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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AAMP 0 genome.wustl.edu 37 2 219129888 219129888 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 219129888 219129888 C T SNP AAMP ENST00000248450 human ensembl 74_37 -1 known missense c.1084 p.V362M 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAMP HGNC ENSG00000127837 96 0 0.00 45 5 9.80 ABCF2 0 genome.wustl.edu 37 7 150915205 150915205 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 150915205 150915205 C A SNP ABCF2 ENST00000222388 human ensembl 74_37 -1 known missense c.1300 p.A434S 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 tier1 - - 40 0 0.00 40 4 9.09 ABHD14B 0 genome.wustl.edu 37 3 52003518 52003518 + Frame_Shift_Del DEL G G - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 52003518 52003518 G - DEL ABHD14B ENST00000361143 human ensembl 74_37 -1 known frame_shift_del c.557 p.A186fs 1.000 NULL NULL - no_errors ABHD14B HGNC ENSG00000114779 tier1 18 0 0.00 20 2 9.09 ACBD4 0 genome.wustl.edu 37 17 43213937 43213937 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 43213937 43213937 C T SNP ACBD4 ENST00000431281 human ensembl 74_37 +1 known silent c.159 p.P53 1.000 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ENSG00000181513 tier1 - - 103 0 0.00 69 4 5.48 ADCK2 0 genome.wustl.edu 37 7 140380866 140380866 + Nonsense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 140380866 140380866 C T SNP ADCK2 ENST00000072869 human ensembl 74_37 +1 known nonsense c.1234 p.Q412* 1.000 superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK2 HGNC ENSG00000133597 tier1 - - 79 0 0.00 32 34 51.52 AEBP1 0 genome.wustl.edu 37 7 44152463 44152463 + Missense_Mutation SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 44152463 44152463 G C SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.2524 p.G842R 0.996 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 130 0 0.00 85 9 9.57 AEBP2 0 genome.wustl.edu 37 12 19626251 19626251 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 19626251 19626251 A G SNP AEBP2 ENST00000398864 human ensembl 74_37 +1 known missense c.949 p.R317G 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 tier1 - - 81 0 0.00 35 29 45.31 AGPAT6 0 genome.wustl.edu 37 8 41469726 41469726 + Silent SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 8 41469726 41469726 C A SNP AGPAT6 ENST00000396987 human ensembl 74_37 +1 known silent c.729 p.I243 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 75 0 0.00 49 3 5.77 AKAP1 0 genome.wustl.edu 37 17 55183839 55183839 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 55183839 55183839 G T SNP AKAP1 ENST00000337714 human ensembl 74_37 +1 known missense c.1014 p.L338F 0.017 NULL pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 tier1 - - 76 0 0.00 30 12 28.57 ALG9 0 genome.wustl.edu 37 11 111708222 111708222 + Silent SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 111708222 111708222 G T SNP ALG9 ENST00000531154 human ensembl 74_37 -1 known silent c.928 p.R310 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors ALG9 HGNC ENSG00000086848 66 0 0.00 52 3 5.45 ALPK3 0 genome.wustl.edu 37 15 85411669 85411669 + Missense_Mutation SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 85411669 85411669 G C SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.5706 p.K1902N 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 118 0 0.00 28 20 41.67 AMER3 0 genome.wustl.edu 37 2 131522133 131522133 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 131522133 131522133 C T SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.2488 p.P830S 0.001 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 tier1 - - 24 0 0.00 15 21 58.33 ANKRD52 0 genome.wustl.edu 37 12 56646326 56646326 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 56646326 56646326 T A SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known missense c.1330 p.S444C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 83 0 0.00 33 4 10.81 ARHGAP29 0 genome.wustl.edu 37 1 94643144 94643144 + RNA DEL T T - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 94643144 94643144 T - DEL ARHGAP29 ENST00000482481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 50 0 0.00 27 4 12.90 ARMC9 0 genome.wustl.edu 37 2 232146814 232146814 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 232146814 232146814 G T SNP ARMC9 ENST00000349938 human ensembl 74_37 +1 known missense c.1594 p.V532F 0.003 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 tier1 - - 112 0 0.00 73 4 5.19 ATF4 0 genome.wustl.edu 37 22 39917510 39917510 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 22 39917510 39917510 C T SNP ATF4 ENST00000337304 human ensembl 74_37 +1 known silent c.60 p.F20 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 tier1 - - 71 0 0.00 59 8 11.94 ATF6B 0 genome.wustl.edu 37 6 32093828 32093829 + RNA DEL AC AC - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 32093828 32093829 AC - DEL ATF6B ENST00000468502 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATF6B HGNC ENSG00000213676 tier1 42 0 0.00 33 3 8.33 ATP2A2 0 genome.wustl.edu 37 12 110778492 110778492 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 110778492 110778492 G A SNP ATP2A2 ENST00000539276 human ensembl 74_37 +1 known missense c.1790 p.G597D 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A2 HGNC ENSG00000174437 48 0 0.00 37 4 9.76 ATP6V1C2 0 genome.wustl.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 10917819 10917820 AG - DEL ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known frame_shift_del c.934_935 p.E315fs 1.000:1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 tier1 21 0 0.00 19 3 13.64 BAIAP2L2 0 genome.wustl.edu 37 22 38481371 38481371 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 22 38481371 38481371 G T SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known missense c.1526 p.P509H 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 tier1 - - 91 0 0.00 72 4 5.13 BAZ2B 0 genome.wustl.edu 37 2 160242920 160242920 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 160242920 160242920 G A SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.3415 p.L1139F 1.000 pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 tier1 - - 88 0 0.00 62 4 6.06 BET1 0 genome.wustl.edu 37 7 93628493 93628493 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 93628493 93628493 C T SNP BET1 ENST00000357520 human ensembl 74_37 -1 known missense c.133 p.A45T 1.000 pfam_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors BET1 HGNC ENSG00000105829 tier1 - - 95 0 0.00 64 4 5.88 BRINP3 0 genome.wustl.edu 37 1 190129936 190129936 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 190129936 190129936 G A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1046 p.S349F 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 81 0 0.00 21 26 55.32 C14orf23 0 genome.wustl.edu 37 14 29261391 29261391 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 14 29261391 29261391 G A SNP C14orf23 ENST00000399387 human ensembl 74_37 +1 known missense c.428 p.S143N 0.000 NULL NULL - no_errors C14orf23 HGNC ENSG00000186960 tier1 - - 83 0 0.00 36 19 34.55 C16orf82 0 genome.wustl.edu 37 16 27080037 27080038 + RNA INS - - T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 16 27080037 27080038 - T INS C16orf82 ENST00000418886 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors C16orf82 HGNC ENSG00000234186 tier1 26 0 0.00 18 2 10.00 C19orf55 0 genome.wustl.edu 37 19 36249114 36249114 + RNA SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 36249114 36249114 G T SNP C19orf55 ENST00000544876 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors C19orf55 HGNC ENSG00000167595 tier1 - - 85 0 0.00 31 4 11.11 C1R 0 genome.wustl.edu 37 12 7242681 7242681 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 7242681 7242681 T A SNP C1R ENST00000543362 human ensembl 74_37 -1 known missense c.395 p.K132M 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors C1R HGNC ENSG00000159403 tier1 - - 91 0 0.00 72 4 5.26 C9orf131 0 genome.wustl.edu 37 9 35042298 35042298 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 35042298 35042298 G A SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.47 p.G16E 0.004 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 tier1 - - 55 0 0.00 33 19 36.54 CACNA1E 0 genome.wustl.edu 37 1 181724429 181724429 + Silent SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 181724429 181724429 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.3885 p.V1295 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 50 0 0.00 26 7 21.21 CACNA1I 0 genome.wustl.edu 37 22 40060862 40060862 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 22 40060862 40060862 C A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.3803 p.A1268D 0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 tier1 - - 46 0 0.00 29 4 12.12 CACNG8 0 genome.wustl.edu 37 19 54485599 54485599 + Silent SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 54485599 54485599 G A SNP CACNG8 ENST00000270458 human ensembl 74_37 +1 known silent c.774 p.S258 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC ENSG00000142408 20 0 0.00 8 4 33.33 CALHM1 0 genome.wustl.edu 37 10 105215358 105215358 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 105215358 105215358 C T SNP CALHM1 ENST00000329905 human ensembl 74_37 -1 known silent c.702 p.T234 0.681 NULL NULL - no_errors CALHM1 HGNC ENSG00000185933 41 0 0.00 32 2 5.88 CASP1 0 genome.wustl.edu 37 11 104897032 104897032 + Nonsense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 104897032 104897032 C A SNP CASP1 ENST00000436863 human ensembl 74_37 -1 known nonsense c.1168 p.E390* 0.995 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP1 HGNC ENSG00000137752 71 0 0.00 37 2 5.13 CCDC129 0 genome.wustl.edu 37 7 31682502 31682502 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 31682502 31682502 T A SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.1596 p.F532L 0.645 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 tier1 - - 26 0 0.00 31 6 16.22 CCDC132 0 genome.wustl.edu 37 7 92932771 92932771 + Splice_Site SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 92932771 92932771 G T SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known splice_site c.1362-1 e17-1 1.000 - - - no_errors CCDC132 HGNC ENSG00000004766 34 0 0.00 20 2 9.09 CCDC150 0 genome.wustl.edu 37 2 197584490 197584490 + RNA DEL A A - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 197584490 197584490 A - DEL CCDC150 ENST00000461825 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CCDC150 HGNC ENSG00000144395 tier1 38 0 0.00 22 3 12.00 CCDC27 0 genome.wustl.edu 37 1 3673316 3673316 + Frame_Shift_Del DEL T T - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 3673316 3673316 T - DEL CCDC27 ENST00000294600 human ensembl 74_37 +1 known frame_shift_del c.573 p.S191fs 0.211 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 tier1 56 0 0.00 18 2 10.00 CCDC69 0 genome.wustl.edu 37 5 150563967 150563967 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 150563967 150563967 C T SNP CCDC69 ENST00000355417 human ensembl 74_37 -1 known silent c.651 p.T217 0.420 NULL superfamily_ER_p29_C - no_errors CCDC69 HGNC ENSG00000198624 tier1 - - 61 0 0.00 52 9 14.75 CCNJ 0 genome.wustl.edu 37 10 97817694 97817694 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 97817694 97817694 T A SNP CCNJ ENST00000465148 human ensembl 74_37 +1 known missense c.848 p.V283D 0.996 NULL pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJ HGNC ENSG00000107443 58 0 0.00 27 2 6.90 CCT6P3 0 genome.wustl.edu 37 7 64530054 64530054 + RNA SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 64530054 64530054 T C SNP CCT6P3 ENST00000426828 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P3 HGNC ENSG00000234585 tier1 - - 120 0 0.00 49 11 18.33 CDC27 0 genome.wustl.edu 37 17 45247389 45247389 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 45247389 45247389 T A SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.271 p.I91F 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 94 0 0.00 37 2 5.13 CDH20 0 genome.wustl.edu 37 18 59195231 59195231 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 18 59195231 59195231 C A SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.1049 p.T350N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 tier1 - - 54 0 0.00 9 12 57.14 CEACAM20 0 genome.wustl.edu 37 19 45015182 45015182 + RNA SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 45015182 45015182 T A SNP CEACAM20 ENST00000316962 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CEACAM20 HGNC ENSG00000176395 tier1 - - 96 0 0.00 68 4 5.56 CELA3A 0 genome.wustl.edu 37 1 22332269 22332269 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 22332269 22332269 C T SNP CELA3A ENST00000290122 human ensembl 74_37 +1 known silent c.342 p.N114 0.368 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 tier1 - - 84 0 0.00 66 4 5.71 CELF6 0 genome.wustl.edu 37 15 72582500 72582500 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 72582500 72582500 G A SNP CELF6 ENST00000569547 human ensembl 74_37 -1 known missense c.491 p.T164M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF6 Uniprot_gn ENSG00000273025 77 0 0.00 56 3 5.08 CELP 0 genome.wustl.edu 37 9 135962555 135962556 + RNA INS - - CTGC TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 135962555 135962556 - CTGC INS CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.038:0.013 - - - no_errors CELP HGNC ENSG00000170827 tier1 19 0 0.00 12 4 25.00 CHAF1B 0 genome.wustl.edu 37 21 37781696 37781696 + Silent SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 21 37781696 37781696 T C SNP CHAF1B ENST00000314103 human ensembl 74_37 +1 known silent c.852 p.P284 0.981 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B - no_errors CHAF1B HGNC ENSG00000159259 73 0 0.00 49 3 5.77 CHD8 0 genome.wustl.edu 37 14 21896333 21896333 + Silent SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 14 21896333 21896333 T C SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known silent c.1296 p.S432 0.756 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 57 0 0.00 47 3 5.88 CHRM1 0 genome.wustl.edu 37 11 62677638 62677638 + Missense_Mutation SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 62677638 62677638 T C SNP CHRM1 ENST00000306960 human ensembl 74_37 -1 known missense c.935 p.Q312R 0.575 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC ENSG00000168539 22 0 0.00 28 4 12.50 CILP2 0 genome.wustl.edu 37 19 19656122 19656122 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 19656122 19656122 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.2768 p.T923I 0.974 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 tier1 - - 74 0 0.00 43 4 8.51 CLEC7A 0 genome.wustl.edu 37 12 10271066 10271066 + Missense_Mutation SNP A A C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 10271066 10271066 A C SNP CLEC7A ENST00000304084 human ensembl 74_37 -1 known missense c.735 p.F245L 0.005 superfamily_C-type_lectin_fold pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC7A HGNC ENSG00000172243 tier1 - - 84 0 0.00 40 10 20.00 CMKLR1 0 genome.wustl.edu 37 12 108686241 108686241 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 108686241 108686241 C A SNP CMKLR1 ENST00000312143 human ensembl 74_37 -1 known missense c.499 p.A167S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 43 0 0.00 34 3 8.11 CNGB3 0 genome.wustl.edu 37 8 87751931 87751931 + Missense_Mutation SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 8 87751931 87751931 T C SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.163 p.T55A 0.970 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 45 0 0.00 38 7 15.56 CNOT6L 0 genome.wustl.edu 37 4 78678024 78678024 + Missense_Mutation SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 78678024 78678024 T C SNP CNOT6L ENST00000264903 human ensembl 74_37 -1 known missense c.482 p.N161S 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6L HGNC ENSG00000138767 tier1 - - 75 0 0.00 33 39 54.17 CNP 0 genome.wustl.edu 37 17 40120030 40120030 + RNA SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 40120030 40120030 G T SNP CNP ENST00000591945 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors CNP HGNC ENSG00000173786 tier1 - - 51 0 0.00 38 4 9.52 COL12A1 0 genome.wustl.edu 37 6 75840585 75840585 + Missense_Mutation SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 75840585 75840585 G C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.6050 p.P2017R 0.886 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 93 0 0.00 23 15 39.47 COL16A1 0 genome.wustl.edu 37 1 32133200 32133200 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 32133200 32133200 C T SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known silent c.3333 p.G1111 0.006 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 69 0 0.00 75 4 5.06 COL21A1 0 genome.wustl.edu 37 6 55942867 55942867 + RNA SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 55942867 55942867 C T SNP COL21A1 ENST00000484987 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors COL21A1 HGNC ENSG00000124749 tier1 - - 92 0 0.00 36 25 40.98 COX18 0 genome.wustl.edu 37 4 73930518 73930518 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 73930518 73930518 C T SNP COX18 ENST00000295890 human ensembl 74_37 -1 known missense c.697 p.V233I 0.991 pfam_Membrane_insert_OXA1/ALB3/YidC pfam_Membrane_insert_OXA1/ALB3/YidC - no_errors COX18 HGNC ENSG00000163626 tier1 - - 79 0 0.00 22 21 48.84 CSMD1 0 genome.wustl.edu 37 8 3076825 3076825 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 8 3076825 3076825 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4627 p.R1543W 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 59 0 0.00 35 2 5.41 CSPG4P13 0 genome.wustl.edu 37 15 78194048 78194048 + RNA SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 78194048 78194048 C G SNP CSPG4P13 ENST00000565545 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors CSPG4P13 HGNC ENSG00000260139 tier1 - - 98 0 0.00 6 24 77.42 CWH43 0 genome.wustl.edu 37 4 49005812 49005812 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 49005812 49005812 G T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.863 p.C288F 0.029 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 49 0 0.00 29 3 9.38 CWH43 0 genome.wustl.edu 37 4 49030703 49030703 + Nonsense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 49030703 49030703 G T SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known nonsense c.1324 p.E442* 1.000 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 73 0 0.00 33 2 5.71 CYFIP2 0 genome.wustl.edu 37 5 156714067 156714067 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 156714067 156714067 G A SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.157 p.V53I 1.000 pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 50 0 0.00 51 4 7.27 DBN1 0 genome.wustl.edu 37 5 176887455 176887455 + Silent SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 176887455 176887455 G T SNP DBN1 ENST00000292385 human ensembl 74_37 -1 known silent c.939 p.P313 0.994 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 tier1 - - 66 0 0.00 42 4 8.70 DDX41 0 genome.wustl.edu 37 5 176943362 176943362 + Silent SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 176943362 176943362 G A SNP DDX41 ENST00000507955 human ensembl 74_37 -1 known silent c.225 p.D75 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 42 0 0.00 34 3 8.11 DDX47 0 genome.wustl.edu 37 12 12974243 12974243 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 12974243 12974243 G T SNP DDX47 ENST00000358007 human ensembl 74_37 +1 known missense c.283 p.A95S 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX47 HGNC ENSG00000213782 tier1 - - 86 0 0.00 68 4 5.56 DDX50 0 genome.wustl.edu 37 10 70696734 70696734 + Silent SNP A A T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 70696734 70696734 A T SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known silent c.1638 p.R546 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 tier1 - - 53 0 0.00 26 4 13.33 DHX15 0 genome.wustl.edu 37 4 24578049 24578049 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 24578049 24578049 G T SNP DHX15 ENST00000336812 human ensembl 74_37 -1 known missense c.324 p.H108Q 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 tier1 - - 109 0 0.00 54 4 6.90 DHX35 0 genome.wustl.edu 37 20 37591011 37591012 + Frame_Shift_Ins INS - - T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 37591011 37591012 - T INS DHX35 ENST00000252011 human ensembl 74_37 +1 known frame_shift_ins c.1_2 p.M1fs 1.000:1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 tier1 161 0 0.00 88 71 44.65 DMD 0 genome.wustl.edu 37 X 32613897 32613897 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 X 32613897 32613897 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.1579 p.A527T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 61 0 0.00 42 4 8.70 DMXL1 0 genome.wustl.edu 37 5 118485616 118485616 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 118485616 118485616 C G SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.4094 p.S1365C 0.996 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 tier1 - - 66 0 0.00 34 18 34.62 DNM1L 0 genome.wustl.edu 37 12 32884819 32884819 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 32884819 32884819 C T SNP DNM1L ENST00000553257 human ensembl 74_37 +1 known missense c.1427 p.A476V 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors DNM1L HGNC ENSG00000087470 tier1 - - 46 0 0.00 46 4 8.00 DSG1 0 genome.wustl.edu 37 18 28914092 28914092 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 18 28914092 28914092 C A SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.932 p.S311Y 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 tier1 - - 120 0 0.00 80 5 5.88 DUSP10 0 genome.wustl.edu 37 1 221875662 221875662 + RNA DEL A A - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 221875662 221875662 A - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 29 0 0.00 18 4 18.18 EED 0 genome.wustl.edu 37 11 85966330 85966330 + Splice_Site SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 85966330 85966330 G T SNP EED ENST00000263360 human ensembl 74_37 +1 known splice_site c.426+1 e4+1 1.000 - - - no_errors EED HGNC ENSG00000074266 tier1 - - 85 0 0.00 53 4 7.02 EFCAB14 0 genome.wustl.edu 37 1 47183662 47183662 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 47183662 47183662 C T SNP EFCAB14 ENST00000371933 human ensembl 74_37 -1 known missense c.98 p.R33H 1.000 NULL pfscan_EF_hand_dom - no_errors EFCAB14 HGNC ENSG00000159658 47 0 0.00 29 2 6.45 EFTUD2 0 genome.wustl.edu 37 17 42953336 42953336 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 42953336 42953336 G A SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.835 p.R279C 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 89 0 0.00 44 3 6.25 EI24 0 genome.wustl.edu 37 11 125448944 125448944 + Nonsense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 125448944 125448944 C T SNP EI24 ENST00000278903 human ensembl 74_37 +1 known nonsense c.541 p.Q181* 1.000 NULL NULL - no_errors EI24 HGNC ENSG00000149547 tier1 - - 61 0 0.00 41 4 8.89 EIF4G2 0 genome.wustl.edu 37 11 10828881 10828881 + RNA SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 10828881 10828881 T C SNP EIF4G2 ENST00000531507 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors EIF4G2 HGNC ENSG00000110321 tier1 - - 72 0 0.00 28 13 31.71 ENSG00000205611 0 genome.wustl.edu 37 20 29516551 29516551 + RNA SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 29516551 29516551 C G SNP ENSG00000205611 ENST00000380888 human ensembl 74_37 -1 known rna NULL NULL 0.038 - - - no_errors RP4-610C12.4 Clone_based_vega_gene ENSG00000205611 tier1 - - 130 0 0.00 42 35 45.45 ENSG00000225411 0 genome.wustl.edu 37 9 68400604 68400604 + RNA DEL G G - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 68400604 68400604 G - DEL ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 8 0 0.00 6 3 33.33 ENSG00000231512 0 genome.wustl.edu 37 1 243211070 243211070 + RNA SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 243211070 243211070 C T SNP ENSG00000231512 ENST00000420830 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-261C10.2 Clone_based_vega_gene ENSG00000231512 tier1 - - 201 0 0.00 95 30 24.00 ENSG00000260261 0 genome.wustl.edu 37 3 195677979 195677979 + RNA SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 195677979 195677979 T C SNP ENSG00000260261 ENST00000570130 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-480A16.1 Clone_based_vega_gene ENSG00000260261 tier1 - - 8 0 0.00 5 4 44.44 ENSG00000260643 0 genome.wustl.edu 37 16 81087509 81087509 + RNA SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 16 81087509 81087509 G T SNP ENSG00000260643 ENST00000564536 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors RP11-303E16.8 Clone_based_vega_gene ENSG00000260643 tier1 - - 19 0 0.00 7 4 36.36 FADS2 0 genome.wustl.edu 37 11 61605250 61605250 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 61605250 61605250 G T SNP FADS2 ENST00000278840 human ensembl 74_37 +1 known missense c.208 p.D70Y 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS2 HGNC ENSG00000134824 87 0 0.00 76 4 5.00 FAM126B 0 genome.wustl.edu 37 2 201887609 201887609 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 201887609 201887609 C A SNP FAM126B ENST00000418596 human ensembl 74_37 -1 known missense c.98 p.R33L 1.000 pfam_Hyccin pfam_Hyccin - no_errors FAM126B HGNC ENSG00000155744 93 0 0.00 68 4 5.56 FAM127A 0 genome.wustl.edu 37 X 134167513 134167513 + RNA SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 X 134167513 134167513 A G SNP FAM127A ENST00000464369 human ensembl 74_37 +1 known rna NULL NULL 0.795 - - - no_errors FAM127A HGNC ENSG00000134590 tier1 - - 63 0 0.00 22 7 24.14 FAM153B 0 genome.wustl.edu 37 5 175530248 175530248 + Frame_Shift_Del DEL T T - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 175530248 175530248 T - DEL FAM153B ENST00000253490 human ensembl 74_37 +1 known frame_shift_del c.683 p.Q229fs 0.000 NULL prints_FAM153 - no_errors FAM153B HGNC ENSG00000182230 tier1 427 0 0.00 226 86 27.56 FAM189B 0 genome.wustl.edu 37 1 155221327 155221327 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 155221327 155221327 T A SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known missense c.860 p.Y287F 1.000 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 tier1 - - 74 0 0.00 58 14 19.44 FAM189B 0 genome.wustl.edu 37 1 155221328 155221328 + Missense_Mutation SNP A A T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 155221328 155221328 A T SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known missense c.859 p.Y287N 0.993 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 tier1 - - 75 0 0.00 59 14 19.18 FAM208B 0 genome.wustl.edu 37 10 5754877 5754877 + RNA SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 5754877 5754877 A G SNP FAM208B ENST00000463468 human ensembl 74_37 +1 known rna NULL NULL 0.944 - - - no_errors FAM208B HGNC ENSG00000108021 tier1 - - 119 0 0.00 42 16 27.59 FANCG 0 genome.wustl.edu 37 9 35077348 35077348 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 35077348 35077348 G T SNP FANCG ENST00000378643 human ensembl 74_37 -1 known missense c.559 p.P187T 0.952 superfamily_Sig_transdc_His_kin_Hpt_dom superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 tier1 - - 99 0 0.00 68 4 5.56 FAT2 0 genome.wustl.edu 37 5 150923012 150923012 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 150923012 150923012 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.7676 p.A2559V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 66 0 0.00 32 8 20.00 FBXO15 0 genome.wustl.edu 37 18 71814970 71814970 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 18 71814970 71814970 C G SNP FBXO15 ENST00000419743 human ensembl 74_37 -1 known missense c.51 p.Q17H 0.009 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO15 HGNC ENSG00000141665 tier1 - - 54 0 0.00 12 9 40.91 FCGBP 0 genome.wustl.edu 37 19 40376662 40376662 + Missense_Mutation SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 40376662 40376662 G C SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.11760 p.H3920Q 0.001 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 rs79630345 - 76 0 0.00 15 4 21.05 FDPS 0 genome.wustl.edu 37 1 155290347 155290347 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 155290347 155290347 C A SNP FDPS ENST00000356657 human ensembl 74_37 +1 known missense c.1207 p.P403T 1.000 superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 53 0 0.00 32 7 17.95 FLG 0 genome.wustl.edu 37 1 152277313 152277313 + Nonsense_Mutation SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 152277313 152277313 G C SNP FLG ENST00000368799 human ensembl 74_37 -1 known nonsense c.10049 p.S3350* 0.002 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 127 0 0.00 83 18 17.65 FMO2 0 genome.wustl.edu 37 1 171154891 171154891 + Silent SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 171154891 171154891 T C SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known silent c.39 p.S13 0.721 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 tier1 - - 156 0 0.00 70 12 14.63 FRY 0 genome.wustl.edu 37 13 32676113 32676113 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 13 32676113 32676113 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.284 p.T95I 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 77 0 0.00 31 2 6.06 GCC1 0 genome.wustl.edu 37 7 127231635 127231636 + RNA INS - - T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 127231635 127231636 - T INS GCC1 ENST00000473728 human ensembl 74_37 -1 known rna NULL NULL 0.929:0.928 - - - no_errors GCC1 HGNC ENSG00000179562 tier1 25 0 0.00 29 4 12.12 GCN1L1 0 genome.wustl.edu 37 12 120612974 120612974 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 120612974 120612974 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.1084 p.V362I 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 66 0 0.00 36 2 5.26 GCNT4 0 genome.wustl.edu 37 5 74325366 74325366 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 74325366 74325366 C T SNP GCNT4 ENST00000322348 human ensembl 74_37 -1 known missense c.497 p.R166H 0.023 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 38 0 0.00 31 2 6.06 GLIS1 0 genome.wustl.edu 37 1 54060185 54060185 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 54060185 54060185 C G SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.391 p.E131Q 0.026 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 tier1 - - 35 0 0.00 9 5 35.71 GNAS 0 genome.wustl.edu 37 20 57415789 57415789 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 57415789 57415789 C T SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.628 p.P210S 0.135 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 69 0 0.00 54 4 6.90 GRHL1 0 genome.wustl.edu 37 2 10098951 10098951 + Frame_Shift_Del DEL G G - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 10098951 10098951 G - DEL GRHL1 ENST00000324907 human ensembl 74_37 +1 known frame_shift_del c.244 p.E82fs 0.948 NULL pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 tier1 88 0 0.00 26 55 67.90 HDDC2 0 genome.wustl.edu 37 6 125614053 125614053 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 125614053 125614053 T A SNP HDDC2 ENST00000398153 human ensembl 74_37 -1 known missense c.312 p.E104D 1.000 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 tier1 - - 73 0 0.00 19 25 56.82 HEATR5A 0 genome.wustl.edu 37 14 31819037 31819037 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 14 31819037 31819037 T A SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.2648 p.D883V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 tier1 - - 50 0 0.00 35 4 10.26 HEMK1 0 genome.wustl.edu 37 3 50616342 50616342 + Frame_Shift_Del DEL C C - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 50616342 50616342 C - DEL HEMK1 ENST00000232854 human ensembl 74_37 +1 known frame_shift_del c.755 p.P253fs 0.998 pfam_Small_mtfrase_dom,pfam_Methyltransf_11,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK - no_errors HEMK1 HGNC ENSG00000114735 tier1 45 0 0.00 27 2 6.90 HERC2 0 genome.wustl.edu 37 15 28451412 28451412 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 28451412 28451412 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.7186 p.A2396T 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 215 0 0.00 40 64 61.54 HIVEP2 0 genome.wustl.edu 37 6 143074876 143074876 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 143074876 143074876 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.6709 p.V2237I 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 tier1 - - 117 0 0.00 66 5 7.04 HMG20B 0 genome.wustl.edu 37 19 3576972 3576972 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 3576972 3576972 G T SNP HMG20B ENST00000333651 human ensembl 74_37 +1 known missense c.675 p.Q225H 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMG20B HGNC ENSG00000064961 tier1 - - 85 0 0.00 47 4 7.84 HNRNPCL1 0 genome.wustl.edu 37 1 12908030 12908030 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 12908030 12908030 G A SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.113 p.S38F 0.998 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 tier1 - - 375 0 0.00 217 23 9.58 HYDIN 0 genome.wustl.edu 37 16 70995941 70995941 + Nonsense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 16 70995941 70995941 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative nonsense c.5889 p.W1963* 0.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 22 0 0.00 22 3 12.00 IDH2 0 genome.wustl.edu 37 15 90631610 90631610 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 90631610 90631610 C T SNP IDH2 ENST00000330062 human ensembl 74_37 -1 known missense c.659 p.G220D 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH2 HGNC ENSG00000182054 tier1 - - 80 0 0.00 54 4 6.90 IGF2R 0 genome.wustl.edu 37 6 160430068 160430068 + Nonsense_Mutation SNP A A T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 160430068 160430068 A T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known nonsense c.316 p.R106* 0.000 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 - - 56 0 0.00 26 4 13.33 IL17RD 0 genome.wustl.edu 37 3 57136596 57136596 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 57136596 57136596 G T SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known missense c.890 p.P297H 1.000 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 tier1 - - 99 0 0.00 70 4 5.41 IL1RL2 0 genome.wustl.edu 37 2 102808451 102808451 + Silent SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 102808451 102808451 T C SNP IL1RL2 ENST00000264257 human ensembl 74_37 +1 known silent c.360 p.T120 0.007 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ - no_errors IL1RL2 HGNC ENSG00000115598 tier1 - - 78 0 0.00 55 10 15.38 ILF2 0 genome.wustl.edu 37 1 153641012 153641012 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 153641012 153641012 C T SNP ILF2 ENST00000361891 human ensembl 74_37 -1 known missense c.130 p.V44I 1.000 NULL pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N - no_errors ILF2 HGNC ENSG00000143621 tier1 - - 75 0 0.00 36 4 9.76 IQGAP1 0 genome.wustl.edu 37 15 91025491 91025491 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 91025491 91025491 C T SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.3533 p.A1178V 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 103 0 0.00 66 4 5.71 ITPR2 0 genome.wustl.edu 37 12 26639167 26639167 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 26639167 26639167 G T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.5681 p.T1894K 0.155 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 74 0 0.00 58 4 6.45 JARID2 0 genome.wustl.edu 37 6 15497080 15497080 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 15497080 15497080 G T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.1624 p.A542S 0.993 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 - - 78 0 0.00 32 4 11.11 KCNG1 0 genome.wustl.edu 37 20 49626754 49626754 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 49626754 49626754 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.122 p.R41H 0.999 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 32 0 0.00 23 2 8.00 KCNMA1 0 genome.wustl.edu 37 10 78944583 78944583 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 78944583 78944583 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.694 p.R232W 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 51 0 0.00 25 4 13.79 KDM5A 0 genome.wustl.edu 37 12 438067 438067 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 438067 438067 C T SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known missense c.1902 p.M634I 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 61 0 0.00 52 3 5.45 KIF16B 0 genome.wustl.edu 37 20 16488679 16488679 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 16488679 16488679 T A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.623 p.N208I 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 tier1 - - 61 0 0.00 39 4 9.30 KIF22 0 genome.wustl.edu 37 16 29814198 29814198 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 16 29814198 29814198 C T SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known silent c.1389 p.T463 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 96 0 0.00 92 5 5.15 KMT2A 0 genome.wustl.edu 37 11 118353187 118353187 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 118353187 118353187 G T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.4063 p.V1355L 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 76 0 0.00 41 4 8.89 KRT10 0 genome.wustl.edu 37 17 38975181 38975181 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 38975181 38975181 C T SNP KRT10 ENST00000269576 human ensembl 74_37 -1 known missense c.1606 p.G536S 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 tier1 - - 14 0 0.00 16 5 23.81 KRT10 0 genome.wustl.edu 37 17 38975189 38975191 + In_Frame_Del DEL CCA CCA - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 38975189 38975191 CCA - DEL KRT10 ENST00000269576 human ensembl 74_37 -1 known in_frame_del c.1598_1596 p.G533in_frame_del 0.021:0.020:0.013 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 tier1 13 0 0.00 17 7 29.17 KYNU 0 genome.wustl.edu 37 2 143685256 143685256 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 143685256 143685256 C T SNP KYNU ENST00000264170 human ensembl 74_37 +1 known missense c.319 p.R107C 1.000 superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 tier1 - - 115 0 0.00 67 4 5.63 LARP7 0 genome.wustl.edu 37 4 113574320 113574320 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 113574320 113574320 G T SNP LARP7 ENST00000324052 human ensembl 74_37 +1 known missense c.1504 p.D502Y 1.000 pfam_RRM_3 pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 85 0 0.00 33 4 10.81 LHX1 0 genome.wustl.edu 37 17 35299500 35299500 + Missense_Mutation SNP T T G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 35299500 35299500 T G SNP LHX1 ENST00000254457 human ensembl 74_37 +1 known missense c.679 p.W227G 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 10 0 0.00 3 3 50.00 LINC00205 0 genome.wustl.edu 37 21 46713421 46713421 + RNA SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 21 46713421 46713421 G T SNP LINC00205 ENST00000433465 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors LINC00205 HGNC ENSG00000223768 tier1 - - 93 0 0.00 52 4 7.14 LINGO4 0 genome.wustl.edu 37 1 151773858 151773858 + Silent SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 151773858 151773858 T C SNP LINGO4 ENST00000368820 human ensembl 74_37 -1 known silent c.1323 p.P441 0.896 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,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,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 tier1 - - 42 0 0.00 43 4 8.51 LOC100130264 0 genome.wustl.edu 37 20 19263805 19263805 + RNA SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 19263805 19263805 T A SNP LOC100130264 ENST00000319682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1027G4.3 Clone_based_vega_gene ENSG00000179447 tier1 - - 88 0 0.00 32 4 11.11 LOC641367 0 genome.wustl.edu 37 19 21934236 21934236 + RNA DEL T T - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 21934236 21934236 T - DEL LOC641367 ENST00000596710 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-420K14.6 Clone_based_vega_gene ENSG00000269845 tier1 69 0 0.00 17 2 10.53 LOC644050 0 genome.wustl.edu 37 19 36283304 36283304 + RNA SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 36283304 36283304 G A SNP LOC644050 ENST00000433059 human ensembl 74_37 -1 known rna NULL NULL 0.066 - - - no_errors AC002398.5 Clone_based_vega_gene ENSG00000225872 tier1 - - 49 0 0.00 16 8 33.33 LOC645752 0 genome.wustl.edu 37 15 78207007 78207007 + RNA SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 78207007 78207007 G T SNP LOC645752 ENST00000563349 human ensembl 74_37 -1 known rna NULL NULL 0.230 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 tier1 - - 134 0 0.00 64 6 8.57 LRCH3 0 genome.wustl.edu 37 3 197607434 197607434 + Nonsense_Mutation SNP A A T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 197607434 197607434 A T SNP LRCH3 ENST00000438796 human ensembl 74_37 +1 known nonsense c.2260 p.R754* 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 tier1 - - 62 0 0.00 65 6 8.45 LSM11 0 genome.wustl.edu 37 5 157178533 157178533 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 157178533 157178533 A G SNP LSM11 ENST00000286307 human ensembl 74_37 +1 known missense c.584 p.N195S 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM11 HGNC ENSG00000155858 tier1 - - 76 0 0.00 52 14 21.21 MACF1 0 genome.wustl.edu 37 1 39853455 39853455 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 39853455 39853455 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.8755 p.R2919W 0.896 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_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 53 0 0.00 13 14 51.85 MCHR2 0 genome.wustl.edu 37 6 100391010 100391010 + Silent SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 100391010 100391010 G A SNP MCHR2 ENST00000281806 human ensembl 74_37 -1 known silent c.402 p.A134 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 tier1 - - 57 0 0.00 32 10 23.81 MGA 0 genome.wustl.edu 37 15 42058517 42058517 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 42058517 42058517 A G SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.8237 p.K2746R 0.986 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 80 0 0.00 31 2 6.06 MISP 0 genome.wustl.edu 37 19 757175 757175 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 757175 757175 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.229 p.P77S 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 127 0 0.00 76 4 5.00 MOV10L1 0 genome.wustl.edu 37 22 50599160 50599160 + Missense_Mutation SNP T T G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 22 50599160 50599160 T G SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.3368 p.L1123W 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 tier1 - - 84 0 0.00 42 5 10.64 MROH7 0 genome.wustl.edu 37 1 55175632 55175632 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 55175632 55175632 G T SNP MROH7 ENST00000421030 human ensembl 74_37 +1 known missense c.3744 p.L1248F 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7 HGNC ENSG00000184313 41 0 0.00 28 3 9.68 MRPL11 0 genome.wustl.edu 37 11 66204663 66204663 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 66204663 66204663 C T SNP MRPL11 ENST00000310999 human ensembl 74_37 -1 known missense c.385 p.A129T 0.993 pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ - no_errors MRPL11 HGNC ENSG00000174547 79 0 0.00 72 4 5.26 MT1M 0 genome.wustl.edu 37 16 56667702 56667702 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 16 56667702 56667702 C T SNP MT1M ENST00000379818 human ensembl 74_37 +1 known missense c.134 p.A45V 1.000 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1M HGNC ENSG00000205364 tier1 - - 99 0 0.00 58 44 43.14 MTMR3 0 genome.wustl.edu 37 22 30387632 30387632 + Nonsense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 22 30387632 30387632 G T SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known nonsense c.433 p.E145* 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 tier1 - - 72 0 0.00 44 4 8.33 MUC16 0 genome.wustl.edu 37 19 9071105 9071105 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 9071105 9071105 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.16341 p.S5447 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 52 0 0.00 38 7 15.56 MUC4 0 genome.wustl.edu 37 3 195509267 195509267 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 195509267 195509267 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.9184 p.P3062T 0.127 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 12 0 0.00 6 6 50.00 MUC4 0 genome.wustl.edu 37 3 195509950 195509950 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 195509950 195509950 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.8501 p.P2834L 0.911 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 219 0 0.00 277 40 12.54 MUC5B 0 genome.wustl.edu 37 11 1269981 1269981 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 1269981 1269981 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.11880 p.T3960 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 174 0 0.00 73 29 28.43 NALCN 0 genome.wustl.edu 37 13 101717816 101717816 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 13 101717816 101717816 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4544 p.M1515T 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 56 0 0.00 31 4 11.43 NCOA6 0 genome.wustl.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 33330968 33330970 TGC - DEL NCOA6 ENST00000359003 human ensembl 74_37 -1 known in_frame_del c.3092_3090 p.Q1032in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 tier1 60 0 0.00 39 4 9.30 NLRC4 0 genome.wustl.edu 37 2 32460524 32460524 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 32460524 32460524 C G SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.2728 p.V910L 0.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 tier1 - - 52 0 0.00 24 7 22.58 NOBOX 0 genome.wustl.edu 37 7 144098371 144098371 + Frame_Shift_Del DEL C C - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 144098371 144098371 C - DEL NOBOX ENST00000467773 human ensembl 74_37 -1 known frame_shift_del c.612 p.K205fs 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 tier1 62 0 0.00 40 11 21.57 NPHS2 0 genome.wustl.edu 37 1 179533884 179533884 + Missense_Mutation SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 179533884 179533884 G C SNP NPHS2 ENST00000367615 human ensembl 74_37 -1 known missense c.319 p.L107V 0.298 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 tier1 - - 106 0 0.00 72 7 8.86 OFD1 0 genome.wustl.edu 37 X 13787349 13787350 + RNA INS - - T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 X 13787349 13787350 - T INS OFD1 ENST00000490265 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.002 - - - no_errors OFD1 HGNC ENSG00000046651 tier1 34 0 0.00 17 3 15.00 OR4S2 0 genome.wustl.edu 37 11 55418475 55418475 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 55418475 55418475 C G SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known missense c.96 p.F32L 0.992 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 tier1 - - 116 0 0.00 81 24 22.86 OR5V1 0 genome.wustl.edu 37 6 29323224 29323224 + Missense_Mutation SNP A A T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 29323224 29323224 A T SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.749 p.L250H 0.132 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 40 0 0.00 19 3 13.64 PACS2 0 genome.wustl.edu 37 14 105847331 105847331 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 14 105847331 105847331 A G SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known missense c.1163 p.E388G 0.773 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 tier1 - - 122 0 0.00 76 4 5.00 PCCB 0 genome.wustl.edu 37 3 136012597 136012597 + Splice_Site SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 136012597 136012597 G T SNP PCCB ENST00000251654 human ensembl 74_37 +1 known splice_site c.655-1 e7-1 1.000 - - - no_errors PCCB HGNC ENSG00000114054 59 0 0.00 32 2 5.71 PCDH15 0 genome.wustl.edu 37 10 55955638 55955638 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 55955638 55955638 G T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1110 p.D370E 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 55 0 0.00 25 2 7.41 PCDHA8 0 genome.wustl.edu 37 5 140221052 140221052 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 140221052 140221052 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.146 p.A49V 0.997 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 143 0 0.00 84 5 5.62 PCDHB18 0 genome.wustl.edu 37 5 140615725 140615725 + RNA SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 140615725 140615725 C T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PCDHB18 HGNC ENSG00000146001 tier1 - - 225 0 0.00 117 36 23.53 PCDHGB2 0 genome.wustl.edu 37 5 140741229 140741229 + Silent SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 140741229 140741229 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known silent c.1527 p.A509 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 66 0 0.00 29 2 6.45 PCDHGB3 0 genome.wustl.edu 37 5 140752321 140752321 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 140752321 140752321 G T SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.2360 p.W787L 0.072 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 tier1 - - 43 0 0.00 14 10 41.67 PCDHGB7 0 genome.wustl.edu 37 5 140797618 140797618 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 140797618 140797618 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known silent c.192 p.R64 0.871 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 tier1 - - 67 0 0.00 46 18 28.12 PCNX 0 genome.wustl.edu 37 14 71445317 71445317 + Missense_Mutation SNP A A C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 14 71445317 71445317 A C SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.2263 p.N755H 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 tier1 - - 80 0 0.00 32 19 37.25 PCSK1 0 genome.wustl.edu 37 5 95728920 95728920 + Nonsense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 95728920 95728920 G A SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known nonsense c.2047 p.Q683* 0.143 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 92 0 0.00 52 4 7.14 PDE6B 0 genome.wustl.edu 37 4 657651 657651 + Silent SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 657651 657651 G A SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known silent c.2013 p.L671 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 tier1 - - 53 0 0.00 37 4 9.76 PDS5B 0 genome.wustl.edu 37 13 33226107 33226107 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 13 33226107 33226107 C T SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.275 p.A92V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 110 0 0.00 47 4 7.84 PELI3 0 genome.wustl.edu 37 11 66239874 66239874 + Missense_Mutation SNP A A C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 66239874 66239874 A C SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.389 p.Y130S 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 tier1 - - 56 0 0.00 49 20 28.99 PEX2 0 genome.wustl.edu 37 8 77895540 77895540 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 8 77895540 77895540 G T SNP PEX2 ENST00000357039 human ensembl 74_37 -1 known missense c.875 p.P292Q 1.000 NULL pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 tier1 - - 115 0 0.00 65 4 5.80 PGAM5 0 genome.wustl.edu 37 12 133291604 133291604 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 133291604 133291604 C T SNP PGAM5 ENST00000498926 human ensembl 74_37 +1 known missense c.352 p.R118C 0.993 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors PGAM5 HGNC ENSG00000247077 tier1 - - 33 0 0.00 19 7 26.92 PHTF1 0 genome.wustl.edu 37 1 114253027 114253027 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 114253027 114253027 C A SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known missense c.1118 p.R373L 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 tier1 - - 66 0 0.00 14 20 58.82 PIGF 0 genome.wustl.edu 37 2 46842241 46842241 + Silent SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 46842241 46842241 G T SNP PIGF ENST00000281382 human ensembl 74_37 -1 known silent c.63 p.I21 0.989 pfam_GPI_biosynthesis_protein_Pig-F pfam_GPI_biosynthesis_protein_Pig-F - no_errors PIGF HGNC ENSG00000151665 tier1 - - 89 0 0.00 75 4 5.06 PITX3 0 genome.wustl.edu 37 10 103990440 103990442 + In_Frame_Del DEL GCG GCG - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 103990440 103990442 GCG - DEL PITX3 ENST00000370002 human ensembl 74_37 -1 known in_frame_del c.740_738 p.A250in_frame_del 0.722:0.728:0.588 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX3 HGNC ENSG00000107859 tier1 53 0 0.00 15 3 16.67 PLEC 0 genome.wustl.edu 37 8 144995674 144995674 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 8 144995674 144995674 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8726 p.R2909H 0.996 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 rs201916690 - 61 0 0.00 33 4 10.81 PML 0 genome.wustl.edu 37 15 74290730 74290730 + Missense_Mutation SNP A A T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 74290730 74290730 A T SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.515 p.Q172L 0.053 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 tier1 - - 14 0 0.00 4 6 60.00 POLR1A 0 genome.wustl.edu 37 2 86327110 86327110 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 86327110 86327110 T A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.263 p.Y88F 1.000 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 tier1 - - 102 0 0.00 46 50 52.08 POMP 0 genome.wustl.edu 37 13 29242633 29242633 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 13 29242633 29242633 G T SNP POMP ENST00000380842 human ensembl 74_37 +1 known missense c.186 p.M62I 1.000 pfam_UMP1 pfam_UMP1 - no_errors POMP HGNC ENSG00000132963 63 0 0.00 32 3 8.57 PPA1 0 genome.wustl.edu 37 10 71978538 71978538 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 71978538 71978538 C A SNP PPA1 ENST00000373232 human ensembl 74_37 -1 known missense c.159 p.W53C 1.000 pfam_Pyrophosphatase,superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA1 HGNC ENSG00000180817 79 0 0.00 30 3 9.09 PPFIBP2 0 genome.wustl.edu 37 11 7627226 7627226 + Missense_Mutation SNP A A T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 7627226 7627226 A T SNP PPFIBP2 ENST00000530181 human ensembl 74_37 +1 putative missense c.37 p.R13W 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 tier1 - - 118 0 0.00 50 4 7.41 PPIP5K1 0 genome.wustl.edu 37 15 43827200 43827200 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 43827200 43827200 C A SNP PPIP5K1 ENST00000420765 human ensembl 74_37 -1 known missense c.3974 p.C1325F 0.000 NULL pfam_His_Pase_superF_clade-2,superfamily_Cys_alpha_HP_mot_SF - no_errors PPIP5K1 HGNC ENSG00000168781 tier1 - - 77 0 0.00 27 10 27.03 PPP3CC 0 genome.wustl.edu 37 8 22368688 22368688 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 8 22368688 22368688 C G SNP PPP3CC ENST00000240139 human ensembl 74_37 +1 known missense c.574 p.L192V 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 tier1 - - 85 0 0.00 65 20 23.53 PRDM9 0 genome.wustl.edu 37 5 23522934 23522934 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 23522934 23522934 C T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.822 p.G274 0.990 pfscan_SET_dom pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 78 0 0.00 94 17 15.32 PRDM9 0 genome.wustl.edu 37 5 23527045 23527045 + Silent SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 23527045 23527045 C A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.1848 p.G616 0.948 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 144 0 0.00 167 19 10.11 PRPF39 0 genome.wustl.edu 37 14 45564749 45564749 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 14 45564749 45564749 C A SNP PRPF39 ENST00000355765 human ensembl 74_37 +1 known missense c.307 p.Q103K 1.000 NULL smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 34 0 0.00 16 2 11.11 PRUNE2 0 genome.wustl.edu 37 9 79321817 79321817 + Missense_Mutation SNP T T G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 79321817 79321817 T G SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.4296 p.E1432D 0.086 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 - - 32 0 0.00 21 9 30.00 PSG1 0 genome.wustl.edu 37 19 43373155 43373155 + Silent SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 43373155 43373155 G A SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known silent c.741 p.N247 0.004 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 244 0 0.00 111 32 22.38 PTCH1 0 genome.wustl.edu 37 9 98242361 98242362 + Frame_Shift_Ins INS - - A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 98242361 98242362 - A INS PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_ins c.957_956 p.M319fs 1.000:1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 tier1 88 0 0.00 14 33 70.21 PTGFRN 0 genome.wustl.edu 37 1 117504077 117504077 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 117504077 117504077 G A SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known missense c.1426 p.G476R 0.994 smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 tier1 - - 96 0 0.00 63 4 5.97 PTPMT1 0 genome.wustl.edu 37 11 47593922 47593922 + RNA SNP A A C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 11 47593922 47593922 A C SNP PTPMT1 ENST00000527079 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors PTPMT1 HGNC ENSG00000110536 tier1 - - 70 0 0.00 55 7 11.29 PTPN14 0 genome.wustl.edu 37 1 214560236 214560236 + Silent SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 214560236 214560236 G A SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.1017 p.P339 0.997 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 tier1 rs138976528 - 62 0 0.00 45 15 25.00 RALGAPB 0 genome.wustl.edu 37 20 37198618 37198618 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 37198618 37198618 G A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.4042 p.V1348M 1.000 pfscan_Rap_GAP_dom superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 20 0 0.00 25 2 7.41 RGR 0 genome.wustl.edu 37 10 86018276 86018276 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 86018276 86018276 A G SNP RGR ENST00000359452 human ensembl 74_37 +1 known missense c.769 p.I257V 0.968 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_RPE_GPCR,prints_GPCR_Rhodpsn - no_errors RGR HGNC ENSG00000148604 tier1 - - 79 0 0.00 43 9 17.31 RIF1 0 genome.wustl.edu 37 2 152325154 152325154 + Splice_Site SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 152325154 152325154 G C SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known splice_site c.6826-1 e32-1 1.000 - - - no_errors RIF1 HGNC ENSG00000080345 tier1 - - 79 0 0.00 48 20 29.41 RMND5A 0 genome.wustl.edu 37 2 87000518 87000518 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 87000518 87000518 A G SNP RMND5A ENST00000283632 human ensembl 74_37 +1 known missense c.1160 p.K387R 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5A HGNC ENSG00000153561 tier1 rs202224251 - 100 0 0.00 31 33 51.56 RN7SKP231 0 genome.wustl.edu 37 8 92607282 92607283 + RNA INS - - T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 8 92607282 92607283 0 T INS RN7SKP231 ENST00000363281 human ensembl 74_37 +1 known rna NULL NULL 0.027:0.030 - - - no_errors RN7SKP231 HGNC ENSG00000200151 9 0 0.00 4 2 33.33 RNF213 0 genome.wustl.edu 37 17 78353431 78353431 + Silent SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 78353431 78353431 G T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.13557 p.P4519 0.145 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 53 0 0.00 50 3 5.66 RNF32 0 genome.wustl.edu 37 7 156450240 156450240 + Silent SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 156450240 156450240 G T SNP RNF32 ENST00000317955 human ensembl 74_37 +1 known silent c.423 p.L141 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 tier1 - - 53 0 0.00 43 4 8.51 RNFT1 0 genome.wustl.edu 37 17 58040592 58040592 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 58040592 58040592 G A SNP RNFT1 ENST00000305783 human ensembl 74_37 -1 known missense c.110 p.A37V 0.799 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT1 HGNC ENSG00000189050 65 0 0.00 66 4 5.71 RPTOR 0 genome.wustl.edu 37 17 78765283 78765283 + Silent SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 78765283 78765283 T C SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.864 p.P288 0.861 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 tier1 - - 80 0 0.00 72 4 5.26 RTEL1 0 genome.wustl.edu 37 20 62319727 62319727 + Silent SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 62319727 62319727 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known silent c.1710 p.L570 1.000 superfamily_P-loop_NTPase,smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 tier1 - - 30 0 0.00 26 4 13.33 RUNX2 0 genome.wustl.edu 37 6 45390503 45390505 + In_Frame_Del DEL GCG GCG - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 45390503 45390505 GCG - DEL RUNX2 ENST00000352853 human ensembl 74_37 +1 known in_frame_del c.436_438 p.A149in_frame_del 0.990:1.000:1.000 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 42 0 0.00 27 3 10.00 SDK2 0 genome.wustl.edu 37 17 71429905 71429905 + Silent SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 71429905 71429905 C A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known silent c.1278 p.S426 0.982 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 46 0 0.00 32 3 8.33 SECISBP2 0 genome.wustl.edu 37 9 91940488 91940488 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 91940488 91940488 A G SNP SECISBP2 ENST00000375807 human ensembl 74_37 +1 known missense c.329 p.Q110R 0.123 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 57 0 0.00 37 2 5.13 SEL1L3 0 genome.wustl.edu 37 4 25759360 25759360 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 25759360 25759360 G T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.3136 p.L1046I 0.998 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 tier1 - - 61 0 0.00 24 4 14.29 SEMA5A 0 genome.wustl.edu 37 5 9063121 9063121 + Missense_Mutation SNP T T G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 9063121 9063121 T G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.2396 p.D799A 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 tier1 - - 70 0 0.00 48 9 15.79 SEMA5B 0 genome.wustl.edu 37 3 122646663 122646663 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 122646663 122646663 G T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.986 p.A329D 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 tier1 - - 68 0 0.00 71 4 5.33 SETD1B 0 genome.wustl.edu 37 12 122248293 122248294 + Frame_Shift_Ins INS - - T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 122248293 122248294 - T INS SETD1B ENST00000267197 human ensembl 74_37 +1 known frame_shift_ins c.1442_1443 p.T482fs 1.000:0.999 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 46 0 0.00 14 2 12.50 SGK1 0 genome.wustl.edu 37 6 134491990 134491990 + Missense_Mutation SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 134491990 134491990 T C SNP SGK1 ENST00000367858 human ensembl 74_37 -1 known missense c.1387 p.I463V 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK1 HGNC ENSG00000118515 tier1 - - 53 0 0.00 41 19 31.67 SH2D5 0 genome.wustl.edu 37 1 21050738 21050738 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 21050738 21050738 G T SNP SH2D5 ENST00000444387 human ensembl 74_37 -1 known missense c.637 p.L213M 0.899 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 tier1 - - 19 0 0.00 4 3 42.86 SH3RF2 0 genome.wustl.edu 37 5 145442255 145442255 + Silent SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 145442255 145442255 C A SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known silent c.2181 p.P727 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 tier1 - - 59 0 0.00 54 4 6.90 SIN3B 0 genome.wustl.edu 37 19 16973357 16973357 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 16973357 16973357 C T SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.1253 p.A418V 1.000 pfam_HDAC_interact,smart_HDAC_interact pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 tier1 - - 49 0 0.00 30 4 11.76 SLC25A2 0 genome.wustl.edu 37 5 140683267 140683267 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 140683267 140683267 C A SNP SLC25A2 ENST00000239451 human ensembl 74_37 -1 known missense c.166 p.A56S 0.007 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A2 HGNC ENSG00000120329 tier1 - - 61 0 0.00 31 10 24.39 SLC25A5 0 genome.wustl.edu 37 X 118604452 118604452 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 X 118604452 118604452 A G SNP SLC25A5 ENST00000317881 human ensembl 74_37 +1 known missense c.715 p.M239V 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 tier1 - - 32 0 0.00 6 10 62.50 SLC2A9 0 genome.wustl.edu 37 4 9982321 9982321 + Silent SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 9982321 9982321 G T SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known silent c.576 p.I192 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 tier1 - - 19 0 0.00 12 6 33.33 SLC45A1 0 genome.wustl.edu 37 1 8386005 8386005 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 8386005 8386005 C T SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known silent c.720 p.S240 0.953 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 tier1 - - 83 0 0.00 52 4 7.14 SLC5A4 0 genome.wustl.edu 37 22 32621800 32621800 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 22 32621800 32621800 G T SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.1291 p.L431I 0.004 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 tier1 - - 126 0 0.00 63 4 5.97 SLC9A5 0 genome.wustl.edu 37 16 67298363 67298363 + Missense_Mutation SNP A A T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 16 67298363 67298363 A T SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.1951 p.T651S 1.000 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 tier1 - - 108 0 0.00 79 10 10.99 SMARCA2 0 genome.wustl.edu 37 9 2084191 2084191 + Frame_Shift_Del DEL G G - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 2084191 2084191 G - DEL SMARCA2 ENST00000349721 human ensembl 74_37 +1 known frame_shift_del c.2521 p.A841fs 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 31 0 0.00 5 2 28.57 SMEK2 0 genome.wustl.edu 37 2 55826102 55826102 + Missense_Mutation SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 55826102 55826102 T C SNP SMEK2 ENST00000272313 human ensembl 74_37 -1 known missense c.371 p.E124G 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 tier1 - - 31 0 0.00 20 4 16.67 SNRNP70 0 genome.wustl.edu 37 19 49593575 49593575 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 49593575 49593575 C A SNP SNRNP70 ENST00000598441 human ensembl 74_37 +1 known missense c.175 p.R59S 0.992 pfam_U1snRNP70_N pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP70 HGNC ENSG00000104852 tier1 - - 86 0 0.00 31 4 11.43 SNX5 0 genome.wustl.edu 37 20 17922937 17922937 + RNA SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 17922937 17922937 T A SNP SNX5 ENST00000476648 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors SNX5 HGNC ENSG00000089006 tier1 - - 65 0 0.00 17 8 32.00 SOX11 0 genome.wustl.edu 37 2 5833282 5833284 + In_Frame_Del DEL CGG CGG - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 CGG CGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 5833282 5833284 CGG - DEL SOX11 ENST00000322002 human ensembl 74_37 +1 known in_frame_del c.429_431 p.G147in_frame_del 0.780:0.872:0.954 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 tier1 32 0 0.00 21 4 16.00 SPAG17 0 genome.wustl.edu 37 1 118533511 118533511 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 118533511 118533511 C T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.5494 p.E1832K 0.999 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 53 0 0.00 32 2 5.88 SPAG8 0 genome.wustl.edu 37 9 35811389 35811389 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 35811389 35811389 T A SNP SPAG8 ENST00000340291 human ensembl 74_37 -1 known missense c.654 p.R218S 0.000 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 tier1 - - 105 0 0.00 32 10 23.81 SPAG8 0 genome.wustl.edu 37 9 35811390 35811390 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 35811390 35811390 C G SNP SPAG8 ENST00000340291 human ensembl 74_37 -1 known missense c.653 p.R218T 0.000 NULL prints_Antifreeze_1 - no_errors SPAG8 HGNC ENSG00000137098 tier1 - - 105 0 0.00 32 10 23.81 SS18L1 0 genome.wustl.edu 37 20 60736518 60736518 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 60736518 60736518 C T SNP SS18L1 ENST00000370848 human ensembl 74_37 +1 known silent c.267 p.G89 0.998 NULL pfam_SS18_fam - no_errors SS18L1 HGNC ENSG00000184402 tier1 - - 38 0 0.00 16 9 36.00 SSTR4 0 genome.wustl.edu 37 20 23016315 23016315 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 23016315 23016315 C A SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.195 p.N65K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 28 0 0.00 26 2 7.14 STK11IP 0 genome.wustl.edu 37 2 220479262 220479262 + Missense_Mutation SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 220479262 220479262 G C SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel missense c.2863 p.V955L 1.000 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 65 0 0.00 33 3 8.33 STK16 0 genome.wustl.edu 37 2 220113230 220113230 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 220113230 220113230 G T SNP STK16 ENST00000396738 human ensembl 74_37 +1 known missense c.867 p.Q289H 0.912 pfam_Ser-Thr/Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_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_dom - no_errors STK16 HGNC ENSG00000115661 tier1 - - 41 0 0.00 25 4 13.79 STK4 0 genome.wustl.edu 37 20 43629138 43629138 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 43629138 43629138 G T SNP STK4 ENST00000372806 human ensembl 74_37 +1 known missense c.937 p.D313Y 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK4 HGNC ENSG00000101109 tier1 - - 116 0 0.00 57 53 48.18 STXBP5L 0 genome.wustl.edu 37 3 121100286 121100286 + Missense_Mutation SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 121100286 121100286 G C SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.2566 p.G856R 1.000 pfam_Lgl_C_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 tier1 - - 118 0 0.00 111 16 12.60 SUPT20H 0 genome.wustl.edu 37 13 37619410 37619410 + Missense_Mutation SNP A A T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 13 37619410 37619410 A T SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known missense c.266 p.L89Q 1.000 pfam_Spt20 pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 tier1 - - 112 0 0.00 52 4 7.14 SUSD2 0 genome.wustl.edu 37 22 24577511 24577511 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 22 24577511 24577511 G T SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.24 p.W8C 0.883 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 tier1 - - 42 0 0.00 22 4 15.38 SYNRG 0 genome.wustl.edu 37 17 35913272 35913273 + Frame_Shift_Ins INS - - A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 35913272 35913273 - A INS SYNRG ENST00000339208 human ensembl 74_37 -1 known frame_shift_ins c.2553_2552 p.M851fs 1.000:1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 tier1 57 0 0.00 36 8 18.18 TAF3 0 genome.wustl.edu 37 10 8019276 8019276 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 8019276 8019276 C A SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.2305 p.Q769K 1.000 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 tier1 - - 85 0 0.00 44 20 31.25 TARS 0 genome.wustl.edu 37 5 33441104 33441104 + RNA SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 5 33441104 33441104 C G SNP TARS ENST00000502508 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors TARS HGNC ENSG00000113407 tier1 - - 44 0 0.00 23 12 34.29 TBC1D3P2 0 genome.wustl.edu 37 17 60342940 60342940 + RNA SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 60342940 60342940 C A SNP TBC1D3P2 ENST00000339120 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 tier1 - - 13 0 0.00 1 2 66.67 TBC1D9 0 genome.wustl.edu 37 4 141590791 141590791 + Silent SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 141590791 141590791 T C SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known silent c.1434 p.K478 0.994 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 tier1 - - 65 0 0.00 36 22 37.93 TFIP11 0 genome.wustl.edu 37 22 26906094 26906094 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 22 26906094 26906094 C A SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.145 p.A49S 1.000 pfam_TIP_N pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 tier1 - - 77 0 0.00 46 11 19.30 TLR8 0 genome.wustl.edu 37 X 12938288 12938288 + Missense_Mutation SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 X 12938288 12938288 T C SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.1129 p.Y377H 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 tier1 - - 103 0 0.00 19 36 65.45 TM7SF3 0 genome.wustl.edu 37 12 27133537 27133537 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 27133537 27133537 T A SNP TM7SF3 ENST00000343028 human ensembl 74_37 -1 known missense c.998 p.Y333F 0.970 NULL NULL - no_errors TM7SF3 HGNC ENSG00000064115 tier1 - - 65 0 0.00 21 15 41.67 TMED1 0 genome.wustl.edu 37 19 10945729 10945729 + Nonsense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 10945729 10945729 C A SNP TMED1 ENST00000214869 human ensembl 74_37 -1 known nonsense c.346 p.E116* 1.000 pfam_GOLD,superfamily_GOLD,pfscan_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED1 HGNC ENSG00000099203 67 0 0.00 35 2 5.26 TMEM257 0 genome.wustl.edu 37 X 144909318 144909318 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 X 144909318 144909318 C A SNP TMEM257 ENST00000408967 human ensembl 74_37 +1 known missense c.123 p.F41L 0.000 NULL NULL - no_errors TMEM257 HGNC ENSG00000221870 tier1 - - 74 0 0.00 7 31 81.58 TNFRSF11B 0 genome.wustl.edu 37 8 119941094 119941094 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 8 119941094 119941094 G T SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known missense c.475 p.P159T 0.869 pirsf_TNFR_11B,smart_TNFR/NGFR_Cys_rich_reg pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 135 0 0.00 61 4 6.15 TOP2B 0 genome.wustl.edu 37 3 25674279 25674279 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 25674279 25674279 G A SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.1033 p.R345W 1.000 pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,prints_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 tier1 - - 105 0 0.00 56 4 6.67 TP53 0 genome.wustl.edu 37 17 7579369 7579369 + Missense_Mutation SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 17 7579369 7579369 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.318 p.S106R 0.564 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 116 0 0.00 28 61 68.54 TRIAP1 0 genome.wustl.edu 37 12 120882537 120882537 + RNA SNP A A C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 120882537 120882537 A C SNP TRIAP1 ENST00000302432 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors TRIAP1 HGNC ENSG00000170855 tier1 - - 43 0 0.00 5 10 66.67 TRIAP1 0 genome.wustl.edu 37 12 120882648 120882648 + RNA SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 120882648 120882648 C T SNP TRIAP1 ENST00000302432 human ensembl 74_37 -1 putative rna NULL NULL 0.006 - - - no_errors TRIAP1 HGNC ENSG00000170855 tier1 - - 72 0 0.00 34 4 10.53 TRIP10 0 genome.wustl.edu 37 19 6750388 6750388 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 6750388 6750388 C T SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.1481 p.A494V 0.002 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 tier1 - - 95 0 0.00 49 15 23.44 TRPC4AP 0 genome.wustl.edu 37 20 33632411 33632411 + Silent SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 20 33632411 33632411 T C SNP TRPC4AP ENST00000252015 human ensembl 74_37 -1 known silent c.762 p.S254 0.587 NULL pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 tier1 - - 53 0 0.00 35 4 10.26 TTC13 0 genome.wustl.edu 37 1 231061301 231061301 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 231061301 231061301 T A SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.1550 p.E517V 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 tier1 - - 82 0 0.00 59 4 6.35 TTC29 0 genome.wustl.edu 37 4 147795959 147795959 + Silent SNP A A T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 147795959 147795959 A T SNP TTC29 ENST00000398886 human ensembl 74_37 -1 known silent c.786 p.T262 0.870 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 tier1 - - 48 0 0.00 33 4 10.81 TTN 0 genome.wustl.edu 37 2 179456146 179456146 + Missense_Mutation SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 179456146 179456146 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.52602 p.I17534M 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 48 0 0.00 40 5 11.11 TWF1 0 genome.wustl.edu 37 12 44191174 44191174 + Nonsense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 12 44191174 44191174 T A SNP TWF1 ENST00000325127 human ensembl 74_37 -1 known nonsense c.793 p.K265* 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF1 HGNC ENSG00000151239 tier1 - - 63 0 0.00 35 4 10.26 UNC5C 0 genome.wustl.edu 37 4 96127865 96127865 + Missense_Mutation SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 96127865 96127865 C T SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1816 p.V606I 0.988 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 tier1 - - 82 0 0.00 19 9 32.14 USH2A 0 genome.wustl.edu 37 1 216061896 216061896 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 216061896 216061896 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.8095 p.R2699W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 29 0 0.00 26 2 7.14 USP31 0 genome.wustl.edu 37 16 23093847 23093847 + Missense_Mutation SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 16 23093847 23093847 T C SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.1862 p.H621R 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 tier1 - - 70 0 0.00 34 29 46.03 UTRN 0 genome.wustl.edu 37 6 144800995 144800995 + Silent SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 144800995 144800995 G T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.3384 p.A1128 0.591 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 - - 90 0 0.00 42 20 32.26 VAV1 0 genome.wustl.edu 37 19 6848009 6848009 + Nonsense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 6848009 6848009 G A SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known nonsense c.2013 p.W671* 1.000 pfam_SH2,superfamily_SH3_domain,smart_SH2,pfscan_SH2,prints_SH2 pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 39 0 0.00 19 2 9.52 VPS54 0 genome.wustl.edu 37 2 64141399 64141399 + Missense_Mutation SNP T T A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 64141399 64141399 T A SNP VPS54 ENST00000272322 human ensembl 74_37 -1 known missense c.2251 p.I751F 1.000 pfam_Vps54 pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 tier1 - - 94 0 0.00 18 34 65.38 WBP11P1 0 genome.wustl.edu 37 18 30091939 30091939 + RNA SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 18 30091939 30091939 G A SNP WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WBP11P1 HGNC ENSG00000260389 tier1 - - 111 0 0.00 26 13 33.33 WDR19 0 genome.wustl.edu 37 4 39276490 39276490 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 39276490 39276490 G A SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.3628 p.A1210T 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 tier1 - - 76 0 0.00 27 15 35.71 WDR60 0 genome.wustl.edu 37 7 158664026 158664026 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 158664026 158664026 G A SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known missense c.263 p.R88K 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 tier1 - - 114 0 0.00 30 20 40.00 WDR72 0 genome.wustl.edu 37 15 53908157 53908157 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 15 53908157 53908157 C G SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.2246 p.S749T 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 tier1 - - 68 0 0.00 15 20 57.14 WRAP73 0 genome.wustl.edu 37 1 3553584 3553584 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 3553584 3553584 A G SNP WRAP73 ENST00000270708 human ensembl 74_37 -1 known missense c.491 p.V164A 0.995 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WRAP73 HGNC ENSG00000116213 71 0 0.00 30 4 11.76 WRNIP1 0 genome.wustl.edu 37 6 2783659 2783659 + Silent SNP C C T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 6 2783659 2783659 C T SNP WRNIP1 ENST00000380773 human ensembl 74_37 +1 known silent c.1506 p.C502 0.997 NULL pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase - no_errors WRNIP1 HGNC ENSG00000124535 tier1 - - 57 0 0.00 53 4 7.02 XIRP1 0 genome.wustl.edu 37 3 39229916 39229916 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 39229916 39229916 C A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.1021 p.D341Y 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 tier1 - - 47 0 0.00 20 4 16.67 ZDHHC23 0 genome.wustl.edu 37 3 113673114 113673114 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 3 113673114 113673114 G T SNP ZDHHC23 ENST00000478793 human ensembl 74_37 +1 known missense c.729 p.K243N 0.160 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 29 0 0.00 28 3 9.68 ZFAT 0 genome.wustl.edu 37 8 135622881 135622881 + Missense_Mutation SNP C C G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 8 135622881 135622881 C G SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.466 p.E156Q 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 56 0 0.00 31 3 8.82 ZFYVE9 0 genome.wustl.edu 37 1 52798549 52798549 + Missense_Mutation SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 1 52798549 52798549 A G SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.3548 p.Y1183C 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 tier1 - - 62 0 0.00 10 22 68.75 ZMIZ2 0 genome.wustl.edu 37 7 44795881 44795881 + Silent SNP G G C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 7 44795881 44795881 G C SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known silent c.33 p.L11 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 49 0 0.00 40 4 8.89 ZNF142 0 genome.wustl.edu 37 2 219509410 219509410 + Missense_Mutation SNP G G A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 2 219509410 219509410 G A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.1829 p.A610V 0.787 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 tier1 - - 39 0 0.00 45 5 10.00 ZNF260 0 genome.wustl.edu 37 19 37005581 37005581 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 37005581 37005581 G T SNP ZNF260 ENST00000523638 human ensembl 74_37 -1 known missense c.560 p.T187N 0.997 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 tier1 - - 105 0 0.00 53 10 15.87 ZNF347 0 genome.wustl.edu 37 19 53652593 53652593 + Missense_Mutation SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 53652593 53652593 T C SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.43 p.I15V 0.774 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 tier1 - - 202 0 0.00 37 82 68.91 ZNF461 0 genome.wustl.edu 37 19 37130748 37130748 + Frame_Shift_Del DEL T T - TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 37130748 37130748 T - DEL ZNF461 ENST00000588268 human ensembl 74_37 -1 known frame_shift_del c.499 p.I167fs 0.002 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 ZNF461 HGNC ENSG00000197808 tier1 118 0 0.00 60 14 18.92 ZNF484 0 genome.wustl.edu 37 9 95610494 95610494 + Missense_Mutation SNP T T C TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 9 95610494 95610494 T C SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known missense c.581 p.Y194C 0.005 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 ZNF484 HGNC ENSG00000127081 tier1 - - 31 0 0.00 6 27 81.82 ZNF518A 0 genome.wustl.edu 37 10 97921704 97921704 + RNA SNP A A G TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 10 97921704 97921704 A G SNP ZNF518A ENST00000534948 human ensembl 74_37 +1 known rna NULL NULL 0.118 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 - - 67 0 0.00 29 15 34.09 ZNF578 0 genome.wustl.edu 37 19 52961273 52961273 + RNA SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 52961273 52961273 G T SNP ZNF578 ENST00000594118 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF578 HGNC ENSG00000258405 tier1 - - 76 0 0.00 41 5 10.87 ZNF667 0 genome.wustl.edu 37 19 56953299 56953299 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 56953299 56953299 C A SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1449 p.E483D 0.897 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 ZNF667 HGNC ENSG00000198046 56 0 0.00 33 2 5.71 ZNF71 0 genome.wustl.edu 37 19 57133981 57133981 + Missense_Mutation SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 57133981 57133981 G T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.1326 p.Q442H 0.958 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 tier1 - - 114 0 0.00 44 22 33.33 ZNF728 0 genome.wustl.edu 37 19 23159695 23159695 + Silent SNP G G T TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 19 23159695 23159695 G T SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel silent c.444 p.G148 0.004 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 ZNF728 HGNC ENSG00000269067 tier1 - - 109 0 0.00 46 6 11.54 ZNF732 0 genome.wustl.edu 37 4 265711 265711 + Missense_Mutation SNP C C A TCGA-XP-A8T8-01A-11D-A36J-09 TCGA-XP-A8T8-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0e7fe429-8748-4ae8-885c-ca9bf2a2fe79 d3072f13-42cf-4c39-a438-5191061ead95 4 265711 265711 C A SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known missense c.935 p.G312V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF732 HGNC ENSG00000186777 tier1 - - 56 0 0.00 25 16 38.10