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 ABCC2 0 genome.wustl.edu 37 10 101611335 101611335 + Missense_Mutation SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 101611335 101611335 T C SNP ABCC2 ENST00000370449 human ensembl 69_37n +1 known missense c.4585 p.Y1529H 0.856 pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 154 0 0.00 96 29 23.20 - - - ACSM2B 0 genome.wustl.edu 37 16 20576155 20576155 + Nonsense_Mutation SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 16 20576155 20576155 G A SNP ACSM2B ENST00000329697 human ensembl 69_37n -1 known nonsense c.13 p.R5* 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 151 1 0.66 105 31 22.79 - - - ADRBK2 0 genome.wustl.edu 37 22 26100079 26100079 + Missense_Mutation SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 22 26100079 26100079 G A SNP ADRBK2 ENST00000324198 human ensembl 69_37n +1 known missense c.1231 p.V411M 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_Regulat_G_prot_signal,pfam_Pleckstrin_homology,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,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC ENSG00000100077 137 0 0.00 105 17 13.93 - - - AFF1 0 genome.wustl.edu 37 4 88029327 88029327 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 4 88029327 88029327 C T SNP AFF1 ENST00000395146 human ensembl 69_37n +1 known missense c.1393 p.P465S 0.169 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 165 0 0.00 94 18 16.07 - - - AGAP5 0 genome.wustl.edu 37 10 75435825 75435825 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 75435825 75435825 G T SNP AGAP5 ENST00000374094 human ensembl 69_37n -1 known missense c.593 p.T198N 0.996 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 171 0 0.00 194 32 14.16 - - - AHI1 0 genome.wustl.edu 37 6 135776985 135776985 + Missense_Mutation SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 6 135776985 135776985 T C SNP AHI1 ENST00000265602 human ensembl 69_37n -1 known missense c.1231 p.K411E 1.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 89 0 0.00 117 20 14.60 - - - ANKRD27 0 genome.wustl.edu 37 19 33090934 33090934 + Silent SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 19 33090934 33090934 T C SNP ANKRD27 ENST00000306065 human ensembl 69_37n -1 known silent c.2790 p.L930 0.179 NULL pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 139 0 0.00 87 28 24.35 - - - ARHGAP35 0 genome.wustl.edu 37 19 47422145 47422145 + Silent SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 19 47422145 47422145 C T SNP ARHGAP35 ENST00000404338 human ensembl 69_37n +1 known silent c.213 p.D71 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 102 0 0.00 56 23 29.11 - - - ARHGEF28 0 genome.wustl.edu 37 5 73153573 73153573 + Missense_Mutation SNP A A G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 5 73153573 73153573 A G SNP ARHGEF28 ENST00000545377 human ensembl 69_37n +1 known missense c.1883 p.N628S 1.000 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 99 0 0.00 88 22 20.00 - - - ARL8B 0 genome.wustl.edu 37 3 5220352 5220352 + Missense_Mutation SNP T T G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 3 5220352 5220352 T G SNP ARL8B ENST00000256496 human ensembl 69_37n +1 known missense c.515 p.I172S 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL8B HGNC ENSG00000134108 325 0 0.00 390 60 13.30 - - - ARMC12 0 genome.wustl.edu 37 6 35704942 35704942 + Silent SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 6 35704942 35704942 C T SNP ARMC12 ENST00000288065 human ensembl 69_37n +1 known silent c.57 p.V19 0.943 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ENSG00000157343 83 0 0.00 66 14 17.50 - - - ASTN1 0 genome.wustl.edu 37 1 176857332 176857332 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 176857332 176857332 C A SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known missense c.2973 p.Q991H 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 77 0 0.00 57 8 12.31 - - - ATP8B4 0 genome.wustl.edu 37 15 50226338 50226338 + Missense_Mutation SNP A A T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 15 50226338 50226338 A T SNP ATP8B4 ENST00000284509 human ensembl 69_37n -1 known missense c.1329 p.D443E 0.006 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl 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 ATP8B4 HGNC ENSG00000104043 147 1 0.68 101 37 26.81 - - - C10orf129 0 genome.wustl.edu 37 10 96967145 96967145 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 96967145 96967145 G T SNP C10orf129 ENST00000341686 human ensembl 69_37n +1 known missense c.584 p.G195V 0.921 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors C10orf129 HGNC ENSG00000173124 78 0 0.00 73 34 31.78 - - - C10orf68 0 genome.wustl.edu 37 10 32977992 32977992 + Nonsense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 32977992 32977992 G T SNP C10orf68 ENST00000375025 human ensembl 69_37n +1 known nonsense c.166 p.E56* 0.001 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 109 1 0.91 158 32 16.75 - - - C12orf50 0 genome.wustl.edu 37 12 88380088 88380088 + Splice_Site SNP C C G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 12 88380088 88380088 C G SNP C12orf50 ENST00000298699 human ensembl 69_37n -1 known splice_site c.922+1 e9+1 1.000 - - - no_errors C12orf50 HGNC ENSG00000165805 229 0 0.00 211 43 16.93 - - - C14orf166B 0 genome.wustl.edu 37 14 77319604 77319604 + Missense_Mutation SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 14 77319604 77319604 G A SNP C14orf166B ENST00000393774 human ensembl 69_37n +1 known missense c.859 p.G287R 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 150 0 0.00 62 14 18.42 - - - C17orf97 0 genome.wustl.edu 37 17 262995 262995 + Missense_Mutation SNP A A T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 17 262995 262995 A T SNP C17orf97 ENST00000360127 human ensembl 69_37n +1 known missense c.361 p.I121F 0.974 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 182 1 0.55 88 25 22.12 - - - C5orf65 0 genome.wustl.edu 37 5 138729040 138729040 + Silent SNP C C G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 5 138729040 138729040 C G SNP C5orf65 ENST00000434752 human ensembl 69_37n -1 known silent c.1731 p.G577 0.001 NULL NULL - no_errors C5orf65 HGNC ENSG00000228672 33 0 0.00 18 10 35.71 - - - CD5L 0 genome.wustl.edu 37 1 157804422 157804422 + Missense_Mutation SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 157804422 157804422 T C SNP CD5L ENST00000368174 human ensembl 69_37n -1 known missense c.493 p.T165A 0.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors CD5L HGNC ENSG00000073754 87 0 0.00 57 12 17.39 - - - CDC37L1 0 genome.wustl.edu 37 9 4684908 4684908 + Missense_Mutation SNP A A G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 9 4684908 4684908 A G SNP CDC37L1 ENST00000381854 human ensembl 69_37n +1 known missense c.164 p.Q55R 1.000 NULL pfam_Cdc37_Hsp90-bd - no_errors CDC37L1 HGNC ENSG00000106993 253 0 0.00 148 41 21.69 - - - CDH23 0 genome.wustl.edu 37 10 73572580 73572580 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 73572580 73572580 G T SNP CDH23 ENST00000224721 human ensembl 69_37n +1 known missense c.9575 p.R3192L 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH23 HGNC ENSG00000107736 62 0 0.00 67 8 10.67 - - - CHGB 0 genome.wustl.edu 37 20 5904477 5904477 + Missense_Mutation SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 20 5904477 5904477 T C SNP CHGB ENST00000378961 human ensembl 69_37n +1 known missense c.1687 p.F563L 1.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 56 0 0.00 44 13 22.81 - - - CHI3L1 0 genome.wustl.edu 37 1 203154456 203154456 + Missense_Mutation SNP T T A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 203154456 203154456 T A SNP CHI3L1 ENST00000255409 human ensembl 69_37n -1 known missense c.113 p.D38V 0.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 114 0 0.00 138 17 10.97 - - - CLDN19 0 genome.wustl.edu 37 1 43200803 43200803 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 43200803 43200803 G T SNP CLDN19 ENST00000296387 human ensembl 69_37n -1 known missense c.629 p.P210Q 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN19 HGNC ENSG00000164007 240 0 0.00 148 25 14.45 - - - CLN3 0 genome.wustl.edu 37 16 28493806 28493806 + Missense_Mutation SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 16 28493806 28493806 G C SNP CLN3 ENST00000359984 human ensembl 69_37n -1 known missense c.898 p.Q300E 1.000 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 100 0 0.00 41 22 34.92 - - - COL15A1 0 genome.wustl.edu 37 9 101759318 101759318 + Missense_Mutation SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 9 101759318 101759318 G C SNP COL15A1 ENST00000375001 human ensembl 69_37n +1 known missense c.907 p.E303Q 0.011 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 185 0 0.00 119 24 16.78 - - - COL17A1 0 genome.wustl.edu 37 10 105798207 105798207 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 105798207 105798207 G T SNP COL17A1 ENST00000353479 human ensembl 69_37n -1 known missense c.3027 p.S1009R 0.997 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 11 0 0.00 9 6 40.00 - - - COL4A5 0 genome.wustl.edu 37 X 107924995 107924995 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed X 107924995 107924995 C T SNP COL4A5 ENST00000328300 human ensembl 69_37n +1 known missense c.4093 p.P1365S 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 344 0 0.00 176 52 22.81 - - - COMP 0 genome.wustl.edu 37 19 18900027 18900027 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 19 18900027 18900027 C T SNP COMP ENST00000222271 human ensembl 69_37n -1 known missense c.470 p.G157E 0.995 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 10 0 0.00 10 7 41.18 - - - CSTF3 0 genome.wustl.edu 37 11 33106715 33106715 + Missense_Mutation SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 11 33106715 33106715 G A SNP CSTF3 ENST00000323959 human ensembl 69_37n -1 known missense c.2072 p.S691L 0.998 NULL pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 119 0 0.00 113 17 13.08 - - - DNAH2 0 genome.wustl.edu 37 17 7662906 7662906 + Missense_Mutation SNP A A G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 17 7662906 7662906 A G SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known missense c.2615 p.D872G 0.969 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 153 0 0.00 70 29 29.29 - - - DNAH5 0 genome.wustl.edu 37 5 13866371 13866371 + Silent SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 5 13866371 13866371 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known silent c.4074 p.G1358 0.994 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 56 0 0.00 77 40 33.90 - - - DNAH5 0 genome.wustl.edu 37 5 13902205 13902205 + Missense_Mutation SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 5 13902205 13902205 G C SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known missense c.1687 p.Q563E 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 119 0 0.00 144 130 47.45 - - - DOCK3 0 genome.wustl.edu 37 3 51378786 51378786 + Silent SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 3 51378786 51378786 G T SNP DOCK3 ENST00000266037 human ensembl 69_37n +1 known silent c.3885 p.R1295 0.666 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 85 0 0.00 58 16 21.62 - - - EFEMP1 0 genome.wustl.edu 37 2 56144946 56144946 + Frame_Shift_Del DEL G G - TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 2 56144946 56144946 G - DEL EFEMP1 ENST00000355426 human ensembl 69_37n -1 known frame_shift_del c.371 p.A124fs 0.986 NULL pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 74 0 0.00 82 29 25.66 - - - EFEMP1 0 genome.wustl.edu 37 2 56144947 56144947 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 2 56144947 56144947 C A SNP EFEMP1 ENST00000355426 human ensembl 69_37n -1 known missense c.370 p.A124S 0.992 NULL pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 74 0 0.00 82 30 26.79 - - - EFHC1 0 genome.wustl.edu 37 6 52303141 52303141 + Missense_Mutation SNP A A G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 6 52303141 52303141 A G SNP EFHC1 ENST00000371068 human ensembl 69_37n +1 known missense c.325 p.M109V 0.000 smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC1 HGNC ENSG00000096093 70 0 0.00 67 14 17.07 - - - EGFLAM 0 genome.wustl.edu 37 5 38431296 38431296 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 5 38431296 38431296 C A SNP EGFLAM ENST00000354891 human ensembl 69_37n +1 known missense c.2072 p.T691N 0.485 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 211 0 0.00 81 45 35.71 - - - ELOVL3 0 genome.wustl.edu 37 10 103988973 103988973 + Missense_Mutation SNP C C G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 103988973 103988973 C G SNP ELOVL3 ENST00000370005 human ensembl 69_37n +1 known missense c.777 p.I259M 0.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL3 HGNC ENSG00000119915 180 0 0.00 81 37 31.36 - - - EMC1 0 genome.wustl.edu 37 1 19545923 19545923 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 19545923 19545923 C T SNP EMC1 ENST00000486405 human ensembl 69_37n -1 putative missense c.524 p.S175N 1.000 NULL pfam_DUF1620 - no_start_codon EMC1 HGNC ENSG00000127463 112 0 0.00 65 14 17.72 - - - ENSG00000260861 0 genome.wustl.edu 37 20 1538282 1538282 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 20 1538282 1538282 G T SNP ENSG00000260861 ENST00000566961 human ensembl 69_37n -1 putative missense c.319 p.P107T 0.001 NULL pfam_Ig_V-set - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RP4-576H24.4 Clone_based_vega_gene ENSG00000260861 300 1 0.33 152 34 18.28 - - - ERMAP 0 genome.wustl.edu 37 1 43296678 43296678 + Missense_Mutation SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 43296678 43296678 G A SNP ERMAP ENST00000372514 human ensembl 69_37n +1 known missense c.325 p.V109I 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors ERMAP HGNC ENSG00000164010 147 0 0.00 92 15 14.02 - - - FAM155B 0 genome.wustl.edu 37 X 68725887 68725887 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed X 68725887 68725887 C A SNP FAM155B ENST00000252338 human ensembl 69_37n +1 known missense c.762 p.D254E 1.000 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 52 0 0.00 24 14 36.84 - - - FAM161A 0 genome.wustl.edu 37 2 62081050 62081050 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 2 62081050 62081050 C T SNP FAM161A ENST00000405894 human ensembl 69_37n -1 known missense c.127 p.E43K 0.001 NULL pfam_UPF0564 - no_errors FAM161A HGNC ENSG00000170264 50 0 0.00 40 6 13.04 - - - FAM217A 0 genome.wustl.edu 37 6 4073690 4073690 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 6 4073690 4073690 C T SNP FAM217A ENST00000274673 human ensembl 69_37n -1 known missense c.211 p.V71M 0.123 NULL NULL - no_errors FAM217A HGNC ENSG00000145975 185 0 0.00 239 46 16.14 - - - FAM21A 0 genome.wustl.edu 37 10 51859751 51859751 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 51859751 51859751 C A SNP FAM21A ENST00000282633 human ensembl 69_37n +1 known missense c.1562 p.S521Y 0.717 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 57 0 0.00 79 16 16.84 - - - FBXO34 0 genome.wustl.edu 37 14 55819095 55819095 + Missense_Mutation SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 14 55819095 55819095 G C SNP FBXO34 ENST00000313833 human ensembl 69_37n +1 known missense c.1987 p.G663R 1.000 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC ENSG00000178974 79 0 0.00 48 37 43.53 - - - FLNB 0 genome.wustl.edu 37 3 58124079 58124079 + Silent SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 3 58124079 58124079 G C SNP FLNB ENST00000295956 human ensembl 69_37n +1 known silent c.4932 p.G1644 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 FLNB HGNC ENSG00000136068 124 0 0.00 42 15 26.32 - - - HAUS5 0 genome.wustl.edu 37 19 36104782 36104782 + Missense_Mutation SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 19 36104782 36104782 G C SNP HAUS5 ENST00000203166 human ensembl 69_37n +1 known missense c.174 p.K58N 1.000 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 145 0 0.00 104 19 15.45 - - - HELZ 0 genome.wustl.edu 37 17 65103686 65103686 + Missense_Mutation SNP T T G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 17 65103686 65103686 T G SNP HELZ ENST00000358691 human ensembl 69_37n -1 known missense c.4840 p.S1614R 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 369 0 0.00 201 39 16.25 - - - HS6ST1 0 genome.wustl.edu 37 2 129026227 129026227 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 2 129026227 129026227 G T SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.745 p.R249S 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 14 0 0.00 12 4 25.00 - - - HSDL2 0 genome.wustl.edu 37 9 115221807 115221807 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 9 115221807 115221807 C T SNP HSDL2 ENST00000398805 human ensembl 69_37n +1 known missense c.1094 p.A365V 0.954 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC ENSG00000119471 437 1 0.23 318 49 13.35 - - - IGSF10 0 genome.wustl.edu 37 3 151154674 151154674 + Missense_Mutation SNP C C G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 3 151154674 151154674 C G SNP IGSF10 ENST00000282466 human ensembl 69_37n -1 known missense c.7675 p.E2559Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC ENSG00000152580 70 0 0.00 48 32 40.00 - - - IL22 0 genome.wustl.edu 37 12 68647221 68647221 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 12 68647221 68647221 G T SNP IL22 ENST00000328087 human ensembl 69_37n -1 known missense c.8 p.A3D 0.663 NULL superfamily_4_helix_cytokine-like_core,prints_Interleukin-22,prints_Interleukin-24 - no_errors IL22 HGNC ENSG00000127318 67 0 0.00 58 10 14.71 - - - ITGB1 0 genome.wustl.edu 37 10 33199265 33199265 + Missense_Mutation SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 33199265 33199265 G C SNP ITGB1 ENST00000374956 human ensembl 69_37n -1 known missense c.2050 p.Q684E 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 137 1 0.72 89 44 33.08 - - - ITLN1 0 genome.wustl.edu 37 1 160850397 160850397 + Silent SNP A A G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 160850397 160850397 A G SNP ITLN1 ENST00000326245 human ensembl 69_37n -1 known silent c.666 p.Y222 0.981 superfamily_Fibrinogen_a/b/g_C superfamily_Fibrinogen_a/b/g_C - no_errors ITLN1 HGNC ENSG00000179914 114 0 0.00 156 22 12.36 - - - IVL 0 genome.wustl.edu 37 1 152883341 152883341 + Silent SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 152883341 152883341 G T SNP IVL ENST00000368764 human ensembl 69_37n +1 known silent c.1068 p.L356 0.007 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 61 0 0.00 63 9 12.50 - - - KDR 0 genome.wustl.edu 37 4 55979642 55979642 + Missense_Mutation SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 4 55979642 55979642 G A SNP KDR ENST00000263923 human ensembl 69_37n -1 known missense c.805 p.H269Y 0.020 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC ENSG00000128052 215 1 0.46 170 42 19.81 - - - KIAA0913 0 genome.wustl.edu 37 10 75556956 75556956 + Missense_Mutation SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 75556956 75556956 G C SNP KIAA0913 ENST00000398706 human ensembl 69_37n +1 known missense c.3360 p.L1120F 1.000 NULL pfscan_Znf_SWIM - no_errors KIAA0913 HGNC ENSG00000214655 60 0 0.00 87 21 19.44 - - - KRTAP6-1 0 genome.wustl.edu 37 21 31986039 31986039 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 21 31986039 31986039 C A SNP KRTAP6-1 ENST00000329122 human ensembl 69_37n -1 known missense c.185 p.G62V 0.865 NULL NULL - no_errors KRTAP6-1 HGNC ENSG00000184724 252 1 0.40 87 32 26.89 - - - LGALS3 0 genome.wustl.edu 37 14 55605046 55605046 + Missense_Mutation SNP A A C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 14 55605046 55605046 A C SNP LGALS3 ENST00000254301 human ensembl 69_37n +1 known missense c.302 p.Y101S 1.000 NULL pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS3 HGNC ENSG00000131981 8 0 0.00 3 6 66.67 - - - LIMA1 0 genome.wustl.edu 37 12 50571618 50571618 + Silent SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 12 50571618 50571618 G T SNP LIMA1 ENST00000394943 human ensembl 69_37n -1 known silent c.1512 p.V504 0.999 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 144 0 0.00 126 35 21.74 - - - LRRC29 0 genome.wustl.edu 37 16 67241593 67241593 + Missense_Mutation SNP A A C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 16 67241593 67241593 A C SNP LRRC29 ENST00000341546 human ensembl 69_37n -1 known missense c.587 p.V196G 0.976 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp - no_errors LRRC29 HGNC ENSG00000125122 42 0 0.00 16 9 36.00 - - - LRRC49 0 genome.wustl.edu 37 15 71211475 71211475 + Silent SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 15 71211475 71211475 T C SNP LRRC49 ENST00000260382 human ensembl 69_37n +1 known silent c.654 p.L218 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 319 1 0.31 194 71 26.79 - - - MACF1 0 genome.wustl.edu 37 1 39907664 39907664 + Missense_Mutation SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 39907664 39907664 G A SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.12536 p.C4179Y 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 304 0 0.00 207 47 18.50 - - - MCOLN1 0 genome.wustl.edu 37 19 7592840 7592840 + Silent SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 19 7592840 7592840 C T SNP MCOLN1 ENST00000264079 human ensembl 69_37n +1 known silent c.771 p.S257 0.721 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 58 0 0.00 64 10 13.51 - - - MMP9 0 genome.wustl.edu 37 20 44639873 44639873 + Silent SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 20 44639873 44639873 C T SNP MMP9 ENST00000372330 human ensembl 69_37n +1 known silent c.741 p.D247 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP9 HGNC ENSG00000100985 21 0 0.00 24 7 22.58 - - - MYH10 0 genome.wustl.edu 37 17 8396156 8396156 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 17 8396156 8396156 C T SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known missense c.4366 p.D1456N 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 47 0 0.00 15 29 65.91 - - - MYH9 0 genome.wustl.edu 37 22 36689868 36689868 + Silent SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 22 36689868 36689868 G A SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known silent c.3879 p.D1293 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 68 0 0.00 39 10 20.41 - - - MYL12B 0 genome.wustl.edu 37 18 3277358 3277358 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 18 3277358 3277358 G T SNP MYL12B ENST00000237500 human ensembl 69_37n +1 known missense c.292 p.D98Y 1.000 pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12B HGNC ENSG00000118680 123 0 0.00 104 28 21.21 - - - NEK10 0 genome.wustl.edu 37 3 27394317 27394317 + Missense_Mutation SNP T T G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 3 27394317 27394317 T G SNP NEK10 ENST00000341435 human ensembl 69_37n -1 known missense c.57 p.Q19H 0.993 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NEK10 HGNC ENSG00000163491 385 0 0.00 283 130 31.48 - - - NFATC3 0 genome.wustl.edu 37 16 68156087 68156087 + Missense_Mutation SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 16 68156087 68156087 G C SNP NFATC3 ENST00000346183 human ensembl 69_37n +1 known missense c.301 p.G101R 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 210 0 0.00 173 45 20.64 - - - NRD1 0 genome.wustl.edu 37 1 52344078 52344078 + Missense_Mutation SNP C C G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 52344078 52344078 C G SNP NRD1 ENST00000354831 human ensembl 69_37n -1 known missense c.210 p.Q70H 1.000 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors NRD1 HGNC ENSG00000078618 65 0 0.00 43 5 10.42 - - - NRF1 0 genome.wustl.edu 37 7 129297253 129297253 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 7 129297253 129297253 C T SNP NRF1 ENST00000393231 human ensembl 69_37n +1 known missense c.62 p.A21V 1.000 NULL pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd - no_errors NRF1 HGNC ENSG00000106459 83 0 0.00 59 14 19.18 - - - ODF2 0 genome.wustl.edu 37 9 131247725 131247725 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 9 131247725 131247725 C A SNP ODF2 ENST00000372796 human ensembl 69_37n +1 known missense c.1372 p.L458I 0.998 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 181 0 0.00 88 24 21.43 - - - OR2AE1 0 genome.wustl.edu 37 7 99474106 99474106 + Missense_Mutation SNP A A C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 7 99474106 99474106 A C SNP OR2AE1 ENST00000316368 human ensembl 69_37n -1 known missense c.551 p.V184G 0.010 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 OR2AE1 HGNC ENSG00000244623 83 0 0.00 70 9 11.39 - - - OR2M2 0 genome.wustl.edu 37 1 248343859 248343859 + Missense_Mutation SNP A A G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 248343859 248343859 A G SNP OR2M2 ENST00000359682 human ensembl 69_37n +1 known missense c.572 p.D191G 0.003 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 305 0 0.00 436 60 12.10 - - - OR4C12 0 genome.wustl.edu 37 11 50003128 50003129 + Frame_Shift_Ins INS - - T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 11 50003128 50003129 - T INS OR4C12 ENST00000335238 human ensembl 69_37n -1 known frame_shift_ins c.910_909 p.V303fs 0.980:0.987 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4C12 HGNC ENSG00000221954 101 0 0.00 141 19 11.88 - - - OR7D4 0 genome.wustl.edu 37 19 9324928 9324928 + Missense_Mutation SNP T T A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 19 9324928 9324928 T A SNP OR7D4 ENST00000308682 human ensembl 69_37n -1 known missense c.586 p.N196Y 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 67 0 0.00 60 26 30.23 - - - PAK2 0 genome.wustl.edu 37 3 196509620 196509620 + Missense_Mutation SNP C C G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 3 196509620 196509620 C G SNP PAK2 ENST00000327134 human ensembl 69_37n +1 known missense c.103 p.H35D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK2 HGNC ENSG00000180370 83 0 0.00 121 21 14.69 - - - PEX14 0 genome.wustl.edu 37 1 10678420 10678420 + Silent SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 10678420 10678420 C T SNP PEX14 ENST00000356607 human ensembl 69_37n +1 known silent c.330 p.G110 0.581 pfam_Pex14_N pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 53 0 0.00 17 9 34.62 - - - PGBD4 0 genome.wustl.edu 37 15 34395268 34395268 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 15 34395268 34395268 C A SNP PGBD4 ENST00000397766 human ensembl 69_37n +1 known missense c.536 p.T179K 0.265 NULL NULL - no_errors PGBD4 HGNC ENSG00000182405 182 1 0.54 98 34 25.76 - - - PIK3C2G 0 genome.wustl.edu 37 12 18435045 18435045 + Silent SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 12 18435045 18435045 T C SNP PIK3C2G ENST00000538779 human ensembl 69_37n +1 known silent c.30 p.N10 0.043 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 148 0 0.00 56 16 22.22 - - - PKD1L1 0 genome.wustl.edu 37 7 47897212 47897212 + Silent SNP A A G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 7 47897212 47897212 A G SNP PKD1L1 ENST00000289672 human ensembl 69_37n -1 known silent c.4581 p.A1527 0.027 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 66 0 0.00 62 12 16.22 - - - PKHD1L1 0 genome.wustl.edu 37 8 110441588 110441588 + Missense_Mutation SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 8 110441588 110441588 T C SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.3020 p.I1007T 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 171 0 0.00 236 47 16.61 - - - PLEKHG1 0 genome.wustl.edu 37 6 151055039 151055039 + Silent SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 6 151055039 151055039 G A SNP PLEKHG1 ENST00000358517 human ensembl 69_37n +1 known silent c.222 p.T74 0.011 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 38 0 0.00 32 11 25.58 - - - PLOD2 0 genome.wustl.edu 37 3 145841966 145841966 + Nonsense_Mutation SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 3 145841966 145841966 G A SNP PLOD2 ENST00000282903 human ensembl 69_37n -1 known nonsense c.160 p.R54* 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 345 0 0.00 261 51 16.35 - - - PTGDR 0 genome.wustl.edu 37 14 52735064 52735064 + Missense_Mutation SNP T T G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 14 52735064 52735064 T G SNP PTGDR ENST00000306051 human ensembl 69_37n +1 known missense c.532 p.C178G 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Prostanoid_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 63 0 0.00 44 22 33.33 - - - RANGAP1 0 genome.wustl.edu 37 22 41652046 41652046 + Missense_Mutation SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 22 41652046 41652046 G A SNP RANGAP1 ENST00000356244 human ensembl 69_37n -1 known missense c.1052 p.A351V 0.897 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 26 0 0.00 25 16 39.02 - - - RUNX1T1 0 genome.wustl.edu 37 8 92982889 92982889 + Silent SNP G G A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 8 92982889 92982889 G A SNP RUNX1T1 ENST00000436581 human ensembl 69_37n -1 known silent c.1569 p.S523 0.962 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 95 0 0.00 89 17 16.04 - - - SEMG2 0 genome.wustl.edu 37 20 43851144 43851144 + Missense_Mutation SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 20 43851144 43851144 T C SNP SEMG2 ENST00000372769 human ensembl 69_37n +1 known missense c.871 p.S291P 0.001 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 138 0 0.00 138 27 16.36 - - - SLC29A1 0 genome.wustl.edu 37 6 44195040 44195040 + Missense_Mutation SNP A A G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 6 44195040 44195040 A G SNP SLC29A1 ENST00000313248 human ensembl 69_37n +1 known missense c.227 p.N76S 0.000 NULL pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC ENSG00000112759 187 0 0.00 94 21 18.26 - - - SLC38A7 0 genome.wustl.edu 37 16 58709846 58709846 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 16 58709846 58709846 G T SNP SLC38A7 ENST00000219320 human ensembl 69_37n -1 known missense c.881 p.T294K 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 47 0 0.00 23 8 25.81 - - - SLC6A19 0 genome.wustl.edu 37 5 1219062 1219062 + Silent SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 5 1219062 1219062 C T SNP SLC6A19 ENST00000304460 human ensembl 69_37n +1 known silent c.1218 p.A406 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 375 0 0.00 328 45 12.06 - - - SPEN 0 genome.wustl.edu 37 1 16255132 16255132 + Silent SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 16255132 16255132 G C SNP SPEN ENST00000375759 human ensembl 69_37n +1 known silent c.2397 p.P799 0.003 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 52 0 0.00 66 15 18.52 - - - STAMBPL1 0 genome.wustl.edu 37 10 90672857 90672857 + Splice_Site SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 90672857 90672857 G T SNP STAMBPL1 ENST00000371927 human ensembl 69_37n +1 known splice_site c.421-1 e5-1 1.000 - - - no_errors STAMBPL1 HGNC ENSG00000138134 18 0 0.00 17 5 22.73 - - - STK11IP 0 genome.wustl.edu 37 2 220473482 220473484 + In_Frame_Del DEL CCC CCC - TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 CCC CCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 2 220473482 220473484 CCC - DEL STK11IP ENST00000456909 human ensembl 69_37n +1 novel in_frame_del c.1781_1783 p.AQ594in_frame_delE 0.000:0.000:0.000 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 21 0 0.00 24 24 50.00 - - - STOX1 0 genome.wustl.edu 37 10 70645645 70645645 + Missense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 10 70645645 70645645 G T SNP STOX1 ENST00000298596 human ensembl 69_37n +1 known missense c.2093 p.G698V 0.017 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 100 0 0.00 73 23 23.96 - - - SUSD5 0 genome.wustl.edu 37 3 33194513 33194513 + Silent SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 3 33194513 33194513 C A SNP SUSD5 ENST00000309558 human ensembl 69_37n -1 known silent c.1611 p.L537 0.749 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 248 0 0.00 178 31 14.83 - - - SYNE1 0 genome.wustl.edu 37 6 152737562 152737562 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 6 152737562 152737562 C T SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.6010 p.E2004K 0.989 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 201 0 0.00 217 29 11.79 - - - TAF1 0 genome.wustl.edu 37 X 70607214 70607214 + Nonsense_Mutation SNP T T G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed X 70607214 70607214 T G SNP TAF1 ENST00000449580 human ensembl 69_37n +1 known nonsense c.2327 p.L776* 0.979 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 462 0 0.00 213 67 23.93 - - - TEP1 0 genome.wustl.edu 37 14 20846384 20846384 + Silent SNP T T G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 14 20846384 20846384 T G SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known silent c.5520 p.A1840 0.231 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 63 0 0.00 32 4 10.81 - - - TGS1 0 genome.wustl.edu 37 8 56699101 56699101 + Missense_Mutation SNP A A T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 8 56699101 56699101 A T SNP TGS1 ENST00000260129 human ensembl 69_37n +1 known missense c.644 p.Q215L 1.000 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 213 0 0.00 282 41 12.69 - - - TM2D1 0 genome.wustl.edu 37 1 62165923 62165923 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 62165923 62165923 C A SNP TM2D1 ENST00000371177 human ensembl 69_37n -1 known missense c.463 p.V155F 0.884 NULL pfam_TM2 - no_errors TM2D1 HGNC ENSG00000162604 156 0 0.00 116 26 18.31 - - - TMEM63C 0 genome.wustl.edu 37 14 77723060 77723060 + Missense_Mutation SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 14 77723060 77723060 G C SNP TMEM63C ENST00000298351 human ensembl 69_37n +1 known missense c.2412 p.Q804H 0.876 NULL pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 69 0 0.00 30 4 11.76 - - - TMEM82 0 genome.wustl.edu 37 1 16069647 16069647 + Missense_Mutation SNP G G C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 16069647 16069647 G C SNP TMEM82 ENST00000375782 human ensembl 69_37n +1 known missense c.294 p.E98D 1.000 NULL NULL - no_errors TMEM82 HGNC ENSG00000162460 67 0 0.00 34 7 17.07 - - - TP53 0 genome.wustl.edu 37 17 7578556 7578556 + Splice_Site SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 17 7578556 7578556 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known splice_site c.376-2 e4-2 1.000 - - - no_errors TP53 HGNC ENSG00000141510 53 0 0.00 16 11 40.74 - - - TTLL1 0 genome.wustl.edu 37 22 43465764 43465764 + Missense_Mutation SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 22 43465764 43465764 T C SNP TTLL1 ENST00000266254 human ensembl 69_37n -1 known missense c.200 p.N67S 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL1 HGNC ENSG00000100271 329 1 0.30 200 44 18.03 - - - TXNL4A 0 genome.wustl.edu 37 18 77733812 77733814 + In_Frame_Del DEL TTG TTG - TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 18 77733812 77733814 TTG - DEL TXNL4A ENST00000269601 human ensembl 69_37n -1 known in_frame_del c.302_300 p.N100in_frame_del 1.000:1.000:1.000 pfam_mRNA_splic_U5,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4A HGNC ENSG00000141759 154 0 0.00 89 16 15.24 - - - UBQLN4 0 genome.wustl.edu 37 1 156021546 156021546 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 156021546 156021546 C T SNP UBQLN4 ENST00000368309 human ensembl 69_37n -1 known missense c.211 p.G71R 1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 123 0 0.00 117 19 13.97 - - - URB1 0 genome.wustl.edu 37 21 33750825 33750825 + Missense_Mutation SNP T T G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 21 33750825 33750825 T G SNP URB1 ENST00000382751 human ensembl 69_37n -1 known missense c.593 p.Y198S 1.000 pfam_Npa1_N pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 96 0 0.00 66 15 18.52 - - - USP12 0 genome.wustl.edu 37 13 27645275 27645275 + Missense_Mutation SNP C C T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 13 27645275 27645275 C T SNP USP12 ENST00000282344 human ensembl 69_37n -1 known missense c.944 p.R315Q 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP12 HGNC ENSG00000152484 115 0 0.00 73 77 51.33 - - - USP29 0 genome.wustl.edu 37 19 57642432 57642432 + Missense_Mutation SNP A A C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 19 57642432 57642432 A C SNP USP29 ENST00000254181 human ensembl 69_37n +1 known missense c.2389 p.I797L 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP29 HGNC ENSG00000131864 90 0 0.00 53 21 28.38 - - - USP9X 0 genome.wustl.edu 37 X 41048632 41048633 + Frame_Shift_Ins INS - - A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed X 41048632 41048633 - A INS USP9X ENST00000324545 human ensembl 69_37n +1 known frame_shift_ins c.3881_3882 p.C1295fs 0.736:0.310 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 358 0 0.00 116 101 46.54 - - - ZFP82 0 genome.wustl.edu 37 19 36883688 36883688 + Silent SNP A A G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 19 36883688 36883688 A G SNP ZFP82 ENST00000392161 human ensembl 69_37n -1 known silent c.1554 p.H518 0.046 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 ZFP82 HGNC ENSG00000181007 109 0 0.00 120 30 20.00 - - - ZMYM4 0 genome.wustl.edu 37 1 35835672 35835672 + Missense_Mutation SNP C C G TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 1 35835672 35835672 C G SNP ZMYM4 ENST00000314607 human ensembl 69_37n +1 known missense c.883 p.L295V 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH - no_errors ZMYM4 HGNC ENSG00000146463 86 0 0.00 90 12 11.76 - - - ZNF131 0 genome.wustl.edu 37 5 43174618 43174618 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 5 43174618 43174618 C A SNP ZNF131 ENST00000399534 human ensembl 69_37n +1 known missense c.1255 p.P419T 1.000 pfscan_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 ZNF131 HGNC ENSG00000172262 58 0 0.00 82 20 19.61 - - - ZNF334 0 genome.wustl.edu 37 20 45130495 45130495 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 20 45130495 45130495 C A SNP ZNF334 ENST00000347606 human ensembl 69_37n -1 known missense c.1483 p.G495C 0.983 NULL 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 ZNF334 HGNC ENSG00000198185 116 0 0.00 152 24 13.64 - - - ZSCAN1 0 genome.wustl.edu 37 19 58564986 58564986 + Missense_Mutation SNP T T C TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 19 58564986 58564986 T C SNP ZSCAN1 ENST00000282326 human ensembl 69_37n +1 known missense c.794 p.L265P 0.003 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 49 0 0.00 32 4 11.11 - - - ZSCAN23 0 genome.wustl.edu 37 6 28403825 28403825 + Nonsense_Mutation SNP G G T TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 94a6c172-25e2-4438-945c-9b310f89ae22 b840005e-ca83-4444-ad1d-e3e263ae4fed 6 28403825 28403825 G T SNP ZSCAN23 ENST00000289788 human ensembl 69_37n -1 known nonsense c.219 p.C73* 0.985 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 102 0 0.00 96 17 15.04 - - -