 0 genome.wustl.edu 37 X 152686448 152686448 + Missense_Mutation SNP G G A TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e X 152686448 152686448 G A SNP ZFP92 ENST00000338647 human ensembl 69_37n +1 known missense c.613 p.E205K 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP92 HGNC ENSG00000189420 25 0 0.00 53 10 15.87 - - - ZNF284 0 genome.wustl.edu 37 19 44590278 44590278 + Missense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 19 44590278 44590278 C T SNP ZNF284 ENST00000421176 human ensembl 69_37n +1 known missense c.647 p.S216L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF284 HGNC ENSG00000186026 43 0 0.00 135 41 23.30 - - - ZNF547 0 genome.wustl.edu 37 19 57883271 57883271 + Missense_Mutation SNP C C T TCGA-BH-A1F2-01A-31D-A13L-09 TCGA-BH-A1F2-11A-32D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a5c67494-d843-4b14-ba9c-d077396ed2dc 3b15c929-09bb-49b8-914c-b0a5e32ddd3e 19 57883271 57883271 C T SNP ZNF547 ENST00000282282 human ensembl 69_37n +1 known missense c.146 p.S49L 0.042 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF547 HGNC ENSG00000152433 137 0 0.00 419 95 18.45 - - -