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 ABCA2 0 genome.wustl.edu 37 9 139911974 139911974 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 9 139911974 139911974 C T SNP ABCA2 ENST00000479446 human ensembl 69_37n -1 known missense c.431 p.R144Q 0.056 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABCA2 HGNC ENSG00000107331 42 0 0.00 16 11 40.74 - - - ABCA4 0 genome.wustl.edu 37 1 94481381 94481381 + Silent SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 1 94481381 94481381 C G SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known silent c.5226 p.V1742 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 51 0 0.00 47 31 39.74 - - - ANKHD1 0 genome.wustl.edu 37 5 139889648 139889648 + Missense_Mutation SNP T T A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 5 139889648 139889648 T A SNP ANKHD1 ENST00000297183 human ensembl 69_37n +1 known missense c.3986 p.L1329H 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_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 95 0 0.00 23 18 43.90 - - - AP1M2 0 genome.wustl.edu 37 19 10692038 10692038 + Nonsense_Mutation SNP C C A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 10692038 10692038 C A SNP AP1M2 ENST00000590923 human ensembl 69_37n -1 known nonsense c.577 p.E193* 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M2 HGNC ENSG00000129354 68 0 0.00 40 9 18.00 - - - ASXL1 0 genome.wustl.edu 37 20 31023752 31023752 + Silent SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 20 31023752 31023752 C G SNP ASXL1 ENST00000375687 human ensembl 69_37n +1 known silent c.3237 p.S1079 0.894 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 45 0 0.00 22 11 33.33 - - - ASXL3 0 genome.wustl.edu 37 18 31250678 31250678 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 18 31250678 31250678 G T SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known missense c.519 p.M173I 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 38 0 0.00 30 12 28.57 - - - C10orf91 0 genome.wustl.edu 37 10 134261353 134261353 + Missense_Mutation SNP A A G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 10 134261353 134261353 A G SNP C10orf91 ENST00000321248 human ensembl 69_37n +1 known missense c.226 p.T76A 0.001 NULL NULL - no_errors C10orf91 HGNC ENSG00000180066 39 0 0.00 25 9 26.47 - - - C16orf87 0 genome.wustl.edu 37 16 46843576 46843576 + Missense_Mutation SNP A A C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 16 46843576 46843576 A C SNP C16orf87 ENST00000285697 human ensembl 69_37n -1 known missense c.285 p.H95Q 1.000 NULL pfam_UPF0547 - no_errors C16orf87 HGNC ENSG00000155330 85 0 0.00 98 18 15.52 - - - C16orf87 0 genome.wustl.edu 37 16 46843631 46843631 + Missense_Mutation SNP A A T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 16 46843631 46843631 A T SNP C16orf87 ENST00000285697 human ensembl 69_37n -1 known missense c.230 p.V77E 1.000 NULL pfam_UPF0547 - no_errors C16orf87 HGNC ENSG00000155330 70 0 0.00 96 13 11.93 - - - C5orf42 0 genome.wustl.edu 37 5 37108550 37108550 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 5 37108550 37108550 G A SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known silent c.9262 p.L3088 0.001 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 49 0 0.00 42 5 10.64 - - - CABYR 0 genome.wustl.edu 37 18 21736512 21736512 + Missense_Mutation SNP A A C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 18 21736512 21736512 A C SNP CABYR ENST00000463087 human ensembl 69_37n +1 known missense c.1047 p.E349D 0.000 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 32 0 0.00 20 9 31.03 - - - CACNA1G 0 genome.wustl.edu 37 17 48653606 48653606 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 48653606 48653606 G T SNP CACNA1G ENST00000359106 human ensembl 69_37n +1 known missense c.1843 p.G615W 0.991 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 46 0 0.00 16 16 50.00 - - - CARD11 0 genome.wustl.edu 37 7 2962874 2962874 + Silent SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 7 2962874 2962874 G T SNP CARD11 ENST00000396946 human ensembl 69_37n -1 known silent c.2034 p.S678 0.002 superfamily_PDZ pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 90 0 0.00 36 35 49.30 - - - CASR 0 genome.wustl.edu 37 3 121976050 121976050 + Missense_Mutation SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 3 121976050 121976050 C G SNP CASR ENST00000498619 human ensembl 69_37n +1 known missense c.308 p.T103S 0.999 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 38 0 0.00 28 6 17.65 - - - CCNT1 0 genome.wustl.edu 37 12 49093563 49093563 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 12 49093563 49093563 C T SNP CCNT1 ENST00000261900 human ensembl 69_37n -1 known missense c.494 p.R165Q 1.000 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 44 0 0.00 29 5 14.71 - - - CDCA4 0 genome.wustl.edu 37 14 105478225 105478226 + Frame_Shift_Ins INS - - T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 14 105478225 105478226 - T INS CDCA4 ENST00000336219 human ensembl 69_37n -1 known frame_shift_ins c.42_41 p.E15fs 0.986:0.995 NULL pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 31 0 0.00 5 2 28.57 - - - CIB2 0 genome.wustl.edu 37 15 78401589 78401589 + Missense_Mutation SNP A A T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 15 78401589 78401589 A T SNP CIB2 ENST00000258930 human ensembl 69_37n -1 known missense c.334 p.F112I 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB2 HGNC ENSG00000136425 84 0 0.00 46 22 32.35 - - - CLIP4 0 genome.wustl.edu 37 2 29368177 29368178 + Frame_Shift_Ins INS - - A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 2 29368177 29368178 - A INS CLIP4 ENST00000402240 human ensembl 69_37n +1 known frame_shift_ins c.965_966 p.N324fs 1.000:0.863 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 88 0 0.00 76 13 14.61 - - - CNTNAP1 0 genome.wustl.edu 37 17 40838951 40838951 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 40838951 40838951 C T SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known missense c.931 p.R311W 0.001 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_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 64 0 0.00 20 12 37.50 - - - CNTRL 0 genome.wustl.edu 37 9 123908390 123908390 + Missense_Mutation SNP C C A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 9 123908390 123908390 C A SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known missense c.3315 p.N1105K 0.985 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 47 0 0.00 46 27 36.99 - - - COL12A1 0 genome.wustl.edu 37 6 75875406 75875406 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 6 75875406 75875406 C T SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.2800 p.G934S 0.181 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 92 0 0.00 42 18 30.00 - - - CPNE8 0 genome.wustl.edu 37 12 39155972 39155972 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 12 39155972 39155972 G T SNP CPNE8 ENST00000331366 human ensembl 69_37n -1 known missense c.622 p.P208T 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 56 0 0.00 42 10 19.23 - - - CRB1 0 genome.wustl.edu 37 1 197313516 197313516 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 1 197313516 197313516 G T SNP CRB1 ENST00000367400 human ensembl 69_37n +1 known missense c.758 p.G253V 1.000 pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 134 0 0.00 99 24 19.51 - - - CXADR 0 genome.wustl.edu 37 21 18933695 18933695 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 21 18933695 18933695 G A SNP CXADR ENST00000284878 human ensembl 69_37n +1 known missense c.734 p.G245E 0.997 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CXADR HGNC ENSG00000154639 58 0 0.00 25 7 21.88 - - - DHX37 0 genome.wustl.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 12 125465270 125465272 CTC - DEL DHX37 ENST00000308736 human ensembl 69_37n -1 known in_frame_del c.504_502 p.E168in_frame_del 0.904:0.904:0.905 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 75 0 0.00 37 5 11.90 - - - DOCK5 0 genome.wustl.edu 37 8 25222170 25222170 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 8 25222170 25222170 G T SNP DOCK5 ENST00000276440 human ensembl 69_37n +1 known missense c.3073 p.A1025S 0.996 superfamily_ARM-type_fold pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 51 0 0.00 16 3 15.79 - - - DSC2 0 genome.wustl.edu 37 18 28648096 28648096 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 18 28648096 28648096 G A SNP DSC2 ENST00000280904 human ensembl 69_37n -1 known missense c.2591 p.S864L 0.828 pfam_Cadherin_cytoplasmic-dom,prints_Desmo_cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin - no_errors DSC2 HGNC ENSG00000134755 71 0 0.00 43 6 12.24 - - - DUSP15 0 genome.wustl.edu 37 20 30436212 30436212 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 20 30436212 30436212 G A SNP DUSP15 ENST00000278979 human ensembl 69_37n -1 known missense c.883 p.R295C 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,superfamily_SMAD_FHA_domain,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP15 HGNC ENSG00000149599 39 0 0.00 23 8 25.81 - - - ECEL1 0 genome.wustl.edu 37 2 233347316 233347316 + Missense_Mutation SNP C C A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 2 233347316 233347316 C A SNP ECEL1 ENST00000304546 human ensembl 69_37n -1 known missense c.1688 p.W563L 1.000 prints_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 32 0 0.00 30 15 33.33 - - - EXOSC9 0 genome.wustl.edu 37 4 122725813 122725813 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 4 122725813 122725813 C T SNP EXOSC9 ENST00000379663 human ensembl 69_37n +1 known missense c.421 p.H141Y 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 58 0 0.00 55 15 21.43 - - - F5 0 genome.wustl.edu 37 1 169494107 169494107 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 1 169494107 169494107 G T SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.5771 p.S1924Y 0.984 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 44 0 0.00 31 8 20.51 - - - FGF18 0 genome.wustl.edu 37 5 170863146 170863146 + Missense_Mutation SNP A A G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 5 170863146 170863146 A G SNP FGF18 ENST00000274625 human ensembl 69_37n +1 known missense c.119 p.Q40R 1.000 superfamily_Cytokine_IL1-like pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF18 HGNC ENSG00000156427 41 0 0.00 24 9 27.27 - - - FSCN2 0 genome.wustl.edu 37 17 79495875 79495875 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 79495875 79495875 G A SNP FSCN2 ENST00000334850 human ensembl 69_37n +1 known silent c.318 p.P106 0.602 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN2 HGNC ENSG00000186765 19 0 0.00 5 7 58.33 - - - FYB 0 genome.wustl.edu 37 5 39203057 39203057 + Silent SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 5 39203057 39203057 C T SNP FYB ENST00000540520 human ensembl 69_37n -1 known silent c.36 p.A12 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 68 0 0.00 75 22 22.68 - - - GABRE 0 genome.wustl.edu 37 X 151129811 151129811 + Missense_Mutation SNP A A T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 X 151129811 151129811 A T SNP GABRE ENST00000370328 human ensembl 69_37n -1 known missense c.590 p.L197H 0.933 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 30 0 0.00 11 4 26.67 - - - GALNTL1 0 genome.wustl.edu 37 14 69806254 69806254 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 14 69806254 69806254 C T SNP GALNTL1 ENST00000337827 human ensembl 69_37n +1 known missense c.1105 p.R369C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL1 HGNC ENSG00000100626 77 0 0.00 29 15 34.09 - - - GCLM 0 genome.wustl.edu 37 1 94363437 94363437 + Missense_Mutation SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 1 94363437 94363437 C G SNP GCLM ENST00000370238 human ensembl 69_37n -1 known missense c.295 p.E99Q 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors GCLM HGNC ENSG00000023909 38 0 0.00 20 293 93.61 - - - GEMIN4 0 genome.wustl.edu 37 17 649083 649085 + In_Frame_Del DEL CCA CCA - TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 649083 649085 CCA - DEL GEMIN4 ENST00000319004 human ensembl 69_37n -1 known in_frame_del c.2200_2198 p.LE733in_frame_delQ 0.094:0.129:0.999 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 30 0 0.00 18 3 14.29 - - - GEMIN4 0 genome.wustl.edu 37 17 649104 649104 + Frame_Shift_Del DEL C C - TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 649104 649104 C - DEL GEMIN4 ENST00000319004 human ensembl 69_37n -1 known frame_shift_del c.2179 p.D727fs 1.000 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 30 0 0.00 11 3 21.43 - - - GFPT2 0 genome.wustl.edu 37 5 179740926 179740927 + Frame_Shift_Ins INS - - A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 5 179740926 179740927 - A INS GFPT2 ENST00000253778 human ensembl 69_37n -1 known frame_shift_ins c.1312_1311 p.K437fs 1.000:0.889 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 48 0 0.00 11 2 15.38 - - - GLUD2 0 genome.wustl.edu 37 X 120181966 120181966 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 X 120181966 120181966 G A SNP GLUD2 ENST00000328078 human ensembl 69_37n +1 known missense c.428 p.R143H 1.000 pfam_Glu/Leu/Phe/Val_DH_dimer_dom pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 157 0 0.00 129 43 25.00 - - - GOT2 0 genome.wustl.edu 37 16 58742155 58742155 + Missense_Mutation SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 16 58742155 58742155 C G SNP GOT2 ENST00000245206 human ensembl 69_37n -1 known missense c.1213 p.D405H 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans - no_errors GOT2 HGNC ENSG00000125166 25 0 0.00 21 8 27.59 - - - GP6 0 genome.wustl.edu 37 19 55526454 55526454 + Missense_Mutation SNP C C A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 55526454 55526454 C A SNP GP6 ENST00000310373 human ensembl 69_37n -1 known missense c.859 p.V287F 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 55 0 0.00 34 11 24.44 - - - HERC2P2 0 genome.wustl.edu 37 15 23282925 23282925 + RNA SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 15 23282925 23282925 G T SNP HERC2P2 ENST00000560464 human ensembl 69_37n -1 known rna NULL NULL 0.971 - - - no_errors HERC2P2 HGNC ENSG00000140181 19 0 0.00 15 7 31.82 - - - HNF1A 0 genome.wustl.edu 37 12 121434696 121434696 + Missense_Mutation SNP T T A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 12 121434696 121434696 T A SNP HNF1A ENST00000543427 human ensembl 69_37n +1 known missense c.1109 p.I370N 0.000 NULL pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1A HGNC ENSG00000135100 34 0 0.00 8 10 55.56 - - - HOXA-AS2 0 genome.wustl.edu 37 7 27155873 27155873 + RNA SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 7 27155873 27155873 G A SNP HOXA-AS2 ENST00000517635 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors HOXA-AS2 HGNC ENSG00000253552 48 0 0.00 37 35 48.61 - - - HS3ST2 0 genome.wustl.edu 37 16 22926804 22926804 + Missense_Mutation SNP T T A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 16 22926804 22926804 T A SNP HS3ST2 ENST00000261374 human ensembl 69_37n +1 known missense c.1025 p.I342K 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST2 HGNC ENSG00000122254 14 0 0.00 14 6 30.00 - - - HS3ST2 0 genome.wustl.edu 37 16 22926805 22926805 + Silent SNP A A T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 16 22926805 22926805 A T SNP HS3ST2 ENST00000261374 human ensembl 69_37n +1 known silent c.1026 p.I342 0.998 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST2 HGNC ENSG00000122254 14 0 0.00 14 6 30.00 - - - IGF2R 0 genome.wustl.edu 37 6 160450647 160450647 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 6 160450647 160450647 C T SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known missense c.842 p.A281V 0.274 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 65 0 0.00 53 9 14.52 - - - ILVBL 0 genome.wustl.edu 37 19 15227044 15227044 + Missense_Mutation SNP G G C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 15227044 15227044 G C SNP ILVBL ENST00000263383 human ensembl 69_37n -1 known missense c.1390 p.L464V 0.962 NULL pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 50 0 0.00 40 10 20.00 - - - ITSN2 0 genome.wustl.edu 37 2 24432862 24432862 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 2 24432862 24432862 C T SNP ITSN2 ENST00000355123 human ensembl 69_37n -1 known missense c.4298 p.R1433Q 1.000 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 77 0 0.00 69 14 16.87 - - - KCNAB2 0 genome.wustl.edu 37 1 6142261 6142261 + Nonsense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 1 6142261 6142261 G T SNP KCNAB2 ENST00000378083 human ensembl 69_37n +1 known nonsense c.307 p.E103* 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB2 HGNC ENSG00000069424 85 0 0.00 25 4 13.79 - - - KCNJ15 0 genome.wustl.edu 37 21 39671401 39671401 + Missense_Mutation SNP C C A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 21 39671401 39671401 C A SNP KCNJ15 ENST00000328656 human ensembl 69_37n +1 known missense c.218 p.T73N 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 92 0 0.00 63 13 17.11 - - - KCNJ15 0 genome.wustl.edu 37 21 39671427 39671427 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 21 39671427 39671427 G A SNP KCNJ15 ENST00000328656 human ensembl 69_37n +1 known missense c.244 p.G82R 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 110 0 0.00 61 11 15.28 - - - KCNJ15 0 genome.wustl.edu 37 21 39671430 39671430 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 21 39671430 39671430 G T SNP KCNJ15 ENST00000328656 human ensembl 69_37n +1 known missense c.247 p.V83F 0.858 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 112 0 0.00 63 11 14.86 - - - KEL 0 genome.wustl.edu 37 7 142649695 142649695 + Silent SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 7 142649695 142649695 C T SNP KEL ENST00000355265 human ensembl 69_37n -1 known silent c.1104 p.G368 0.675 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 55 0 0.00 32 12 27.27 - - - KIF16B 0 genome.wustl.edu 37 20 16337021 16337021 + Missense_Mutation SNP A A G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 20 16337021 16337021 A G SNP KIF16B ENST00000354981 human ensembl 69_37n -1 known missense c.3575 p.V1192A 1.000 superfamily_Phox,smart_Phox,pfscan_Phox pfam_Kinesin_motor_dom,pfam_Phox,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Phox,smart_Kinesin_motor_dom,smart_Phox,pfscan_Phox,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 47 0 0.00 22 17 43.59 - - - KRT75 0 genome.wustl.edu 37 12 52818468 52818468 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 12 52818468 52818468 C T SNP KRT75 ENST00000252245 human ensembl 69_37n -1 known missense c.1489 p.G497S 0.001 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 98 0 0.00 49 13 20.97 - - - LAMA1 0 genome.wustl.edu 37 18 7036046 7036046 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 18 7036046 7036046 G A SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known silent c.1779 p.Y593 0.949 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 60 0 0.00 29 5 14.71 - - - LIN37 0 genome.wustl.edu 37 19 36245034 36245034 + Missense_Mutation SNP G G C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 36245034 36245034 G C SNP LIN37 ENST00000301159 human ensembl 69_37n +1 known missense c.561 p.E187D 1.000 NULL NULL - no_errors LIN37 HGNC ENSG00000267796 64 0 0.00 46 20 30.30 - - - LIPC 0 genome.wustl.edu 37 15 58855765 58855765 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 15 58855765 58855765 G A SNP LIPC ENST00000299022 human ensembl 69_37n +1 known missense c.1231 p.G411S 1.000 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,pfscan_LipOase_LH2 pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase,pfscan_LipOase_LH2 - no_errors LIPC HGNC ENSG00000166035 53 0 0.00 24 14 36.84 - - - LRRC66 0 genome.wustl.edu 37 4 52861808 52861808 + Silent SNP C C A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 4 52861808 52861808 C A SNP LRRC66 ENST00000343457 human ensembl 69_37n -1 known silent c.1380 p.V460 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 123 0 0.00 103 22 17.60 - - - LRRC66 0 genome.wustl.edu 37 4 52883476 52883476 + Missense_Mutation SNP A A C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 4 52883476 52883476 A C SNP LRRC66 ENST00000343457 human ensembl 69_37n -1 known missense c.304 p.L102V 0.006 pfam_Leu-rich_rpt pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 41 0 0.00 37 6 13.95 - - - MORC3 0 genome.wustl.edu 37 21 37713805 37713805 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 21 37713805 37713805 G A SNP MORC3 ENST00000400485 human ensembl 69_37n +1 known silent c.717 p.R239 0.527 superfamily_ATPase-like_ATP-bd pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 39 0 0.00 31 8 20.51 - - - MPP4 0 genome.wustl.edu 37 2 202510093 202510093 + Missense_Mutation SNP T T A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 2 202510093 202510093 T A SNP MPP4 ENST00000359962 human ensembl 69_37n -1 known missense c.1754 p.Q585L 0.997 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP4 HGNC ENSG00000082126 42 0 0.00 38 14 26.92 - - - MTMR3 0 genome.wustl.edu 37 22 30405064 30405064 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 22 30405064 30405064 G A SNP MTMR3 ENST00000401950 human ensembl 69_37n +1 known missense c.1067 p.R356Q 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 47 0 0.00 9 17 65.38 - - - MYOM1 0 genome.wustl.edu 37 18 3094299 3094299 + Missense_Mutation SNP G G C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 18 3094299 3094299 G C SNP MYOM1 ENST00000356443 human ensembl 69_37n -1 known missense c.3733 p.P1245A 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC ENSG00000101605 61 0 0.00 49 14 22.22 - - - NCKAP5 0 genome.wustl.edu 37 2 133540920 133540920 + Missense_Mutation SNP T T A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 2 133540920 133540920 T A SNP NCKAP5 ENST00000317721 human ensembl 69_37n -1 known missense c.3464 p.K1155M 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 77 0 0.00 64 24 27.27 - - - NFASC 0 genome.wustl.edu 37 1 204950942 204950942 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 1 204950942 204950942 C T SNP NFASC ENST00000367172 human ensembl 69_37n +1 known missense c.2264 p.S755L 0.827 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC ENSG00000163531 51 0 0.00 31 6 16.22 - - - NOD2 0 genome.wustl.edu 37 16 50745994 50745994 + Silent SNP A A C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 16 50745994 50745994 A C SNP NOD2 ENST00000300589 human ensembl 69_37n +1 known silent c.2172 p.P724 0.001 NULL pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 50 0 0.00 40 12 23.08 - - - NOS1 0 genome.wustl.edu 37 12 117669907 117669907 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 12 117669907 117669907 G A SNP NOS1 ENST00000317775 human ensembl 69_37n -1 known missense c.3265 p.R1089C 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 101 0 0.00 42 20 32.26 - - - NUB1 0 genome.wustl.edu 37 7 151052933 151052933 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 7 151052933 151052933 G A SNP NUB1 ENST00000568733 human ensembl 69_37n +1 known silent c.567 p.A189 0.000 NULL pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 36 0 0.00 41 13 24.07 - - - OR4M1 0 genome.wustl.edu 37 14 20248587 20248587 + Silent SNP T T C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 14 20248587 20248587 T C SNP OR4M1 ENST00000315957 human ensembl 69_37n +1 known silent c.106 p.L36 0.236 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4M1 HGNC ENSG00000176299 123 0 0.00 80 11 12.09 - - - PCDHA4 0 genome.wustl.edu 37 5 140188134 140188134 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 5 140188134 140188134 G A SNP PCDHA4 ENST00000530339 human ensembl 69_37n +1 known silent c.1362 p.A454 0.000 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 118 0 0.00 98 48 32.88 - - - PCLO 0 genome.wustl.edu 37 7 82544297 82544297 + Frame_Shift_Del DEL G G - TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 7 82544297 82544297 G - DEL PCLO ENST00000333891 human ensembl 69_37n -1 known frame_shift_del c.13005 p.R4336fs 0.760 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 52 0 0.00 37 13 25.00 - - - PDZD7 0 genome.wustl.edu 37 10 102783752 102783752 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 10 102783752 102783752 G A SNP PDZD7 ENST00000370215 human ensembl 69_37n -1 known silent c.300 p.S100 0.649 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC ENSG00000186862 45 0 0.00 27 8 22.86 - - - PDZRN4 0 genome.wustl.edu 37 12 41961642 41961642 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 12 41961642 41961642 G A SNP PDZRN4 ENST00000402685 human ensembl 69_37n +1 known missense c.1525 p.E509K 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 82 0 0.00 48 9 15.79 - - - PIK3C3 0 genome.wustl.edu 37 18 39593429 39593429 + Silent SNP A A G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 18 39593429 39593429 A G SNP PIK3C3 ENST00000262039 human ensembl 69_37n +1 known silent c.1194 p.Q398 0.992 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 36 0 0.00 39 5 11.36 - - - PLEKHM1 0 genome.wustl.edu 37 17 43514454 43514454 + RNA SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 43514454 43514454 C T SNP PLEKHM1 ENST00000580404 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PLEKHM1 HGNC ENSG00000225190 49 0 0.00 51 11 17.74 - - - PPFIA1 0 genome.wustl.edu 37 11 70211384 70211384 + RNA SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 11 70211384 70211384 C T SNP PPFIA1 ENST00000530548 human ensembl 69_37n +1 known rna NULL NULL 0.957 - - - no_errors PPFIA1 HGNC ENSG00000131626 8 0 0.00 10 5 33.33 - - - QSER1 0 genome.wustl.edu 37 11 32956872 32956872 + Missense_Mutation SNP T T A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 11 32956872 32956872 T A SNP QSER1 ENST00000524678 human ensembl 69_37n +1 putative missense c.743 p.L248H 0.998 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region QSER1 HGNC ENSG00000060749 34 0 0.00 29 10 25.64 - - - RASGRP2 0 genome.wustl.edu 37 11 64502632 64502632 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 11 64502632 64502632 C T SNP RASGRP2 ENST00000377494 human ensembl 69_37n -1 known missense c.1364 p.R455H 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 58 0 0.00 34 6 15.00 - - - RYR3 0 genome.wustl.edu 37 15 34021156 34021156 + Missense_Mutation SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 15 34021156 34021156 C G SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.7132 p.Q2378E 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 75 0 0.00 88 34 27.87 - - - RYR3 0 genome.wustl.edu 37 15 34021165 34021165 + Missense_Mutation SNP C C A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 15 34021165 34021165 C A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.7141 p.L2381M 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 80 0 0.00 87 36 29.27 - - - RYR3 0 genome.wustl.edu 37 15 34080597 34080597 + Silent SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 15 34080597 34080597 G T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.9768 p.A3256 0.103 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 55 0 0.00 30 4 11.76 - - - SDHAP1 0 genome.wustl.edu 37 3 195711498 195711498 + RNA SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 3 195711498 195711498 G A SNP SDHAP1 ENST00000427841 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 219 0 0.00 207 26 11.16 - - - SIN3B 0 genome.wustl.edu 37 19 16980796 16980796 + Missense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 16980796 16980796 C T SNP SIN3B ENST00000379803 human ensembl 69_37n +1 known missense c.2428 p.R810W 0.974 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 58 0 0.00 40 12 22.64 - - - SLC26A4 0 genome.wustl.edu 37 7 107355875 107355875 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 7 107355875 107355875 G A SNP SLC26A4 ENST00000265715 human ensembl 69_37n +1 known missense c.2327 p.R776H 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 70 0 0.00 42 18 30.00 - - - SLMAP 0 genome.wustl.edu 37 3 57846447 57846447 + Nonsense_Mutation SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 3 57846447 57846447 C T SNP SLMAP ENST00000428312 human ensembl 69_37n +1 known nonsense c.709 p.R237* 1.000 NULL pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 15 0 0.00 5 13 72.22 - - - SMG6 0 genome.wustl.edu 37 17 2202914 2202914 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 2202914 2202914 G A SNP SMG6 ENST00000263073 human ensembl 69_37n -1 known missense c.1133 p.P378L 0.008 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 41 0 0.00 42 31 42.47 - - - SMG6 0 genome.wustl.edu 37 17 2202915 2202915 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 2202915 2202915 G T SNP SMG6 ENST00000263073 human ensembl 69_37n -1 known missense c.1132 p.P378T 0.004 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 41 0 0.00 42 31 42.47 - - - SMG6 0 genome.wustl.edu 37 17 2203052 2203052 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 2203052 2203052 G A SNP SMG6 ENST00000263073 human ensembl 69_37n -1 known missense c.995 p.S332F 0.608 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 95 0 0.00 54 53 49.53 - - - SMG6 0 genome.wustl.edu 37 17 2203543 2203543 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 2203543 2203543 G A SNP SMG6 ENST00000263073 human ensembl 69_37n -1 known silent c.504 p.V168 0.020 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC ENSG00000070366 84 0 0.00 52 63 54.31 - - - STAG1 0 genome.wustl.edu 37 3 136221598 136221598 + Missense_Mutation SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 3 136221598 136221598 C G SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known missense c.700 p.V234L 1.000 pfam_STAG,superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 40 0 0.00 38 10 20.83 - - - STX11 0 genome.wustl.edu 37 6 144508475 144508475 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 6 144508475 144508475 G A SNP STX11 ENST00000367568 human ensembl 69_37n +1 known silent c.711 p.K237 1.000 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 57 0 0.00 48 11 18.64 - - - TECRL 0 genome.wustl.edu 37 4 65274933 65274933 + Missense_Mutation SNP A A G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 4 65274933 65274933 A G SNP TECRL ENST00000381210 human ensembl 69_37n -1 known missense c.137 p.L46P 0.976 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 56 0 0.00 33 11 25.00 - - - THSD4 0 genome.wustl.edu 37 15 72057488 72057488 + Missense_Mutation SNP T T A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 15 72057488 72057488 T A SNP THSD4 ENST00000261862 human ensembl 69_37n +1 known missense c.2719 p.C907S 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 89 0 0.00 55 8 12.70 - - - THSD7A 0 genome.wustl.edu 37 7 11676273 11676273 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 7 11676273 11676273 G A SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known missense c.506 p.A169V 0.992 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 32 0 0.00 26 12 31.58 - - - TLE1 0 genome.wustl.edu 37 9 84202721 84202721 + Missense_Mutation SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 9 84202721 84202721 C G SNP TLE1 ENST00000376499 human ensembl 69_37n -1 known missense c.1852 p.G618R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 48 0 0.00 27 10 27.03 - - - TLR8 0 genome.wustl.edu 37 X 12939277 12939277 + Missense_Mutation SNP C C A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 X 12939277 12939277 C A SNP TLR8 ENST00000218032 human ensembl 69_37n +1 known missense c.2118 p.S706R 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 23 0 0.00 15 7 31.82 - - - TRANK1 0 genome.wustl.edu 37 3 36872500 36872500 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 3 36872500 36872500 G A SNP TRANK1 ENST00000429976 human ensembl 69_37n -1 known silent c.8442 p.D2814 0.971 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 39 0 0.00 27 7 20.59 - - - TRMT1 0 genome.wustl.edu 37 19 13216335 13216335 + Missense_Mutation SNP C C A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 13216335 13216335 C A SNP TRMT1 ENST00000357720 human ensembl 69_37n -1 known missense c.1669 p.A557S 1.000 NULL pfam_tRNA_MeTrfase_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_tRNA_MeTrfase_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 36 0 0.00 22 20 47.62 - - - TSHZ3 0 genome.wustl.edu 37 19 31769718 31769718 + Missense_Mutation SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 31769718 31769718 C G SNP TSHZ3 ENST00000240587 human ensembl 69_37n -1 known missense c.981 p.E327D 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 70 0 0.00 43 5 10.42 - - - TTC40 0 genome.wustl.edu 37 10 134733643 134733643 + Silent SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 10 134733643 134733643 C T SNP TTC40 ENST00000368582 human ensembl 69_37n -1 known silent c.1650 p.A550 0.011 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 94 0 0.00 48 13 21.31 - - - TXNIP 0 genome.wustl.edu 37 1 145441247 145441247 + RNA SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 1 145441247 145441247 C G SNP TXNIP ENST00000475171 human ensembl 69_37n +1 known rna NULL NULL 0.035 - - - no_errors TXNIP HGNC ENSG00000117289 83 0 0.00 60 10 14.29 - - - USP32 0 genome.wustl.edu 37 17 58258807 58258807 + Missense_Mutation SNP G G C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 58258807 58258807 G C SNP USP32 ENST00000300896 human ensembl 69_37n -1 known missense c.4426 p.H1476D 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 140 0 0.00 177 32 15.31 - - - USP32P1 0 genome.wustl.edu 37 17 16706676 16706676 + RNA SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 17 16706676 16706676 C G SNP USP32P1 ENST00000341745 human ensembl 69_37n +1 known rna NULL NULL 0.557 - - - no_errors USP32P1 HGNC ENSG00000188933 138 0 0.00 73 26 26.26 - - - VWF 0 genome.wustl.edu 37 12 6134806 6134806 + Silent SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 12 6134806 6134806 C T SNP VWF ENST00000261405 human ensembl 69_37n -1 known silent c.3162 p.T1054 0.587 pirsf_VWF,smart_Unchr_dom_Cys-rich pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 58 0 0.00 65 11 14.47 - - - WDR83OS 0 genome.wustl.edu 37 19 12779224 12779224 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 12779224 12779224 G A SNP WDR83OS ENST00000222190 human ensembl 69_37n -1 known silent c.270 p.A90 0.355 pfam_UPF0139 pfam_UPF0139 - no_errors WDR83OS HGNC ENSG00000105583 89 0 0.00 49 11 18.33 - - - WDR91 0 genome.wustl.edu 37 7 134871826 134871826 + Missense_Mutation SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 7 134871826 134871826 G A SNP WDR91 ENST00000344400 human ensembl 69_37n -1 known missense c.1864 p.R622W 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 46 0 0.00 30 5 14.29 - - - WDR96 0 genome.wustl.edu 37 10 105932288 105932288 + Silent SNP C C T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 10 105932288 105932288 C T SNP WDR96 ENST00000357060 human ensembl 69_37n -1 known silent c.2466 p.L822 0.000 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 74 0 0.00 65 14 17.72 - - - XKR9 0 genome.wustl.edu 37 8 71619175 71619175 + Missense_Mutation SNP T T C TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 8 71619175 71619175 T C SNP XKR9 ENST00000408926 human ensembl 69_37n +1 known missense c.280 p.F94L 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 74 0 0.00 90 19 17.43 - - - XPA 0 genome.wustl.edu 37 9 100437634 100437634 + RNA DEL T T - TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 9 100437634 100437634 T - DEL XPA ENST00000485042 human ensembl 69_37n -1 known rna NULL NULL 0.004 - - - no_errors XPA HGNC ENSG00000136936 13 0 0.00 15 3 16.67 - - - ZCCHC3 0 genome.wustl.edu 37 20 279371 279371 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 20 279371 279371 G T SNP ZCCHC3 ENST00000382352 human ensembl 69_37n +1 known missense c.1144 p.A382S 1.000 pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC3 HGNC ENSG00000177764 24 0 0.00 32 4 11.11 - - - ZDHHC5 0 genome.wustl.edu 37 11 57467477 57467477 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 11 57467477 57467477 G T SNP ZDHHC5 ENST00000287169 human ensembl 69_37n +1 known missense c.2122 p.G708C 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 74 0 0.00 32 10 23.81 - - - ZFP82 0 genome.wustl.edu 37 19 36884213 36884213 + Silent SNP G G A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 36884213 36884213 G A SNP ZFP82 ENST00000392161 human ensembl 69_37n -1 known silent c.1029 p.C343 1.000 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 ZFP82 HGNC ENSG00000181007 57 0 0.00 49 9 15.52 - - - ZNF160 0 genome.wustl.edu 37 19 53571593 53571593 + Missense_Mutation SNP G G T TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 53571593 53571593 G T SNP ZNF160 ENST00000418871 human ensembl 69_37n -1 known missense c.2194 p.P732T 0.824 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 ZNF160 HGNC ENSG00000170949 67 0 0.00 65 22 25.29 - - - ZNF676 0 genome.wustl.edu 37 19 22363736 22363736 + Silent SNP T T A TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 22363736 22363736 T A SNP ZNF676 ENST00000397121 human ensembl 69_37n -1 known silent c.783 p.G261 0.028 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 34 0 0.00 34 4 10.53 - - - ZNF676 0 genome.wustl.edu 37 19 22363737 22363737 + Missense_Mutation SNP C C G TCGA-OL-A5RZ-01A-11D-A28B-09 TCGA-OL-A5RZ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx baa7b066-2bc9-4bfe-9a76-5ba80f843b94 ba54e456-4cfc-4425-8d0c-615fc01715e1 19 22363737 22363737 C G SNP ZNF676 ENST00000397121 human ensembl 69_37n -1 known missense c.782 p.G261A 0.018 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 34 0 0.00 34 4 10.53 - - -