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 ABCB5 0 genome.wustl.edu 37 7 20685389 20685389 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 20685389 20685389 C T SNP ABCB5 ENST00000404938 human ensembl 69_37n +1 putative missense c.689 p.S230L 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ENSG00000004846 45 0 0.00 42 10 19.23 - - - ABCF2 0 genome.wustl.edu 37 7 150923404 150923404 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 150923404 150923404 G A SNP ABCF2 ENST00000222388 human ensembl 69_37n -1 known silent c.141 p.G47 0.241 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 139 0 0.00 138 30 17.86 - - - ACACB 0 genome.wustl.edu 37 12 109671748 109671748 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 109671748 109671748 C T SNP ACACB ENST00000538526 human ensembl 69_37n +1 known nonsense c.244 p.Q82* 0.002 pfam_AcCoA_COase_cen pfam_Carboxyl_trans,pfam_AcCoA_COase_cen,pfscan_COA_CT_N,pfscan_COA_CT_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ACACB HGNC ENSG00000076555 52 0 0.00 43 10 18.87 - - - ADAM28 0 genome.wustl.edu 37 8 24187543 24187543 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 24187543 24187543 G C SNP ADAM28 ENST00000265769 human ensembl 69_37n +1 known missense c.1018 p.E340Q 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 47 0 0.00 61 14 18.42 - - - ADH5 0 genome.wustl.edu 37 4 99997568 99997568 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 99997568 99997568 C T SNP ADH5 ENST00000296412 human ensembl 69_37n -1 known missense c.700 p.E234K 0.998 pfam_ADH_C,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 50 0 0.00 55 8 12.70 - - - AFF2 0 genome.wustl.edu 37 X 148037888 148037888 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 148037888 148037888 C T SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known silent c.2313 p.I771 0.341 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 70 0 0.00 49 12 19.67 - - - AGFG1 0 genome.wustl.edu 37 2 228401659 228401659 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 228401659 228401659 C T SNP AGFG1 ENST00000409979 human ensembl 69_37n +1 known missense c.1400 p.S467F 1.000 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG1 HGNC ENSG00000173744 99 0 0.00 60 17 21.79 - - - AHCTF1 0 genome.wustl.edu 37 1 247031055 247031055 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 247031055 247031055 C T SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known silent c.3174 p.L1058 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 104 1 0.95 85 22 20.56 - - - AIFM1 0 genome.wustl.edu 37 X 129290551 129290551 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 129290551 129290551 G C SNP AIFM1 ENST00000287295 human ensembl 69_37n -1 known missense c.133 p.P45A 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase - no_errors AIFM1 HGNC ENSG00000156709 46 0 0.00 52 11 17.46 - - - ALDH1L2 0 genome.wustl.edu 37 12 105464405 105464405 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 105464405 105464405 G C SNP ALDH1L2 ENST00000258494 human ensembl 69_37n -1 known missense c.371 p.S124C 1.000 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 75 0 0.00 59 13 18.06 - - - ALG10 0 genome.wustl.edu 37 12 34175615 34175615 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 34175615 34175615 C T SNP ALG10 ENST00000266483 human ensembl 69_37n +1 known silent c.81 p.F27 1.000 pirsf_Alpha1_2_glucosyltferase_Alg10 pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10 - no_errors ALG10 HGNC ENSG00000139133 64 0 0.00 62 16 20.51 - - - ANKAR 0 genome.wustl.edu 37 2 190606108 190606108 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 190606108 190606108 C T SNP ANKAR ENST00000313581 human ensembl 69_37n +1 known silent c.3741 p.I1247 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 29 0 0.00 40 8 16.67 - - - ANKRD18A 0 genome.wustl.edu 37 9 38596034 38596034 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 38596034 38596034 C T SNP ANKRD18A ENST00000399703 human ensembl 69_37n -1 known missense c.1303 p.E435K 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18A HGNC ENSG00000180071 139 0 0.00 110 21 16.03 - - - ANXA10 0 genome.wustl.edu 37 4 169083772 169083772 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 169083772 169083772 G A SNP ANXA10 ENST00000359299 human ensembl 69_37n +1 known missense c.289 p.E97K 1.000 pfam_Annexin_repeat,superfamily_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 70 0 0.00 57 9 13.64 - - - AP1B1 0 genome.wustl.edu 37 22 29727487 29727487 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 29727487 29727487 G A SNP AP1B1 ENST00000357586 human ensembl 69_37n -1 known silent c.2475 p.F825 1.000 superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu - no_errors AP1B1 HGNC ENSG00000100280 54 0 0.00 52 10 16.13 - - - AP3M1 0 genome.wustl.edu 37 10 75898029 75898029 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 75898029 75898029 C G SNP AP3M1 ENST00000355264 human ensembl 69_37n -1 known missense c.109 p.E37Q 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu 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 AP3M1 HGNC ENSG00000185009 54 0 0.00 47 11 18.97 - - - APLNR 0 genome.wustl.edu 37 11 57004167 57004167 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 57004167 57004167 G C SNP APLNR ENST00000257254 human ensembl 69_37n -1 known silent c.312 p.L104 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,prints_APJ_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors APLNR HGNC ENSG00000134817 20 0 0.00 11 6 35.29 - - - AR 0 genome.wustl.edu 37 X 66931473 66931473 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 66931473 66931473 C T SNP AR ENST00000374690 human ensembl 69_37n +1 known silent c.2115 p.L705 0.999 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 59 0 0.00 44 8 15.38 - - - ARF1 0 genome.wustl.edu 37 1 228284917 228284917 + Silent SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 228284917 228284917 C G SNP ARF1 ENST00000272102 human ensembl 69_37n +1 known silent c.102 p.L34 0.994 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF1 HGNC ENSG00000143761 30 0 0.00 34 5 12.82 - - - ARHGEF11 0 genome.wustl.edu 37 1 156946799 156946799 + Silent SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 156946799 156946799 C G SNP ARHGEF11 ENST00000368194 human ensembl 69_37n -1 known silent c.558 p.L186 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 71 0 0.00 70 10 12.50 - - - ARHGEF12 0 genome.wustl.edu 37 11 120312872 120312872 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 120312872 120312872 C G SNP ARHGEF12 ENST00000356641 human ensembl 69_37n +1 known missense c.1206 p.I402M 1.000 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 101 0 0.00 80 29 26.61 - - - ARHGEF18 0 genome.wustl.edu 37 19 7511959 7511959 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 7511959 7511959 G C SNP ARHGEF18 ENST00000359920 human ensembl 69_37n +1 known missense c.1078 p.E360Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 78 0 0.00 53 13 19.70 - - - ARIH1 0 genome.wustl.edu 37 15 72874491 72874491 + Missense_Mutation SNP C C A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 72874491 72874491 C A SNP ARIH1 ENST00000379887 human ensembl 69_37n +1 known missense c.1552 p.L518M 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH1 HGNC ENSG00000166233 76 0 0.00 42 11 20.75 - - - ARL5B 0 genome.wustl.edu 37 10 18962960 18962960 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 18962960 18962960 G A SNP ARL5B ENST00000377275 human ensembl 69_37n +1 known missense c.387 p.M129I 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5B HGNC ENSG00000165997 56 0 0.00 46 14 23.33 - - - ARMCX3 0 genome.wustl.edu 37 X 100880812 100880812 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 100880812 100880812 C T SNP ARMCX3 ENST00000341189 human ensembl 69_37n +1 known silent c.843 p.L281 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX3 HGNC ENSG00000102401 27 0 0.00 16 4 20.00 - - - ASAP1 0 genome.wustl.edu 37 8 131179788 131179788 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 131179788 131179788 C T SNP ASAP1 ENST00000524124 human ensembl 69_37n -1 novel missense c.355 p.E119K 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ASAP1 HGNC ENSG00000153317 87 0 0.00 80 16 16.67 - - - ASGR2 0 genome.wustl.edu 37 17 7017544 7017544 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 7017544 7017544 G C SNP ASGR2 ENST00000355035 human ensembl 69_37n -1 known missense c.16 p.Q6E 0.951 NULL pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors ASGR2 HGNC ENSG00000161944 99 0 0.00 57 12 17.39 - - - ATAD1 0 genome.wustl.edu 37 10 89574223 89574223 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 89574223 89574223 C T SNP ATAD1 ENST00000308448 human ensembl 69_37n -1 known missense c.134 p.R45K 1.000 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors ATAD1 HGNC ENSG00000138138 82 0 0.00 91 40 30.30 - - - ATG7 0 genome.wustl.edu 37 3 11354835 11354835 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 11354835 11354835 G A SNP ATG7 ENST00000354449 human ensembl 69_37n +1 known missense c.469 p.E157K 1.000 tigrfam_E1-like_Apg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_E1-like_Apg7 - no_errors ATG7 HGNC ENSG00000197548 110 0 0.00 82 18 18.00 - - - ATP11A 0 genome.wustl.edu 37 13 113532584 113532584 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 13 113532584 113532584 G A SNP ATP11A ENST00000283558 human ensembl 69_37n +1 known silent c.3381 p.Q1127 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11A HGNC ENSG00000068650 68 0 0.00 57 10 14.93 - - - ATP2B4 0 genome.wustl.edu 37 1 203702398 203702398 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 203702398 203702398 C T SNP ATP2B4 ENST00000356729 human ensembl 69_37n +1 known missense c.251 p.S84F 1.000 pfam_ATP_Ca_trans_C pfam_ATP_Ca_trans_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP2B4 HGNC ENSG00000058668 58 0 0.00 92 12 11.54 - - - AURKB 0 genome.wustl.edu 37 17 8110613 8110613 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 8110613 8110613 C T SNP AURKB ENST00000584972 human ensembl 69_37n -1 novel missense c.73 p.G25S 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AURKB HGNC ENSG00000178999 59 0 0.00 35 4 10.26 - - - AWAT2 0 genome.wustl.edu 37 X 69261801 69261801 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 69261801 69261801 G A SNP AWAT2 ENST00000276101 human ensembl 69_37n -1 known silent c.859 p.L287 0.965 pfam_DAGAT pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 60 0 0.00 59 14 19.18 - - - BCL2L11 0 genome.wustl.edu 37 2 111881473 111881473 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 111881473 111881473 G A SNP BCL2L11 ENST00000393256 human ensembl 69_37n +1 known missense c.151 p.E51K 1.000 pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 36 0 0.00 14 6 30.00 - - - BIVM 0 genome.wustl.edu 37 13 103468896 103468896 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 13 103468896 103468896 C T SNP BIVM ENST00000257336 human ensembl 69_37n +1 known silent c.597 p.L199 1.000 NULL NULL - no_errors BIVM HGNC ENSG00000134897 64 0 0.00 38 12 24.00 - - - BPTF 0 genome.wustl.edu 37 17 65936663 65936663 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 65936663 65936663 C T SNP BPTF ENST00000321892 human ensembl 69_37n +1 known missense c.6746 p.S2249L 0.080 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 43 0 0.00 47 11 18.64 - - - C12orf44 0 genome.wustl.edu 37 12 52467635 52467635 + Silent SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 52467635 52467635 C G SNP C12orf44 ENST00000336854 human ensembl 69_37n +1 known silent c.201 p.V67 1.000 pfam_ATG101 pfam_ATG101 - no_errors C12orf44 HGNC ENSG00000123395 121 0 0.00 68 12 15.00 - - - C12orf5 0 genome.wustl.edu 37 12 4440468 4440468 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 4440468 4440468 G C SNP C12orf5 ENST00000179259 human ensembl 69_37n +1 known missense c.55 p.E19Q 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 145 0 0.00 126 27 17.65 - - - C1orf112 0 genome.wustl.edu 37 1 169796247 169796247 + Missense_Mutation SNP A A G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 169796247 169796247 A G SNP C1orf112 ENST00000286031 human ensembl 69_37n +1 known missense c.904 p.I302V 1.000 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 81 0 0.00 88 12 12.00 - - - C1orf68 0 genome.wustl.edu 37 1 152692165 152692165 + Silent SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 152692165 152692165 G T SNP C1orf68 ENST00000362017 human ensembl 69_37n +1 known silent c.168 p.V56 0.969 NULL NULL - no_errors C1orf68 HGNC ENSG00000198854 69 0 0.00 62 19 23.46 - - - C2orf16 0 genome.wustl.edu 37 2 27800937 27800937 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 27800937 27800937 G C SNP C2orf16 ENST00000408964 human ensembl 69_37n +1 known missense c.1498 p.E500Q 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 54 0 0.00 29 6 17.14 - - - C4orf33 0 genome.wustl.edu 37 4 130023848 130023848 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 130023848 130023848 G A SNP C4orf33 ENST00000281146 human ensembl 69_37n +1 known missense c.83 p.R28K 0.001 NULL NULL - no_errors C4orf33 HGNC ENSG00000151470 72 0 0.00 68 14 17.07 - - - C7orf31 0 genome.wustl.edu 37 7 25218893 25218893 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 25218893 25218893 C G SNP C7orf31 ENST00000283905 human ensembl 69_37n -1 known missense c.35 p.R12T 0.931 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 57 0 0.00 57 14 19.72 - - - C9 0 genome.wustl.edu 37 5 39306855 39306855 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 39306855 39306855 G A SNP C9 ENST00000263408 human ensembl 69_37n -1 known missense c.1280 p.S427L 0.474 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C9 HGNC ENSG00000113600 52 0 0.00 48 11 18.64 - - - C9orf41 0 genome.wustl.edu 37 9 77599900 77599900 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 77599900 77599900 G C SNP C9orf41 ENST00000376834 human ensembl 69_37n -1 known missense c.1051 p.L351V 0.998 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 101 0 0.00 57 9 13.64 - - - CACNA1D 0 genome.wustl.edu 37 3 53810705 53810705 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 53810705 53810705 C T SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.4498 p.H1500Y 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 78 0 0.00 65 13 16.67 - - - CAPN12 0 genome.wustl.edu 37 19 39225014 39225014 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 39225014 39225014 G C SNP CAPN12 ENST00000328867 human ensembl 69_37n -1 known missense c.1760 p.S587C 0.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC ENSG00000182472 30 0 0.00 13 7 35.00 - - - CAPN8 0 genome.wustl.edu 37 1 223717448 223717448 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 223717448 223717448 G C SNP CAPN8 ENST00000366872 human ensembl 69_37n -1 known missense c.1944 p.I648M 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 40 0 0.00 42 5 10.64 - - - CASC1 0 genome.wustl.edu 37 12 25314105 25314105 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 25314105 25314105 G C SNP CASC1 ENST00000395987 human ensembl 69_37n -1 known silent c.48 p.T16 0.964 NULL pfam_Casc1_domain,prints_Casc1 - no_errors CASC1 HGNC ENSG00000118307 137 0 0.00 124 33 21.02 - - - CAST 0 genome.wustl.edu 37 5 96090380 96090380 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 96090380 96090380 G C SNP CAST ENST00000395813 human ensembl 69_37n +1 known missense c.1645 p.D549H 0.877 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_errors CAST HGNC ENSG00000153113 82 0 0.00 71 11 13.41 - - - CCDC146 0 genome.wustl.edu 37 7 76903798 76903798 + Splice_Site SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 76903798 76903798 G A SNP CCDC146 ENST00000285871 human ensembl 69_37n +1 known splice_site c.1270-1 e10-1 1.000 - - - no_errors CCDC146 HGNC ENSG00000135205 22 0 0.00 24 6 20.00 - - - CCDC157 0 genome.wustl.edu 37 22 30768209 30768209 + Silent SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 30768209 30768209 C G SNP CCDC157 ENST00000338306 human ensembl 69_37n +1 known silent c.1269 p.V423 0.984 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC157 HGNC ENSG00000187860 23 0 0.00 15 9 37.50 - - - CCDC173 0 genome.wustl.edu 37 2 170518927 170518927 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 170518927 170518927 C T SNP CCDC173 ENST00000447353 human ensembl 69_37n -1 known missense c.682 p.E228K 0.929 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 94 0 0.00 99 15 13.16 - - - CCL23 0 genome.wustl.edu 37 17 34340801 34340801 + Nonsense_Mutation SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 34340801 34340801 G T SNP CCL23 ENST00000293280 human ensembl 69_37n -1 known nonsense c.285 p.C95* 0.053 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL23 HGNC ENSG00000167236 65 0 0.00 51 12 19.05 - - - CCT8 0 genome.wustl.edu 37 21 30428810 30428810 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 21 30428810 30428810 C G SNP CCT8 ENST00000286788 human ensembl 69_37n -1 known missense c.1633 p.D545H 1.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta - no_errors CCT8 HGNC ENSG00000156261 67 0 0.00 47 6 10.91 - - - CD22 0 genome.wustl.edu 37 19 35827138 35827138 + Silent SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 35827138 35827138 C G SNP CD22 ENST00000085219 human ensembl 69_37n +1 known silent c.612 p.L204 0.769 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD22 HGNC ENSG00000012124 47 0 0.00 48 9 15.79 - - - CD8B 0 genome.wustl.edu 37 2 87049465 87049465 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 87049465 87049465 C G SNP CD8B ENST00000393759 human ensembl 69_37n -1 known missense c.653 p.R218T 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8B HGNC ENSG00000172116 61 0 0.00 76 12 13.64 - - - CDC16 0 genome.wustl.edu 37 13 115002150 115002150 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 13 115002150 115002150 G C SNP CDC16 ENST00000356221 human ensembl 69_37n +1 known missense c.79 p.D27H 1.000 NULL pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC16 HGNC ENSG00000130177 71 0 0.00 42 7 14.29 - - - CDH1 0 genome.wustl.edu 37 16 68863661 68863661 + Frame_Shift_Del DEL C C - TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 68863661 68863661 C - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.2400 p.P801fs 0.975 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 32 0 0.00 28 4 12.50 - - - CDH17 0 genome.wustl.edu 37 8 95189831 95189831 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 95189831 95189831 G C SNP CDH17 ENST00000027335 human ensembl 69_37n -1 known missense c.269 p.S90C 0.218 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH17 HGNC ENSG00000079112 103 0 0.00 70 14 16.67 - - - CDH5 0 genome.wustl.edu 37 16 66424332 66424332 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 66424332 66424332 G C SNP CDH5 ENST00000341529 human ensembl 69_37n +1 known missense c.808 p.D270H 0.970 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 59 0 0.00 33 9 21.43 - - - CDHR4 0 genome.wustl.edu 37 3 49834418 49834418 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 49834418 49834418 G C SNP CDHR4 ENST00000412678 human ensembl 69_37n -1 known missense c.543 p.F181L 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 60 0 0.00 27 6 18.18 - - - CELSR3 0 genome.wustl.edu 37 3 48696405 48696405 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 48696405 48696405 G A SNP CELSR3 ENST00000544264 human ensembl 69_37n -1 known silent c.3663 p.V1221 1.000 superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 60 0 0.00 38 7 15.56 - - - CEP170 0 genome.wustl.edu 37 1 243289797 243289797 + Splice_Site SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 243289797 243289797 C G SNP CEP170 ENST00000466495 human ensembl 69_37n -1 known splice_site c.NULL NULL 1.000 - - - no_errors CEP170 HGNC ENSG00000143702 42 0 0.00 35 7 16.67 - - - CERK 0 genome.wustl.edu 37 22 47116889 47116889 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 47116889 47116889 C G SNP CERK ENST00000216264 human ensembl 69_37n -1 known missense c.166 p.E56Q 0.986 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 52 0 0.00 62 7 10.14 - - - CFTR 0 genome.wustl.edu 37 7 117171132 117171132 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 117171132 117171132 G C SNP CFTR ENST00000003084 human ensembl 69_37n +1 known missense c.453 p.Q151H 0.993 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_cAMP_cl_channel 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,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 46 0 0.00 59 14 19.18 - - - CHAMP1 0 genome.wustl.edu 37 13 115089366 115089366 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 13 115089366 115089366 G C SNP CHAMP1 ENST00000361283 human ensembl 69_37n +1 known missense c.49 p.D17H 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 34 0 0.00 28 4 12.50 - - - CHD2 0 genome.wustl.edu 37 15 93510679 93510679 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 93510679 93510679 C T SNP CHD2 ENST00000557381 human ensembl 69_37n +1 putative missense c.2125 p.L709F 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 46 0 0.00 26 7 21.21 - - - CHD3 0 genome.wustl.edu 37 17 7808967 7808967 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 7808967 7808967 G A SNP CHD3 ENST00000330494 human ensembl 69_37n +1 known silent c.4167 p.R1389 0.992 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 21 0 0.00 25 9 26.47 - - - CHD3 0 genome.wustl.edu 37 17 7809938 7809938 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 7809938 7809938 G A SNP CHD3 ENST00000330494 human ensembl 69_37n +1 known missense c.4426 p.D1476N 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 56 0 0.00 41 12 22.64 - - - CHD4 0 genome.wustl.edu 37 12 6690968 6690968 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 6690968 6690968 C G SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.4612 p.E1538Q 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 85 0 0.00 71 11 13.41 - - - CHRM2 0 genome.wustl.edu 37 7 136699711 136699711 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 136699711 136699711 C T SNP CHRM2 ENST00000320658 human ensembl 69_37n +1 known silent c.99 p.L33 1.000 prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 99 0 0.00 74 15 16.85 - - - CHUK 0 genome.wustl.edu 37 10 101985685 101985685 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 101985685 101985685 C T SNP CHUK ENST00000370397 human ensembl 69_37n -1 known missense c.195 p.M65I 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_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CHUK HGNC ENSG00000213341 127 0 0.00 93 16 14.68 - - - CLDN6 0 genome.wustl.edu 37 16 3065372 3065372 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 3065372 3065372 C G SNP CLDN6 ENST00000328796 human ensembl 69_37n -1 known missense c.651 p.K217N 1.000 prints_Claudin6 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 27 0 0.00 17 7 29.17 - - - CLEC18C 0 genome.wustl.edu 37 16 70208876 70208876 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 70208876 70208876 C T SNP CLEC18C ENST00000314151 human ensembl 69_37n +1 known missense c.151 p.L51F 1.000 superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_C-type_lectin,pfam_CAP_domain,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EGF-like,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18C HGNC ENSG00000157335 35 0 0.00 17 5 22.73 - - - CLK3 0 genome.wustl.edu 37 15 74922117 74922117 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 74922117 74922117 G C SNP CLK3 ENST00000395066 human ensembl 69_37n +1 known missense c.1810 p.D604H 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK3 HGNC ENSG00000179335 53 0 0.00 37 13 26.00 - - - CLSTN2 0 genome.wustl.edu 37 3 139894828 139894828 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 139894828 139894828 C T SNP CLSTN2 ENST00000458420 human ensembl 69_37n +1 known missense c.145 p.H49Y 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 61 0 0.00 69 10 12.66 - - - COA1 0 genome.wustl.edu 37 7 43684885 43684885 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 43684885 43684885 C T SNP COA1 ENST00000223336 human ensembl 69_37n -1 known missense c.229 p.D77N 0.014 NULL NULL - no_errors COA1 HGNC ENSG00000106603 41 0 0.00 50 9 15.25 - - - COL12A1 0 genome.wustl.edu 37 6 75851861 75851861 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 75851861 75851861 G A SNP COL12A1 ENST00000322507 human ensembl 69_37n -1 known missense c.4844 p.S1615L 0.667 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 90 0 0.00 59 20 25.32 - - - COL17A1 0 genome.wustl.edu 37 10 105793003 105793003 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 105793003 105793003 G A SNP COL17A1 ENST00000353479 human ensembl 69_37n -1 known silent c.4287 p.F1429 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 63 0 0.00 41 12 22.64 - - - COL17A1 0 genome.wustl.edu 37 10 105836095 105836095 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 105836095 105836095 C G SNP COL17A1 ENST00000353479 human ensembl 69_37n -1 known missense c.295 p.E99Q 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 87 0 0.00 67 13 16.25 - - - COL5A1 0 genome.wustl.edu 37 9 137650106 137650106 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 137650106 137650106 C T SNP COL5A1 ENST00000371817 human ensembl 69_37n +1 known silent c.1899 p.D633 0.837 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 79 0 0.00 45 6 11.76 - - - COPA 0 genome.wustl.edu 37 1 160279994 160279994 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 160279994 160279994 G A SNP COPA ENST00000368069 human ensembl 69_37n -1 known silent c.1131 p.V377 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPA HGNC ENSG00000122218 77 0 0.00 98 18 15.52 - - - CPSF1 0 genome.wustl.edu 37 8 145619108 145619108 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 145619108 145619108 G A SNP CPSF1 ENST00000349769 human ensembl 69_37n -1 known silent c.4005 p.I1335 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 54 0 0.00 69 8 10.39 - - - CPSF2 0 genome.wustl.edu 37 14 92608685 92608685 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 92608685 92608685 C T SNP CPSF2 ENST00000298875 human ensembl 69_37n +1 known missense c.839 p.S280F 1.000 pfam_Beta_Casp pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors CPSF2 HGNC ENSG00000165934 102 0 0.00 79 16 16.84 - - - CPSF3 0 genome.wustl.edu 37 2 9570957 9570957 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 9570957 9570957 C G SNP CPSF3 ENST00000238112 human ensembl 69_37n +1 known missense c.289 p.H97D 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3 HGNC ENSG00000119203 98 0 0.00 65 14 17.72 - - - CRLF3 0 genome.wustl.edu 37 17 29112973 29112973 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 29112973 29112973 G C SNP CRLF3 ENST00000324238 human ensembl 69_37n -1 known missense c.1036 p.L346V 0.994 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 99 0 0.00 121 35 22.44 - - - CTNND1 0 genome.wustl.edu 37 11 57569455 57569455 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 57569455 57569455 G A SNP CTNND1 ENST00000399050 human ensembl 69_37n +1 known missense c.1207 p.D403N 0.998 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 49 0 0.00 31 4 11.43 - - - CYHR1 0 genome.wustl.edu 37 8 145677767 145677767 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 145677767 145677767 G C SNP CYHR1 ENST00000438911 human ensembl 69_37n -1 known silent c.672 p.L224 1.000 NULL superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors CYHR1 HGNC ENSG00000187954 58 0 0.00 33 5 13.16 - - - CYP7B1 0 genome.wustl.edu 37 8 65528639 65528639 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 65528639 65528639 G C SNP CYP7B1 ENST00000310193 human ensembl 69_37n -1 known silent c.459 p.L153 0.049 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 36 0 0.00 21 11 34.38 - - - DCLK2 0 genome.wustl.edu 37 4 151153941 151153941 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 151153941 151153941 C T SNP DCLK2 ENST00000302176 human ensembl 69_37n +1 known silent c.1578 p.L526 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_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK2 HGNC ENSG00000170390 62 0 0.00 76 15 16.48 - - - DDX1 0 genome.wustl.edu 37 2 15758356 15758356 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 15758356 15758356 C T SNP DDX1 ENST00000233084 human ensembl 69_37n +1 known nonsense c.1168 p.Q390* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 80 0 0.00 72 15 17.24 - - - DDX4 0 genome.wustl.edu 37 5 55081583 55081583 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 55081583 55081583 C T SNP DDX4 ENST00000505374 human ensembl 69_37n +1 known missense c.748 p.P250S 0.979 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 49 0 0.00 57 8 12.31 - - - DEPDC5 0 genome.wustl.edu 37 22 32239673 32239673 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 32239673 32239673 C G SNP DEPDC5 ENST00000433147 human ensembl 69_37n +1 putative missense c.868 p.L290V 0.993 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DEPDC5 HGNC ENSG00000100150 62 0 0.00 47 13 21.67 - - - DIXDC1 0 genome.wustl.edu 37 11 111866817 111866817 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 111866817 111866817 C T SNP DIXDC1 ENST00000440460 human ensembl 69_37n +1 known missense c.1700 p.S567L 1.000 NULL pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 65 0 0.00 55 15 21.13 - - - DMRTB1 0 genome.wustl.edu 37 1 53930486 53930486 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 53930486 53930486 G A SNP DMRTB1 ENST00000371445 human ensembl 69_37n +1 known silent c.927 p.L309 0.471 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 65 0 0.00 55 7 11.29 - - - DNAH11 0 genome.wustl.edu 37 7 21818683 21818683 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 21818683 21818683 G A SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known silent c.9465 p.V3155 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 68 0 0.00 31 7 18.42 - - - DNAH17 0 genome.wustl.edu 37 17 76459075 76459075 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 76459075 76459075 C T SNP DNAH17 ENST00000389840 human ensembl 69_37n -1 known missense c.8983 p.E2995K 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 109 0 0.00 58 16 21.62 - - - DNAI1 0 genome.wustl.edu 37 9 34493197 34493197 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 34493197 34493197 G A SNP DNAI1 ENST00000242317 human ensembl 69_37n +1 known silent c.687 p.E229 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 36 0 0.00 30 7 18.92 - - - DPP4 0 genome.wustl.edu 37 2 162873352 162873352 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 162873352 162873352 G A SNP DPP4 ENST00000360534 human ensembl 69_37n -1 known missense c.1493 p.S498L 0.999 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 74 0 0.00 52 17 24.64 - - - DSG2 0 genome.wustl.edu 37 18 29122609 29122609 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 18 29122609 29122609 G C SNP DSG2 ENST00000261590 human ensembl 69_37n +1 known missense c.2128 p.E710Q 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG2 HGNC ENSG00000046604 76 0 0.00 36 5 12.20 - - - DSP 0 genome.wustl.edu 37 6 7579712 7579712 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 7579712 7579712 C G SNP DSP ENST00000379802 human ensembl 69_37n +1 known missense c.3289 p.L1097V 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 46 0 0.00 31 5 13.89 - - - EBF2 0 genome.wustl.edu 37 8 25718703 25718703 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 25718703 25718703 G C SNP EBF2 ENST00000520164 human ensembl 69_37n -1 known missense c.1204 p.L402V 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF2 HGNC ENSG00000221818 89 0 0.00 70 9 11.25 - - - EFCAB6 0 genome.wustl.edu 37 22 44079664 44079664 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 44079664 44079664 G C SNP EFCAB6 ENST00000262726 human ensembl 69_37n -1 known missense c.1214 p.S405C 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 126 0 0.00 132 18 12.00 - - - EIF1AX 0 genome.wustl.edu 37 X 20150342 20150342 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 20150342 20150342 C T SNP EIF1AX ENST00000379607 human ensembl 69_37n -1 known missense c.295 p.E99K 1.000 superfamily_NA-bd_OB-fold-like,smart_TIF_eIF-1A,tigrfam_TIF_eIF-1A pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold-like,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A - no_errors EIF1AX HGNC ENSG00000173674 53 0 0.00 61 10 14.08 - - - EIF2B4 0 genome.wustl.edu 37 2 27592329 27592329 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 27592329 27592329 C G SNP EIF2B4 ENST00000347454 human ensembl 69_37n -1 known missense c.163 p.G55R 0.947 NULL pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 122 0 0.00 105 22 17.32 - - - EIF2C1 0 genome.wustl.edu 37 1 36372627 36372627 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 36372627 36372627 G C SNP EIF2C1 ENST00000373204 human ensembl 69_37n +1 known missense c.1489 p.D497H 1.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C1 HGNC ENSG00000092847 61 0 0.00 35 10 22.22 - - - ELF1 0 genome.wustl.edu 37 13 41517154 41517154 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 13 41517154 41517154 G A SNP ELF1 ENST00000239882 human ensembl 69_37n -1 known missense c.740 p.S247F 1.000 pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets pfam_TF_Elf_N,pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF1 HGNC ENSG00000120690 56 0 0.00 48 11 18.64 - - - ENDOU 0 genome.wustl.edu 37 12 48119180 48119180 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 48119180 48119180 G A SNP ENDOU ENST00000229003 human ensembl 69_37n -1 known missense c.17 p.S6F 0.034 NULL pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENSG00000111405 69 0 0.00 55 9 14.06 - - - EPG5 0 genome.wustl.edu 37 18 43490681 43490681 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 18 43490681 43490681 C T SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known missense c.4010 p.R1337K 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 30 0 0.00 24 8 25.00 - - - EPHB1 0 genome.wustl.edu 37 3 134851668 134851668 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 134851668 134851668 C T SNP EPHB1 ENST00000398015 human ensembl 69_37n +1 known silent c.1074 p.I358 0.999 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB1 HGNC ENSG00000154928 27 0 0.00 21 7 25.00 - - - EVC2 0 genome.wustl.edu 37 4 5642323 5642323 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 5642323 5642323 C G SNP EVC2 ENST00000344408 human ensembl 69_37n -1 known missense c.1388 p.R463T 0.994 pfam_EVC2-like pfam_EVC2-like - no_errors EVC2 HGNC ENSG00000173040 88 0 0.00 120 27 18.37 - - - F8 0 genome.wustl.edu 37 X 154065914 154065914 + Silent SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 154065914 154065914 C G SNP F8 ENST00000360256 human ensembl 69_37n -1 known silent c.7014 p.L2338 1.000 pfam_Coagulation_fac_5/8-C_type_dom,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,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 67 0 0.00 37 13 26.00 - - - FADS1 0 genome.wustl.edu 37 11 61578478 61578478 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 61578478 61578478 G C SNP FADS1 ENST00000350997 human ensembl 69_37n -1 known missense c.754 p.L252V 0.858 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5,prints_Cyt_B5 - no_errors FADS1 HGNC ENSG00000149485 37 0 0.00 29 10 25.64 - - - FAM13B 0 genome.wustl.edu 37 5 137342812 137342812 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 137342812 137342812 C G SNP FAM13B ENST00000033079 human ensembl 69_37n -1 known missense c.715 p.E239Q 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 98 0 0.00 116 17 12.78 - - - FAM13C 0 genome.wustl.edu 37 10 61029684 61029684 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 61029684 61029684 G A SNP FAM13C ENST00000373868 human ensembl 69_37n -1 known missense c.778 p.P260S 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 62 0 0.00 50 8 13.79 - - - FAM178A 0 genome.wustl.edu 37 10 102676867 102676867 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 102676867 102676867 C T SNP FAM178A ENST00000370269 human ensembl 69_37n +1 known missense c.725 p.S242F 0.996 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 33 0 0.00 19 5 20.83 - - - FAM26E 0 genome.wustl.edu 37 6 116832997 116832997 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 116832997 116832997 G C SNP FAM26E ENST00000368599 human ensembl 69_37n +1 known missense c.138 p.E46D 1.000 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 52 0 0.00 73 9 10.98 - - - FAT2 0 genome.wustl.edu 37 5 150945893 150945893 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 150945893 150945893 G A SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.2600 p.S867F 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 45 0 0.00 60 8 11.76 - - - FAT2 0 genome.wustl.edu 37 5 150946822 150946822 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 150946822 150946822 C G SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.1671 p.L557F 0.992 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 25 0 0.00 17 5 22.73 - - - FBXO22 0 genome.wustl.edu 37 15 76225245 76225245 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 76225245 76225245 G C SNP FBXO22 ENST00000308275 human ensembl 69_37n +1 known silent c.1014 p.G338 0.003 pfam_FIST_C_domain pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO22 HGNC ENSG00000167196 191 0 0.00 120 28 18.92 - - - FBXO33 0 genome.wustl.edu 37 14 39870578 39870578 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 39870578 39870578 C T SNP FBXO33 ENST00000298097 human ensembl 69_37n -1 known missense c.1198 p.D400N 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO33 HGNC ENSG00000165355 92 0 0.00 39 13 25.00 - - - FBXW7 0 genome.wustl.edu 37 4 153250865 153250865 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 153250865 153250865 C G SNP FBXW7 ENST00000281708 human ensembl 69_37n -1 known missense c.1195 p.D399H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 60 0 0.00 45 11 19.64 - - - FCGBP 0 genome.wustl.edu 37 19 40366143 40366143 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 40366143 40366143 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.14091 p.D4697 0.988 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 29 0 0.00 13 7 35.00 - - - FGF17 0 genome.wustl.edu 37 8 21903693 21903693 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 21903693 21903693 G C SNP FGF17 ENST00000359441 human ensembl 69_37n +1 known silent c.141 p.L47 1.000 superfamily_Cytokine_IL1-like pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF17 HGNC ENSG00000158815 21 0 0.00 22 5 18.52 - - - FGF5 0 genome.wustl.edu 37 4 81196118 81196118 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 81196118 81196118 C T SNP FGF5 ENST00000312465 human ensembl 69_37n +1 known silent c.411 p.F137 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF5 HGNC ENSG00000138675 97 0 0.00 92 12 11.54 - - - FIBCD1 0 genome.wustl.edu 37 9 133779645 133779645 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 133779645 133779645 C G SNP FIBCD1 ENST00000372338 human ensembl 69_37n -1 known missense c.1192 p.E398Q 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FIBCD1 HGNC ENSG00000130720 43 0 0.00 21 11 34.38 - - - FIBP 0 genome.wustl.edu 37 11 65651446 65651446 + Nonstop_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 65651446 65651446 C G SNP FIBP ENST00000338369 human ensembl 69_37n -1 known nonstop c.1094 p.*365S 0.998 NULL pfam_FIBP - no_errors FIBP HGNC ENSG00000172500 27 0 0.00 26 7 21.21 - - - FLNA 0 genome.wustl.edu 37 X 153590634 153590634 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 153590634 153590634 C T SNP FLNA ENST00000369850 human ensembl 69_37n -1 known missense c.2632 p.E878K 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 33 0 0.00 27 12 30.77 - - - FOXA1 0 genome.wustl.edu 37 14 38061240 38061240 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 38061240 38061240 G A SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.749 p.S250F 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 21 0 0.00 8 5 38.46 - - - FOXL1 0 genome.wustl.edu 37 16 86612425 86612425 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 86612425 86612425 C T SNP FOXL1 ENST00000320241 human ensembl 69_37n +1 known silent c.96 p.F32 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 22 0 0.00 8 4 33.33 - - - FRMD1 0 genome.wustl.edu 37 6 168468077 168468077 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 168468077 168468077 G A SNP FRMD1 ENST00000283309 human ensembl 69_37n -1 known silent c.354 p.F118 0.998 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 45 0 0.00 43 8 15.38 - - - FST 0 genome.wustl.edu 37 5 52778852 52778852 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 52778852 52778852 C T SNP FST ENST00000256759 human ensembl 69_37n +1 known silent c.228 p.F76 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal - no_errors FST HGNC ENSG00000134363 30 0 0.00 32 9 21.95 - - - FUT8 0 genome.wustl.edu 37 14 66136187 66136187 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 66136187 66136187 G C SNP FUT8 ENST00000360689 human ensembl 69_37n +1 known missense c.824 p.G275A 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 64 0 0.00 52 8 13.33 - - - G3BP2 0 genome.wustl.edu 37 4 76570845 76570845 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 76570845 76570845 C G SNP G3BP2 ENST00000359707 human ensembl 69_37n -1 known missense c.1218 p.E406D 1.000 pfscan_RRM_dom pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 150 0 0.00 137 18 11.61 - - - GALNT8 0 genome.wustl.edu 37 12 4848374 4848374 + Silent SNP C C A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 4848374 4848374 C A SNP GALNT8 ENST00000252318 human ensembl 69_37n +1 known silent c.555 p.V185 0.925 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 94 0 0.00 57 11 16.18 - - - GAPVD1 0 genome.wustl.edu 37 9 128099860 128099860 + Nonsense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 128099860 128099860 C G SNP GAPVD1 ENST00000394105 human ensembl 69_37n +1 known nonsense c.2948 p.S983* 0.960 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 37 0 0.00 38 6 13.64 - - - GATA3 0 genome.wustl.edu 37 10 8105964 8105964 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 8105964 8105964 G A SNP GATA3 ENST00000379328 human ensembl 69_37n +1 known missense c.787 p.E263K 1.000 smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 69 0 0.00 76 12 13.64 - - - GATA3 0 genome.wustl.edu 37 10 8106058 8106058 + Missense_Mutation SNP T T A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 8106058 8106058 T A SNP GATA3 ENST00000379328 human ensembl 69_37n +1 known missense c.881 p.M294K 1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 55 0 0.00 56 10 15.15 - - - GBP1 0 genome.wustl.edu 37 1 89524633 89524633 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 89524633 89524633 G A SNP GBP1 ENST00000370473 human ensembl 69_37n -1 known silent c.522 p.F174 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP1 HGNC ENSG00000117228 95 0 0.00 73 18 19.57 - - - GGTLC1 0 genome.wustl.edu 37 20 23966755 23966755 + Nonsense_Mutation SNP C C A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 20 23966755 23966755 C A SNP GGTLC1 ENST00000278765 human ensembl 69_37n -1 known nonsense c.262 p.E88* 0.999 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 77 0 0.00 57 8 12.31 - - - GJD4 0 genome.wustl.edu 37 10 35896912 35896912 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 35896912 35896912 C T SNP GJD4 ENST00000321660 human ensembl 69_37n +1 known silent c.471 p.F157 0.043 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD4 HGNC ENSG00000177291 11 0 0.00 7 4 36.36 - - - GLCCI1 0 genome.wustl.edu 37 7 8095167 8095167 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 8095167 8095167 C T SNP GLCCI1 ENST00000438949 human ensembl 69_37n +1 known nonsense c.31 p.Q11* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GLCCI1 HGNC ENSG00000106415 67 0 0.00 64 18 21.95 - - - GLDC 0 genome.wustl.edu 37 9 6644674 6644674 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 6644674 6644674 C T SNP GLDC ENST00000321612 human ensembl 69_37n -1 known missense c.274 p.E92K 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 49 0 0.00 39 8 17.02 - - - GLE1 0 genome.wustl.edu 37 9 131271192 131271192 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 131271192 131271192 C T SNP GLE1 ENST00000309971 human ensembl 69_37n +1 known missense c.137 p.S46F 0.637 NULL pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 88 0 0.00 85 15 15.00 - - - GLI3 0 genome.wustl.edu 37 7 42017206 42017206 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 42017206 42017206 G A SNP GLI3 ENST00000395925 human ensembl 69_37n -1 known missense c.1763 p.S588L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 132 0 0.00 86 14 14.00 - - - GOLGA3 0 genome.wustl.edu 37 12 133354347 133354347 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 133354347 133354347 G C SNP GOLGA3 ENST00000204726 human ensembl 69_37n -1 known missense c.3627 p.F1209L 0.985 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 35 0 0.00 16 5 23.81 - - - GPR144 0 genome.wustl.edu 37 9 127220513 127220513 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 127220513 127220513 G C SNP GPR144 ENST00000334810 human ensembl 69_37n +1 known missense c.1683 p.Q561H 0.998 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,prints_Pentaxin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR144 HGNC ENSG00000180264 20 0 0.00 16 4 20.00 - - - GPR39 0 genome.wustl.edu 37 2 133174900 133174900 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 133174900 133174900 C G SNP GPR39 ENST00000329321 human ensembl 69_37n +1 known missense c.285 p.I95M 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 69 0 0.00 59 9 13.24 - - - GPR39 0 genome.wustl.edu 37 2 133402801 133402801 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 133402801 133402801 C T SNP GPR39 ENST00000329321 human ensembl 69_37n +1 known silent c.984 p.F328 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 30 0 0.00 42 9 17.65 - - - GPR98 0 genome.wustl.edu 37 5 90002097 90002097 + Missense_Mutation SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 90002097 90002097 G T SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.8616 p.K2872N 0.999 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 60 0 0.00 66 11 14.29 - - - GREB1 0 genome.wustl.edu 37 2 11752669 11752669 + Nonsense_Mutation SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 11752669 11752669 G T SNP GREB1 ENST00000234142 human ensembl 69_37n +1 known nonsense c.3055 p.E1019* 1.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 95 0 0.00 86 17 16.35 - - - GRIA1 0 genome.wustl.edu 37 5 153149727 153149727 + Splice_Site SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 153149727 153149727 G C SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known splice_site c.2053-1 e13-1 1.000 - - - no_errors GRIA1 HGNC ENSG00000155511 78 0 0.00 97 15 13.39 - - - GRIN2A 0 genome.wustl.edu 37 16 9858521 9858521 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 9858521 9858521 C T SNP GRIN2A ENST00000330684 human ensembl 69_37n -1 known missense c.2880 p.M960I 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 60 0 0.00 59 9 13.04 - - - GRIP1 0 genome.wustl.edu 37 12 66765534 66765534 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 66765534 66765534 C T SNP GRIP1 ENST00000359742 human ensembl 69_37n -1 known silent c.2952 p.L984 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 54 0 0.00 67 13 16.25 - - - GRK4 0 genome.wustl.edu 37 4 2986304 2986304 + Silent SNP C C A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 2986304 2986304 C A SNP GRK4 ENST00000398052 human ensembl 69_37n +1 known silent c.117 p.V39 0.970 superfamily_Regulat_G_prot_signal_superfam pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 26 0 0.00 17 6 26.09 - - - GUCA1C 0 genome.wustl.edu 37 3 108672495 108672495 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 108672495 108672495 C T SNP GUCA1C ENST00000261047 human ensembl 69_37n -1 known missense c.115 p.E39K 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 70 0 0.00 81 14 14.74 - - - GUCA2B 0 genome.wustl.edu 37 1 42619187 42619187 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 42619187 42619187 G A SNP GUCA2B ENST00000372581 human ensembl 69_37n +1 known silent c.66 p.Q22 0.984 pfam_Guanylin,pirsf_Guanylin,prints_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2B HGNC ENSG00000044012 35 0 0.00 24 5 17.24 - - - HAAO 0 genome.wustl.edu 37 2 43015732 43015732 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 43015732 43015732 G C SNP HAAO ENST00000294973 human ensembl 69_37n -1 known silent c.96 p.L32 1.000 pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase - no_errors HAAO HGNC ENSG00000162882 74 0 0.00 75 18 19.35 - - - HARBI1 0 genome.wustl.edu 37 11 46625236 46625236 + Silent SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 46625236 46625236 G T SNP HARBI1 ENST00000326737 human ensembl 69_37n -1 known silent c.894 p.L298 1.000 pfam_HARBI1_nuclease_put pfam_HARBI1_nuclease_put - no_errors HARBI1 HGNC ENSG00000180423 70 0 0.00 44 14 24.14 - - - HCRTR1 0 genome.wustl.edu 37 1 32092459 32092459 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 32092459 32092459 C T SNP HCRTR1 ENST00000373706 human ensembl 69_37n +1 known silent c.1156 p.L386 1.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 26 0 0.00 27 8 22.86 - - - HEATR4 0 genome.wustl.edu 37 14 73969631 73969631 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 73969631 73969631 C G SNP HEATR4 ENST00000334988 human ensembl 69_37n -1 known missense c.2073 p.M691I 0.997 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 51 0 0.00 49 7 12.50 - - - HES1 0 genome.wustl.edu 37 3 193854434 193854434 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 193854434 193854434 G A SNP HES1 ENST00000232424 human ensembl 69_37n +1 known missense c.137 p.R46Q 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_Orange,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors HES1 HGNC ENSG00000114315 72 0 0.00 30 9 23.08 - - - HEYL 0 genome.wustl.edu 37 1 40098333 40098333 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 40098333 40098333 C T SNP HEYL ENST00000372852 human ensembl 69_37n -1 known silent c.135 p.K45 1.000 pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd - no_errors HEYL HGNC ENSG00000163909 90 0 0.00 42 12 21.82 - - - HHLA1 0 genome.wustl.edu 37 8 133088304 133088304 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 133088304 133088304 G A SNP HHLA1 ENST00000414222 human ensembl 69_37n -1 known missense c.1313 p.S438L 0.560 NULL NULL - no_errors HHLA1 HGNC ENSG00000132297 73 0 0.00 43 8 15.69 - - - HIRA 0 genome.wustl.edu 37 22 19346930 19346930 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 19346930 19346930 C T SNP HIRA ENST00000263208 human ensembl 69_37n -1 known silent c.2163 p.L721 0.995 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 93 0 0.00 92 21 18.58 - - - HIST2H3D 0 genome.wustl.edu 37 1 149784945 149784945 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 149784945 149784945 C G SNP HIST2H3D ENST00000331491 human ensembl 69_37n -1 known missense c.292 p.E98Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3D HGNC ENSG00000183598 46 0 0.00 30 4 11.76 - - - HMCN1 0 genome.wustl.edu 37 1 186106009 186106009 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 186106009 186106009 G C SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.13522 p.E4508Q 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 51 0 0.00 38 8 17.39 - - - HMGN2P46 0 genome.wustl.edu 37 15 45839312 45839312 + RNA SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 45839312 45839312 G A SNP HMGN2P46 ENST00000313559 human ensembl 69_37n +1 known rna NULL NULL 0.081 - - - no_errors HMGN2P46 HGNC ENSG00000179362 33 0 0.00 12 17 58.62 - - - HNRNPA1 0 genome.wustl.edu 37 12 54676905 54676905 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 54676905 54676905 G C SNP HNRNPA1 ENST00000340913 human ensembl 69_37n +1 known missense c.794 p.R265T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1 HGNC ENSG00000135486 121 0 0.00 95 18 15.93 - - - HUWE1 0 genome.wustl.edu 37 X 53570803 53570803 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 53570803 53570803 G A SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.11378 p.T3793M 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 40 0 0.00 63 9 12.50 - - - HYDIN 0 genome.wustl.edu 37 16 71163612 71163612 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 71163612 71163612 C T SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known silent c.1158 p.A386 0.997 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 59 0 0.00 40 10 20.00 - - - IGF2BP2 0 genome.wustl.edu 37 3 185375096 185375096 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 185375096 185375096 C T SNP IGF2BP2 ENST00000382199 human ensembl 69_37n -1 known missense c.1364 p.R455K 0.990 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 38 0 0.00 13 10 43.48 - - - IGF2R 0 genome.wustl.edu 37 6 160445709 160445709 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 160445709 160445709 C G SNP IGF2R ENST00000356956 human ensembl 69_37n +1 known missense c.619 p.L207V 0.998 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 91 0 0.00 71 18 20.22 - - - IGHG2 0 genome.wustl.edu 37 14 106110068 106110068 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 106110068 106110068 C T SNP IGHG2 ENST00000390545 human ensembl 69_37n -1 known missense c.550 p.V184I 0.002 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHG2 HGNC ENSG00000211893 126 0 0.00 80 14 14.89 - - - IKBIP 0 genome.wustl.edu 37 12 99020541 99020541 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 99020541 99020541 C G SNP IKBIP ENST00000299157 human ensembl 69_37n -1 known missense c.301 p.E101Q 1.000 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 18 0 0.00 18 8 30.77 - - - IL16 0 genome.wustl.edu 37 15 81571975 81571975 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 81571975 81571975 C G SNP IL16 ENST00000302987 human ensembl 69_37n +1 known missense c.941 p.S314C 0.886 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Interleukin-16 - no_errors IL16 HGNC ENSG00000172349 33 0 0.00 17 8 32.00 - - - IMMT 0 genome.wustl.edu 37 2 86371534 86371534 + Nonsense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 86371534 86371534 G A SNP IMMT ENST00000410111 human ensembl 69_37n -1 known nonsense c.2134 p.Q712* 1.000 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 76 0 0.00 71 24 25.26 - - - IQUB 0 genome.wustl.edu 37 7 123109376 123109376 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 123109376 123109376 G A SNP IQUB ENST00000324698 human ensembl 69_37n -1 known silent c.1473 p.F491 1.000 NULL pfam_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 120 0 0.00 110 13 10.48 - - - ITGA2B 0 genome.wustl.edu 37 17 42453698 42453698 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 42453698 42453698 C G SNP ITGA2B ENST00000262407 human ensembl 69_37n -1 known missense c.2326 p.E776Q 0.126 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 60 0 0.00 49 11 18.33 - - - KCND3 0 genome.wustl.edu 37 1 112318791 112318791 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 112318791 112318791 C T SNP KCND3 ENST00000315987 human ensembl 69_37n -1 known missense c.1876 p.E626K 1.000 NULL pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 60 0 0.00 57 15 20.83 - - - KCNQ3 0 genome.wustl.edu 37 8 133142088 133142088 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 133142088 133142088 C T SNP KCNQ3 ENST00000388996 human ensembl 69_37n -1 known silent c.2040 p.L680 0.999 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 27 0 0.00 20 7 25.93 - - - KCNS2 0 genome.wustl.edu 37 8 99440631 99440631 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 99440631 99440631 G A SNP KCNS2 ENST00000287042 human ensembl 69_37n +1 known missense c.424 p.E142K 1.000 NULL pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 46 0 0.00 38 6 13.64 - - - KIAA0195 0 genome.wustl.edu 37 17 73484157 73484157 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 73484157 73484157 G C SNP KIAA0195 ENST00000314256 human ensembl 69_37n +1 known missense c.554 p.G185A 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 55 0 0.00 54 14 20.59 - - - KIAA1109 0 genome.wustl.edu 37 4 123277097 123277097 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 123277097 123277097 G A SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known missense c.14452 p.D4818N 1.000 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 81 0 0.00 75 10 11.76 - - - KIAA1407 0 genome.wustl.edu 37 3 113755607 113755607 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 113755607 113755607 C G SNP KIAA1407 ENST00000295878 human ensembl 69_37n -1 known missense c.442 p.E148Q 0.998 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 113 0 0.00 114 21 15.56 - - - KIAA1731 0 genome.wustl.edu 37 11 93456347 93456347 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 93456347 93456347 C G SNP KIAA1731 ENST00000411936 human ensembl 69_37n +1 known missense c.6088 p.L2030V 0.002 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 46 0 0.00 23 9 28.12 - - - KIAA1737 0 genome.wustl.edu 37 14 77576159 77576159 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 77576159 77576159 G A SNP KIAA1737 ENST00000361786 human ensembl 69_37n +1 known silent c.141 p.G47 1.000 NULL NULL - no_errors KIAA1737 HGNC ENSG00000198894 34 0 0.00 23 5 17.86 - - - KIAA1737 0 genome.wustl.edu 37 14 77579894 77579894 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 77579894 77579894 G A SNP KIAA1737 ENST00000361786 human ensembl 69_37n +1 known missense c.433 p.E145K 0.628 NULL NULL - no_errors KIAA1737 HGNC ENSG00000198894 45 0 0.00 49 17 25.37 - - - KIAA1804 0 genome.wustl.edu 37 1 233490734 233490734 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 233490734 233490734 G A SNP KIAA1804 ENST00000366624 human ensembl 69_37n +1 known missense c.1288 p.D430N 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors RP5-862P8.2 Clone_based_vega_gene ENSG00000143674 37 0 0.00 24 7 21.88 - - - KIF14 0 genome.wustl.edu 37 1 200569198 200569198 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 200569198 200569198 G C SNP KIF14 ENST00000367350 human ensembl 69_37n -1 known missense c.2344 p.Q782E 0.997 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 58 0 0.00 59 16 21.33 - - - KIF1A 0 genome.wustl.edu 37 2 241710399 241710399 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 241710399 241710399 C G SNP KIF1A ENST00000498729 human ensembl 69_37n -1 known missense c.1330 p.E444Q 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 37 0 0.00 30 11 26.83 - - - KIF21B 0 genome.wustl.edu 37 1 200960101 200960101 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 200960101 200960101 G C SNP KIF21B ENST00000422435 human ensembl 69_37n -1 known missense c.2631 p.I877M 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 39 0 0.00 33 4 10.81 - - - KIF4A 0 genome.wustl.edu 37 X 69563755 69563755 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 69563755 69563755 G A SNP KIF4A ENST00000374403 human ensembl 69_37n +1 known missense c.1354 p.E452K 0.972 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 51 0 0.00 54 15 21.74 - - - KLC1 0 genome.wustl.edu 37 14 104145801 104145801 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 104145801 104145801 G C SNP KLC1 ENST00000334553 human ensembl 69_37n +1 known missense c.1569 p.E523D 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC1 HGNC ENSG00000126214 75 0 0.00 59 9 13.24 - - - KLHL13 0 genome.wustl.edu 37 X 117054217 117054217 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 117054217 117054217 G C SNP KLHL13 ENST00000539496 human ensembl 69_37n -1 known missense c.366 p.F122L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 58 0 0.00 49 14 22.22 - - - KRT35 0 genome.wustl.edu 37 17 39637140 39637140 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 39637140 39637140 G A SNP KRT35 ENST00000393989 human ensembl 69_37n -1 known silent c.210 p.L70 0.007 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 33 0 0.00 40 7 14.89 - - - L3MBTL3 0 genome.wustl.edu 37 6 130407294 130407294 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 130407294 130407294 C T SNP L3MBTL3 ENST00000361794 human ensembl 69_37n +1 known missense c.1417 p.H473Y 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 67 0 0.00 70 8 10.26 - - - LAMA1 0 genome.wustl.edu 37 18 6992681 6992681 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 18 6992681 6992681 C T SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known missense c.5047 p.E1683K 0.000 pfam_Laminin_I 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 71 0 0.00 41 10 19.61 - - - LAMB2 0 genome.wustl.edu 37 3 49169564 49169564 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 49169564 49169564 G A SNP LAMB2 ENST00000305544 human ensembl 69_37n -1 known silent c.444 p.L148 0.997 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 60 0 0.00 26 5 16.13 - - - LARP4 0 genome.wustl.edu 37 12 50860767 50860767 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 50860767 50860767 C T SNP LARP4 ENST00000429001 human ensembl 69_37n +1 known missense c.1427 p.S476L 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 96 0 0.00 47 15 24.19 - - - LGALS1 0 genome.wustl.edu 37 22 38074659 38074659 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 38074659 38074659 G C SNP LGALS1 ENST00000215909 human ensembl 69_37n +1 known missense c.259 p.E87Q 0.971 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS1 HGNC ENSG00000100097 16 0 0.00 10 4 28.57 - - - LIN7B 0 genome.wustl.edu 37 19 49619635 49619635 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 49619635 49619635 C T SNP LIN7B ENST00000221459 human ensembl 69_37n +1 known missense c.344 p.S115L 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7B HGNC ENSG00000104863 37 0 0.00 23 5 17.86 - - - LINGO2 0 genome.wustl.edu 37 9 27950141 27950141 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 27950141 27950141 G A SNP LINGO2 ENST00000308675 human ensembl 69_37n -1 known missense c.529 p.L177F 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC ENSG00000174482 25 0 0.00 24 5 17.24 - - - LPHN3 0 genome.wustl.edu 37 4 62800719 62800719 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 62800719 62800719 C T SNP LPHN3 ENST00000502815 human ensembl 69_37n +1 known nonsense c.442 p.Q148* 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,prints_GPCR_2_latrophilin,pfscan_GPS_dom,pfscan_GPCR_2-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LPHN3 HGNC ENSG00000150471 74 0 0.00 55 9 14.06 - - - LPO 0 genome.wustl.edu 37 17 56321413 56321413 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 56321413 56321413 C T SNP LPO ENST00000262290 human ensembl 69_37n +1 known silent c.135 p.V45 1.000 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 42 0 0.00 31 6 16.22 - - - LRPPRC 0 genome.wustl.edu 37 2 44161331 44161331 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 44161331 44161331 C T SNP LRPPRC ENST00000260665 human ensembl 69_37n -1 known missense c.2734 p.E912K 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 86 0 0.00 71 17 19.32 - - - LRRC8C 0 genome.wustl.edu 37 1 90178302 90178302 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 90178302 90178302 G C SNP LRRC8C ENST00000370454 human ensembl 69_37n +1 known missense c.173 p.R58T 0.998 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 31 0 0.00 23 6 20.69 - - - LRRN1 0 genome.wustl.edu 37 3 3886976 3886976 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 3886976 3886976 G A SNP LRRN1 ENST00000319331 human ensembl 69_37n +1 known silent c.651 p.L217 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN1 HGNC ENSG00000175928 44 0 0.00 37 10 21.28 - - - LRRN2 0 genome.wustl.edu 37 1 204587686 204587686 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 204587686 204587686 C T SNP LRRN2 ENST00000367175 human ensembl 69_37n -1 known missense c.1435 p.E479K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRN2 HGNC ENSG00000170382 46 0 0.00 22 6 21.43 - - - LSP1 0 genome.wustl.edu 37 11 1905529 1905529 + Missense_Mutation SNP C C A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 1905529 1905529 C A SNP LSP1 ENST00000311604 human ensembl 69_37n +1 known missense c.611 p.S204Y 1.000 pfam_Caldesmon_LSP,prints_Lymphspecific pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC ENSG00000130592 76 0 0.00 56 10 15.15 - - - LYRM7 0 genome.wustl.edu 37 5 130535233 130535233 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 130535233 130535233 C G SNP LYRM7 ENST00000379380 human ensembl 69_37n +1 known missense c.254 p.P85R 1.000 NULL pfam_Complex1_LYR - no_errors LYRM7 HGNC ENSG00000186687 32 0 0.00 40 7 14.89 - - - MACF1 0 genome.wustl.edu 37 1 39757591 39757591 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 39757591 39757591 G C SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.1810 p.E604Q 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 32 0 0.00 33 4 10.81 - - - MAMDC4 0 genome.wustl.edu 37 9 139751636 139751636 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 139751636 139751636 G C SNP MAMDC4 ENST00000445819 human ensembl 69_37n +1 known missense c.2229 p.M743I 0.018 pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom - no_errors MAMDC4 HGNC ENSG00000177943 16 0 0.00 15 4 21.05 - - - MAMLD1 0 genome.wustl.edu 37 X 149639115 149639115 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 149639115 149639115 C T SNP MAMLD1 ENST00000432680 human ensembl 69_37n +1 known nonsense c.1195 p.Q399* 0.360 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 14 0 0.00 6 8 57.14 - - - MASP1 0 genome.wustl.edu 37 3 186954290 186954290 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 186954290 186954290 C T SNP MASP1 ENST00000296280 human ensembl 69_37n -1 known missense c.1369 p.E457K 0.995 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6 - no_errors MASP1 HGNC ENSG00000127241 29 0 0.00 30 4 11.76 - - - MBTD1 0 genome.wustl.edu 37 17 49270242 49270242 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 49270242 49270242 C T SNP MBTD1 ENST00000415868 human ensembl 69_37n -1 known missense c.1591 p.E531K 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC ENSG00000011258 82 0 0.00 60 11 15.49 - - - MCM2 0 genome.wustl.edu 37 3 127325047 127325047 + Nonsense_Mutation SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 127325047 127325047 G T SNP MCM2 ENST00000265056 human ensembl 69_37n +1 known nonsense c.760 p.E254* 1.000 superfamily_NA-bd_OB-fold-like pfam_MCM_DNA-dep_ATPase,pfam_MCM_2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 59 0 0.00 34 4 10.26 - - - MCM7 0 genome.wustl.edu 37 7 99694960 99694960 + Nonsense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 99694960 99694960 G A SNP MCM7 ENST00000303887 human ensembl 69_37n -1 known nonsense c.1165 p.Q389* 1.000 pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM_7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 74 0 0.00 52 6 10.34 - - - MCPH1 0 genome.wustl.edu 37 8 6302903 6302903 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 6302903 6302903 G A SNP MCPH1 ENST00000344683 human ensembl 69_37n +1 known missense c.1660 p.E554K 0.002 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors MCPH1 HGNC ENSG00000147316 26 0 0.00 17 5 22.73 - - - MDN1 0 genome.wustl.edu 37 6 90366470 90366470 + Silent SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 90366470 90366470 C G SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known silent c.15234 p.S5078 0.373 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 80 0 0.00 75 11 12.79 - - - MED1 0 genome.wustl.edu 37 17 37566462 37566462 + Missense_Mutation SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 37566462 37566462 G T SNP MED1 ENST00000300651 human ensembl 69_37n -1 known missense c.2012 p.S671Y 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 42 0 0.00 37 6 13.95 - - - MED15 0 genome.wustl.edu 37 22 20939276 20939276 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 20939276 20939276 G C SNP MED15 ENST00000263205 human ensembl 69_37n +1 known missense c.1938 p.M646I 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 64 0 0.00 54 20 27.03 - - - METTL25 0 genome.wustl.edu 37 12 82792682 82792682 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 82792682 82792682 G C SNP METTL25 ENST00000248306 human ensembl 69_37n +1 known missense c.640 p.E214Q 0.960 NULL NULL - no_errors METTL25 HGNC ENSG00000127720 37 0 0.00 30 5 14.29 - - - MLPH 0 genome.wustl.edu 37 2 238449572 238449572 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 238449572 238449572 C T SNP MLPH ENST00000264605 human ensembl 69_37n +1 known missense c.1418 p.A473V 0.042 pfam_Myelin-assoc_OBP pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC ENSG00000115648 58 0 0.00 36 5 12.20 - - - MLX 0 genome.wustl.edu 37 17 40722134 40722134 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 40722134 40722134 C T SNP MLX ENST00000246912 human ensembl 69_37n +1 known missense c.773 p.S258L 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MLX HGNC ENSG00000108788 71 0 0.00 53 9 14.52 - - - MMD2 0 genome.wustl.edu 37 7 4959833 4959833 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 4959833 4959833 G A SNP MMD2 ENST00000404774 human ensembl 69_37n -1 known missense c.259 p.H87Y 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 24 0 0.00 8 6 42.86 - - - MRAP 0 genome.wustl.edu 37 21 33679048 33679048 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 21 33679048 33679048 G A SNP MRAP ENST00000303645 human ensembl 69_37n +1 known missense c.204 p.M68I 0.004 NULL NULL - no_errors MRAP HGNC ENSG00000170262 55 0 0.00 61 15 19.74 - - - MRPL48 0 genome.wustl.edu 37 11 73536836 73536836 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 73536836 73536836 G A SNP MRPL48 ENST00000310614 human ensembl 69_37n +1 known missense c.196 p.E66K 0.000 NULL pfam_Ribosomal_S10,superfamily_Ribosomal_S10 - no_errors MRPL48 HGNC ENSG00000175581 42 0 0.00 39 13 25.00 - - - MTDH 0 genome.wustl.edu 37 8 98736890 98736890 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 98736890 98736890 G A SNP MTDH ENST00000336273 human ensembl 69_37n +1 known missense c.1741 p.E581K 1.000 NULL NULL - no_errors MTDH HGNC ENSG00000147649 106 0 0.00 59 18 23.38 - - - MTERFD3 0 genome.wustl.edu 37 12 107371808 107371808 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 107371808 107371808 C G SNP MTERFD3 ENST00000240050 human ensembl 69_37n -1 known missense c.685 p.E229Q 1.000 pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 32 0 0.00 17 7 29.17 - - - MUC16 0 genome.wustl.edu 37 19 9049091 9049091 + Nonsense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 9049091 9049091 G C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known nonsense c.32540 p.S10847* 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 75 0 0.00 48 9 15.52 - - - MYO5A 0 genome.wustl.edu 37 15 52667644 52667644 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 52667644 52667644 G A SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known silent c.2434 p.L812 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 68 0 0.00 54 10 15.62 - - - MYOM2 0 genome.wustl.edu 37 8 2064059 2064059 + Silent SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 2064059 2064059 C G SNP MYOM2 ENST00000262113 human ensembl 69_37n +1 known silent c.3375 p.L1125 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 49 0 0.00 45 11 19.64 - - - MZB1 0 genome.wustl.edu 37 5 138723536 138723536 + Missense_Mutation SNP C C A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 138723536 138723536 C A SNP MZB1 ENST00000412103 human ensembl 69_37n -1 known missense c.212 p.R71L 0.000 NULL NULL - no_errors RP11-1280I22.1 Clone_based_vega_gene ENSG00000170476 45 0 0.00 69 11 13.75 - - - NBEA 0 genome.wustl.edu 37 13 35756527 35756527 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 13 35756527 35756527 C T SNP NBEA ENST00000310336 human ensembl 69_37n +1 known silent c.4693 p.L1565 0.914 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 95 0 0.00 54 19 26.03 - - - NCSTN 0 genome.wustl.edu 37 1 160323980 160323980 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 160323980 160323980 C T SNP NCSTN ENST00000294785 human ensembl 69_37n +1 known nonsense c.1252 p.Q418* 0.000 pfam_Nicastrin pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 103 0 0.00 74 14 15.91 - - - NDRG4 0 genome.wustl.edu 37 16 58537830 58537830 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 58537830 58537830 C T SNP NDRG4 ENST00000563799 human ensembl 69_37n +1 known silent c.150 p.V50 0.000 NULL pfam_Ndr - no_errors NDRG4 HGNC ENSG00000103034 25 0 0.00 16 8 33.33 - - - NFKBIL1 0 genome.wustl.edu 37 6 31525610 31525610 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 31525610 31525610 C T SNP NFKBIL1 ENST00000376148 human ensembl 69_37n +1 known silent c.540 p.V180 0.979 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBIL1 HGNC ENSG00000204498 35 0 0.00 23 4 14.81 - - - NHLRC2 0 genome.wustl.edu 37 10 115639357 115639357 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 115639357 115639357 G A SNP NHLRC2 ENST00000369301 human ensembl 69_37n +1 known missense c.812 p.G271E 1.000 NULL pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 29 0 0.00 25 6 19.35 - - - NINJ2 0 genome.wustl.edu 37 12 674406 674406 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 674406 674406 G C SNP NINJ2 ENST00000305108 human ensembl 69_37n -1 known missense c.562 p.L188V 0.000 NULL pfam_Ninjurin - no_errors NINJ2 HGNC ENSG00000171840 28 0 0.00 25 6 19.35 - - - NOTCH2 0 genome.wustl.edu 37 1 120493424 120493424 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 120493424 120493424 G A SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.2402 p.S801L 1.000 pirsf_Notch,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 60 0 0.00 54 15 21.74 - - - NPC1 0 genome.wustl.edu 37 18 21152054 21152054 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 18 21152054 21152054 G C SNP NPC1 ENST00000269228 human ensembl 69_37n -1 known missense c.271 p.L91V 0.998 tigrfam_NP_C_type pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 49 0 0.00 24 10 29.41 - - - NRSN1 0 genome.wustl.edu 37 6 24134607 24134607 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 24134607 24134607 G A SNP NRSN1 ENST00000378491 human ensembl 69_37n +1 known missense c.52 p.E18K 0.957 NULL NULL - no_errors NRSN1 HGNC ENSG00000152954 65 0 0.00 57 9 13.64 - - - NUDT9 0 genome.wustl.edu 37 4 88370351 88370351 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 88370351 88370351 C G SNP NUDT9 ENST00000302174 human ensembl 69_37n +1 known missense c.588 p.I196M 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT9 HGNC ENSG00000170502 77 0 0.00 46 17 26.56 - - - NYAP2 0 genome.wustl.edu 37 2 226446894 226446894 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 226446894 226446894 G C SNP NYAP2 ENST00000272907 human ensembl 69_37n +1 known missense c.761 p.R254T 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 33 0 0.00 30 5 14.29 - - - OAS3 0 genome.wustl.edu 37 12 113382293 113382293 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 113382293 113382293 C T SNP OAS3 ENST00000228928 human ensembl 69_37n +1 known missense c.473 p.S158F 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 33 0 0.00 31 8 20.51 - - - OBSCN 0 genome.wustl.edu 37 1 228521392 228521392 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 228521392 228521392 C G SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known missense c.15965 p.S5322C 0.094 pfam_Ig_I-set,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 39 0 0.00 42 10 19.23 - - - OLFM4 0 genome.wustl.edu 37 13 53608510 53608510 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 13 53608510 53608510 G A SNP OLFM4 ENST00000219022 human ensembl 69_37n +1 known missense c.232 p.D78N 0.990 NULL pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 117 0 0.00 79 10 10.99 - - - OPALIN 0 genome.wustl.edu 37 10 98109475 98109475 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 98109475 98109475 C T SNP OPALIN ENST00000371172 human ensembl 69_37n -1 known missense c.181 p.E61K 0.004 NULL NULL - no_errors OPALIN HGNC ENSG00000197430 53 0 0.00 37 8 17.78 - - - OR13C4 0 genome.wustl.edu 37 9 107288965 107288965 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 107288965 107288965 G A SNP OR13C4 ENST00000277216 human ensembl 69_37n -1 known missense c.526 p.H176Y 0.015 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR13C4 HGNC ENSG00000148136 55 0 0.00 24 10 29.41 - - - OR14I1 0 genome.wustl.edu 37 1 248844944 248844944 + Nonsense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 248844944 248844944 G C SNP OR14I1 ENST00000342623 human ensembl 69_37n -1 known nonsense c.662 p.S221* 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 35 0 0.00 27 6 18.18 - - - OR2L13 0 genome.wustl.edu 37 1 248262773 248262773 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 248262773 248262773 C T SNP OR2L13 ENST00000358120 human ensembl 69_37n +1 known silent c.96 p.L32 0.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2L13 HGNC ENSG00000196071 112 0 0.00 132 18 12.00 - - - OR51T1 0 genome.wustl.edu 37 11 4903218 4903218 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 4903218 4903218 C G SNP OR51T1 ENST00000380378 human ensembl 69_37n +1 known missense c.170 p.S57C 1.000 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 OR51T1 HGNC ENSG00000176900 90 0 0.00 87 15 14.71 - - - OR56B1 0 genome.wustl.edu 37 11 5757883 5757883 + Nonsense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 5757883 5757883 C G SNP OR56B1 ENST00000317121 human ensembl 69_37n +1 known nonsense c.137 p.S46* 0.000 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 OR56B1 HGNC ENSG00000181023 121 0 0.00 110 27 19.71 - - - OR5A2 0 genome.wustl.edu 37 11 59189855 59189855 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 59189855 59189855 G C SNP OR5A2 ENST00000302040 human ensembl 69_37n -1 known missense c.572 p.S191C 0.013 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5A2 HGNC ENSG00000172324 57 0 0.00 29 13 30.95 - - - OR5J2 0 genome.wustl.edu 37 11 55945014 55945014 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 55945014 55945014 G C SNP OR5J2 ENST00000312298 human ensembl 69_37n +1 known missense c.921 p.M307I 0.014 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 42 0 0.00 27 10 27.03 - - - OR6B1 0 genome.wustl.edu 37 7 143701593 143701593 + Missense_Mutation SNP C C A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 143701593 143701593 C A SNP OR6B1 ENST00000408922 human ensembl 69_37n +1 known missense c.504 p.F168L 0.735 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6B1 HGNC ENSG00000221813 34 0 0.00 23 15 39.47 - - - OR6B1 0 genome.wustl.edu 37 7 143701938 143701938 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 143701938 143701938 C T SNP OR6B1 ENST00000408922 human ensembl 69_37n +1 known silent c.849 p.L283 0.969 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6B1 HGNC ENSG00000221813 23 0 0.00 17 7 29.17 - - - OR6C76 0 genome.wustl.edu 37 12 55820956 55820957 + Frame_Shift_Ins INS - - A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 55820956 55820957 - A INS OR6C76 ENST00000328314 human ensembl 69_37n +1 known frame_shift_ins c.919_920 p.H307fs 0.001:0.001 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6C76 HGNC ENSG00000185821 9 0 0.00 3 2 40.00 - - - ORC1 0 genome.wustl.edu 37 1 52854969 52854969 + Missense_Mutation SNP C C A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 52854969 52854969 C A SNP ORC1 ENST00000371566 human ensembl 69_37n -1 known missense c.1107 p.Q369H 0.015 NULL pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 82 0 0.00 76 14 15.56 - - - OSBPL8 0 genome.wustl.edu 37 12 76749731 76749731 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 76749731 76749731 C G SNP OSBPL8 ENST00000261183 human ensembl 69_37n -1 known missense c.2608 p.D870H 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 64 0 0.00 38 13 25.49 - - - P2RY10 0 genome.wustl.edu 37 X 78216688 78216688 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 78216688 78216688 C T SNP P2RY10 ENST00000171757 human ensembl 69_37n +1 known missense c.671 p.S224F 0.676 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors P2RY10 HGNC ENSG00000078589 83 0 0.00 61 12 16.22 - - - P4HA3 0 genome.wustl.edu 37 11 74013501 74013501 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 74013501 74013501 C G SNP P4HA3 ENST00000331597 human ensembl 69_37n -1 known missense c.480 p.Q160H 1.000 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HA3 HGNC ENSG00000149380 56 0 0.00 31 8 20.51 - - - PADI3 0 genome.wustl.edu 37 1 17609485 17609485 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 17609485 17609485 C G SNP PADI3 ENST00000375460 human ensembl 69_37n +1 known missense c.1906 p.P636A 0.981 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 38 0 0.00 38 7 15.56 - - - PAEP 0 genome.wustl.edu 37 9 138454685 138454685 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 138454685 138454685 G C SNP PAEP ENST00000277508 human ensembl 69_37n +1 known missense c.256 p.E86Q 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Blactoglobulin,prints_Lipocalin - no_errors PAEP HGNC ENSG00000122133 59 0 0.00 33 9 21.43 - - - PAGE2B 0 genome.wustl.edu 37 X 55102533 55102533 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 55102533 55102533 C T SNP PAGE2B ENST00000374971 human ensembl 69_37n +1 known missense c.59 p.S20F 0.002 pfam_GAGE pfam_GAGE - no_errors PAGE2B HGNC ENSG00000238269 151 1 0.66 95 22 18.80 - - - PAPOLG 0 genome.wustl.edu 37 2 60987417 60987417 + Nonsense_Mutation SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 60987417 60987417 G T SNP PAPOLG ENST00000238714 human ensembl 69_37n +1 known nonsense c.166 p.E56* 1.000 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 44 0 0.00 28 12 30.00 - - - PARD3B 0 genome.wustl.edu 37 2 206166199 206166199 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 206166199 206166199 G C SNP PARD3B ENST00000406610 human ensembl 69_37n +1 known missense c.2404 p.D802H 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 37 0 0.00 25 5 16.67 - - - PARP4 0 genome.wustl.edu 37 13 25021263 25021263 + Missense_Mutation SNP T T C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 13 25021263 25021263 T C SNP PARP4 ENST00000381989 human ensembl 69_37n -1 known missense c.3176 p.Q1059R 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 32 0 0.00 42 5 10.64 - - - PCDHB2 0 genome.wustl.edu 37 5 140474807 140474807 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 140474807 140474807 C G SNP PCDHB2 ENST00000194155 human ensembl 69_37n +1 known missense c.433 p.P145A 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 19 0 0.00 13 4 23.53 - - - PCDHB6 0 genome.wustl.edu 37 5 140530263 140530263 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 140530263 140530263 C T SNP PCDHB6 ENST00000231136 human ensembl 69_37n +1 known missense c.425 p.S142L 0.237 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 39 0 0.00 29 7 19.44 - - - PCDHGA4 0 genome.wustl.edu 37 5 140737104 140737104 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 140737104 140737104 C T SNP PCDHGA4 ENST00000571252 human ensembl 69_37n +1 known silent c.2337 p.L779 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 40 0 0.00 49 11 18.33 - - - PCYT1A 0 genome.wustl.edu 37 3 195968822 195968822 + Silent SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 195968822 195968822 G T SNP PCYT1A ENST00000292823 human ensembl 69_37n -1 known silent c.705 p.I235 1.000 superfamily_NA-bd_OB-fold-like pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-rel - no_errors PCYT1A HGNC ENSG00000161217 38 0 0.00 28 8 22.22 - - - PDGFRB 0 genome.wustl.edu 37 5 149495436 149495436 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 149495436 149495436 C T SNP PDGFRB ENST00000261799 human ensembl 69_37n -1 known missense c.3211 p.E1071K 0.953 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_VEGFR_rcpt_N,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors PDGFRB HGNC ENSG00000113721 80 0 0.00 74 14 15.91 - - - PDRG1 0 genome.wustl.edu 37 20 30538178 30538178 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 20 30538178 30538178 C G SNP PDRG1 ENST00000202017 human ensembl 69_37n -1 known missense c.100 p.D34H 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PDRG1 HGNC ENSG00000088356 44 0 0.00 32 9 21.95 - - - PFAS 0 genome.wustl.edu 37 17 8158418 8158418 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 8158418 8158418 C T SNP PFAS ENST00000314666 human ensembl 69_37n +1 known missense c.352 p.R118C 0.997 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 35 0 0.00 19 7 26.92 - - - PGAP2 0 genome.wustl.edu 37 11 3845314 3845314 + Nonsense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 3845314 3845314 G A SNP PGAP2 ENST00000459679 human ensembl 69_37n +1 putative nonsense c.459 p.W153* 0.979 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PGAP2 HGNC ENSG00000148985 53 0 0.00 57 14 19.72 - - - PGD 0 genome.wustl.edu 37 1 10473184 10473184 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 10473184 10473184 C G SNP PGD ENST00000460189 human ensembl 69_37n +1 novel missense c.643 p.Q215E 1.000 pfam_6PGDH_C,superfamily_6-PGluconate_DH_C-like pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PGD HGNC ENSG00000142657 38 0 0.00 45 7 13.46 - - - PHKA2 0 genome.wustl.edu 37 X 18954233 18954233 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 18954233 18954233 G A SNP PHKA2 ENST00000379942 human ensembl 69_37n -1 known silent c.1077 p.L359 0.952 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 78 0 0.00 55 18 24.66 - - - PIGL 0 genome.wustl.edu 37 17 16221195 16221195 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 16221195 16221195 C T SNP PIGL ENST00000395844 human ensembl 69_37n +1 novel nonsense c.601 p.Q201* 0.885 NULL pfam_GlcNAc_PIno_de-acetylase,superfamily_LmbE-like_dom - no_errors PIGL HGNC ENSG00000108474 55 0 0.00 47 6 11.32 - - - PIK3CA 0 genome.wustl.edu 37 3 178952090 178952090 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 178952090 178952090 G C SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3145 p.G1049R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 40 0 0.00 39 7 15.22 - - - PKHD1L1 0 genome.wustl.edu 37 8 110461570 110461570 + Missense_Mutation SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 110461570 110461570 G T SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.6029 p.S2010I 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 59 0 0.00 55 11 16.67 - - - PKHD1L1 0 genome.wustl.edu 37 8 110477340 110477340 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 110477340 110477340 C G SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.8279 p.S2760C 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 53 0 0.00 33 11 25.00 - - - PLA2G7 0 genome.wustl.edu 37 6 46677151 46677151 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 46677151 46677151 G C SNP PLA2G7 ENST00000274793 human ensembl 69_37n -1 known missense c.782 p.S261C 0.999 pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF - no_errors PLA2G7 HGNC ENSG00000146070 62 0 0.00 51 10 16.39 - - - PLA2R1 0 genome.wustl.edu 37 2 160803360 160803360 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 160803360 160803360 C G SNP PLA2R1 ENST00000283243 human ensembl 69_37n -1 known missense c.3919 p.G1307R 0.193 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 112 0 0.00 66 11 14.29 - - - PLK2 0 genome.wustl.edu 37 5 57750794 57750794 + Nonsense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 57750794 57750794 G A SNP PLK2 ENST00000274289 human ensembl 69_37n -1 known nonsense c.1810 p.Q604* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK2 HGNC ENSG00000145632 63 0 0.00 57 11 16.18 - - - PLXNB2 0 genome.wustl.edu 37 22 50718176 50718176 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 50718176 50718176 G C SNP PLXNB2 ENST00000359337 human ensembl 69_37n -1 known silent c.4272 p.L1424 0.980 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 50 0 0.00 56 9 13.85 - - - PNLIP 0 genome.wustl.edu 37 10 118306857 118306857 + Missense_Mutation SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 118306857 118306857 G T SNP PNLIP ENST00000369221 human ensembl 69_37n +1 known missense c.98 p.W33L 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 38 0 0.00 19 4 17.39 - - - POGLUT1 0 genome.wustl.edu 37 3 119187826 119187826 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 119187826 119187826 C T SNP POGLUT1 ENST00000476573 human ensembl 69_37n +1 putative missense c.17 p.S6F 0.995 NULL pfam_LipoPS_modifying - no_start_codon:pseudogene:no_stop_codon POGLUT1 HGNC ENSG00000163389 24 0 0.00 14 4 22.22 - - - POLA1 0 genome.wustl.edu 37 X 24735567 24735567 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 24735567 24735567 G C SNP POLA1 ENST00000379068 human ensembl 69_37n +1 known silent c.867 p.V289 0.173 tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 93 0 0.00 67 13 16.25 - - - POLDIP3 0 genome.wustl.edu 37 22 42981866 42981866 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 42981866 42981866 C T SNP POLDIP3 ENST00000252115 human ensembl 69_37n -1 known silent c.1197 p.L399 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors POLDIP3 HGNC ENSG00000100227 42 0 0.00 47 10 17.54 - - - POMGNT1 0 genome.wustl.edu 37 1 46662733 46662733 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 46662733 46662733 C T SNP POMGNT1 ENST00000371986 human ensembl 69_37n -1 known silent c.144 p.L48 1.000 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 34 0 0.00 32 8 20.00 - - - POTEI 0 genome.wustl.edu 37 2 131266543 131266543 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 131266543 131266543 G C SNP POTEI ENST00000451531 human ensembl 69_37n -1 novel missense c.266 p.S89C 0.001 NULL pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEI HGNC ENSG00000196834 84 0 0.00 38 9 19.15 - - - PPA2 0 genome.wustl.edu 37 4 106317458 106317458 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 106317458 106317458 G C SNP PPA2 ENST00000357415 human ensembl 69_37n -1 known missense c.862 p.Q288E 0.985 pfam_Pyrophosphatase,superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA2 HGNC ENSG00000138777 42 0 0.00 32 5 13.51 - - - PPP1R3A 0 genome.wustl.edu 37 7 113522199 113522199 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 113522199 113522199 G A SNP PPP1R3A ENST00000284601 human ensembl 69_37n -1 known silent c.861 p.I287 0.063 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 110 0 0.00 90 21 18.75 - - - PPP2CA 0 genome.wustl.edu 37 5 133533504 133533504 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 133533504 133533504 C T SNP PPP2CA ENST00000481195 human ensembl 69_37n -1 known missense c.889 p.E297K 1.000 NULL pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CA HGNC ENSG00000113575 33 0 0.00 33 9 21.43 - - - PPP2R1B 0 genome.wustl.edu 37 11 111597694 111597694 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 111597694 111597694 C G SNP PPP2R1B ENST00000311129 human ensembl 69_37n -1 known missense c.1999 p.D667H 0.956 NULL pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 72 0 0.00 68 21 23.60 - - - PRDM9 0 genome.wustl.edu 37 5 23522825 23522825 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 23522825 23522825 C T SNP PRDM9 ENST00000296682 human ensembl 69_37n +1 known missense c.713 p.S238L 0.990 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 55 0 0.00 68 8 10.39 - - - PRKAR2A 0 genome.wustl.edu 37 3 48793865 48793865 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 48793865 48793865 C G SNP PRKAR2A ENST00000265563 human ensembl 69_37n -1 known missense c.886 p.D296H 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2A HGNC ENSG00000114302 95 0 0.00 83 16 16.16 - - - PRMT3 0 genome.wustl.edu 37 11 20414539 20414539 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 20414539 20414539 C T SNP PRMT3 ENST00000331079 human ensembl 69_37n +1 known nonsense c.394 p.Q132* 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 55 0 0.00 64 9 12.33 - - - PRSS35 0 genome.wustl.edu 37 6 84233644 84233644 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 84233644 84233644 C T SNP PRSS35 ENST00000369700 human ensembl 69_37n +1 known nonsense c.484 p.Q162* 0.005 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like - no_errors PRSS35 HGNC ENSG00000146250 45 0 0.00 51 7 12.07 - - - PRUNE2 0 genome.wustl.edu 37 9 79441592 79441592 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 79441592 79441592 C T SNP PRUNE2 ENST00000376718 human ensembl 69_37n -1 novel missense c.565 p.E189K 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 52 0 0.00 30 8 20.51 - - - PTCHD2 0 genome.wustl.edu 37 1 11596435 11596435 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 11596435 11596435 G A SNP PTCHD2 ENST00000294484 human ensembl 69_37n +1 known missense c.3871 p.V1291M 1.000 pfam_Patched,pfam_MMPL-typ pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 39 0 0.00 27 4 12.90 - - - PTEN 0 genome.wustl.edu 37 10 89720709 89720709 + Nonsense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 89720709 89720709 C G SNP PTEN ENST00000371953 human ensembl 69_37n +1 known nonsense c.860 p.S287* 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 60 0 0.00 47 23 32.86 - - - PTER 0 genome.wustl.edu 37 10 16547122 16547122 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 16547122 16547122 G C SNP PTER ENST00000298942 human ensembl 69_37n +1 known missense c.802 p.D268H 0.982 pfam_Aryldialkylphosphatase pfam_Aryldialkylphosphatase,pfam_TatD_superfamily - no_errors PTER HGNC ENSG00000165983 93 0 0.00 70 16 18.60 - - - PTN 0 genome.wustl.edu 37 7 136936040 136936040 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 136936040 136936040 C T SNP PTN ENST00000348225 human ensembl 69_37n -1 known missense c.388 p.E130K 0.998 pfam_Midkine_heparin-bd_GF_C,superfamily_Midkine_heparin-bd_GF_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF pfam_Midkine_heparin-bd_GF_C,pfam_Midkine_heparin-bd_GF_N,superfamily_Midkine_heparin-bd_GF_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 131 1 0.75 135 31 18.67 - - - PTPN13 0 genome.wustl.edu 37 4 87694013 87694013 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 87694013 87694013 G C SNP PTPN13 ENST00000436978 human ensembl 69_37n +1 known missense c.5266 p.D1756H 0.321 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 55 0 0.00 46 10 17.86 - - - RAI2 0 genome.wustl.edu 37 X 17819188 17819188 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 17819188 17819188 C T SNP RAI2 ENST00000331511 human ensembl 69_37n -1 known missense c.943 p.E315K 0.997 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 74 0 0.00 51 11 17.74 - - - RARRES3 0 genome.wustl.edu 37 11 63312154 63312154 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 63312154 63312154 G A SNP RARRES3 ENST00000255688 human ensembl 69_37n +1 known silent c.180 p.V60 0.503 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 38 0 0.00 11 5 31.25 - - - RASA1 0 genome.wustl.edu 37 5 86676366 86676366 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 86676366 86676366 C T SNP RASA1 ENST00000274376 human ensembl 69_37n +1 known nonsense c.2644 p.Q882* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 67 0 0.00 73 13 14.94 - - - RASAL2 0 genome.wustl.edu 37 1 178436496 178436496 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 178436496 178436496 G C SNP RASAL2 ENST00000367649 human ensembl 69_37n +1 known missense c.3618 p.K1206N 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 57 0 0.00 56 10 15.15 - - - RBM25 0 genome.wustl.edu 37 14 73570039 73570039 + Missense_Mutation SNP A A T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 73570039 73570039 A T SNP RBM25 ENST00000261973 human ensembl 69_37n +1 known missense c.1007 p.E336V 1.000 NULL pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 121 0 0.00 66 13 16.46 - - - RBM39 0 genome.wustl.edu 37 20 34293154 34293154 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 20 34293154 34293154 G A SNP RBM39 ENST00000253363 human ensembl 69_37n -1 known missense c.1406 p.S469L 1.000 smart_RRM_dom_euk,smart_RRM_dom,tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM39 HGNC ENSG00000131051 73 0 0.00 82 17 17.17 - - - REG4 0 genome.wustl.edu 37 1 120345554 120345554 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 120345554 120345554 C G SNP REG4 ENST00000369401 human ensembl 69_37n -1 known missense c.302 p.R101T 0.079 NULL superfamily_C-type_lectin_fold - no_errors REG4 HGNC ENSG00000134193 54 0 0.00 31 5 13.51 - - - RGAG1 0 genome.wustl.edu 37 X 109696070 109696070 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 109696070 109696070 G A SNP RGAG1 ENST00000465301 human ensembl 69_37n +1 known missense c.2225 p.G742E 0.878 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 77 0 0.00 71 17 19.32 - - - RHOXF1 0 genome.wustl.edu 37 X 119249529 119249529 + Nonsense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 119249529 119249529 G A SNP RHOXF1 ENST00000217999 human ensembl 69_37n -1 known nonsense c.244 p.Q82* 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif - no_errors RHOXF1 HGNC ENSG00000101883 25 0 0.00 5 5 50.00 - - - RIMS2 0 genome.wustl.edu 37 8 104709373 104709373 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 104709373 104709373 C T SNP RIMS2 ENST00000406091 human ensembl 69_37n +1 known missense c.236 p.S79L 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 88 0 0.00 30 17 36.17 - - - RIOK2 0 genome.wustl.edu 37 5 96512941 96512941 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 96512941 96512941 C T SNP RIOK2 ENST00000283109 human ensembl 69_37n -1 known missense c.377 p.R126K 1.000 pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase - no_errors RIOK2 HGNC ENSG00000058729 106 0 0.00 89 22 19.64 - - - RLF 0 genome.wustl.edu 37 1 40661308 40661308 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 40661308 40661308 C T SNP RLF ENST00000372771 human ensembl 69_37n +1 known missense c.479 p.S160L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 54 0 0.00 40 13 24.53 - - - RNF13 0 genome.wustl.edu 37 3 149563824 149563824 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 149563824 149563824 C T SNP RNF13 ENST00000344229 human ensembl 69_37n +1 known missense c.11 p.S4F 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF13 HGNC ENSG00000082996 62 0 0.00 62 12 16.22 - - - ROBO1 0 genome.wustl.edu 37 3 78666929 78666929 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 78666929 78666929 C T SNP ROBO1 ENST00000464233 human ensembl 69_37n -1 known missense c.4138 p.E1380K 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 57 0 0.00 33 10 23.26 - - - ROS1 0 genome.wustl.edu 37 6 117609722 117609722 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 117609722 117609722 G A SNP ROS1 ENST00000368508 human ensembl 69_37n -1 known missense c.6977 p.S2326F 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 59 0 0.00 79 12 13.19 - - - RPL10A 0 genome.wustl.edu 37 6 35438059 35438059 + Silent SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 35438059 35438059 C G SNP RPL10A ENST00000322203 human ensembl 69_37n +1 known silent c.414 p.L138 1.000 pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF,pirsf_Ribosomal_L1 pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF,pirsf_Ribosomal_L1 - no_errors RPL10A HGNC ENSG00000198755 21 0 0.00 15 8 34.78 - - - RPP30 0 genome.wustl.edu 37 10 92660382 92660382 + Silent SNP A A T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 92660382 92660382 A T SNP RPP30 ENST00000413330 human ensembl 69_37n +1 known silent c.753 p.S251 0.852 NULL pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like - no_errors RPP30 HGNC ENSG00000148688 73 0 0.00 35 15 30.00 - - - RPUSD2 0 genome.wustl.edu 37 15 40864016 40864016 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 40864016 40864016 G C SNP RPUSD2 ENST00000315616 human ensembl 69_37n +1 known missense c.820 p.D274H 1.000 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 34 0 0.00 42 13 22.41 - - - RYR3 0 genome.wustl.edu 37 15 33954819 33954819 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 33954819 33954819 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.5088 p.L1696 0.996 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 46 0 0.00 46 10 17.86 - - - RYR3 0 genome.wustl.edu 37 15 34134069 34134069 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 34134069 34134069 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.13042 p.E4348K 1.000 pfam_Ryanrecept_TM4-6,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 95 0 0.00 73 9 10.98 - - - SACS 0 genome.wustl.edu 37 13 23928978 23928978 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 13 23928978 23928978 G C SNP SACS ENST00000455470 human ensembl 69_37n -1 putative missense c.1471 p.Q491E 0.953 NULL superfamily_ATPase-like_ATP-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SACS HGNC ENSG00000151835 43 0 0.00 29 5 14.71 - - - SEMA4D 0 genome.wustl.edu 37 9 91994113 91994113 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 91994113 91994113 G A SNP SEMA4D ENST00000356444 human ensembl 69_37n -1 known missense c.2095 p.P699S 0.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4D HGNC ENSG00000187764 70 0 0.00 54 14 20.59 - - - SGPL1 0 genome.wustl.edu 37 10 72604392 72604392 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 72604392 72604392 G A SNP SGPL1 ENST00000373202 human ensembl 69_37n +1 known missense c.190 p.E64K 0.998 NULL pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC ENSG00000166224 66 0 0.00 56 14 20.00 - - - SH3GLB1 0 genome.wustl.edu 37 1 87181436 87181436 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 87181436 87181436 G A SNP SH3GLB1 ENST00000482504 human ensembl 69_37n +1 known silent c.102 p.E34 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC ENSG00000097033 47 0 0.00 30 8 21.05 - - - SHPRH 0 genome.wustl.edu 37 6 146256486 146256486 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 146256486 146256486 C T SNP SHPRH ENST00000367503 human ensembl 69_37n -1 known silent c.2661 p.K887 1.000 pfam_SNF2_N pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 52 0 0.00 46 6 11.54 - - - SKI 0 genome.wustl.edu 37 1 2234756 2234756 + Silent SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 2234756 2234756 C G SNP SKI ENST00000378536 human ensembl 69_37n +1 known silent c.1128 p.L376 0.999 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 48 0 0.00 44 16 26.67 - - - SLAMF9 0 genome.wustl.edu 37 1 159921589 159921589 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 159921589 159921589 G C SNP SLAMF9 ENST00000368093 human ensembl 69_37n -1 known missense c.732 p.F244L 0.001 NULL pfam_Ig_V-set,pfscan_Ig-like - no_errors SLAMF9 HGNC ENSG00000162723 58 0 0.00 68 10 12.82 - - - SLC45A3 0 genome.wustl.edu 37 1 205628672 205628672 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 205628672 205628672 C T SNP SLC45A3 ENST00000367145 human ensembl 69_37n -1 known missense c.1352 p.S451N 0.005 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 28 0 0.00 13 6 31.58 - - - SLFN12 0 genome.wustl.edu 37 17 33749892 33749892 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 33749892 33749892 G C SNP SLFN12 ENST00000304905 human ensembl 69_37n -1 known silent c.156 p.L52 0.113 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 39 0 0.00 33 8 19.51 - - - SLMAP 0 genome.wustl.edu 37 3 57835511 57835511 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 57835511 57835511 C G SNP SLMAP ENST00000428312 human ensembl 69_37n +1 known missense c.487 p.Q163E 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 119 0 0.00 99 31 23.85 - - - SMAP1 0 genome.wustl.edu 37 6 71567695 71567695 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 71567695 71567695 G A SNP SMAP1 ENST00000370455 human ensembl 69_37n +1 known silent c.1032 p.S344 0.980 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,prints_ArfGAP,pfscan_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 36 0 0.00 28 11 28.21 - - - SMC3 0 genome.wustl.edu 37 10 112364018 112364018 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 112364018 112364018 G C SNP SMC3 ENST00000361804 human ensembl 69_37n +1 known missense c.3612 p.E1204D 1.000 NULL pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 72 0 0.00 67 12 15.19 - - - SNRPD3 0 genome.wustl.edu 37 22 24967993 24967993 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 24967993 24967993 G A SNP SNRPD3 ENST00000402849 human ensembl 69_37n +1 known silent c.327 p.L109 0.455 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD3 HGNC ENSG00000100028 21 0 0.00 15 10 40.00 - - - SOWAHB 0 genome.wustl.edu 37 4 77817742 77817742 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 77817742 77817742 C G SNP SOWAHB ENST00000334306 human ensembl 69_37n -1 known missense c.1261 p.E421Q 0.250 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHB HGNC ENSG00000186212 23 0 0.00 18 7 28.00 - - - SRGAP1 0 genome.wustl.edu 37 12 64383792 64383792 + Silent SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 64383792 64383792 G C SNP SRGAP1 ENST00000355086 human ensembl 69_37n +1 known silent c.366 p.L122 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 62 0 0.00 53 8 13.11 - - - SRSF10 0 genome.wustl.edu 37 1 24294156 24294156 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 24294156 24294156 G C SNP SRSF10 ENST00000344989 human ensembl 69_37n -1 known missense c.549 p.I183M 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF10 HGNC ENSG00000188529 13 0 0.00 5 4 44.44 - - - SSR1 0 genome.wustl.edu 37 6 7295635 7295635 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 7295635 7295635 C T SNP SSR1 ENST00000244763 human ensembl 69_37n -1 known silent c.783 p.L261 1.000 pfam_TRAP_alpha pfam_TRAP_alpha - no_errors SSR1 HGNC ENSG00000124783 102 0 0.00 84 14 14.29 - - - ST18 0 genome.wustl.edu 37 8 53084928 53084928 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 53084928 53084928 C G SNP ST18 ENST00000276480 human ensembl 69_37n -1 known missense c.493 p.D165H 0.149 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 45 0 0.00 36 17 32.08 - - - ST7L 0 genome.wustl.edu 37 1 113084637 113084637 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 113084637 113084637 G C SNP ST7L ENST00000358039 human ensembl 69_37n -1 known missense c.1565 p.S522C 1.000 pfam_ST7 pfam_ST7 - no_errors ST7L HGNC ENSG00000007341 60 0 0.00 60 12 16.67 - - - STK10 0 genome.wustl.edu 37 5 171488249 171488249 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 171488249 171488249 C G SNP STK10 ENST00000176763 human ensembl 69_37n -1 known missense c.2106 p.Q702H 1.000 pfam_PKK pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK10 HGNC ENSG00000072786 49 0 0.00 74 13 14.94 - - - STK38 0 genome.wustl.edu 37 6 36489522 36489522 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 36489522 36489522 C G SNP STK38 ENST00000229812 human ensembl 69_37n -1 known missense c.379 p.E127Q 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_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38 HGNC ENSG00000112079 52 0 0.00 59 13 18.06 - - - STRADA 0 genome.wustl.edu 37 17 61784684 61784684 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 61784684 61784684 G C SNP STRADA ENST00000336174 human ensembl 69_37n -1 known missense c.676 p.R226G 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADA HGNC ENSG00000266173 45 0 0.00 23 6 20.69 - - - SUDS3 0 genome.wustl.edu 37 12 118821844 118821844 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 118821844 118821844 C T SNP SUDS3 ENST00000397564 human ensembl 69_37n +1 known silent c.240 p.L80 1.000 pfam_Sds3 pfam_Sds3 - no_errors SUDS3 HGNC ENSG00000111707 63 0 0.00 43 14 24.56 - - - SUPT6H 0 genome.wustl.edu 37 17 27009875 27009875 + Splice_Site SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 17 27009875 27009875 G T SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known splice_site c.1727+1 e13+1 1.000 - - - no_errors SUPT6H HGNC ENSG00000109111 39 0 0.00 26 4 13.33 - - - SYNPO 0 genome.wustl.edu 37 5 150028289 150028289 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 150028289 150028289 G A SNP SYNPO ENST00000394243 human ensembl 69_37n +1 known missense c.1184 p.R395K 0.000 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 57 0 0.00 33 8 19.51 - - - SYNPO2 0 genome.wustl.edu 37 4 119951272 119951272 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 119951272 119951272 G A SNP SYNPO2 ENST00000307142 human ensembl 69_37n +1 known missense c.1342 p.E448K 0.995 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 85 0 0.00 65 26 28.57 - - - SYTL5 0 genome.wustl.edu 37 X 37969613 37969613 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 37969613 37969613 C T SNP SYTL5 ENST00000456733 human ensembl 69_37n +1 known nonsense c.1540 p.Q514* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL5 HGNC ENSG00000147041 73 0 0.00 55 19 25.68 - - - TCTN3 0 genome.wustl.edu 37 10 97452730 97452730 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 97452730 97452730 C G SNP TCTN3 ENST00000371217 human ensembl 69_37n -1 known missense c.500 p.R167T 0.998 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN3 HGNC ENSG00000119977 42 0 0.00 45 9 16.67 - - - TDO2 0 genome.wustl.edu 37 4 156825210 156825210 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 156825210 156825210 G C SNP TDO2 ENST00000536354 human ensembl 69_37n +1 known missense c.76 p.D26H 1.000 NULL pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 68 0 0.00 45 6 11.76 - - - TET1 0 genome.wustl.edu 37 10 70450998 70450998 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 70450998 70450998 C T SNP TET1 ENST00000373644 human ensembl 69_37n +1 known silent c.5838 p.L1946 0.033 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 48 0 0.00 29 7 19.44 - - - TFG 0 genome.wustl.edu 37 3 100432575 100432575 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 100432575 100432575 C T SNP TFG ENST00000240851 human ensembl 69_37n +1 known nonsense c.46 p.Q16* 1.000 pfam_OPR_PB1,smart_OPR_PB1 pfam_OPR_PB1,smart_OPR_PB1 - no_errors TFG HGNC ENSG00000114354 54 0 0.00 30 9 23.08 - - - TJP2 0 genome.wustl.edu 37 9 71863199 71863199 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 71863199 71863199 C T SNP TJP2 ENST00000265384 human ensembl 69_37n +1 known missense c.2939 p.S980L 0.001 NULL pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculdens,prints_ZonOcculS2 - no_errors TJP2 HGNC ENSG00000119139 61 0 0.00 47 10 17.54 - - - TMEM232 0 genome.wustl.edu 37 5 109961003 109961003 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 109961003 109961003 C G SNP TMEM232 ENST00000429839 human ensembl 69_37n -1 known missense c.733 p.D245H 0.000 NULL NULL - no_errors TMEM232 HGNC ENSG00000186952 115 0 0.00 104 26 20.00 - - - TMTC2 0 genome.wustl.edu 37 12 83289819 83289819 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 83289819 83289819 G C SNP TMTC2 ENST00000321196 human ensembl 69_37n +1 known missense c.877 p.D293H 1.000 pfam_DUF1736 pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 48 0 0.00 25 6 19.35 - - - TNIP2 0 genome.wustl.edu 37 4 2744211 2744211 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 2744211 2744211 C T SNP TNIP2 ENST00000315423 human ensembl 69_37n -1 known missense c.1063 p.G355R 0.010 NULL pfam_EABR - no_errors TNIP2 HGNC ENSG00000168884 24 0 0.00 15 8 34.78 - - - TOMM34 0 genome.wustl.edu 37 20 43572097 43572097 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 20 43572097 43572097 G A SNP TOMM34 ENST00000372813 human ensembl 69_37n -1 known silent c.822 p.L274 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 106 0 0.00 78 16 17.02 - - - TRAPPC11 0 genome.wustl.edu 37 4 184626159 184626159 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 184626159 184626159 C T SNP TRAPPC11 ENST00000334690 human ensembl 69_37n +1 known silent c.2991 p.I997 0.995 pfam_DUF1683_C pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 59 0 0.00 58 11 15.94 - - - TREML4 0 genome.wustl.edu 37 6 41196523 41196523 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 41196523 41196523 G C SNP TREML4 ENST00000341495 human ensembl 69_37n +1 known missense c.135 p.K45N 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors TREML4 HGNC ENSG00000188056 39 0 0.00 41 12 22.64 - - - TRIM60 0 genome.wustl.edu 37 4 165961497 165961497 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 165961497 165961497 G A SNP TRIM60 ENST00000341062 human ensembl 69_37n +1 known silent c.273 p.Q91 0.038 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 48 0 0.00 40 8 16.67 - - - TRMT13 0 genome.wustl.edu 37 1 100613596 100613596 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 100613596 100613596 G A SNP TRMT13 ENST00000370141 human ensembl 69_37n +1 known missense c.964 p.E322K 0.999 pfam_Methyltransferase_TRM13 pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors TRMT13 HGNC ENSG00000122435 92 0 0.00 43 13 23.21 - - - TRMU 0 genome.wustl.edu 37 22 46746264 46746264 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 22 46746264 46746264 G A SNP TRMU ENST00000290846 human ensembl 69_37n +1 known silent c.555 p.L185 0.973 pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC ENSG00000100416 51 0 0.00 42 10 19.23 - - - TRPM2 0 genome.wustl.edu 37 21 45811159 45811159 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 21 45811159 45811159 C T SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known missense c.1445 p.S482L 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 18 0 0.00 16 6 26.09 - - - TRRAP 0 genome.wustl.edu 37 7 98488014 98488014 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 98488014 98488014 C T SNP TRRAP ENST00000359863 human ensembl 69_37n +1 known silent c.207 p.F69 0.999 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 77 0 0.00 79 16 16.84 - - - TSGA10 0 genome.wustl.edu 37 2 99651728 99651728 + Nonsense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 99651728 99651728 G A SNP TSGA10 ENST00000355053 human ensembl 69_37n -1 known nonsense c.1579 p.R527* 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 45 0 0.00 39 11 22.00 - - - TTN 0 genome.wustl.edu 37 2 179397043 179397043 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 179397043 179397043 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.96595 p.E32199K 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 136 1 0.73 136 25 15.53 - - - TTN 0 genome.wustl.edu 37 2 179425723 179425723 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 179425723 179425723 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.77432 p.A25811V 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 60 0 0.00 82 20 19.61 - - - TTN 0 genome.wustl.edu 37 2 179443670 179443670 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 179443670 179443670 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.60383 p.S20128L 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 48 0 0.00 41 10 19.61 - - - TXLNA 0 genome.wustl.edu 37 1 32653608 32653608 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 32653608 32653608 G C SNP TXLNA ENST00000373609 human ensembl 69_37n +1 known missense c.651 p.Q217H 1.000 pfam_Taxilin pfam_Taxilin - no_errors TXLNA HGNC ENSG00000084652 31 0 0.00 18 5 21.74 - - - UBE4A 0 genome.wustl.edu 37 11 118245696 118245696 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 118245696 118245696 C G SNP UBE4A ENST00000431736 human ensembl 69_37n +1 known missense c.1223 p.S408C 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 39 0 0.00 35 11 23.91 - - - UBR5 0 genome.wustl.edu 37 8 103284880 103284880 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 8 103284880 103284880 C T SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known missense c.6850 p.E2284K 1.000 superfamily_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 54 0 0.00 39 10 20.41 - - - UBXN7 0 genome.wustl.edu 37 3 196088738 196088738 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 196088738 196088738 G C SNP UBXN7 ENST00000296328 human ensembl 69_37n -1 known missense c.1285 p.L429V 1.000 pfam_UBX,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX - no_errors UBXN7 HGNC ENSG00000163960 108 0 0.00 71 12 14.46 - - - UFSP2 0 genome.wustl.edu 37 4 186336952 186336952 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 4 186336952 186336952 C T SNP UFSP2 ENST00000264689 human ensembl 69_37n -1 known missense c.403 p.E135K 1.000 NULL pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 57 0 0.00 45 9 16.67 - - - USH2A 0 genome.wustl.edu 37 1 215853634 215853634 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 215853634 215853634 C G SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.12151 p.E4051Q 0.996 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 72 0 0.00 69 11 13.75 - - - USP25 0 genome.wustl.edu 37 21 17199349 17199349 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 21 17199349 17199349 C T SNP USP25 ENST00000400183 human ensembl 69_37n +1 known missense c.1520 p.S507L 0.344 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP25 HGNC ENSG00000155313 46 0 0.00 53 12 18.46 - - - UTRN 0 genome.wustl.edu 37 6 144835944 144835944 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 144835944 144835944 C G SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.5232 p.I1744M 1.000 pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 55 0 0.00 48 9 15.79 - - - UTRN 0 genome.wustl.edu 37 6 145160371 145160371 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 145160371 145160371 G A SNP UTRN ENST00000367545 human ensembl 69_37n +1 known silent c.10128 p.L3376 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 68 0 0.00 45 13 22.41 - - - VANGL1 0 genome.wustl.edu 37 1 116206759 116206759 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 116206759 116206759 G A SNP VANGL1 ENST00000310260 human ensembl 69_37n +1 known missense c.682 p.D228N 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL1 HGNC ENSG00000173218 75 0 0.00 43 12 21.43 - - - VAT1L 0 genome.wustl.edu 37 16 77913106 77913106 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 77913106 77913106 C T SNP VAT1L ENST00000302536 human ensembl 69_37n +1 known silent c.867 p.F289 0.992 smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 67 0 0.00 72 16 18.18 - - - VPS13A 0 genome.wustl.edu 37 9 79865048 79865048 + Silent SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 9 79865048 79865048 G A SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known silent c.2073 p.V691 0.428 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 68 0 0.00 47 18 27.69 - - - VPS13C 0 genome.wustl.edu 37 15 62256936 62256936 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 62256936 62256936 G A SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.3176 p.S1059L 0.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 48 0 0.00 38 8 17.39 - - - VSTM5 0 genome.wustl.edu 37 11 93554310 93554310 + Nonsense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 93554310 93554310 G A SNP VSTM5 ENST00000409977 human ensembl 69_37n -1 known nonsense c.271 p.Q91* 0.013 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub - no_errors VSTM5 HGNC ENSG00000214376 144 0 0.00 101 15 12.93 - - - VTCN1 0 genome.wustl.edu 37 1 117690304 117690304 + Silent SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 117690304 117690304 G T SNP VTCN1 ENST00000359008 human ensembl 69_37n -1 known silent c.834 p.L278 0.222 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors VTCN1 HGNC ENSG00000134258 79 0 0.00 64 11 14.67 - - - VWC2L 0 genome.wustl.edu 37 2 215301441 215301441 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 2 215301441 215301441 C G SNP VWC2L ENST00000312504 human ensembl 69_37n +1 known missense c.479 p.P160R 1.000 smart_VWF_C,pfscan_VWF_C smart_VWF_C,pfscan_VWF_C - no_errors VWC2L HGNC ENSG00000174453 52 0 0.00 60 9 13.04 - - - WBSCR28 0 genome.wustl.edu 37 7 73279648 73279648 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 73279648 73279648 C T SNP WBSCR28 ENST00000320531 human ensembl 69_37n +1 known missense c.398 p.S133L 0.002 NULL NULL - no_errors WBSCR28 HGNC ENSG00000175877 97 0 0.00 66 10 13.16 - - - WDFY4 0 genome.wustl.edu 37 10 50171988 50171988 + Missense_Mutation SNP C C A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 10 50171988 50171988 C A SNP WDFY4 ENST00000312002 human ensembl 69_37n +1 known missense c.5596 p.L1866I 0.980 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WDFY4 HGNC ENSG00000128815 50 0 0.00 43 12 21.82 - - - WDR66 0 genome.wustl.edu 37 12 122395019 122395019 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 12 122395019 122395019 C G SNP WDR66 ENST00000288912 human ensembl 69_37n +1 known missense c.1575 p.F525L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 57 0 0.00 53 12 18.46 - - - WDR87 0 genome.wustl.edu 37 19 38385971 38385971 + Nonsense_Mutation SNP G G T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 38385971 38385971 G T SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known nonsense c.372 p.Y124* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 103 0 0.00 64 14 17.95 - - - WDR93 0 genome.wustl.edu 37 15 90281436 90281436 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 15 90281436 90281436 G A SNP WDR93 ENST00000268130 human ensembl 69_37n +1 known missense c.1930 p.E644K 0.441 NULL superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 57 0 0.00 33 12 26.67 - - - WT1 0 genome.wustl.edu 37 11 32413552 32413552 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 32413552 32413552 C T SNP WT1 ENST00000527882 human ensembl 69_37n -1 novel missense c.379 p.E127K 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WT1 HGNC ENSG00000184937 60 0 0.00 52 7 11.86 - - - YEATS2 0 genome.wustl.edu 37 3 183435461 183435461 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 3 183435461 183435461 G C SNP YEATS2 ENST00000305135 human ensembl 69_37n +1 known missense c.123 p.K41N 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 64 0 0.00 66 15 18.52 - - - YTHDF2 0 genome.wustl.edu 37 1 29064088 29064088 + RNA SNP C C A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 29064088 29064088 C A SNP YTHDF2 ENST00000478283 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors YTHDF2 HGNC ENSG00000198492 60 0 0.00 45 7 13.46 - - - ZBTB41 0 genome.wustl.edu 37 1 197128914 197128914 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 197128914 197128914 C G SNP ZBTB41 ENST00000367405 human ensembl 69_37n -1 known missense c.2305 p.E769Q 0.950 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 81 0 0.00 116 22 15.94 - - - ZC3H14 0 genome.wustl.edu 37 14 89073594 89073594 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 14 89073594 89073594 G A SNP ZC3H14 ENST00000251038 human ensembl 69_37n +1 known missense c.1755 p.M585I 1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 72 0 0.00 55 7 10.94 - - - ZCWPW1 0 genome.wustl.edu 37 7 100014011 100014011 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 100014011 100014011 G A SNP ZCWPW1 ENST00000398027 human ensembl 69_37n -1 known missense c.548 p.T183I 0.006 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 85 0 0.00 98 12 10.91 - - - ZMYM3 0 genome.wustl.edu 37 X 70462260 70462260 + Nonsense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 70462260 70462260 G A SNP ZMYM3 ENST00000373988 human ensembl 69_37n -1 known nonsense c.3568 p.R1190* 1.000 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 22 0 0.00 18 6 25.00 - - - ZNF138 0 genome.wustl.edu 37 7 64276007 64276007 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 7 64276007 64276007 G C SNP ZNF138 ENST00000359735 human ensembl 69_37n +1 known missense c.13 p.E5Q 0.353 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF138 HGNC ENSG00000197008 133 0 0.00 86 17 16.50 - - - ZNF263 0 genome.wustl.edu 37 16 3339713 3339713 + Missense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 3339713 3339713 G A SNP ZNF263 ENST00000219069 human ensembl 69_37n +1 known missense c.1207 p.E403K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF263 HGNC ENSG00000006194 35 0 0.00 31 5 13.89 - - - ZNF280C 0 genome.wustl.edu 37 X 129380918 129380918 + Silent SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 X 129380918 129380918 C T SNP ZNF280C ENST00000370978 human ensembl 69_37n -1 known silent c.93 p.Q31 0.997 NULL smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 169 0 0.00 178 29 14.01 - - - ZNF415 0 genome.wustl.edu 37 19 53612984 53612984 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 53612984 53612984 C G SNP ZNF415 ENST00000448501 human ensembl 69_37n -1 known missense c.458 p.R153T 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 74 0 0.00 70 23 24.73 - - - ZNF431 0 genome.wustl.edu 37 19 21365779 21365779 + Missense_Mutation SNP A A G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 21365779 21365779 A G SNP ZNF431 ENST00000311048 human ensembl 69_37n +1 known missense c.673 p.I225V 0.899 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 ZNF431 HGNC ENSG00000196705 37 0 0.00 9 6 40.00 - - - ZNF646 0 genome.wustl.edu 37 16 31094355 31094355 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 16 31094355 31094355 C T SNP ZNF646 ENST00000300850 human ensembl 69_37n +1 known missense c.5441 p.T1814M 0.456 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 22 0 0.00 23 6 20.69 - - - ZNF669 0 genome.wustl.edu 37 1 247265074 247265074 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 247265074 247265074 C T SNP ZNF669 ENST00000366501 human ensembl 69_37n -1 putative missense c.146 p.R49K 0.996 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF669 HGNC ENSG00000188295 46 0 0.00 60 8 11.76 - - - ZNF692 0 genome.wustl.edu 37 1 249152047 249152047 + Nonsense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 1 249152047 249152047 G C SNP ZNF692 ENST00000451251 human ensembl 69_37n -1 known nonsense c.206 p.S69* 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 35 0 0.00 20 6 22.22 - - - ZNF705E 0 genome.wustl.edu 37 11 71527949 71527949 + RNA SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 11 71527949 71527949 G A SNP ZNF705E ENST00000525199 human ensembl 69_37n -1 known rna NULL NULL 0.819 - - - no_errors ZNF705E HGNC ENSG00000214534 55 0 0.00 40 8 16.67 - - - ZNF790 0 genome.wustl.edu 37 19 37314208 37314208 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 37314208 37314208 C T SNP ZNF790 ENST00000356725 human ensembl 69_37n -1 known missense c.208 p.E70K 0.000 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 ZNF790 HGNC ENSG00000197863 68 0 0.00 40 8 16.67 - - - ZNF792 0 genome.wustl.edu 37 19 35449354 35449354 + Nonsense_Mutation SNP G G A TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 19 35449354 35449354 G A SNP ZNF792 ENST00000404801 human ensembl 69_37n -1 known nonsense c.1405 p.Q469* 0.944 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 ZNF792 HGNC ENSG00000180884 47 0 0.00 42 8 16.00 - - - ZRSR1 0 genome.wustl.edu 37 5 112228363 112228363 + Missense_Mutation SNP G G C TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 5 112228363 112228363 G C SNP ZRSR1 ENST00000391338 human ensembl 69_37n +1 known missense c.1027 p.E343Q 1.000 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 46 0 0.00 37 14 27.45 - - - ZSCAN23 0 genome.wustl.edu 37 6 28402580 28402580 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ce4179d3-b31d-4242-8ec1-f6785f9af2e1 b0e8676c-6f2d-4691-96c5-b323dded9687 6 28402580 28402580 C G SNP ZSCAN23 ENST00000289788 human ensembl 69_37n -1 known missense c.832 p.E278Q 0.073 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 39 0 0.00 42 8 16.00 - - -