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 101569915 101569915 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 10 101569915 101569915 G A SNP ABCC2 ENST00000370449 human ensembl 69_37n +1 known missense c.1840 p.E614K 1.000 superfamily_ABC_transptrTM_dom_typ1,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 123 1 0.81 69 28 28.87 - - - AMY2B 0 genome.wustl.edu 37 1 104112489 104112489 + RNA SNP A A T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 104112489 104112489 A T SNP AMY2B ENST00000491397 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors AMY2B HGNC ENSG00000240038 43 0 0.00 31 23 42.59 - - - ANK2 0 genome.wustl.edu 37 4 114274877 114274877 + Silent SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 4 114274877 114274877 G A SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known silent c.5103 p.K1701 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 146 1 0.68 68 16 19.05 - - - APOL2 0 genome.wustl.edu 37 22 36623937 36623937 + Missense_Mutation SNP C C A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 22 36623937 36623937 C A SNP APOL2 ENST00000249066 human ensembl 69_37n -1 known missense c.527 p.R176L 0.000 pfam_ApoL pfam_ApoL - no_errors APOL2 HGNC ENSG00000128335 60 0 0.00 70 9 11.39 - - - ARID3B 0 genome.wustl.edu 37 15 74836338 74836338 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 15 74836338 74836338 G A SNP ARID3B ENST00000346246 human ensembl 69_37n +1 known missense c.61 p.A21T 0.244 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 153 0 0.00 41 25 37.88 - - - ARID4B 0 genome.wustl.edu 37 1 235392550 235392550 + Missense_Mutation SNP T T C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 235392550 235392550 T C SNP ARID4B ENST00000264183 human ensembl 69_37n -1 known missense c.893 p.E298G 1.000 superfamily_ARID/BRIGHT_DNA-bd pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 194 0 0.00 307 104 25.30 - - - ATP10D 0 genome.wustl.edu 37 4 47593232 47593232 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 4 47593232 47593232 G A SNP ATP10D ENST00000273859 human ensembl 69_37n +1 known missense c.4115 p.G1372E 0.002 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,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 ATP10D HGNC ENSG00000145246 154 0 0.00 77 30 28.04 - - - ATP13A2 0 genome.wustl.edu 37 1 17320173 17320173 + Missense_Mutation SNP G G C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 17320173 17320173 G C SNP ATP13A2 ENST00000326735 human ensembl 69_37n -1 known missense c.1700 p.T567S 0.934 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ENSG00000159363 27 0 0.00 16 5 23.81 - - - BMP1 0 genome.wustl.edu 37 8 22037949 22037949 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 8 22037949 22037949 G A SNP BMP1 ENST00000306385 human ensembl 69_37n +1 known missense c.1030 p.A344T 0.976 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 106 0 0.00 41 54 55.67 - - - C15orf39 0 genome.wustl.edu 37 15 75498847 75498847 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 15 75498847 75498847 G T SNP C15orf39 ENST00000360639 human ensembl 69_37n +1 known missense c.458 p.R153M 0.999 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 65 0 0.00 56 9 13.85 - - - C16orf85 0 genome.wustl.edu 37 16 88620345 88620345 + Silent SNP A A C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 16 88620345 88620345 A C SNP C16orf85 ENST00000378416 human ensembl 69_37n -1 known silent c.285 p.R95 0.001 NULL NULL - no_errors C16orf85 HGNC ENSG00000205036 24 0 0.00 94 20 17.54 - - - CABIN1 0 genome.wustl.edu 37 22 24445682 24445682 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 22 24445682 24445682 G A SNP CABIN1 ENST00000263119 human ensembl 69_37n +1 known missense c.656 p.C219Y 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 89 0 0.00 60 22 26.83 - - - CADM2 0 genome.wustl.edu 37 3 86010743 86010743 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 3 86010743 86010743 G A SNP CADM2 ENST00000405615 human ensembl 69_37n +1 known missense c.895 p.E299K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC ENSG00000175161 128 1 0.78 113 31 21.53 - - - CASKIN1 0 genome.wustl.edu 37 16 2235149 2235149 + Missense_Mutation SNP C C A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 16 2235149 2235149 C A SNP CASKIN1 ENST00000343516 human ensembl 69_37n -1 known missense c.1202 p.G401V 0.694 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 21 0 0.00 9 8 47.06 - - - CCDC82 0 genome.wustl.edu 37 11 96117312 96117312 + Silent SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 11 96117312 96117312 G A SNP CCDC82 ENST00000278520 human ensembl 69_37n -1 known silent c.600 p.I200 0.001 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 124 0 0.00 477 716 59.92 - - - CDK15 0 genome.wustl.edu 37 2 202744849 202744849 + Missense_Mutation SNP A A T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 202744849 202744849 A T SNP CDK15 ENST00000374598 human ensembl 69_37n +1 known missense c.1157 p.Y386F 0.979 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 CDK15 HGNC ENSG00000138395 73 0 0.00 35 123 77.85 - - - CELF6 0 genome.wustl.edu 37 15 72579624 72579624 + Silent SNP A A G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 15 72579624 72579624 A G SNP CELF6 ENST00000569547 human ensembl 69_37n -1 known silent c.1428 p.D476 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF6 HGNC ENSG00000140488 96 0 0.00 125 80 39.02 - - - CHRNB4 0 genome.wustl.edu 37 15 78922214 78922214 + Missense_Mutation SNP G G C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 15 78922214 78922214 G C SNP CHRNB4 ENST00000261751 human ensembl 69_37n -1 known missense c.433 p.P145A 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 103 1 0.96 44 16 26.67 - - - COL22A1 0 genome.wustl.edu 37 8 139606389 139606389 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 8 139606389 139606389 G T SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known missense c.4486 p.Q1496K 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 45 0 0.00 44 12 21.43 - - - COL6A5 0 genome.wustl.edu 37 3 130142716 130142716 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 3 130142716 130142716 G A SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known missense c.5135 p.R1712Q 0.000 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 160 0 0.00 72 37 33.94 - - - CRAT 0 genome.wustl.edu 37 9 131866570 131866570 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 9 131866570 131866570 G A SNP CRAT ENST00000318080 human ensembl 69_37n -1 known missense c.307 p.L103F 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 20 0 0.00 8 16 61.54 - - - CSTF1 0 genome.wustl.edu 37 20 54978525 54978525 + Silent SNP C C G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 20 54978525 54978525 C G SNP CSTF1 ENST00000217109 human ensembl 69_37n +1 known silent c.1038 p.G346 0.001 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 147 1 0.68 97 33 25.38 - - - DCHS2 0 genome.wustl.edu 37 4 155225823 155225823 + Missense_Mutation SNP A A T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 4 155225823 155225823 A T SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.4238 p.I1413N 0.702 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 145 0 0.00 18 28 60.87 - - - DNAH6 0 genome.wustl.edu 37 2 84800708 84800708 + Missense_Mutation SNP C C G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 84800708 84800708 C G SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.1921 p.P641A 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 198 0 0.00 112 54 32.53 - - - DSCAML1 0 genome.wustl.edu 37 11 117306445 117306445 + Missense_Mutation SNP G G C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 11 117306445 117306445 G C SNP DSCAML1 ENST00000321322 human ensembl 69_37n -1 known missense c.4971 p.C1657W 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 DSCAML1 HGNC ENSG00000177103 162 1 0.61 71 16 18.39 - - - DSE 0 genome.wustl.edu 37 6 116757125 116757125 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 6 116757125 116757125 G T SNP DSE ENST00000537543 human ensembl 69_37n +1 known missense c.1551 p.W517C 1.000 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 35 0 0.00 15 37 71.15 - - - DST 0 genome.wustl.edu 37 6 56484032 56484032 + Silent SNP T T A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 6 56484032 56484032 T A SNP DST ENST00000370765 human ensembl 69_37n -1 known silent c.4800 p.I1600 0.000 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 192 0 0.00 191 106 35.69 - - - EDN2 0 genome.wustl.edu 37 1 41948218 41948218 + Missense_Mutation SNP C C G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 41948218 41948218 C G SNP EDN2 ENST00000372587 human ensembl 69_37n -1 known missense c.263 p.R88P 1.000 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN2 HGNC ENSG00000127129 13 0 0.00 11 6 35.29 - - - EFCAB12 0 genome.wustl.edu 37 3 129134218 129134218 + Silent SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 3 129134218 129134218 C T SNP EFCAB12 ENST00000326085 human ensembl 69_37n -1 known silent c.708 p.E236 0.143 NULL pfscan_EF_HAND_2 - no_errors EFCAB12 HGNC ENSG00000172771 217 0 0.00 114 96 45.50 - - - ERBB3 0 genome.wustl.edu 37 12 56488314 56488314 + Missense_Mutation SNP G G C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 12 56488314 56488314 G C SNP ERBB3 ENST00000550869 human ensembl 69_37n +1 known missense c.74 p.G25A 1.000 NULL NULL - no_errors ERBB3 HGNC ENSG00000065361 64 0 0.00 32 18 36.00 - - - FAM53C 0 genome.wustl.edu 37 5 137681244 137681244 + Missense_Mutation SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 5 137681244 137681244 C T SNP FAM53C ENST00000513056 human ensembl 69_37n +1 putative missense c.296 p.T99M 0.453 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 32 0 0.00 14 7 33.33 - - - FAM86DP 0 genome.wustl.edu 37 3 75471777 75471777 + RNA SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 3 75471777 75471777 G A SNP FAM86DP ENST00000459803 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors FAM86DP HGNC ENSG00000244026 10 0 0.00 4 12 75.00 - - - FAT3 0 genome.wustl.edu 37 11 92538383 92538383 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 11 92538383 92538383 G T SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.8961 p.K2987N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 88 0 0.00 89 50 35.97 - - - FBXL4 0 genome.wustl.edu 37 6 99365418 99365418 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 6 99365418 99365418 G T SNP FBXL4 ENST00000229971 human ensembl 69_37n -1 known missense c.690 p.D230E 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL4 HGNC ENSG00000112234 198 1 0.50 94 21 18.26 - - - FGL2 0 genome.wustl.edu 37 7 76825866 76825866 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 7 76825866 76825866 G T SNP FGL2 ENST00000248598 human ensembl 69_37n -1 known missense c.1050 p.N350K 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 FGL2 HGNC ENSG00000127951 164 0 0.00 139 102 42.32 - - - GABRA3 0 genome.wustl.edu 37 X 151358338 151358338 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 X 151358338 151358338 G A SNP GABRA3 ENST00000370311 human ensembl 69_37n -1 known missense c.1007 p.T336M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 154 0 0.00 58 81 58.27 - - - GLB1L 0 genome.wustl.edu 37 2 220101969 220101969 + Missense_Mutation SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 220101969 220101969 C T SNP GLB1L ENST00000295759 human ensembl 69_37n -1 known missense c.1790 p.G597E 0.004 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 218 0 0.00 59 160 73.06 - - - GPD1 0 genome.wustl.edu 37 12 50500636 50500636 + Missense_Mutation SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 12 50500636 50500636 C T SNP GPD1 ENST00000301149 human ensembl 69_37n +1 known missense c.548 p.T183I 1.000 pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 193 0 0.00 29 50 63.29 - - - H6PD 0 genome.wustl.edu 37 1 9305183 9305183 + Nonsense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 9305183 9305183 G T SNP H6PD ENST00000377403 human ensembl 69_37n +1 known nonsense c.190 p.G64* 1.000 pfam_G6P_DH_NAD-bd pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 106 0 0.00 19 34 64.15 - - - HAS1 0 genome.wustl.edu 37 19 52217059 52217059 + Missense_Mutation SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 19 52217059 52217059 C T SNP HAS1 ENST00000222115 human ensembl 69_37n -1 known missense c.1358 p.R453Q 0.996 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 75 0 0.00 4 3 42.86 - - - HDAC4 0 genome.wustl.edu 37 2 240033318 240033318 + Missense_Mutation SNP C C A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 240033318 240033318 C A SNP HDAC4 ENST00000345617 human ensembl 69_37n -1 known missense c.1867 p.G623C 0.827 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 11 0 0.00 1 4 80.00 - - - HECW2 0 genome.wustl.edu 37 2 197092973 197092973 + Missense_Mutation SNP T T C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 197092973 197092973 T C SNP HECW2 ENST00000260983 human ensembl 69_37n -1 known missense c.3770 p.D1257G 1.000 smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC ENSG00000138411 194 0 0.00 189 24 11.21 - - - HMCN1 0 genome.wustl.edu 37 1 186057340 186057340 + Missense_Mutation SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 186057340 186057340 C T SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.9509 p.T3170I 0.889 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 142 0 0.00 82 40 32.79 - - - HMGCS2 0 genome.wustl.edu 37 1 120311433 120311433 + Missense_Mutation SNP A A G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 120311433 120311433 A G SNP HMGCS2 ENST00000369406 human ensembl 69_37n -1 known missense c.35 p.L12P 0.015 NULL pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS2 HGNC ENSG00000134240 201 0 0.00 45 45 50.00 - - - HPN 0 genome.wustl.edu 37 19 35540279 35540280 + Frame_Shift_Ins INS - - A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 19 35540279 35540280 - A INS HPN ENST00000262626 human ensembl 69_37n +1 known frame_shift_ins c.102_103 p.A34fs 0.042:0.169 NULL pfam_Peptidase_S1_S6,pfam_Hepsin-SRCR,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPN HGNC ENSG00000105707 152 0 0.00 60 8 11.76 - - - HUWE1 0 genome.wustl.edu 37 X 53563526 53563526 + Missense_Mutation SNP C C G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 X 53563526 53563526 C G SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.12240 p.L4080F 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 239 0 0.00 180 72 28.46 - - - ITLN1 0 genome.wustl.edu 37 1 160851091 160851091 + Silent SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 160851091 160851091 G A SNP ITLN1 ENST00000326245 human ensembl 69_37n -1 known silent c.417 p.Y139 1.000 superfamily_Fibrinogen_a/b/g_C superfamily_Fibrinogen_a/b/g_C - no_errors ITLN1 HGNC ENSG00000179914 176 0 0.00 103 37 26.24 - - - KCNA6 0 genome.wustl.edu 37 12 4920089 4920089 + Silent SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 12 4920089 4920089 C T SNP KCNA6 ENST00000280684 human ensembl 69_37n +1 known silent c.882 p.N294 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 72 0 0.00 64 55 46.22 - - - KCNJ12 0 genome.wustl.edu 37 17 21319369 21319369 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 17 21319369 21319369 G A SNP KCNJ12 ENST00000331718 human ensembl 69_37n +1 known missense c.715 p.E239K 0.996 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 36 0 0.00 39 11 22.00 - - - KIF21B 0 genome.wustl.edu 37 1 200957999 200957999 + Missense_Mutation SNP T T A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 200957999 200957999 T A SNP KIF21B ENST00000422435 human ensembl 69_37n -1 known missense c.3193 p.T1065S 1.000 superfamily_Prefoldin 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 38 0 0.00 12 8 40.00 - - - KLHL4 0 genome.wustl.edu 37 X 86880629 86880629 + Missense_Mutation SNP C C A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 X 86880629 86880629 C A SNP KLHL4 ENST00000373114 human ensembl 69_37n +1 known missense c.1157 p.T386N 1.000 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 74 0 0.00 88 56 38.62 - - - LAMA1 0 genome.wustl.edu 37 18 6997880 6997880 + Missense_Mutation SNP C C G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 18 6997880 6997880 C G SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known missense c.4667 p.C1556S 1.000 pfam_EGF_laminin 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 93 0 0.00 229 120 34.38 - - - LCN8 0 genome.wustl.edu 37 9 139651510 139651510 + Silent SNP G G C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 9 139651510 139651510 G C SNP LCN8 ENST00000371688 human ensembl 69_37n -1 known silent c.135 p.T45 0.028 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCN8 HGNC ENSG00000204001 17 0 0.00 30 14 31.11 - - - LRRC34 0 genome.wustl.edu 37 3 169514046 169514046 + Missense_Mutation SNP G G C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 3 169514046 169514046 G C SNP LRRC34 ENST00000446859 human ensembl 69_37n -1 known missense c.1020 p.N340K 0.007 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 285 1 0.35 194 149 43.44 - - - LRRC37A 0 genome.wustl.edu 37 17 44408126 44408126 + Silent SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 17 44408126 44408126 G A SNP LRRC37A ENST00000320254 human ensembl 69_37n +1 known silent c.3483 p.R1161 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC ENSG00000176681 24 0 0.00 5 9 64.29 - - - LUZP2 0 genome.wustl.edu 37 11 24750742 24750742 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 11 24750742 24750742 G T SNP LUZP2 ENST00000336930 human ensembl 69_37n +1 known missense c.90 p.Q30H 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 109 0 0.00 23 17 42.50 - - - LYG2 0 genome.wustl.edu 37 2 99860525 99860525 + Missense_Mutation SNP T T A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 99860525 99860525 T A SNP LYG2 ENST00000333017 human ensembl 69_37n -1 known missense c.457 p.T153S 0.067 pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23 pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG2 HGNC ENSG00000185674 348 0 0.00 142 112 44.09 - - - MAGEB3 0 genome.wustl.edu 37 X 30254047 30254047 + Silent SNP T T C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 X 30254047 30254047 T C SNP MAGEB3 ENST00000361644 human ensembl 69_37n +1 known silent c.6 p.P2 0.664 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 76 0 0.00 21 38 64.41 - - - MATN2 0 genome.wustl.edu 37 8 98943194 98943194 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 8 98943194 98943194 G T SNP MATN2 ENST00000254898 human ensembl 69_37n +1 known missense c.156 p.E52D 0.981 NULL pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 70 0 0.00 85 23 21.30 - - - MED12 0 genome.wustl.edu 37 X 70361814 70361814 + Missense_Mutation SNP A A G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 X 70361814 70361814 A G SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.6499 p.N2167D 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 206 0 0.00 97 47 32.64 - - - MEIS2 0 genome.wustl.edu 37 15 37186920 37186920 + RNA SNP C C G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 15 37186920 37186920 C G SNP MEIS2 ENST00000558643 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MEIS2 HGNC ENSG00000134138 176 0 0.00 96 156 61.90 - - - MT3 0 genome.wustl.edu 37 16 56623468 56623468 + Missense_Mutation SNP C C A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 16 56623468 56623468 C A SNP MT3 ENST00000561640 human ensembl 69_37n +1 putative missense c.101 p.A34D 0.100 NULL pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT3 HGNC ENSG00000087250 51 0 0.00 8 14 63.64 - - - MTRF1L 0 genome.wustl.edu 37 6 153310937 153310937 + RNA DEL A A - TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 6 153310937 153310937 A - DEL MTRF1L ENST00000461949 human ensembl 69_37n -1 known rna NULL NULL 0.168 - - - no_errors MTRF1L HGNC ENSG00000112031 17 0 0.00 7 6 42.86 - - - MYO18B 0 genome.wustl.edu 37 22 26224905 26224905 + Silent SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 22 26224905 26224905 C T SNP MYO18B ENST00000335473 human ensembl 69_37n +1 known silent c.2949 p.T983 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 149 0 0.00 83 62 42.76 - - - NCOR1 0 genome.wustl.edu 37 17 15965075 15965075 + Missense_Mutation SNP C C G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 17 15965075 15965075 C G SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.5521 p.E1841Q 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 66 0 0.00 16 9 36.00 - - - NUP98 0 genome.wustl.edu 37 11 3752646 3752646 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 11 3752646 3752646 G A SNP NUP98 ENST00000527104 human ensembl 69_37n -1 novel missense c.563 p.P188L 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon NUP98 HGNC ENSG00000110713 364 1 0.27 200 26 11.45 - - - OAS1 0 genome.wustl.edu 37 12 113355524 113355524 + Missense_Mutation SNP T T C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 12 113355524 113355524 T C SNP OAS1 ENST00000452357 human ensembl 69_37n +1 known missense c.1057 p.S353P 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 431 2 0.46 209 31 12.92 - - - OPA1 0 genome.wustl.edu 37 3 193361877 193361877 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 3 193361877 193361877 G T SNP OPA1 ENST00000361510 human ensembl 69_37n +1 known missense c.1591 p.V531L 1.000 smart_Dynamin_GTPase pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin - no_errors OPA1 HGNC ENSG00000198836 213 0 0.00 153 27 15.00 - - - OR1S1 0 genome.wustl.edu 37 11 57983026 57983026 + Silent SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 11 57983026 57983026 C T SNP OR1S1 ENST00000309433 human ensembl 69_37n +1 known silent c.810 p.G270 0.001 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 OR1S1 HGNC ENSG00000172774 135 0 0.00 163 91 35.83 - - - OSMR 0 genome.wustl.edu 37 5 38884114 38884114 + Missense_Mutation SNP A A G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 5 38884114 38884114 A G SNP OSMR ENST00000274276 human ensembl 69_37n +1 known missense c.604 p.S202G 0.002 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 202 0 0.00 110 59 34.91 - - - PC 0 genome.wustl.edu 37 11 66638537 66638537 + Missense_Mutation SNP C C G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 11 66638537 66638537 C G SNP PC ENST00000393958 human ensembl 69_37n -1 known missense c.619 p.V207L 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 55 0 0.00 80 48 37.50 - - - PDE3A 0 genome.wustl.edu 37 12 20790155 20790155 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 12 20790155 20790155 G A SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known missense c.2123 p.G708D 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 120 0 0.00 200 51 20.32 - - - PDZRN3 0 genome.wustl.edu 37 3 73657824 73657824 + Silent SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 3 73657824 73657824 G T SNP PDZRN3 ENST00000263666 human ensembl 69_37n -1 known silent c.735 p.T245 0.999 superfamily_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 102 0 0.00 35 45 56.25 - - - PEX1 0 genome.wustl.edu 37 7 92131275 92131275 + Missense_Mutation SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 7 92131275 92131275 C T SNP PEX1 ENST00000248633 human ensembl 69_37n -1 known missense c.2345 p.R782K 1.000 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 283 1 0.35 136 61 30.81 - - - PKDREJ 0 genome.wustl.edu 37 22 46654201 46654201 + Silent SNP T T G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 22 46654201 46654201 T G SNP PKDREJ ENST00000253255 human ensembl 69_37n -1 known silent c.5019 p.I1673 0.000 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 119 0 0.00 251 206 45.08 - - - PPP2R1B 0 genome.wustl.edu 37 11 111613318 111613318 + Missense_Mutation SNP T T C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 11 111613318 111613318 T C SNP PPP2R1B ENST00000531890 human ensembl 69_37n -1 novel missense c.511 p.R171G 0.999 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PPP2R1B HGNC ENSG00000137713 282 1 0.35 159 33 17.19 - - - PREP 0 genome.wustl.edu 37 6 105729625 105729625 + Missense_Mutation SNP C C A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 6 105729625 105729625 C A SNP PREP ENST00000369110 human ensembl 69_37n -1 known missense c.1834 p.V612F 0.820 pfam_Peptidase_S9,prints_Peptidase_S9A pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 131 0 0.00 82 19 18.81 - - - PRKDC 0 genome.wustl.edu 37 8 48792059 48792059 + Missense_Mutation SNP A A T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 8 48792059 48792059 A T SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.5225 p.M1742K 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,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 PRKDC HGNC ENSG00000253729 105 0 0.00 54 45 45.45 - - - PTPRO 0 genome.wustl.edu 37 12 15673165 15673165 + Missense_Mutation SNP T T C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 12 15673165 15673165 T C SNP PTPRO ENST00000281171 human ensembl 69_37n +1 known missense c.1810 p.Y604H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 98 0 0.00 110 37 25.17 - - - RLF 0 genome.wustl.edu 37 1 40702980 40702980 + Missense_Mutation SNP A A G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 40702980 40702980 A G SNP RLF ENST00000372771 human ensembl 69_37n +1 known missense c.2606 p.D869G 0.672 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 70 0 0.00 67 35 34.31 - - - RNF213 0 genome.wustl.edu 37 17 78362440 78362440 + Missense_Mutation SNP A A G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 17 78362440 78362440 A G SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known missense c.14951 p.D4984G 1.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 126 0 0.00 51 110 68.32 - - - RXRG 0 genome.wustl.edu 37 1 165370566 165370566 + Silent SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 165370566 165370566 G A SNP RXRG ENST00000359842 human ensembl 69_37n -1 known silent c.1326 p.L442 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 140 0 0.00 32 28 46.67 - - - S100A7L2 0 genome.wustl.edu 37 1 153409544 153409544 + Missense_Mutation SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 153409544 153409544 C T SNP S100A7L2 ENST00000453814 human ensembl 69_37n -1 known missense c.329 p.G110E 0.000 NULL pfscan_EF_HAND_2 - no_errors S100A7L2 HGNC ENSG00000197364 280 1 0.36 217 25 10.33 - - - SARS 0 genome.wustl.edu 37 1 109773582 109773582 + Missense_Mutation SNP T T G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 109773582 109773582 T G SNP SARS ENST00000369923 human ensembl 69_37n +1 known missense c.530 p.V177G 1.000 pirsf_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_IIa_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa - no_errors SARS HGNC ENSG00000031698 283 2 0.70 235 146 38.32 - - - SEPT5 0 genome.wustl.edu 37 22 19707720 19707720 + Missense_Mutation SNP G G C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 22 19707720 19707720 G C SNP SEPT5 ENST00000413258 human ensembl 69_37n +1 novel missense c.10 p.G4R 1.000 pfam_Cell_div_GTP-bd pfam_Cell_div_GTP-bd - no_start_codon:pseudogene:no_stop_codon SEPT5 HGNC ENSG00000184702 21 0 0.00 104 65 38.46 - - - SLC12A9 0 genome.wustl.edu 37 7 100456721 100456721 + Silent SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 7 100456721 100456721 C T SNP SLC12A9 ENST00000354161 human ensembl 69_37n +1 known silent c.915 p.A305 0.138 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC12A9 HGNC ENSG00000146828 261 0 0.00 140 96 40.68 - - - TAOK3 0 genome.wustl.edu 37 12 118590205 118590205 + Missense_Mutation SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 12 118590205 118590205 C T SNP TAOK3 ENST00000392533 human ensembl 69_37n -1 known missense c.2362 p.D788N 1.000 NULL 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 TAOK3 HGNC ENSG00000135090 95 0 0.00 47 17 26.56 - - - TARS2 0 genome.wustl.edu 37 1 150471489 150471489 + Silent SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 150471489 150471489 C T SNP TARS2 ENST00000369064 human ensembl 69_37n +1 known silent c.1518 p.C506 0.005 pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS2 HGNC ENSG00000143374 133 0 0.00 133 93 40.97 - - - TBC1D2 0 genome.wustl.edu 37 9 100961795 100961795 + Missense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 9 100961795 100961795 G T SNP TBC1D2 ENST00000375066 human ensembl 69_37n -1 known missense c.2622 p.H874Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 45 0 0.00 19 7 26.92 - - - TCTN2 0 genome.wustl.edu 37 12 124156618 124156618 + Missense_Mutation SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 12 124156618 124156618 C T SNP TCTN2 ENST00000303372 human ensembl 69_37n +1 known missense c.206 p.P69L 0.268 NULL pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 227 0 0.00 37 81 68.64 - - - TEX15 0 genome.wustl.edu 37 8 30704902 30704902 + Missense_Mutation SNP T T G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 8 30704902 30704902 T G SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.1632 p.R544S 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 43 0 0.00 100 61 37.89 - - - THADA 0 genome.wustl.edu 37 2 43793935 43793935 + Missense_Mutation SNP C C T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 43793935 43793935 C T SNP THADA ENST00000405006 human ensembl 69_37n -1 known missense c.2213 p.S738N 0.708 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 103 0 0.00 93 60 39.22 - - - TRDC 0 genome.wustl.edu 37 14 22931941 22931941 + Silent SNP A A T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 14 22931941 22931941 A T SNP TRDC ENST00000390477 human ensembl 69_37n +1 known silent c.18 p.P6 0.004 NULL pfam_Ig_C1-set - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRDC HGNC ENSG00000211829 112 0 0.00 162 19 10.50 - - - TTC39A 0 genome.wustl.edu 37 1 51767913 51767913 + Frame_Shift_Del DEL C C - TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 51767913 51767913 C - DEL TTC39A ENST00000262676 human ensembl 69_37n -1 known frame_shift_del c.1103 p.G368fs 0.000 NULL pfam_OMP_IML2_mit/TPR_39 - no_errors TTC39A HGNC ENSG00000085831 9 0 0.00 14 3 17.65 - - - TTN 0 genome.wustl.edu 37 2 179583919 179583919 + Missense_Mutation SNP A A T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 179583919 179583919 A T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.20466 p.D6822E 0.011 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,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 62 0 0.00 17 27 61.36 - - - UBAP2L 0 genome.wustl.edu 37 1 154232354 154232354 + RNA SNP C C G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 1 154232354 154232354 C G SNP UBAP2L ENST00000475373 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors UBAP2L HGNC ENSG00000143569 100 0 0.00 114 66 36.67 - - - UCP2 0 genome.wustl.edu 37 11 73686076 73686076 + Nonsense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 11 73686076 73686076 G T SNP UCP2 ENST00000310473 human ensembl 69_37n -1 known nonsense c.906 p.C302* 0.000 prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP2 HGNC ENSG00000175567 123 0 0.00 63 40 38.83 - - - VIT 0 genome.wustl.edu 37 2 36994266 36994266 + Missense_Mutation SNP C C A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 36994266 36994266 C A SNP VIT ENST00000379242 human ensembl 69_37n +1 known missense c.517 p.P173T 0.003 NULL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 205 0 0.00 82 38 31.67 - - - VMP1 0 genome.wustl.edu 37 17 57915716 57915716 + Silent SNP A A G TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 17 57915716 57915716 A G SNP VMP1 ENST00000262291 human ensembl 69_37n +1 known silent c.1035 p.Q345 1.000 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 121 0 0.00 28 82 74.55 - - - WHSC1 0 genome.wustl.edu 37 4 1941401 1941401 + Missense_Mutation SNP G G A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 4 1941401 1941401 G A SNP WHSC1 ENST00000382891 human ensembl 69_37n +1 known missense c.1777 p.A593T 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 98 0 0.00 53 62 53.91 - - - XIRP2 0 genome.wustl.edu 37 2 168106560 168106560 + Missense_Mutation SNP G G C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 168106560 168106560 G C SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known missense c.8658 p.L2886F 0.015 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 112 0 0.00 23 13 36.11 - - - ZEB1 0 genome.wustl.edu 37 10 31810284 31810284 + Missense_Mutation SNP C C A TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 10 31810284 31810284 C A SNP ZEB1 ENST00000361642 human ensembl 69_37n +1 known missense c.2024 p.T675K 0.952 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 122 0 0.00 161 61 27.35 - - - ZEB2 0 genome.wustl.edu 37 2 145187357 145187357 + Nonsense_Mutation SNP G G T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 2 145187357 145187357 G T SNP ZEB2 ENST00000419938 human ensembl 69_37n -1 putative nonsense c.237 p.Y79* 1.000 NULL pfam_Znf_C2H2,pfam_Di19_RING_finger_144,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZEB2 HGNC ENSG00000169554 169 1 0.59 47 21 30.88 - - - ZNF335 0 genome.wustl.edu 37 20 44587919 44587919 + Missense_Mutation SNP G G C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 20 44587919 44587919 G C SNP ZNF335 ENST00000322927 human ensembl 69_37n -1 known missense c.2174 p.S725C 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 29 0 0.00 23 17 42.50 - - - ZNF595 0 genome.wustl.edu 37 4 87098 87098 + RNA SNP A A C TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 4 87098 87098 A C SNP ZNF595 ENST00000339368 human ensembl 69_37n +1 known rna NULL NULL 0.159 - - - no_errors ZNF595 HGNC ENSG00000197701 47 0 0.00 19 36 65.45 - - - ZNF595 0 genome.wustl.edu 37 4 87135 87135 + RNA SNP A A T TCGA-B6-A0I6-01A-11D-A128-09 TCGA-B6-A0I6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a876398c-5b1d-444f-a360-5fe2db697480 b4a473ab-e3f9-4827-b4fc-30038f3cf711 4 87135 87135 A T SNP ZNF595 ENST00000339368 human ensembl 69_37n +1 known rna NULL NULL 0.196 - - - no_errors ZNF595 HGNC ENSG00000197701 37 0 0.00 11 35 76.09 - - -