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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val MUC4 0 genome.wustl.edu 37 3 195513295 195513295 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 195513295 195513295 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.5156 p.S1719F 1.000 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 - - 235 0 0.00 271 52 16.05 TNFRSF10D 0 genome.wustl.edu 37 8 23003268 23003268 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 23003268 23003268 C T SNP TNFRSF10D ENST00000312584 human ensembl 74_37 -1 known missense c.649 p.V217M 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10D HGNC ENSG00000173530 tier1 - - 69 0 0.00 40 31 43.66 GDF2 0 genome.wustl.edu 37 10 48416392 48416392 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 48416392 48416392 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.302 p.S101L 0.755 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 tier1 - - 66 0 0.00 58 15 20.55 CIDEC 0 genome.wustl.edu 37 3 9918765 9918765 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 9918765 9918765 C T SNP CIDEC ENST00000336832 human ensembl 74_37 -1 known silent c.192 p.E64 0.238 pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEC HGNC ENSG00000187288 tier1 - - 20 0 0.00 22 8 26.67 SLC8A1 0 genome.wustl.edu 37 2 40657360 40657360 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 40657360 40657360 C T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.61 p.V21I 0.001 prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 41 0 0.00 22 15 40.54 LRIG2 0 genome.wustl.edu 37 1 113637279 113637279 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 113637279 113637279 C T SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known silent c.705 p.F235 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 tier1 - - 119 0 0.00 89 19 17.59 FLNB 0 genome.wustl.edu 37 3 58149009 58149009 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 58149009 58149009 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.7150 p.P2384S 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 tier1 - - 80 0 0.00 90 15 14.29 RBFOX1 0 genome.wustl.edu 37 16 7568218 7568218 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 7568218 7568218 C T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.226 p.P76S 1.000 pirsf_R-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_R-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 tier1 - - 41 0 0.00 43 25 36.76 USP30 0 genome.wustl.edu 37 12 109522791 109522791 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 109522791 109522791 T A SNP USP30 ENST00000257548 human ensembl 74_37 +1 known missense c.1202 p.I401N 0.832 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP30 HGNC ENSG00000135093 tier1 - - 47 0 0.00 40 11 21.57 LHFPL5 0 genome.wustl.edu 37 6 35787302 35787302 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 35787302 35787302 C T SNP LHFPL5 ENST00000496656 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LHFPL5 HGNC ENSG00000197753 tier1 - - 32 0 0.00 42 8 16.00 TTC40 0 genome.wustl.edu 37 10 134623946 134623946 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 134623946 134623946 G A SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.2114 p.S705L 0.629 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 26 0 0.00 19 10 34.48 ASPA 0 genome.wustl.edu 37 17 3386821 3386821 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 3386821 3386821 T C SNP ASPA ENST00000263080 human ensembl 74_37 +1 known missense c.461 p.V154A 1.000 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ENSG00000108381 tier1 - - 49 0 0.00 35 29 45.31 MUC16 0 genome.wustl.edu 37 19 9070715 9070715 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 9070715 9070715 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.16731 p.Q5577 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 66 0 0.00 40 40 49.38 MUC5AC 0 genome.wustl.edu 37 11 1213550 1213550 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 1213550 1213550 C T SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MUC5AC HGNC ENSG00000215182 tier1 - - 64 0 0.00 68 14 17.07 DIO3OS 0 genome.wustl.edu 37 14 102024765 102024765 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 102024765 102024765 G A SNP DIO3OS ENST00000554735 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DIO3OS HGNC ENSG00000258498 tier1 - - 38 0 0.00 23 22 48.89 SKIV2L2 0 genome.wustl.edu 37 5 54654445 54654445 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 54654445 54654445 G A SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known silent c.1578 p.R526 0.977 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pirsf_R_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_R_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 tier1 - - 61 0 0.00 76 7 8.43 LMO7 0 genome.wustl.edu 37 13 76407265 76407265 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 76407265 76407265 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.3184 p.D1062N 0.898 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 - - 91 0 0.00 57 14 19.72 ZNRF4 0 genome.wustl.edu 37 19 5456454 5456454 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 5456454 5456454 G A SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.952 p.E318K 0.999 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 tier1 - - 23 0 0.00 12 16 57.14 ENSG00000229839 0 genome.wustl.edu 37 2 62373527 62373527 + R SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 62373527 62373527 G T SNP ENSG00000229839 ENST00000421323 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC018462.2 Clone_based_vega_gene ENSG00000229839 tier1 - - 36 0 0.00 30 14 31.82 TBC1D32 0 genome.wustl.edu 37 6 121452831 121452831 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 121452831 121452831 G A SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative silent c.2964 p.N988 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 69 0 0.00 49 16 24.62 MRPL9 0 genome.wustl.edu 37 1 151735297 151735297 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 151735297 151735297 G A SNP MRPL9 ENST00000462783 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MRPL9 HGNC ENSG00000143436 tier1 - - 40 0 0.00 38 22 36.67 TNXB 0 genome.wustl.edu 37 6 32017346 32017346 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 32017346 32017346 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.9452 p.P3151L 0.814 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 85 0 0.00 32 52 61.90 FSIP2 0 genome.wustl.edu 37 2 186669298 186669298 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 186669298 186669298 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.15532 p.D5178N 0.058 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 20 0 0.00 24 9 27.27 RYR2 0 genome.wustl.edu 37 1 237995922 237995922 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 237995922 237995922 A C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.14897 p.K4966T 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 96 0 0.00 125 24 16.11 MUC5B 0 genome.wustl.edu 37 11 1264737 1264737 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 1264737 1264737 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.6636 p.T2212 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 - - 68 0 0.00 67 23 25.56 ANK1 0 genome.wustl.edu 37 8 41530214 41530214 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 41530214 41530214 A T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.4754 p.L1585Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 17 0 0.00 22 6 21.43 CNP 0 genome.wustl.edu 37 17 40120360 40120360 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 40120360 40120360 G A SNP CNP ENST00000393892 human ensembl 74_37 +1 known missense c.278 p.R93Q 0.285 pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_R_ligase/cNuc_Pdiesterase,superfamily_P-loop_NTPase,pirsf_CNPase - no_errors CNP HGNC ENSG00000173786 tier1 - - 56 0 0.00 41 38 47.50 LRRC31 0 genome.wustl.edu 37 3 169571446 169571446 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 169571446 169571446 G A SNP LRRC31 ENST00000397805 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC31 HGNC ENSG00000114248 tier1 - - 62 0 0.00 55 27 32.93 ARHGAP21 0 genome.wustl.edu 37 10 24889637 24889637 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 24889637 24889637 C T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.3070 p.D1024N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 102 0 0.00 44 40 47.62 LOC101927209 0 genome.wustl.edu 37 1 142621282 142621282 + R SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 142621282 142621282 A T SNP LOC101927209 ENST00000412092 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors RP11-417J8.3 Clone_based_vega_gene ENSG00000230880 tier1 - - 83 0 0.00 79 8 9.20 KCNH8 0 genome.wustl.edu 37 3 19575314 19575314 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 19575314 19575314 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.3047 p.S1016L 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tR-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 35 0 0.00 33 9 21.43 TOR1A 0 genome.wustl.edu 37 9 132576163 132576163 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 132576163 132576163 G A SNP TOR1A ENST00000474192 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TOR1A HGNC ENSG00000136827 tier1 - - 30 0 0.00 23 16 41.03 UBIAD1 0 genome.wustl.edu 37 1 11345888 11345888 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 11345888 11345888 C T SNP UBIAD1 ENST00000376810 human ensembl 74_37 +1 known silent c.717 p.S239 0.013 pfam_UbiA_prenyltransferase pfam_UbiA_prenyltransferase - no_errors UBIAD1 HGNC ENSG00000120942 tier1 - - 27 0 0.00 39 19 32.76 MGAM 0 genome.wustl.edu 37 7 141758064 141758064 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 141758064 141758064 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.3755 p.G1252D 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 72 0 0.00 76 28 26.92 G0S2 0 genome.wustl.edu 37 1 209849252 209849252 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 209849252 209849252 C T SNP G0S2 ENST00000367029 human ensembl 74_37 +1 known missense c.223 p.L75F 0.000 NULL NULL - no_errors G0S2 HGNC ENSG00000123689 tier1 - - 42 0 0.00 46 32 41.03 CCT5 0 genome.wustl.edu 37 5 10262666 10262666 + Frame_Shift_Del DEL T T - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 10262666 10262666 T - DEL CCT5 ENST00000280326 human ensembl 74_37 +1 known frame_shift_del c.1253 p.V418fs 0.988 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 tier1 82 0 0.00 63 27 30.00 SLITRK6 0 genome.wustl.edu 37 13 86368336 86368336 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 86368336 86368336 C T SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.2308 p.G770R 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 tier1 - - 50 0 0.00 15 7 31.82 NIPSP3B 0 genome.wustl.edu 37 9 107526483 107526483 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 107526483 107526483 G A SNP NIPSP3B ENST00000461177 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NIPSP3B HGNC ENSG00000165028 tier1 - - 43 0 0.00 37 20 35.09 MDH1B 0 genome.wustl.edu 37 2 207621643 207621643 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 207621643 207621643 G A SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known missense c.392 p.P131L 0.976 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 tier1 - - 67 0 0.00 29 23 44.23 DNM1 0 genome.wustl.edu 37 9 131008733 131008733 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 131008733 131008733 G A SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known missense c.1732 p.G578S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 tier1 - - 49 0 0.00 41 15 26.79 CHD1L 0 genome.wustl.edu 37 1 146736135 146736135 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 146736135 146736135 C T SNP CHD1L ENST00000369258 human ensembl 74_37 +1 known nonsense c.631 p.Q211* 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 tier1 - - 58 0 0.00 44 28 38.36 STAB1 0 genome.wustl.edu 37 3 52538553 52538553 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52538553 52538553 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.1227 p.S409 0.196 superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 45 0 0.00 64 12 15.79 SLC8A3 0 genome.wustl.edu 37 14 70515509 70515509 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 70515509 70515509 G A SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known silent c.2382 p.F794 0.742 pfam_NaCa_Exmemb,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 tier1 - - 66 0 0.00 51 14 21.54 ILF3 0 genome.wustl.edu 37 19 10798043 10798043 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 10798043 10798043 G A SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.2093 p.G698E 1.000 NULL pfam_DZF,pfam_dsR-bd_dom,smart_DZF,smart_dsR-bd_dom,pfscan_dsR-bd_dom - no_errors ILF3 HGNC ENSG00000129351 tier1 - - 55 0 0.00 41 16 28.07 ARIH2 0 genome.wustl.edu 37 3 49005982 49005982 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49005982 49005982 C T SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.554 p.A185V 1.000 pfscan_Znf_RING pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 tier1 - - 43 0 0.00 47 30 38.96 TM4SF1 0 genome.wustl.edu 37 3 149089530 149089530 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 149089530 149089530 G A SNP TM4SF1 ENST00000305366 human ensembl 74_37 -1 known nonsense c.538 p.Q180* 1.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF1 HGNC ENSG00000169908 tier1 - - 65 0 0.00 55 21 27.63 L3MBTL3 0 genome.wustl.edu 37 6 130413988 130413988 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 130413988 130413988 C T SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known silent c.1617 p.P539 0.978 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 tier1 - - 92 0 0.00 88 34 27.87 SMG6 0 genome.wustl.edu 37 17 2075957 2075957 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 2075957 2075957 C A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.3352 p.D1118Y 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 - - 94 0 0.00 55 88 61.54 PCSK2 0 genome.wustl.edu 37 20 17462554 17462554 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 17462554 17462554 G A SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known missense c.1756 p.E586K 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 tier1 - - 37 0 0.00 46 16 25.81 KIF1A 0 genome.wustl.edu 37 2 241696866 241696866 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 241696866 241696866 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.2728 p.E910K 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 32 0 0.00 25 6 19.35 ENSG00000231437 0 genome.wustl.edu 37 1 112533638 112533638 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 112533638 112533638 G A SNP ENSG00000231437 ENST00000428461 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-88H9.2 Clone_based_vega_gene ENSG00000231437 tier1 - - 22 0 0.00 30 18 37.50 XKR5 0 genome.wustl.edu 37 8 6669733 6669733 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 6669733 6669733 C T SNP XKR5 ENST00000405979 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XKR5 HGNC ENSG00000186530 tier1 - - 79 0 0.00 47 16 25.00 NRG3 0 genome.wustl.edu 37 10 83635333 83635333 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 83635333 83635333 G A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known silent c.237 p.L79 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 tier1 - - 8 0 0.00 4 4 50.00 DCST2 0 genome.wustl.edu 37 1 155002676 155002676 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 155002676 155002676 T C SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known missense c.1061 p.Y354C 0.000 pfam_DC_STAMP-like pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 tier1 - - 91 0 0.00 92 47 33.81 SEMA4B 0 genome.wustl.edu 37 15 90767145 90767145 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 90767145 90767145 C T SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known silent c.1119 p.L373 0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 tier1 - - 74 0 0.00 29 41 58.57 CAMKK1 0 genome.wustl.edu 37 17 3785649 3785649 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 3785649 3785649 G A SNP CAMKK1 ENST00000381771 human ensembl 74_37 -1 known missense c.701 p.A234V 0.000 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 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 CAMKK1 HGNC ENSG00000004660 tier1 - - 53 0 0.00 63 10 13.70 GPR125 0 genome.wustl.edu 37 4 22394264 22394264 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 22394264 22394264 C T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.2531 p.G844E 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 tier1 - - 81 0 0.00 89 26 22.61 C1orf106 0 genome.wustl.edu 37 1 200880854 200880854 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 200880854 200880854 C T SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known silent c.1488 p.V496 0.077 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 tier1 - - 43 0 0.00 31 27 46.55 EFCAB4B 0 genome.wustl.edu 37 12 3806137 3806137 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 3806137 3806137 G A SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known missense c.29 p.S10F 0.006 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 tier1 - - 42 0 0.00 32 5 13.51 SLC38A5 0 genome.wustl.edu 37 X 48318260 48318260 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 48318260 48318260 G A SNP SLC38A5 ENST00000317669 human ensembl 74_37 -1 known silent c.1071 p.I357 0.985 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 tier1 - - 21 0 0.00 8 26 76.47 TEAD4 0 genome.wustl.edu 37 12 3147171 3147171 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 3147171 3147171 C T SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known missense c.935 p.S312F 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 tier1 - - 42 0 0.00 31 23 42.59 HEATR4 0 genome.wustl.edu 37 14 73978825 73978825 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 73978825 73978825 C T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known silent c.1443 p.E481 0.858 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 tier1 - - 64 0 0.00 27 39 59.09 ADAD1 0 genome.wustl.edu 37 4 123302156 123302156 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 123302156 123302156 C T SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.182 p.P61L 1.000 NULL pfam_A_deamin,pfam_dsR-bd_dom,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 tier1 - - 69 0 0.00 79 47 37.30 LHFPL5 0 genome.wustl.edu 37 6 35773750 35773750 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 35773750 35773750 G A SNP LHFPL5 ENST00000360215 human ensembl 74_37 +1 known silent c.303 p.V101 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 tier1 - - 26 0 0.00 19 14 42.42 SENP3-EIF4A1 0 genome.wustl.edu 37 17 7482018 7482018 + R SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 7482018 7482018 C A SNP SENP3-EIF4A1 ENST00000579777 human ensembl 74_37 +1 known rna NULL NULL 0.076 - - - no_errors SENP3-EIF4A1 HGNC ENSG00000265500 tier1 - - 69 0 0.00 84 8 8.70 C4orf40 0 genome.wustl.edu 37 4 71020143 71020143 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 71020143 71020143 G A SNP C4orf40 ENST00000344526 human ensembl 74_37 +1 known silent c.51 p.K17 0.042 NULL NULL - no_errors C4orf40 HGNC ENSG00000187533 tier1 - - 108 0 0.00 84 19 18.45 PTPRQ 0 genome.wustl.edu 37 12 80935406 80935406 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 80935406 80935406 C T SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.3215 p.P1072L 0.995 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 - - 69 0 0.00 74 17 18.68 GPR128 0 genome.wustl.edu 37 3 100373989 100373989 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 100373989 100373989 C T SNP GPR128 ENST00000273352 human ensembl 74_37 +1 known missense c.1690 p.R564W 0.045 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 tier1 - - 30 0 0.00 16 12 42.86 PLA2G4A 0 genome.wustl.edu 37 1 186862187 186862187 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 186862187 186862187 C T SNP PLA2G4A ENST00000367466 human ensembl 74_37 +1 known missense c.160 p.P54S 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 tier1 - - 95 0 0.00 91 19 17.27 C12orf55 0 genome.wustl.edu 37 12 97222840 97222840 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 97222840 97222840 G A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.9145 p.D3049N 0.005 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 31 0 0.00 42 9 17.65 CNKSR2 0 genome.wustl.edu 37 X 21549994 21549994 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 21549994 21549994 C T SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.1112 p.P371L 1.000 pfam_CNKSR2 pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 tier1 - - 61 0 0.00 35 26 42.62 CLCA1 0 genome.wustl.edu 37 1 86952285 86952285 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 86952285 86952285 T C SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known missense c.1031 p.V344A 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 tier1 - - 40 0 0.00 48 25 34.25 MDGA2 0 genome.wustl.edu 37 14 47324287 47324287 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 47324287 47324287 C T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known silent c.2823 p.G941 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 93 0 0.00 25 31 55.36 DUSP7 0 genome.wustl.edu 37 3 52088018 52088018 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52088018 52088018 G A SNP DUSP7 ENST00000296483 human ensembl 74_37 -1 known missense c.737 p.P246L 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP7 HGNC ENSG00000164086 tier1 - - 47 0 0.00 61 14 18.67 ADCY3 0 genome.wustl.edu 37 2 25095477 25095477 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 25095477 25095477 C T SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.787 p.E263K 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 tier1 - - 48 0 0.00 69 28 28.87 COL9A1 0 genome.wustl.edu 37 6 70935701 70935701 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 70935701 70935701 C T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.2515 p.E839K 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 tier1 - - 67 0 0.00 46 15 24.19 BRAF 0 genome.wustl.edu 37 7 140494226 140494226 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 140494226 140494226 G A SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.1022 p.P341L 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 tier1 - - 114 0 0.00 145 23 13.69 WDR49 0 genome.wustl.edu 37 3 167277889 167277889 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 167277889 167277889 G A SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.614 p.T205I 0.717 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,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 tier1 - - 75 0 0.00 67 34 33.66 ABCC4 0 genome.wustl.edu 37 13 95727862 95727862 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 95727862 95727862 G A SNP ABCC4 ENST00000467685 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ABCC4 HGNC ENSG00000125257 tier1 - - 29 0 0.00 24 7 22.58 OBSCN 0 genome.wustl.edu 37 1 228404937 228404937 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 228404937 228404937 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.2601 p.T867 0.906 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 41 0 0.00 42 30 41.67 OR10J3 0 genome.wustl.edu 37 1 159284008 159284008 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 159284008 159284008 C T SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.442 p.G148R 0.123 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 tier1 - - 32 0 0.00 34 13 27.66 ABHD17A 0 genome.wustl.edu 37 19 1881390 1881390 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1881390 1881390 G T SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known missense c.176 p.S59Y 0.817 NULL pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 tier1 - - 30 0 0.00 28 32 53.33 TRA2A 0 genome.wustl.edu 37 7 23556110 23556110 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 23556110 23556110 G A SNP TRA2A ENST00000297071 human ensembl 74_37 -1 known nonsense c.208 p.R70* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC ENSG00000164548 tier1 - - 84 0 0.00 63 41 39.42 KCND2 0 genome.wustl.edu 37 7 119915568 119915568 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 119915568 119915568 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known silent c.882 p.V294 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 tier1 - - 37 0 0.00 23 19 45.24 CHD6 0 genome.wustl.edu 37 20 40050119 40050119 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 40050119 40050119 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.5156 p.S1719F 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_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 CHD6 HGNC ENSG00000124177 tier1 - - 43 0 0.00 43 32 42.11 RORC 0 genome.wustl.edu 37 1 151779524 151779524 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 151779524 151779524 G A SNP RORC ENST00000480719 human ensembl 74_37 -1 known rna NULL NULL 0.794 - - - no_errors RORC HGNC ENSG00000143365 tier1 - - 36 0 0.00 41 5 10.87 ZNF529 0 genome.wustl.edu 37 19 37039185 37039185 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 37039185 37039185 C T SNP ZNF529 ENST00000591340 human ensembl 74_37 -1 known missense c.275 p.G92E 0.000 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 ZNF529 HGNC ENSG00000186020 tier1 - - 55 0 0.00 25 20 43.48 CTNS 0 genome.wustl.edu 37 17 3552211 3552211 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 3552211 3552211 G A SNP CTNS ENST00000381870 human ensembl 74_37 +1 known missense c.211 p.E71K 0.997 NULL smart_CTNS,tigrfam_LC_transporter - no_errors CTNS HGNC ENSG00000040531 tier1 - - 45 0 0.00 40 22 35.48 BCS1L 0 genome.wustl.edu 37 2 219526216 219526216 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 219526216 219526216 C T SNP BCS1L ENST00000359273 human ensembl 74_37 +1 known silent c.408 p.T136 1.000 pfam_BCS1_N pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 tier1 - - 41 0 0.00 54 20 27.03 FAM73A 0 genome.wustl.edu 37 1 78338777 78338777 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 78338777 78338777 C T SNP FAM73A ENST00000370791 human ensembl 74_37 +1 known missense c.1652 p.S551F 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 tier1 - - 86 0 0.00 86 12 12.24 RFPL3 0 genome.wustl.edu 37 22 32756661 32756661 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 32756661 32756661 C T SNP RFPL3 ENST00000249007 human ensembl 74_37 +1 known missense c.796 p.H266Y 0.964 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 tier1 - - 113 0 0.00 143 17 10.62 ENSG00000230615 0 genome.wustl.edu 37 1 44569683 44569683 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 44569683 44569683 C T SNP ENSG00000230615 ENST00000434244 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 tier1 - - 42 0 0.00 41 5 10.87 SPINK7 0 genome.wustl.edu 37 5 147692067 147692067 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 147692067 147692067 C T SNP SPINK7 ENST00000274565 human ensembl 74_37 +1 known silent c.21 p.L7 0.995 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK7 HGNC ENSG00000145879 tier1 - - 104 0 0.00 59 39 39.80 GPR139 0 genome.wustl.edu 37 16 20043818 20043818 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 20043818 20043818 C T SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known missense c.301 p.D101N 0.340 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 tier1 - - 38 0 0.00 50 23 31.08 FBXO46 0 genome.wustl.edu 37 19 46216306 46216306 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 46216306 46216306 G A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.448 p.R150W 0.093 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 tier1 - - 54 0 0.00 83 23 21.70 PPP5C 0 genome.wustl.edu 37 19 46879824 46879824 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 46879824 46879824 C T SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known missense c.626 p.A209V 1.000 pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5 pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 tier1 rs199770924 GMAF=0 55 0 0.00 49 18 26.87 ADIPOR1 0 genome.wustl.edu 37 1 202914123 202914123 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 202914123 202914123 C T SNP ADIPOR1 ENST00000340990 human ensembl 74_37 -1 known missense c.605 p.R202Q 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors ADIPOR1 HGNC ENSG00000159346 tier1 - - 49 0 0.00 37 33 47.14 CYP4F12 0 genome.wustl.edu 37 19 15791085 15791085 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 15791085 15791085 C T SNP CYP4F12 ENST00000517734 human ensembl 74_37 +1 known missense c.299 p.S100L 0.002 NULL NULL - no_errors CYP4F12 HGNC ENSG00000186204 tier1 - - 63 0 0.00 59 22 26.83 ZDHHC3 0 genome.wustl.edu 37 3 44974451 44974451 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 44974451 44974451 C T SNP ZDHHC3 ENST00000296127 human ensembl 74_37 -1 known silent c.642 p.E214 0.043 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC3 HGNC ENSG00000163812 tier1 - - 36 0 0.00 43 23 34.33 CUBN 0 genome.wustl.edu 37 10 16955938 16955938 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 16955938 16955938 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.7405 p.P2469S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 131 0 0.00 116 67 36.22 SPOCD1 0 genome.wustl.edu 37 1 32280233 32280233 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 32280233 32280233 C T SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known silent c.702 p.G234 0.770 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 tier1 - - 51 0 0.00 80 18 18.37 FOXRED2 0 genome.wustl.edu 37 22 36900239 36900239 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 36900239 36900239 G A SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known missense c.955 p.P319S 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/D - no_errors FOXRED2 HGNC ENSG00000100350 tier1 - - 61 0 0.00 43 29 40.28 SET 0 genome.wustl.edu 37 9 131454159 131454159 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 131454159 131454159 G A SNP SET ENST00000372692 human ensembl 74_37 +1 known missense c.193 p.E65K 1.000 pfam_P_family pfam_P_family - no_errors SET HGNC ENSG00000119335 tier1 - - 45 0 0.00 22 20 47.62 SCD5 0 genome.wustl.edu 37 4 83601976 83601976 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 83601976 83601976 G A SNP SCD5 ENST00000319540 human ensembl 74_37 -1 known silent c.453 p.F151 1.000 pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 tier1 - - 34 0 0.00 54 20 27.03 FNDC7 0 genome.wustl.edu 37 1 109261501 109261501 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 109261501 109261501 C T SNP FNDC7 ENST00000271311 human ensembl 74_37 +1 known missense c.431 p.S144F 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 tier1 - - 34 0 0.00 40 6 13.04 POLQ 0 genome.wustl.edu 37 3 121207015 121207015 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 121207015 121207015 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.4763 p.P1588L 0.001 NULL pfam_D-dir_D_pol_A_palm_dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_D-dir_D_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_D_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 31 0 0.00 21 5 19.23 LOC441666 0 genome.wustl.edu 37 10 42831524 42831524 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 42831524 42831524 C T SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 - - 148 0 0.00 86 63 42.28 DGKB 0 genome.wustl.edu 37 7 14217733 14217733 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 14217733 14217733 G A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known silent c.2169 p.A723 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 tier1 - - 39 0 0.00 67 6 8.22 QARS 0 genome.wustl.edu 37 3 49133432 49133432 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49133432 49133432 G A SNP QARS ENST00000466179 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors QARS HGNC ENSG00000172053 tier1 - - 38 0 0.00 40 24 37.50 OR13C3 0 genome.wustl.edu 37 9 107299036 107299036 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 107299036 107299036 C T SNP OR13C3 ENST00000374781 human ensembl 74_37 -1 known missense c.59 p.R20K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C3 HGNC ENSG00000204246 tier1 - - 30 0 0.00 21 15 41.67 MYOCD 0 genome.wustl.edu 37 17 12626276 12626276 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 12626276 12626276 G A SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.366 p.V122 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 56 0 0.00 58 28 32.56 SLX4 0 genome.wustl.edu 37 16 3641302 3641302 + Silent SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 3641302 3641302 C A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known silent c.2337 p.V779 0.161 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 tier1 - - 25 0 0.00 12 16 57.14 ARHGAP31 0 genome.wustl.edu 37 3 119133768 119133768 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 119133768 119133768 G A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.2992 p.G998R 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 - - 39 0 0.00 26 17 39.53 CHTOP 0 genome.wustl.edu 37 1 153614779 153614779 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 153614779 153614779 G A SNP CHTOP ENST00000368694 human ensembl 74_37 +1 known missense c.277 p.G93R 1.000 NULL NULL - no_errors CHTOP HGNC ENSG00000160679 tier1 - - 62 0 0.00 80 41 33.61 APLNR 0 genome.wustl.edu 37 11 57004039 57004039 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 57004039 57004039 G A SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.440 p.A147V 0.062 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 tier1 - - 23 0 0.00 17 11 39.29 KCNJ5 0 genome.wustl.edu 37 11 128786615 128786615 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 128786615 128786615 G A SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known missense c.1249 p.G417S 0.004 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 tier1 - - 51 0 0.00 62 25 28.74 SHOC2 0 genome.wustl.edu 37 10 112769129 112769129 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 112769129 112769129 C T SNP SHOC2 ENST00000369452 human ensembl 74_37 +1 known missense c.1408 p.L470F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 tier1 - - 51 0 0.00 32 12 27.27 FAM19A2 0 genome.wustl.edu 37 12 62148676 62148676 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 62148676 62148676 C T SNP FAM19A2 ENST00000416284 human ensembl 74_37 -1 known missense c.236 p.R79Q 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A2 HGNC ENSG00000198673 tier1 - - 48 0 0.00 43 7 13.73 TET1 0 genome.wustl.edu 37 10 70450581 70450581 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 70450581 70450581 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.5421 p.T1807 0.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 rs201000084 GMAF=0.0005 78 0 0.00 54 36 40.00 FSIP2 0 genome.wustl.edu 37 2 186672991 186672991 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 186672991 186672991 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.19225 p.E6409K 1.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 57 0 0.00 59 16 21.33 SLC1A1 0 genome.wustl.edu 37 9 4572361 4572361 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 4572361 4572361 C T SNP SLC1A1 ENST00000262352 human ensembl 74_37 +1 known missense c.740 p.T247I 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A1 HGNC ENSG00000106688 tier1 - - 53 0 0.00 44 20 31.25 MYOCD 0 genome.wustl.edu 37 17 12639486 12639486 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 12639486 12639486 G T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.424 p.V142L 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 112 0 0.00 106 24 18.32 NKAIN2 0 genome.wustl.edu 37 6 124979363 124979363 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 124979363 124979363 C T SNP NKAIN2 ENST00000368417 human ensembl 74_37 +1 known missense c.305 p.S102L 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 tier1 - - 63 0 0.00 64 18 21.95 TFAP2B 0 genome.wustl.edu 37 6 50810895 50810895 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 50810895 50810895 C T SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known silent c.1200 p.I400 0.999 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 tier1 - - 47 0 0.00 44 16 26.67 ERG 0 genome.wustl.edu 37 21 39817383 39817383 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 39817383 39817383 G A SNP ERG ENST00000398919 human ensembl 74_37 -1 known silent c.201 p.P67 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 tier1 - - 68 0 0.00 67 25 26.88 CLEC4C 0 genome.wustl.edu 37 12 7894031 7894031 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 7894031 7894031 C T SNP CLEC4C ENST00000360345 human ensembl 74_37 -1 known missense c.221 p.G74E 0.060 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4C HGNC ENSG00000198178 tier1 - - 51 0 0.00 45 7 13.21 SI 0 genome.wustl.edu 37 3 164760860 164760860 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 164760860 164760860 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.1991 p.S664F 0.839 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 99 0 0.00 127 17 11.81 ILVBL 0 genome.wustl.edu 37 19 15233758 15233758 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 15233758 15233758 C T SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known silent c.549 p.R183 0.998 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 tier1 - - 25 0 0.00 22 20 47.62 BCS1L 0 genome.wustl.edu 37 2 219526215 219526215 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 219526215 219526215 C T SNP BCS1L ENST00000359273 human ensembl 74_37 +1 known missense c.407 p.T136I 1.000 pfam_BCS1_N pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors BCS1L HGNC ENSG00000074582 tier1 - - 40 0 0.00 54 20 27.03 C3orf30 0 genome.wustl.edu 37 3 118866202 118866202 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 118866202 118866202 G A SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known missense c.1166 p.R389K 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 tier1 - - 60 0 0.00 36 41 53.25 CDK12 0 genome.wustl.edu 37 17 37627629 37627629 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 37627629 37627629 C T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.1544 p.P515L 1.000 NULL 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 CDK12 HGNC ENSG00000167258 tier1 - - 68 0 0.00 52 31 37.35 KIAA1217 0 genome.wustl.edu 37 10 24833274 24833274 + Nonsense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 24833274 24833274 C A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known nonsense c.5075 p.S1692* 0.011 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 - - 45 0 0.00 35 4 10.26 PRB4 0 genome.wustl.edu 37 12 11461601 11461601 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 11461601 11461601 C G SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known missense c.316 p.G106R 0.000 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 tier1 - - 98 0 0.00 59 31 34.44 SIGLEC7 0 genome.wustl.edu 37 19 51647686 51647686 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 51647686 51647686 C T SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known missense c.457 p.L153F 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 tier1 - - 60 0 0.00 57 12 17.39 MUC16 0 genome.wustl.edu 37 19 9063581 9063581 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 9063581 9063581 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.23865 p.E7955D 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 55 0 0.00 43 24 35.82 TRIM42 0 genome.wustl.edu 37 3 140401663 140401663 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 140401663 140401663 G A SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.701 p.G234E 0.623 smart_Znf_B-box pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 67 0 0.00 87 35 28.69 DGCR8 0 genome.wustl.edu 37 22 20077694 20077694 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 20077694 20077694 G A SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.1219 p.E407K 1.000 NULL pfam_dsR-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsR-bd_dom,pfscan_WW_dom,pfscan_dsR-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 tier1 rs200010909 GMAF=0.0005 56 0 0.00 48 18 27.27 EPG5 0 genome.wustl.edu 37 18 43497657 43497657 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 43497657 43497657 G A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known silent c.3226 p.L1076 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 - - 55 0 0.00 29 20 40.00 ZNF90 0 genome.wustl.edu 37 19 20236176 20236176 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 20236176 20236176 C T SNP ZNF90 ENST00000474284 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 - - 49 0 0.00 39 9 18.75 MAB21L1 0 genome.wustl.edu 37 13 36049199 36049199 + Silent SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 36049199 36049199 A T SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known silent c.1077 p.L359 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 tier1 - - 54 0 0.00 35 11 23.91 PTBP2 0 genome.wustl.edu 37 1 97187323 97187323 + R SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 97187323 97187323 A C SNP PTBP2 ENST00000482253 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTBP2 HGNC ENSG00000117569 tier1 - - 44 0 0.00 59 23 28.05 FAM230C 0 genome.wustl.edu 37 22 21663623 21663623 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 21663623 21663623 G A SNP FAM230C ENST00000436681 human ensembl 74_37 -1 known rna NULL NULL 0.694 - - - no_errors KB-1183D5.13 Clone_based_vega_gene ENSG00000206142 tier1 - - 66 0 0.00 89 15 14.42 PPP4R1L 0 genome.wustl.edu 37 20 56821143 56821143 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 56821143 56821143 G A SNP PPP4R1L ENST00000334187 human ensembl 74_37 -1 known silent c.1119 p.S373 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1L HGNC ENSG00000124224 tier1 - - 44 0 0.00 68 9 11.69 GCNT3 0 genome.wustl.edu 37 15 59911478 59911478 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 59911478 59911478 C T SNP GCNT3 ENST00000396065 human ensembl 74_37 +1 known silent c.1041 p.P347 0.012 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT3 HGNC ENSG00000140297 tier1 - - 39 0 0.00 22 20 47.62 SLC9B1 0 genome.wustl.edu 37 4 103822399 103822399 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 103822399 103822399 A T SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known missense c.1423 p.L475I 0.460 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 tier1 - - 514 1 0.19 693 69 9.04 MAN1A1 0 genome.wustl.edu 37 6 119522419 119522419 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 119522419 119522419 G C SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known missense c.1210 p.H404D 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 tier1 - - 71 0 0.00 37 32 46.38 ZNF541 0 genome.wustl.edu 37 19 48048924 48048924 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 48048924 48048924 G A SNP ZNF541 ENST00000314121 human ensembl 74_37 -1 known missense c.862 p.P288S 0.228 NULL pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 tier1 - - 29 0 0.00 27 9 25.00 SPTBN1 0 genome.wustl.edu 37 2 54856752 54856752 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 54856752 54856752 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.2481 p.I827 0.681 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 tier1 - - 20 0 0.00 24 16 39.02 PACSIN1 0 genome.wustl.edu 37 6 34496562 34496562 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 34496562 34496562 C T SNP PACSIN1 ENST00000244458 human ensembl 74_37 +1 known missense c.364 p.H122Y 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN1 HGNC ENSG00000124507 tier1 - - 46 0 0.00 58 9 13.43 TXNRD2 0 genome.wustl.edu 37 22 19907071 19907071 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 19907071 19907071 G A SNP TXNRD2 ENST00000535882 human ensembl 74_37 -1 known missense c.221 p.P74L 0.997 pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_FAD_bind_dom,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/D-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 tier1 - - 81 0 0.00 82 41 33.33 ITIH5 0 genome.wustl.edu 37 10 7684050 7684050 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 7684050 7684050 T C SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.139 p.T47A 1.000 smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 115 0 0.00 96 54 35.76 OR6C68 0 genome.wustl.edu 37 12 55886840 55886840 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 55886840 55886840 C T SNP OR6C68 ENST00000379662 human ensembl 74_37 +1 known missense c.694 p.P232S 0.051 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR6C68 HGNC ENSG00000205327 tier1 - - 41 0 0.00 26 7 21.21 THSD7A 0 genome.wustl.edu 37 7 11676079 11676079 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 11676079 11676079 T C SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.700 p.N234D 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 tier1 - - 25 0 0.00 27 10 27.03 OR52B6 0 genome.wustl.edu 37 11 5603071 5603071 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5603071 5603071 G T SNP OR52B6 ENST00000345043 human ensembl 74_37 +1 known missense c.965 p.G322V 0.818 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B6 HGNC ENSG00000187747 tier1 - - 96 0 0.00 45 27 36.99 CDH17 0 genome.wustl.edu 37 8 95164118 95164118 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 95164118 95164118 C T SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known missense c.1774 p.D592N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 tier1 - - 51 0 0.00 44 17 27.87 XKRX 0 genome.wustl.edu 37 X 100177793 100177793 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 100177793 100177793 G A SNP XKRX ENST00000328526 human ensembl 74_37 -1 known missense c.632 p.P211L 0.633 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 tier1 - - 32 0 0.00 16 35 68.63 PLA2R1 0 genome.wustl.edu 37 2 160811815 160811815 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 160811815 160811815 G A SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known missense c.3196 p.L1066F 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 tier1 - - 116 0 0.00 79 15 15.79 TRAF1 0 genome.wustl.edu 37 9 123667463 123667463 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 123667463 123667463 G A SNP TRAF1 ENST00000373887 human ensembl 74_37 -1 known silent c.1086 p.F362 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC ENSG00000056558 tier1 - - 29 0 0.00 42 18 30.00 FAM83G 0 genome.wustl.edu 37 17 18874838 18874838 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 18874838 18874838 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.2306 p.P769L 0.001 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 72 0 0.00 111 59 34.71 SIGLEC7 0 genome.wustl.edu 37 19 51647685 51647685 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 51647685 51647685 C T SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known silent c.456 p.I152 0.004 pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 tier1 - - 60 0 0.00 57 12 17.39 LAMC3 0 genome.wustl.edu 37 9 133927960 133927960 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 133927960 133927960 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.1713 p.L571 0.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 - - 71 0 0.00 59 27 31.40 CHRNG 0 genome.wustl.edu 37 2 233410307 233410307 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 233410307 233410307 G A SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known missense c.1435 p.A479T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 tier1 - - 31 0 0.00 41 7 14.29 PCDHGB3 0 genome.wustl.edu 37 5 140750451 140750451 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140750451 140750451 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.490 p.V164I 0.000 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 PCDHGB3 HGNC ENSG00000262209 tier1 - - 50 0 0.00 52 26 33.33 PTPRC 0 genome.wustl.edu 37 1 198685878 198685878 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 198685878 198685878 G A SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.1359 p.T453 0.001 pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 53 0 0.00 41 5 10.87 PHF13 0 genome.wustl.edu 37 1 6680241 6680241 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 6680241 6680241 G A SNP PHF13 ENST00000377648 human ensembl 74_37 +1 known missense c.520 p.D174N 0.998 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 tier1 rs149667501 - 59 0 0.00 43 32 42.67 ADAMTS20 0 genome.wustl.edu 37 12 43862452 43862452 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 43862452 43862452 C T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.1174 p.E392K 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 76 0 0.00 61 9 12.86 OLFM3 0 genome.wustl.edu 37 1 102269548 102269549 + R INS - - TT TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 102269548 102269549 - TT INS OLFM3 ENST00000462354 human ensembl 74_37 -1 known rna NULL NULL 0.515:0.475 - - - no_errors OLFM3 HGNC ENSG00000118733 tier1 19 0 0.00 33 3 8.33 CD1A 0 genome.wustl.edu 37 1 158226673 158226673 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 158226673 158226673 G A SNP CD1A ENST00000289429 human ensembl 74_37 +1 known nonsense c.702 p.W234* 0.997 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 tier1 - - 71 0 0.00 117 25 17.61 LOC388813 0 genome.wustl.edu 37 21 15988332 15988332 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 15988332 15988332 A G SNP LOC388813 ENST00000400562 human ensembl 74_37 -1 putative silent c.162 p.V54 1.000 NULL NULL - no_errors AF165138.7 Clone_based_vega_gene ENSG00000243440 tier1 - - 125 0 0.00 140 24 14.63 CYB5RL 0 genome.wustl.edu 37 1 54644984 54644984 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 54644984 54644984 G A SNP CYB5RL ENST00000419823 human ensembl 74_37 -1 known silent c.582 p.A194 0.993 pfam_OxRdtase_FAD/D-bd,prints_DH-Cyt_B5_reductase,prints_Phe_hydroxylase pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/D-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_DH-Cyt_B5_reductase,prints_Phe_hydroxylase - no_errors CYB5RL HGNC ENSG00000215883 tier1 - - 65 0 0.00 67 14 17.07 KC4 0 genome.wustl.edu 37 11 30034739 30034739 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 30034739 30034739 G A SNP KC4 ENST00000526518 human ensembl 74_37 -1 putative rna NULL NULL 0.690 - - - no_errors KC4 HGNC ENSG00000182255 tier1 - - 77 0 0.00 79 15 15.96 TENM2 0 genome.wustl.edu 37 5 166711897 166711897 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 166711897 166711897 G A SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.55 p.E19K 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 29 0 0.00 33 7 17.50 ASB13 0 genome.wustl.edu 37 10 5683863 5683863 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 5683863 5683863 C T SNP ASB13 ENST00000357700 human ensembl 74_37 -1 known silent c.579 p.K193 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB13 HGNC ENSG00000196372 tier1 - - 43 0 0.00 45 16 26.23 F5 0 genome.wustl.edu 37 1 169510971 169510971 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 169510971 169510971 C T SNP F5 ENST00000367797 human ensembl 74_37 -1 known silent c.3357 p.Q1119 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 tier1 - - 46 0 0.00 39 39 50.00 LINC00943 0 genome.wustl.edu 37 12 127229425 127229425 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 127229425 127229425 G A SNP LINC00943 ENST00000345111 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors LINC00943 HGNC ENSG00000189238 tier1 - - 110 0 0.00 71 25 26.04 NMI 0 genome.wustl.edu 37 2 152135416 152135420 + Frame_Shift_Del DEL GAACA GAACA - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 GAACA GAACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 152135416 152135420 GAACA - DEL NMI ENST00000243346 human ensembl 74_37 -1 known frame_shift_del c.266_262 p.C88fs 0.980:0.986:0.990:0.991:0.999 pfam_Nmi/IFP35_N pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N - no_errors NMI HGNC ENSG00000123609 tier1 RYR1 0 genome.wustl.edu 37 19 38937391 38937391 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38937391 38937391 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.783 p.L261 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 47 0 0.00 35 5 12.50 PTPRN 0 genome.wustl.edu 37 2 220164892 220164892 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 220164892 220164892 G A SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known silent c.1251 p.T417 0.959 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 tier1 - - 34 0 0.00 26 5 16.13 RPL27A 0 genome.wustl.edu 37 11 8706304 8706304 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 8706304 8706304 C T SNP RPL27A ENST00000314138 human ensembl 74_37 +1 known silent c.183 p.Y61 1.000 pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors RPL27A HGNC ENSG00000166441 tier1 - - 100 0 0.00 88 56 38.62 ZNRF2P2 0 genome.wustl.edu 37 7 29690808 29690808 + R SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 29690808 29690808 T A SNP ZNRF2P2 ENST00000426767 human ensembl 74_37 -1 known rna NULL NULL 0.191 - - - no_errors ZNRF2P2 HGNC ENSG00000225264 tier1 - - 9 0 0.00 6 5 45.45 RHBDF2 0 genome.wustl.edu 37 17 74474927 74474927 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 74474927 74474927 C T SNP RHBDF2 ENST00000313080 human ensembl 74_37 -1 known silent c.720 p.V240 1.000 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 tier1 - - 27 0 0.00 17 12 41.38 APBA2 0 genome.wustl.edu 37 15 29397681 29397681 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 29397681 29397681 G A SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.1624 p.E542K 1.000 superfamily_PDZ,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 67 0 0.00 20 21 51.22 LDB3 0 genome.wustl.edu 37 10 88476375 88476375 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 88476375 88476375 C T SNP LDB3 ENST00000429277 human ensembl 74_37 +1 known missense c.1538 p.S513F 0.967 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 tier1 - - 46 0 0.00 25 21 45.65 GULP1 0 genome.wustl.edu 37 2 189342386 189342386 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 189342386 189342386 G A SNP GULP1 ENST00000479019 human ensembl 74_37 +1 known rna NULL NULL 0.384 - - - no_errors GULP1 HGNC ENSG00000144366 tier1 - - 51 0 0.00 42 20 32.26 MYBPC2 0 genome.wustl.edu 37 19 50947029 50947029 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 50947029 50947029 G A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known silent c.1089 p.V363 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 tier1 - - 68 0 0.00 62 14 18.42 HEATR1 0 genome.wustl.edu 37 1 236719488 236719488 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 236719488 236719488 A T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.5426 p.L1809H 0.923 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 tier1 - - 53 0 0.00 44 24 35.29 BAI3 0 genome.wustl.edu 37 6 69684677 69684677 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 69684677 69684677 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.1548 p.E516 1.000 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 57 0 0.00 59 7 10.61 DYNC2H1 0 genome.wustl.edu 37 11 103158310 103158310 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 103158310 103158310 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.11092 p.A3698T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 86 0 0.00 56 31 35.63 KCNH5 0 genome.wustl.edu 37 14 63174717 63174717 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 63174717 63174717 C T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.2476 p.E826K 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 tier1 - - 74 0 0.00 40 9 18.37 DIO1 0 genome.wustl.edu 37 1 54371793 54371793 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 54371793 54371793 G A SNP DIO1 ENST00000388876 human ensembl 74_37 +1 known missense c.363 p.M121I 1.000 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO1 HGNC ENSG00000211452 tier1 - - 28 0 0.00 39 9 18.75 GDPD2 0 genome.wustl.edu 37 X 69647166 69647166 + Silent SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 69647166 69647166 C G SNP GDPD2 ENST00000453994 human ensembl 74_37 +1 known silent c.789 p.S263 0.043 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 tier1 - - 19 0 0.00 18 14 43.75 BCL9L 0 genome.wustl.edu 37 11 118772243 118772243 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 118772243 118772243 G A SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.2209 p.P737S 0.989 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 9 0 0.00 11 8 40.00 SELE 0 genome.wustl.edu 37 1 169697010 169697010 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 169697010 169697010 G A SNP SELE ENST00000333360 human ensembl 74_37 -1 known silent c.1338 p.S446 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 tier1 - - 49 0 0.00 54 11 16.92 KIAA0825 0 genome.wustl.edu 37 5 93489826 93489826 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 93489826 93489826 C T SNP KIAA0825 ENST00000427991 human ensembl 74_37 -1 known nonsense c.3714 p.W1238* 1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 tier1 - - 45 0 0.00 48 17 26.15 SPECC1L 0 genome.wustl.edu 37 22 24698213 24698213 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 24698213 24698213 G A SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.14 p.S5N 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 tier1 - - 78 0 0.00 61 33 34.74 ATP7A 0 genome.wustl.edu 37 X 77245339 77245339 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 77245339 77245339 C T SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known silent c.1221 p.S407 0.876 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 tier1 - - 46 0 0.00 36 25 40.98 OR52E2 0 genome.wustl.edu 37 11 5080082 5080082 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5080082 5080082 G A SNP OR52E2 ENST00000321522 human ensembl 74_37 -1 known missense c.776 p.S259F 0.505 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E2 HGNC ENSG00000176787 tier1 - - 44 0 0.00 58 28 32.56 ABI3BP 0 genome.wustl.edu 37 3 100489667 100489667 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 100489667 100489667 T C SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.2528 p.N843S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 tier1 - - 99 0 0.00 88 55 38.46 TAF6 0 genome.wustl.edu 37 7 99709546 99709546 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 99709546 99709546 C T SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known missense c.797 p.G266E 1.000 superfamily_ARM-type_fold pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 tier1 - - 30 0 0.00 36 10 21.74 TUBB8 0 genome.wustl.edu 37 10 93253 93253 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 93253 93253 C T SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known missense c.1079 p.G360E 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 tier1 - - 122 0 0.00 142 21 12.88 TNIP1 0 genome.wustl.edu 37 5 150411841 150411841 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 150411841 150411841 G A SNP TNIP1 ENST00000521423 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors TNIP1 HGNC ENSG00000145901 tier1 - - 51 0 0.00 45 31 40.79 CEP250 0 genome.wustl.edu 37 20 34078523 34078523 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 34078523 34078523 G A SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.2647 p.E883K 0.960 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 tier1 - - 46 0 0.00 39 23 37.10 DUOX1 0 genome.wustl.edu 37 15 45430157 45430157 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 45430157 45430157 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.1058 p.R353Q 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 tier1 - - 48 0 0.00 19 23 54.76 AFG3L1P 0 genome.wustl.edu 37 16 90066262 90066262 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 90066262 90066262 C T SNP AFG3L1P ENST00000388970 human ensembl 74_37 +1 known rna NULL NULL 0.791 - - - no_errors AFG3L1P HGNC ENSG00000223959 tier1 - - 38 0 0.00 26 11 29.73 TRPM3 0 genome.wustl.edu 37 9 74061680 74061680 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 74061680 74061680 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.72 p.S24 0.995 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 96 0 0.00 79 31 27.93 RFPL3 0 genome.wustl.edu 37 22 32754117 32754117 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 32754117 32754117 C T SNP RFPL3 ENST00000249007 human ensembl 74_37 +1 known missense c.59 p.P20L 0.001 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 tier1 - - 109 0 0.00 126 50 28.41 CSMD2 0 genome.wustl.edu 37 1 34164453 34164453 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 34164453 34164453 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.3825 p.S1275 0.992 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 CSMD2 HGNC ENSG00000121904 tier1 - - 58 0 0.00 81 14 14.74 FAM71B 0 genome.wustl.edu 37 5 156590527 156590527 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 156590527 156590527 G A SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.749 p.P250L 0.000 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 tier1 - - 39 0 0.00 28 24 46.15 RYR1 0 genome.wustl.edu 37 19 39034459 39034459 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 39034459 39034459 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.11956 p.D3986N 1.000 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 24 0 0.00 21 7 25.00 RNF213 0 genome.wustl.edu 37 17 78349617 78349617 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 78349617 78349617 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.13132 p.E4378K 0.991 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 65 0 0.00 61 39 39.00 RPL12 0 genome.wustl.edu 37 9 130210073 130210073 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 130210073 130210073 T C SNP RPL12 ENST00000497322 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RPL12 HGNC ENSG00000197958 tier1 - - 53 0 0.00 42 34 44.74 GOLGA6L1 0 genome.wustl.edu 37 15 22742699 22742699 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 22742699 22742699 G A SNP GOLGA6L1 ENST00000316397 human ensembl 74_37 +1 known missense c.1084 p.E362K 0.018 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L1 HGNC ENSG00000197414 tier1 - - 286 0 0.00 238 47 16.49 SPINT1 0 genome.wustl.edu 37 15 41136786 41136786 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 41136786 41136786 C T SNP SPINT1 ENST00000344051 human ensembl 74_37 +1 known missense c.34 p.L12F 0.000 NULL pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT1 HGNC ENSG00000166145 tier1 - - 9 0 0.00 8 4 33.33 CCDC74B 0 genome.wustl.edu 37 2 130900608 130900608 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 130900608 130900608 C T SNP CCDC74B ENST00000409234 human ensembl 74_37 -1 putative missense c.529 p.G177R 0.003 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 tier1 - - 42 0 0.00 41 11 21.15 MS4A14 0 genome.wustl.edu 37 11 60172041 60172041 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 60172041 60172041 C T SNP MS4A14 ENST00000525397 human ensembl 74_37 +1 known missense c.491 p.P164L 0.002 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 tier1 - - 116 0 0.00 75 31 29.25 AGK 0 genome.wustl.edu 37 7 141351367 141351367 + Silent SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 141351367 141351367 G T SNP AGK ENST00000355413 human ensembl 74_37 +1 known silent c.1089 p.T363 0.944 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 tier1 - - 37 0 0.00 55 27 32.93 MTUS2 0 genome.wustl.edu 37 13 29600198 29600198 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 29600198 29600198 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.1393 p.E465K 0.001 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 70 0 0.00 58 19 24.68 STAT4 0 genome.wustl.edu 37 2 191919252 191919252 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 191919252 191919252 C T SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known silent c.1215 p.K405 1.000 pfam_STAT_TF_D-bd,superfamily_p53-like_TF_D-bd pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 tier1 - - 94 0 0.00 78 21 21.21 KRT5 0 genome.wustl.edu 37 12 52911713 52911713 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 52911713 52911713 C T SNP KRT5 ENST00000252242 human ensembl 74_37 -1 known missense c.895 p.E299K 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 tier1 - - 63 0 0.00 42 27 39.13 GPR110 0 genome.wustl.edu 37 6 46977164 46977164 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 46977164 46977164 G A SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known silent c.2007 p.L669 0.867 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 tier1 - - 34 0 0.00 20 3 13.04 SIRT1 0 genome.wustl.edu 37 10 69648754 69648754 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 69648754 69648754 G A SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known nonsense c.662 p.W221* 1.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 tier1 - - 101 0 0.00 64 22 25.29 ATG13 0 genome.wustl.edu 37 11 46689388 46689388 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 46689388 46689388 C T SNP ATG13 ENST00000312040 human ensembl 74_37 +1 known missense c.1103 p.T368I 1.000 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 tier1 - - 79 0 0.00 60 41 40.59 FASTK 0 genome.wustl.edu 37 7 150776010 150776010 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 150776010 150776010 C T SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.604 p.G202S 0.987 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 tier1 - - 49 0 0.00 50 38 43.18 NDST4 0 genome.wustl.edu 37 4 115997550 115997550 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 115997550 115997550 G A SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.643 p.L215F 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 46 0 0.00 31 14 31.11 PLCZ1 0 genome.wustl.edu 37 12 18889211 18889211 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 18889211 18889211 A G SNP PLCZ1 ENST00000266505 human ensembl 74_37 -1 known silent c.79 p.L27 0.956 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 tier1 - - 109 0 0.00 56 54 49.09 JUP 0 genome.wustl.edu 37 17 39925777 39925777 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 39925777 39925777 G A SNP JUP ENST00000310706 human ensembl 74_37 -1 known nonsense c.361 p.Q121* 1.000 prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 tier1 - - 63 0 0.00 57 35 37.63 CPNE4 0 genome.wustl.edu 37 3 131261457 131261457 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 131261457 131261457 C T SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.1537 p.G513R 1.000 smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 tier1 - - 52 0 0.00 51 33 39.29 LRRC24 0 genome.wustl.edu 37 8 145749572 145749572 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 145749572 145749572 G A SNP LRRC24 ENST00000529415 human ensembl 74_37 -1 known missense c.529 p.L177F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-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 LRRC24 HGNC ENSG00000254402 tier1 - - 19 0 0.00 12 12 50.00 OR6Y1 0 genome.wustl.edu 37 1 158517681 158517681 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 158517681 158517681 G A SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.215 p.S72F 0.688 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 tier1 - - 34 0 0.00 44 8 15.38 B3GALNT1 0 genome.wustl.edu 37 3 160803877 160803877 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 160803877 160803877 G A SNP B3GALNT1 ENST00000320474 human ensembl 74_37 -1 known silent c.666 p.T222 0.220 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GALNT1 HGNC ENSG00000169255 tier1 - - 88 0 0.00 86 25 22.52 KRTAP23-1 0 genome.wustl.edu 37 21 31720836 31720836 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 31720836 31720836 G A SNP KRTAP23-1 ENST00000334160 human ensembl 74_37 -1 known missense c.89 p.S30L 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP23-1 HGNC ENSG00000186980 tier1 - - 50 0 0.00 55 10 15.38 TTLL1 0 genome.wustl.edu 37 22 43459917 43459917 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 43459917 43459917 C T SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known missense c.649 p.G217R 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 tier1 - - 58 0 0.00 51 41 44.57 DCLRE1B 0 genome.wustl.edu 37 1 114449770 114449770 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 114449770 114449770 C T SNP DCLRE1B ENST00000369563 human ensembl 74_37 +1 known silent c.342 p.T114 1.000 NULL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 tier1 - - 58 0 0.00 49 12 19.67 PGBD3 0 genome.wustl.edu 37 10 50724596 50724596 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 50724596 50724596 G A SNP PGBD3 ENST00000603152 human ensembl 74_37 -1 known silent c.1969 p.L657 0.447 NULL NULL - no_errors PGBD3 HGNC ENSG00000243251 tier1 - - 35 0 0.00 28 18 39.13 LOC101927267 0 genome.wustl.edu 37 12 49690334 49690334 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 49690334 49690334 C T SNP LOC101927267 ENST00000553259 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-161H23.9 Clone_based_vega_gene ENSG00000258334 tier1 - - 37 0 0.00 36 9 20.00 IL1B 0 genome.wustl.edu 37 2 113590873 113590873 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 113590873 113590873 G A SNP IL1B ENST00000491056 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors IL1B HGNC ENSG00000125538 tier1 - - 34 0 0.00 10 7 41.18 OBSCN 0 genome.wustl.edu 37 1 228506686 228506686 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 228506686 228506686 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.14233 p.R4745W 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 18 0 0.00 13 9 40.91 LCK 0 genome.wustl.edu 37 1 32742050 32742050 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 32742050 32742050 G A SNP LCK ENST00000333070 human ensembl 74_37 +1 known silent c.744 p.V248 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LCK HGNC ENSG00000182866 tier1 - - 109 0 0.00 145 26 15.12 HEPH 0 genome.wustl.edu 37 X 65390509 65390509 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 65390509 65390509 C T SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.259 p.R87W 0.795 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 tier1 rs201897918 - 31 0 0.00 19 7 26.92 ASNS 0 genome.wustl.edu 37 7 97487649 97487649 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 97487649 97487649 G A SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.844 p.P282S 0.367 pfam_Asn_synthase,tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 tier1 - - 58 0 0.00 58 8 12.12 TAOK2 0 genome.wustl.edu 37 16 29997004 29997004 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 29997004 29997004 C T SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.1814 p.P605L 1.000 NULL 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 TAOK2 HGNC ENSG00000149930 tier1 - - 38 0 0.00 32 29 47.54 RIT1 0 genome.wustl.edu 37 1 155874290 155874290 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 155874290 155874290 C T SNP RIT1 ENST00000368322 human ensembl 74_37 -1 known missense c.292 p.E98K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC ENSG00000143622 tier1 - - 51 0 0.00 39 30 43.48 CTN3 0 genome.wustl.edu 37 10 68139051 68139051 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 68139051 68139051 C T SNP CTN3 ENST00000373744 human ensembl 74_37 -1 known missense c.1591 p.D531N 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN3 HGNC ENSG00000183230 tier1 - - 65 0 0.00 48 13 21.31 KDM3A 0 genome.wustl.edu 37 2 86693706 86693706 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 86693706 86693706 C T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.1219 p.P407S 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 tier1 - - 57 0 0.00 67 35 34.31 ACTR5 0 genome.wustl.edu 37 20 37400341 37400341 + Frame_Shift_Del DEL G G - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 37400341 37400341 G - DEL ACTR5 ENST00000243903 human ensembl 74_37 +1 known frame_shift_del c.1706 p.C569fs 0.060 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 tier1 22 0 0.00 36 15 29.41 CDCA7 0 genome.wustl.edu 37 2 174223548 174223548 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 174223548 174223548 G A SNP CDCA7 ENST00000306721 human ensembl 74_37 +1 known missense c.130 p.D44N 1.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7 HGNC ENSG00000144354 tier1 - - 51 0 0.00 44 22 33.33 PTPN14 0 genome.wustl.edu 37 1 214556693 214556693 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 214556693 214556693 G A SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.2505 p.S835 1.000 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 - - 37 0 0.00 29 25 46.30 OR2M5 0 genome.wustl.edu 37 1 248309347 248309347 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 248309347 248309347 G A SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.898 p.A300T 0.010 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 tier1 - - 64 0 0.00 49 41 45.56 HJURP 0 genome.wustl.edu 37 2 234750475 234750475 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 234750475 234750475 C T SNP HJURP ENST00000411486 human ensembl 74_37 -1 known silent c.951 p.Q317 0.000 pfam_HJURP pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 tier1 - - 52 0 0.00 45 10 18.18 COL24A1 0 genome.wustl.edu 37 1 86590695 86590695 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 86590695 86590695 C T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.1324 p.D442N 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 72 0 0.00 37 21 35.00 FAM45B 0 genome.wustl.edu 37 X 129629474 129629474 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 129629474 129629474 G A SNP FAM45B ENST00000592932 human ensembl 74_37 +1 known rna NULL NULL 0.948 - - - no_errors FAM45B HGNC ENSG00000221930 tier1 - - 58 0 0.00 44 24 35.29 STRN4 0 genome.wustl.edu 37 19 47231154 47231154 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 47231154 47231154 C T SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known missense c.1150 p.E384K 0.999 NULL pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 tier1 - - 50 0 0.00 62 14 18.42 NOP2 0 genome.wustl.edu 37 12 6675465 6675465 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 6675465 6675465 C T SNP NOP2 ENST00000538420 human ensembl 74_37 -1 known missense c.194 p.R65K 0.983 NULL NULL - no_errors NOP2 HGNC ENSG00000111641 tier1 - - 19 0 0.00 11 10 47.62 CSMD1 0 genome.wustl.edu 37 8 3087633 3087633 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 3087633 3087633 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4277 p.G1426E 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 tier1 - - 67 0 0.00 60 36 37.50 C19orf57 0 genome.wustl.edu 37 19 14006231 14006231 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 14006231 14006231 G A SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known missense c.160 p.P54S 0.000 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 tier1 - - 101 0 0.00 100 30 22.90 SEC14L3 0 genome.wustl.edu 37 22 30863008 30863008 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 30863008 30863008 C T SNP SEC14L3 ENST00000215812 human ensembl 74_37 -1 known silent c.480 p.L160 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L3 HGNC ENSG00000100012 tier1 rs142636401 - 59 0 0.00 55 29 34.52 PDZRN3 0 genome.wustl.edu 37 3 73433538 73433538 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 73433538 73433538 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.2179 p.R727C 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 20 0 0.00 20 7 25.93 ACSBG2 0 genome.wustl.edu 37 19 6151750 6151750 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 6151750 6151750 C T SNP ACSBG2 ENST00000252669 human ensembl 74_37 +1 known silent c.330 p.I110 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 tier1 - - 89 0 0.00 65 25 27.78 AADACL4 0 genome.wustl.edu 37 1 12726407 12726407 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 12726407 12726407 G A SNP AADACL4 ENST00000376221 human ensembl 74_37 +1 known silent c.885 p.K295 0.235 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 tier1 - - 14 0 0.00 20 9 31.03 PRMT3 0 genome.wustl.edu 37 11 20414467 20414467 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 20414467 20414467 T G SNP PRMT3 ENST00000331079 human ensembl 74_37 +1 known missense c.322 p.S108A 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tR_Trfase_Trm5/Tyw2 - no_errors PRMT3 HGNC ENSG00000185238 tier1 - - 74 0 0.00 64 19 22.89 ZFHX3 0 genome.wustl.edu 37 16 72822522 72822522 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 72822522 72822522 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.9653 p.P3218L 0.823 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 - - 29 0 0.00 12 18 60.00 FHL5 0 genome.wustl.edu 37 6 97063567 97063567 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 97063567 97063567 C T SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known silent c.774 p.S258 0.670 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 tier1 - - 44 0 0.00 37 18 32.73 HEATR1 0 genome.wustl.edu 37 1 236767332 236767332 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 236767332 236767332 A G SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.64 p.S22P 0.000 NULL pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 tier1 - - 66 0 0.00 55 41 42.71 CELSR1 0 genome.wustl.edu 37 22 46930172 46930172 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 46930172 46930172 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.2896 p.L966F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 - - 33 0 0.00 39 20 33.33 COL5A3 0 genome.wustl.edu 37 19 10088310 10088310 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 10088310 10088310 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.3086 p.S1029N 0.024 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 136 0 0.00 99 63 38.89 CHD6 0 genome.wustl.edu 37 20 40052235 40052235 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 40052235 40052235 A C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.4452 p.I1484M 0.999 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_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 CHD6 HGNC ENSG00000124177 tier1 - - 43 0 0.00 37 24 39.34 TRU1AP 0 genome.wustl.edu 37 1 28904058 28904058 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 28904058 28904058 G T SNP TRU1AP ENST00000373830 human ensembl 74_37 +1 known missense c.774 p.M258I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRU1AP HGNC ENSG00000180098 tier1 - - 37 0 0.00 45 24 34.78 CCDC63 0 genome.wustl.edu 37 12 111345205 111345205 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 111345205 111345205 G A SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known silent c.1617 p.R539 0.000 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 tier1 - - 43 0 0.00 38 7 15.56 NPAS3 0 genome.wustl.edu 37 14 34269007 34269007 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 34269007 34269007 C T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known silent c.1494 p.P498 0.924 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 tier1 rs151099881 - 102 0 0.00 49 54 52.43 ZSWIM6 0 genome.wustl.edu 37 5 60839860 60839860 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 60839860 60839860 C T SNP ZSWIM6 ENST00000252744 human ensembl 74_37 +1 novel missense c.3364 p.H1122Y 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 tier1 - - 58 0 0.00 79 15 15.96 PI4KA 0 genome.wustl.edu 37 22 21188907 21188907 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 21188907 21188907 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.310 p.L104F 0.997 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 135 0 0.00 150 44 22.68 ENSG00000221335 0 genome.wustl.edu 37 21 19264039 19264039 + R SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 19264039 19264039 A G SNP ENSG00000221335 ENST00000408408 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AP000745.1 Clone_based_ensembl_gene ENSG00000221335 tier1 - - 25 0 0.00 26 5 16.13 SLIT2 0 genome.wustl.edu 37 4 20544139 20544139 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 20544139 20544139 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.2166 p.S722 0.822 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 90 0 0.00 85 44 34.11 C8B 0 genome.wustl.edu 37 1 57406609 57406609 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 57406609 57406609 G A SNP C8B ENST00000371237 human ensembl 74_37 -1 known silent c.1311 p.T437 0.918 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 tier1 - - 63 0 0.00 66 27 29.03 TTC1 0 genome.wustl.edu 37 5 159491941 159491941 + Nonsense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 159491941 159491941 A T SNP TTC1 ENST00000231238 human ensembl 74_37 +1 known nonsense c.748 p.K250* 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC1 HGNC ENSG00000113312 tier1 - - 45 0 0.00 29 15 34.09 SLC19A3 0 genome.wustl.edu 37 2 228563864 228563864 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 228563864 228563864 G A SNP SLC19A3 ENST00000258403 human ensembl 74_37 -1 known silent c.567 p.F189 0.541 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A3 HGNC ENSG00000135917 tier1 - - 50 0 0.00 53 17 24.29 RIPK4 0 genome.wustl.edu 37 21 43171362 43171362 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 43171362 43171362 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.518 p.S173L 0.999 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 pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 tier1 - - 56 0 0.00 64 33 34.02 LENEP 0 genome.wustl.edu 37 1 154966128 154966128 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 154966128 154966128 C T SNP LENEP ENST00000368427 human ensembl 74_37 +1 known silent c.45 p.F15 0.978 NULL NULL - no_errors LENEP HGNC ENSG00000163352 tier1 - - 78 0 0.00 82 66 44.59 GGT5 0 genome.wustl.edu 37 22 24622729 24622729 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 24622729 24622729 T C SNP GGT5 ENST00000398292 human ensembl 74_37 -1 known missense c.908 p.N303S 1.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC ENSG00000099998 tier1 - - 69 0 0.00 69 39 36.11 PCDHB8 0 genome.wustl.edu 37 5 140558099 140558099 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140558099 140558099 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.484 p.D162N 0.998 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 PCDHB8 HGNC ENSG00000120322 tier1 - - 192 0 0.00 224 61 21.40 IGF2BP1 0 genome.wustl.edu 37 17 47122427 47122427 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 47122427 47122427 G A SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known silent c.1395 p.K465 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 tier1 - - 134 0 0.00 103 50 32.68 ACSM4 0 genome.wustl.edu 37 12 7463239 7463239 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 7463239 7463239 C T SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.517 p.P173S 0.221 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 tier1 - - 60 0 0.00 61 16 20.78 FGL1 0 genome.wustl.edu 37 8 17731905 17731905 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 17731905 17731905 G A SNP FGL1 ENST00000381840 human ensembl 74_37 -1 known nonsense c.370 p.Q124* 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL1 HGNC ENSG00000104760 tier1 - - 50 0 0.00 47 16 25.40 P2RX6 0 genome.wustl.edu 37 22 21380901 21380901 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 21380901 21380901 C T SNP P2RX6 ENST00000413302 human ensembl 74_37 +1 known silent c.1321 p.L441 0.000 NULL pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 tier1 - - 123 1 0.81 98 45 31.47 RBM12B 0 genome.wustl.edu 37 8 94747818 94747818 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 94747818 94747818 C T SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known missense c.821 p.R274K 0.997 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 tier1 - - 70 0 0.00 47 28 37.33 CYP4B1 0 genome.wustl.edu 37 1 47280768 47280768 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 47280768 47280768 C T SNP CYP4B1 ENST00000464439 human ensembl 74_37 +1 known nonsense c.832 p.Q278* 1.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450 - no_errors CYP4B1 HGNC ENSG00000142973 tier1 - - 37 0 0.00 27 12 30.77 RIMBP2 0 genome.wustl.edu 37 12 130926662 130926662 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 130926662 130926662 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.1184 p.S395F 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 32 0 0.00 33 10 23.26 WRAP53 0 genome.wustl.edu 37 17 7606658 7606658 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 7606658 7606658 C T SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.1501 p.P501S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 tier1 rs1861948 - 36 0 0.00 34 10 22.73 SCN5A 0 genome.wustl.edu 37 3 38645322 38645322 + Nonsense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 38645322 38645322 T A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known nonsense c.1771 p.K591* 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 40 0 0.00 32 26 44.83 SIGLEC12 0 genome.wustl.edu 37 19 52002724 52002724 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 52002724 52002724 G A SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known missense c.1055 p.T352I 0.005 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 tier1 - - 40 0 0.00 50 17 25.00 TMEM168 0 genome.wustl.edu 37 7 112412839 112412839 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 112412839 112412839 C T SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.1543 p.A515T 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 tier1 - - 51 0 0.00 43 17 28.33 LRRC37A3 0 genome.wustl.edu 37 17 62892267 62892267 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 62892267 62892267 G A SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.1109 p.S370F 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 - - 227 0 0.00 234 40 14.60 KCNQ1 0 genome.wustl.edu 37 11 2797203 2797203 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 2797203 2797203 C G SNP KCNQ1 ENST00000155840 human ensembl 74_37 +1 known missense c.1604 p.P535R 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 tier1 - - 32 0 0.00 28 13 31.71 NSUN4 0 genome.wustl.edu 37 1 46808971 46808971 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 46808971 46808971 C T SNP NSUN4 ENST00000498008 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors NSUN4 HGNC ENSG00000117481 tier1 - - 14 0 0.00 19 16 45.71 SMC4 0 genome.wustl.edu 37 3 160135545 160135545 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 160135545 160135545 C T SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.1472 p.S491L 0.726 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 tier1 - - 78 0 0.00 88 38 30.16 CCDC168 0 genome.wustl.edu 37 13 103385281 103385281 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 103385281 103385281 G A SNP CCDC168 ENST00000322527 human ensembl 74_37 -1 known silent c.3879 p.F1293 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 tier1 - - 64 0 0.00 46 20 30.30 MYO1F 0 genome.wustl.edu 37 19 8601415 8601415 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 8601415 8601415 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known silent c.1866 p.A622 0.999 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 tier1 - - 47 0 0.00 40 30 42.86 WEE2 0 genome.wustl.edu 37 7 141420740 141420740 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 141420740 141420740 C T SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known missense c.764 p.S255L 0.360 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,pirsf_Wee1-like_protein_kinase,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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 tier1 rs201995482 - 46 0 0.00 69 15 17.86 EFCAB1 0 genome.wustl.edu 37 8 49642353 49642353 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 49642353 49642353 G A SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known missense c.397 p.L133F 1.000 pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 tier1 - - 98 0 0.00 77 33 30.00 MRPS21 0 genome.wustl.edu 37 1 150280620 150280620 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 150280620 150280620 C A SNP MRPS21 ENST00000309092 human ensembl 74_37 +1 known missense c.222 p.F74L 1.000 NULL pfam_Ribosomal_S21,tigrfam_Ribosomal_S21 - no_errors MRPS21 HGNC ENSG00000187145 tier1 - - 45 0 0.00 20 33 62.26 FOXM1 0 genome.wustl.edu 37 12 2977887 2977887 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 2977887 2977887 G T SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known missense c.688 p.Q230K 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 tier1 - - 75 0 0.00 54 35 39.33 COL12A1 0 genome.wustl.edu 37 6 75884929 75884929 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 75884929 75884929 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.2535 p.L845 0.002 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_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 - - 63 0 0.00 54 19 26.03 WDR66 0 genome.wustl.edu 37 12 122398649 122398649 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 122398649 122398649 G A SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known silent c.2292 p.G764 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 - - 55 0 0.00 30 26 46.43 CHEK2P2 0 genome.wustl.edu 37 15 20496719 20496719 + R SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 20496719 20496719 T A SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CHEK2P2 HGNC ENSG00000259156 tier1 - - 101 0 0.00 44 21 32.31 FOLR3 0 genome.wustl.edu 37 11 71850435 71850435 + Silent SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 71850435 71850435 G T SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known silent c.528 p.L176 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 tier1 - - 82 0 0.00 61 32 34.41 TTI1 0 genome.wustl.edu 37 20 36641177 36641177 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 36641177 36641177 G A SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known nonsense c.1042 p.Q348* 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 tier1 - - 28 0 0.00 37 16 29.09 ALOXE3 0 genome.wustl.edu 37 17 8020268 8020268 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 8020268 8020268 C T SNP ALOXE3 ENST00000318227 human ensembl 74_37 -1 known missense c.574 p.E192K 0.983 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 tier1 - - 35 0 0.00 63 11 14.86 RICTOR 0 genome.wustl.edu 37 5 38962592 38962592 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 38962592 38962592 G T SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.1663 p.L555I 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 59 0 0.00 51 30 37.04 RPL10A 0 genome.wustl.edu 37 6 35436188 35436188 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 35436188 35436188 C T SNP RPL10A ENST00000467020 human ensembl 74_37 +1 known rna NULL NULL 0.961 - - - no_errors RPL10A HGNC ENSG00000198755 tier1 - - 35 0 0.00 34 13 27.66 PCLO 0 genome.wustl.edu 37 7 82544878 82544878 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 82544878 82544878 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12424 p.L4142F 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 64 0 0.00 45 15 25.00 PRG4 0 genome.wustl.edu 37 1 186276983 186276983 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 186276983 186276983 G A SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.2132 p.G711E 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 - - 133 1 0.74 121 91 42.72 PLEC 0 genome.wustl.edu 37 8 144991328 144991328 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 144991328 144991328 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known nonsense c.13072 p.Q4358* 1.000 NULL 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 - - 19 0 0.00 18 4 18.18 ENSG00000225891 0 genome.wustl.edu 37 1 26793713 26793713 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 26793713 26793713 C T SNP ENSG00000225891 ENST00000423060 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RP3-476K8.3 Clone_based_vega_gene ENSG00000225891 tier1 - - 35 0 0.00 46 22 32.35 ABCG4 0 genome.wustl.edu 37 11 119024743 119024743 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 119024743 119024743 G A SNP ABCG4 ENST00000307417 human ensembl 74_37 +1 known silent c.246 p.K82 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 tier1 - - 36 0 0.00 34 24 41.38 C2CD5 0 genome.wustl.edu 37 12 22672105 22672105 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 22672105 22672105 G A SNP C2CD5 ENST00000544930 human ensembl 74_37 -1 known missense c.275 p.T92I 1.000 NULL NULL - no_errors C2CD5 HGNC ENSG00000111731 tier1 - - 98 0 0.00 87 23 20.91 MIPOL1 0 genome.wustl.edu 37 14 37737910 37737910 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 37737910 37737910 C T SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known missense c.299 p.P100L 0.992 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 tier1 - - 65 0 0.00 35 11 23.91 CRP 0 genome.wustl.edu 37 1 159683514 159683514 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 159683514 159683514 G A SNP CRP ENST00000255030 human ensembl 74_37 -1 known missense c.476 p.S159F 0.049 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 tier1 - - 33 0 0.00 35 17 32.69 BPIFB6 0 genome.wustl.edu 37 20 31627169 31627169 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 31627169 31627169 C T SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known missense c.917 p.P306L 0.780 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 tier1 - - 86 0 0.00 68 31 31.31 ZIC2 0 genome.wustl.edu 37 13 100635186 100635186 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 100635186 100635186 G A SNP ZIC2 ENST00000376335 human ensembl 74_37 +1 known missense c.868 p.E290K 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 tier1 - - 42 0 0.00 18 11 36.67 RFX6 0 genome.wustl.edu 37 6 117198534 117198534 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 117198534 117198534 C T SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known silent c.96 p.L32 0.711 NULL pfam_D-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 43 0 0.00 77 13 14.44 NDST4 0 genome.wustl.edu 37 4 115856466 115856466 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 115856466 115856466 A G SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known silent c.1432 p.L478 0.954 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 78 0 0.00 59 30 33.33 RMND5A 0 genome.wustl.edu 37 2 86998741 86998741 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 86998741 86998741 C T SNP RMND5A ENST00000283632 human ensembl 74_37 +1 known missense c.1018 p.R340C 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5A HGNC ENSG00000153561 tier1 - - 107 0 0.00 101 21 17.07 SCAF4 0 genome.wustl.edu 37 21 33057903 33057903 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 33057903 33057903 G A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known silent c.2187 p.F729 1.000 NULL pfam_R_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 tier1 - - 45 0 0.00 38 25 39.68 KAT6A 0 genome.wustl.edu 37 8 41834533 41834533 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 41834533 41834533 C A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.1356 p.W452C 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 tier1 - - 51 0 0.00 26 16 38.10 OLFML3 0 genome.wustl.edu 37 1 114523970 114523970 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 114523970 114523970 G A SNP OLFML3 ENST00000320334 human ensembl 74_37 +1 known missense c.800 p.G267D 0.278 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 tier1 - - 30 0 0.00 18 10 35.71 PSMF1 0 genome.wustl.edu 37 20 1143805 1143805 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 1143805 1143805 G A SNP PSMF1 ENST00000333082 human ensembl 74_37 +1 known missense c.583 p.G195R 1.000 pfam_PI31_Prot_Reg pfam_FP_dom,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC ENSG00000125818 tier1 - - 85 0 0.00 82 28 25.45 CHRNG 0 genome.wustl.edu 37 2 233410306 233410306 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 233410306 233410306 G A SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known silent c.1434 p.L478 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 tier1 - - 31 0 0.00 42 8 16.00 V2 0 genome.wustl.edu 37 11 20065565 20065565 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 20065565 20065565 C T SNP V2 ENST00000396087 human ensembl 74_37 +1 known silent c.3015 p.S1005 0.996 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors V2 HGNC ENSG00000166833 tier1 - - 67 0 0.00 59 39 39.80 YKT6 0 genome.wustl.edu 37 7 44244217 44244217 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 44244217 44244217 C T SNP YKT6 ENST00000223369 human ensembl 74_37 +1 known missense c.155 p.S52L 0.040 superfamily_Longin-like_dom,pfscan_Longin_dom pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin - no_errors YKT6 HGNC ENSG00000106636 tier1 rs141563755 - 73 0 0.00 89 20 18.35 NOL10 0 genome.wustl.edu 37 2 10742991 10742991 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 10742991 10742991 T G SNP NOL10 ENST00000381685 human ensembl 74_37 -1 known missense c.1243 p.M415L 1.000 NULL pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 tier1 - - 62 0 0.00 37 31 45.59 TPST2 0 genome.wustl.edu 37 22 26937025 26937025 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 26937025 26937025 G A SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known missense c.572 p.S191F 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 tier1 - - 61 0 0.00 67 42 38.53 NLRP3 0 genome.wustl.edu 37 1 247611742 247611742 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 247611742 247611742 G C SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.3047 p.S1016T 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 tier1 - - 147 0 0.00 133 47 25.82 GRIK5 0 genome.wustl.edu 37 19 42566691 42566691 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 42566691 42566691 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.457 p.L153F 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 tier1 - - 41 0 0.00 54 25 31.65 ITGA2B 0 genome.wustl.edu 37 17 42452037 42452037 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 42452037 42452037 C A SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.2933 p.G978V 0.972 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 tier1 - - 43 0 0.00 31 28 47.46 ZNF208 0 genome.wustl.edu 37 19 22156635 22156635 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 22156635 22156635 C T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1201 p.E401K 0.024 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 ZNF208 HGNC ENSG00000160321 tier1 - - 39 0 0.00 12 17 58.62 PTPRN2 0 genome.wustl.edu 37 7 157475569 157475569 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 157475569 157475569 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.1918 p.A640T 0.027 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 tier1 - - 35 0 0.00 43 9 17.31 CHST3 0 genome.wustl.edu 37 10 73766992 73766992 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 73766992 73766992 C T SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known missense c.203 p.A68V 0.412 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 tier1 - - 46 0 0.00 38 9 19.15 SPAG9 0 genome.wustl.edu 37 17 49075915 49075915 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 49075915 49075915 C T SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known silent c.1728 p.L576 0.992 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 tier1 - - 99 0 0.00 105 48 31.37 EYA1 0 genome.wustl.edu 37 8 72127655 72127655 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 72127655 72127655 G A SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.1564 p.P522S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 tier1 - - 65 0 0.00 56 35 38.46 RP1L1 0 genome.wustl.edu 37 8 10465863 10465863 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 10465863 10465863 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.5745 p.A1915 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 47 0 0.00 41 17 29.31 CDC40 0 genome.wustl.edu 37 6 110514444 110514444 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 110514444 110514444 T C SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known silent c.249 p.P83 0.911 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 tier1 - - 107 0 0.00 88 29 24.79 KP1 0 genome.wustl.edu 37 3 122145611 122145611 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 122145611 122145611 G A SNP KP1 ENST00000466923 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KP1 HGNC ENSG00000114030 tier1 - - 70 0 0.00 54 26 32.50 PPP1R3A 0 genome.wustl.edu 37 7 113518323 113518323 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 113518323 113518323 C T SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.2824 p.A942T 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 27 0 0.00 25 7 21.88 ENSG00000230615 0 genome.wustl.edu 37 1 44569642 44569642 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 44569642 44569642 C T SNP ENSG00000230615 ENST00000434244 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 tier1 - - 44 0 0.00 21 20 48.78 LMTK3 0 genome.wustl.edu 37 19 49013396 49013396 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 49013396 49013396 C T SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known missense c.332 p.G111E 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 tier1 - - 74 0 0.00 68 20 22.47 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808301 48808301 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 48808301 48808301 C T SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known nonsense c.529 p.R177* 0.969 NULL pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 tier1 - - 21 0 0.00 13 13 50.00 ARCN1 0 genome.wustl.edu 37 11 118444334 118444334 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 118444334 118444334 G A SNP ARCN1 ENST00000359415 human ensembl 74_37 +1 putative splice_site c.1-1 e1-1 0.004 - - - no_errors ARCN1 HGNC ENSG00000095139 tier1 - - 68 0 0.00 62 22 26.19 CD8BP 0 genome.wustl.edu 37 2 107107406 107107406 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 107107406 107107406 C T SNP CD8BP ENST00000416057 human ensembl 74_37 +1 known rna NULL NULL 0.274 - - - no_errors CD8BP HGNC ENSG00000254126 tier1 - - 71 0 0.00 45 31 40.79 LRRC4C 0 genome.wustl.edu 37 11 40136827 40136827 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 40136827 40136827 C T SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.1016 p.R339K 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 27 0 0.00 25 9 26.47 RPRD1A 0 genome.wustl.edu 37 18 33607240 33607240 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 33607240 33607240 C T SNP RPRD1A ENST00000357384 human ensembl 74_37 -1 known missense c.520 p.E174K 1.000 NULL pfam_R_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors RPRD1A HGNC ENSG00000141425 tier1 - - 31 0 0.00 8 17 68.00 GRSF1 0 genome.wustl.edu 37 4 71686522 71686522 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 71686522 71686522 G A SNP GRSF1 ENST00000508091 human ensembl 74_37 -1 known rna NULL NULL 0.620 - - - no_errors GRSF1 HGNC ENSG00000132463 tier1 - - 57 0 0.00 30 24 44.44 DJB8 0 genome.wustl.edu 37 3 128181649 128181649 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 128181649 128181649 G A SNP DJB8 ENST00000319153 human ensembl 74_37 -1 known missense c.440 p.A147V 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJB8 HGNC ENSG00000179407 tier1 - - 51 0 0.00 83 18 17.82 OR5M11 0 genome.wustl.edu 37 11 56310062 56310062 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 56310062 56310062 G A SNP OR5M11 ENST00000528616 human ensembl 74_37 -1 known silent c.672 p.I224 0.071 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M11 HGNC ENSG00000255223 tier1 - - 39 0 0.00 37 9 19.57 AHSA1 0 genome.wustl.edu 37 14 77929031 77929031 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 77929031 77929031 C T SNP AHSA1 ENST00000216479 human ensembl 74_37 +1 known missense c.401 p.A134V 1.000 pfam_AHSA1_N,superfamily_AHSA1_N pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N - no_errors AHSA1 HGNC ENSG00000100591 tier1 - - 91 0 0.00 36 46 56.10 SEC62 0 genome.wustl.edu 37 3 169687135 169687135 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 169687135 169687135 C T SNP SEC62 ENST00000487736 human ensembl 74_37 +1 known missense c.97 p.P33S 0.164 NULL NULL - no_errors SEC62 HGNC ENSG00000008952 tier1 - - 49 0 0.00 41 20 32.79 APOL5 0 genome.wustl.edu 37 22 36123190 36123190 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 36123190 36123190 T C SNP APOL5 ENST00000249044 human ensembl 74_37 +1 known missense c.1075 p.S359P 0.001 NULL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 tier1 - - 44 0 0.00 36 16 30.77 PTPRVP 0 genome.wustl.edu 37 1 202156135 202156136 + R INS - - CCTCGCT TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 202156135 202156136 - CCTCGCT INS PTPRVP ENST00000482597 human ensembl 74_37 +1 known rna NULL NULL 0.022:0.016 - - - no_errors PTPRVP HGNC ENSG00000243323 tier1 CCDC168 0 genome.wustl.edu 37 13 103384309 103384309 + Silent SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 103384309 103384309 A T SNP CCDC168 ENST00000322527 human ensembl 74_37 -1 known silent c.4851 p.I1617 0.004 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 tier1 - - 46 0 0.00 21 7 25.00 SCN11A 0 genome.wustl.edu 37 3 38936064 38936064 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 38936064 38936064 T C SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.2795 p.D932G 0.001 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 43 0 0.00 54 25 31.65 RAPGEF3 0 genome.wustl.edu 37 12 48131351 48131351 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 48131351 48131351 C T SNP RAPGEF3 ENST00000389212 human ensembl 74_37 -1 known silent c.2771 p.*924 0.951 NULL pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 tier1 - - 106 0 0.00 91 18 16.36 HHLA2 0 genome.wustl.edu 37 3 108074095 108074095 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 108074095 108074095 G A SNP HHLA2 ENST00000357759 human ensembl 74_37 +1 known missense c.552 p.M184I 0.000 pfam_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors HHLA2 HGNC ENSG00000114455 tier1 - - 108 0 0.00 83 34 29.06 OSBPL3 0 genome.wustl.edu 37 7 24903199 24903199 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 24903199 24903199 G A SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known silent c.693 p.A231 0.004 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 tier1 - - 44 0 0.00 37 21 36.21 PRRC2C 0 genome.wustl.edu 37 1 171506500 171506500 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 171506500 171506500 C T SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.2392 p.H798Y 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 - - 36 0 0.00 44 12 21.43 CEACAM20 0 genome.wustl.edu 37 19 45016987 45016987 + R SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 45016987 45016987 G T SNP CEACAM20 ENST00000316962 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CEACAM20 HGNC ENSG00000176395 tier1 - - 43 0 0.00 29 20 40.82 MROH7-TTC4 0 genome.wustl.edu 37 1 55152086 55152086 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 55152086 55152086 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known silent c.2676 p.K892 0.226 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 tier1 - - 30 0 0.00 35 15 30.00 CCDC59 0 genome.wustl.edu 37 12 82752088 82752088 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 82752088 82752088 G A SNP CCDC59 ENST00000256151 human ensembl 74_37 -1 known missense c.68 p.S23F 0.015 prints_rR_processing pfam_rR_processing,prints_rR_processing - no_errors CCDC59 HGNC ENSG00000133773 tier1 - - 54 0 0.00 58 13 18.31 PCDHGA5 0 genome.wustl.edu 37 5 140743929 140743929 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140743929 140743929 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.32 p.G11E 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 tier1 - - 53 0 0.00 73 23 23.96 CR2 0 genome.wustl.edu 37 1 207647600 207647600 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 207647600 207647600 G A SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.2255 p.G752E 0.552 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 tier1 - - 62 0 0.00 74 30 28.85 DCAF13 0 genome.wustl.edu 37 8 104432637 104432637 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 104432637 104432637 G T SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.672 p.L224F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 tier1 - - 62 0 0.00 55 34 38.20 PCDHA9 0 genome.wustl.edu 37 5 140229445 140229445 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140229445 140229445 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.1365 p.F455 0.083 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 49 0 0.00 64 29 31.18 SIPA1L3 0 genome.wustl.edu 37 19 38682938 38682938 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38682938 38682938 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.4584 p.E1528 0.972 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 - - 35 0 0.00 35 13 27.08 SLC23A3 0 genome.wustl.edu 37 2 220033797 220033797 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 220033797 220033797 C T SNP SLC23A3 ENST00000455516 human ensembl 74_37 -1 known missense c.470 p.G157E 0.001 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 tier1 - - 24 0 0.00 23 8 25.81 RBAK 0 genome.wustl.edu 37 7 5104176 5104176 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 5104176 5104176 C T SNP RBAK ENST00000353796 human ensembl 74_37 +1 known silent c.1089 p.H363 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors RBAK HGNC ENSG00000146587 tier1 - - 51 0 0.00 52 28 35.00 SLFN13 0 genome.wustl.edu 37 17 33772138 33772138 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 33772138 33772138 G A SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known missense c.562 p.P188S 0.005 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 tier1 - - 34 0 0.00 35 15 30.00 PPP2R5E 0 genome.wustl.edu 37 14 63842777 63842777 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 63842777 63842777 C T SNP PPP2R5E ENST00000337537 human ensembl 74_37 -1 known missense c.1354 p.D452N 1.000 pfam_PP2A_B56,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 tier1 - - 76 0 0.00 23 29 55.77 SVEP1 0 genome.wustl.edu 37 9 113171131 113171131 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 113171131 113171131 T C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.6749 p.H2250R 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 85 0 0.00 90 30 25.00 SPSB3 0 genome.wustl.edu 37 16 1831411 1831411 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 1831411 1831411 C T SNP SPSB3 ENST00000301717 human ensembl 74_37 -1 known missense c.74 p.R25Q 0.993 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB3 HGNC ENSG00000162032 tier1 - - 57 0 0.00 60 29 32.58 GPR123 0 genome.wustl.edu 37 10 134906509 134906509 + Silent SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 134906509 134906509 A C SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative silent c.1780 p.R594 0.018 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 tier1 - - 124 0 0.00 129 30 18.87 HNF1A 0 genome.wustl.edu 37 12 121434601 121434601 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 121434601 121434601 G A SNP HNF1A ENST00000543427 human ensembl 74_37 +1 known silent c.1014 p.Q338 0.001 NULL pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_D-bd_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 - - 26 0 0.00 21 22 51.16 BAI3 0 genome.wustl.edu 37 6 69949033 69949033 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 69949033 69949033 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2729 p.R910K 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 69 0 0.00 43 11 20.37 TTLL1 0 genome.wustl.edu 37 22 43459916 43459916 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 43459916 43459916 C T SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known missense c.650 p.G217E 0.999 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 tier1 - - 61 0 0.00 52 43 45.26 HAP1 0 genome.wustl.edu 37 17 39888488 39888488 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 39888488 39888488 C T SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known silent c.708 p.K236 1.000 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 tier1 - - 75 0 0.00 69 33 32.35 SLFN13 0 genome.wustl.edu 37 17 33772137 33772137 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 33772137 33772137 G A SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known missense c.563 p.P188L 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 tier1 - - 35 0 0.00 35 14 28.57 WWC1 0 genome.wustl.edu 37 5 167850770 167850770 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 167850770 167850770 G A SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.1507 p.E503K 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 tier1 - - 19 0 0.00 16 14 43.75 ADAM21P1 0 genome.wustl.edu 37 14 70713787 70713787 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 70713787 70713787 T C SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors ADAM21P1 HGNC ENSG00000235812 tier1 - - 61 0 0.00 25 33 56.90 POLQ 0 genome.wustl.edu 37 3 121207022 121207022 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 121207022 121207022 C A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.4756 p.V1586L 0.000 NULL pfam_D-dir_D_pol_A_palm_dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_D-dir_D_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_D_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 31 0 0.00 21 4 16.00 CALCR 0 genome.wustl.edu 37 7 93101772 93101772 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 93101772 93101772 T A SNP CALCR ENST00000359558 human ensembl 74_37 -1 known missense c.398 p.K133I 0.001 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCR HGNC ENSG00000004948 tier1 - - 61 0 0.00 71 23 24.47 PIGG 0 genome.wustl.edu 37 4 517561 517561 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 517561 517561 C T SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.1928 p.S643F 0.005 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 tier1 - - 17 0 0.00 30 13 30.23 DTX2 0 genome.wustl.edu 37 7 76112410 76112410 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 76112410 76112410 C T SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known missense c.854 p.S285F 0.997 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 tier1 - - 19 0 0.00 17 17 50.00 LMX1A 0 genome.wustl.edu 37 1 165182896 165182896 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 165182896 165182896 G A SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known silent c.651 p.S217 0.997 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 LMX1A HGNC ENSG00000162761 tier1 - - 62 0 0.00 71 29 29.00 LDHAL6CP 0 genome.wustl.edu 37 12 63397952 63397952 + R SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 63397952 63397952 T G SNP LDHAL6CP ENST00000550738 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LDHAL6CP HGNC ENSG00000250517 tier1 - - 53 0 0.00 67 12 15.19 HPS4 0 genome.wustl.edu 37 22 26861486 26861486 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 26861486 26861486 G A SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known silent c.777 p.I259 0.469 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 tier1 - - 30 0 0.00 46 17 26.98 SRPK1 0 genome.wustl.edu 37 6 35838095 35838095 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 35838095 35838095 T A SNP SRPK1 ENST00000373825 human ensembl 74_37 -1 known missense c.954 p.K318N 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 SRPK1 HGNC ENSG00000096063 tier1 - - 52 0 0.00 35 10 22.22 TMEM231 0 genome.wustl.edu 37 16 75579824 75579824 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 75579824 75579824 C T SNP TMEM231 ENST00000568377 human ensembl 74_37 -1 known missense c.425 p.G142E 1.000 pfam_TMEM231 pfam_TMEM231 - no_errors TMEM231 HGNC ENSG00000205084 tier1 - - 45 0 0.00 14 12 46.15 DGKH 0 genome.wustl.edu 37 13 42773788 42773788 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 42773788 42773788 G A SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.2372 p.R791K 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 tier1 - - 75 0 0.00 50 16 24.24 ZNF534 0 genome.wustl.edu 37 19 52942154 52942154 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 52942154 52942154 C T SNP ZNF534 ENST00000332323 human ensembl 74_37 +1 known missense c.1480 p.L494F 0.344 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 ZNF534 HGNC ENSG00000198633 tier1 - - 80 0 0.00 51 13 20.31 TMPRSS9 0 genome.wustl.edu 37 19 2416595 2416595 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 2416595 2416595 G A SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.1703 p.G568E 0.659 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 tier1 - - 25 0 0.00 43 12 21.82 SLFN13 0 genome.wustl.edu 37 17 33767962 33767962 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 33767962 33767962 G A SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known silent c.2346 p.N782 0.005 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 tier1 - - 30 0 0.00 24 14 36.84 GUCY1B3 0 genome.wustl.edu 37 4 156724875 156724875 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 156724875 156724875 G A SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known missense c.1513 p.E505K 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 tier1 - - 49 0 0.00 50 15 23.08 PHIP 0 genome.wustl.edu 37 6 79707142 79707142 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 79707142 79707142 A G SNP PHIP ENST00000275034 human ensembl 74_37 -1 known silent c.2190 p.A730 0.926 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 tier1 - - 28 0 0.00 17 12 41.38 ZNF732 0 genome.wustl.edu 37 4 265861 265861 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 265861 265861 G A SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known missense c.785 p.S262F 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF732 HGNC ENSG00000186777 tier1 - - 39 0 0.00 35 19 35.19 GIGYF1 0 genome.wustl.edu 37 7 100284304 100284304 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 100284304 100284304 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.662 p.R221Q 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 tier1 - - 34 0 0.00 26 23 46.94 ZNF844 0 genome.wustl.edu 37 19 12186142 12186142 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 12186142 12186142 G A SNP ZNF844 ENST00000441304 human ensembl 74_37 +1 putative missense c.146 p.R49K 0.047 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 tier1 - - 121 0 0.00 61 40 39.60 PTPN14 0 genome.wustl.edu 37 1 214706579 214706579 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 214706579 214706579 G A SNP PTPN14 ENST00000491277 human ensembl 74_37 -1 putative rna NULL NULL 0.012 - - - no_errors PTPN14 HGNC ENSG00000152104 tier1 - - 24 0 0.00 21 19 47.50 ALDOA 0 genome.wustl.edu 37 16 30079987 30079987 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30079987 30079987 C T SNP ALDOA ENST00000338110 human ensembl 74_37 +1 known silent c.345 p.P115 0.999 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 tier1 - - 66 0 0.00 72 33 31.43 SLC30A3 0 genome.wustl.edu 37 2 27480070 27480070 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 27480070 27480070 G A SNP SLC30A3 ENST00000233535 human ensembl 74_37 -1 known silent c.729 p.L243 0.993 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 tier1 - - 73 0 0.00 121 23 15.97 SESTD1 0 genome.wustl.edu 37 2 179977557 179977557 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179977557 179977557 G A SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.1855 p.P619S 1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 tier1 - - 34 0 0.00 28 5 15.15 ZNF679 0 genome.wustl.edu 37 7 63726669 63726669 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 63726669 63726669 C T SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known missense c.658 p.P220S 0.006 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 ZNF679 HGNC ENSG00000197123 tier1 - - 78 0 0.00 79 15 15.96 BARX1 0 genome.wustl.edu 37 9 96715201 96715201 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 96715201 96715201 C T SNP BARX1 ENST00000253968 human ensembl 74_37 -1 known silent c.492 p.Q164 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors BARX1 HGNC ENSG00000131668 tier1 rs142710643 - 14 0 0.00 11 8 42.11 SGSM1 0 genome.wustl.edu 37 22 25251312 25251312 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 25251312 25251312 C T SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.584 p.P195L 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 tier1 - - 26 0 0.00 23 11 32.35 ATP2A1 0 genome.wustl.edu 37 16 28912048 28912048 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 28912048 28912048 G A SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known silent c.1911 p.R637 0.116 pfam_HAD-like_dom,superfamily_HAD-like_dom,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 ATP2A1 HGNC ENSG00000196296 tier1 - - 65 0 0.00 55 34 38.20 USP37 0 genome.wustl.edu 37 2 219360518 219360518 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 219360518 219360518 C T SNP USP37 ENST00000258399 human ensembl 74_37 -1 known silent c.1437 p.L479 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 tier1 - - 93 0 0.00 95 14 12.84 PCLO 0 genome.wustl.edu 37 7 82763807 82763807 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 82763807 82763807 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.3059 p.R1020K 0.854 superfamily_Znf_FYVE_PHD pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 84 0 0.00 83 18 17.82 CD8BP 0 genome.wustl.edu 37 2 107107405 107107405 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 107107405 107107405 C T SNP CD8BP ENST00000416057 human ensembl 74_37 +1 known rna NULL NULL 0.244 - - - no_errors CD8BP HGNC ENSG00000254126 tier1 - - 70 0 0.00 45 31 40.79 CEACAMP10 0 genome.wustl.edu 37 19 43716598 43716598 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 43716598 43716598 G A SNP CEACAMP10 ENST00000489959 human ensembl 74_37 -1 known rna NULL NULL 0.118 - - - no_errors CEACAMP10 HGNC ENSG00000241104 tier1 - - 45 0 0.00 31 38 55.07 BCL11A 0 genome.wustl.edu 37 2 60687935 60687935 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 60687935 60687935 C T SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known silent c.2112 p.G704 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 tier1 - - 39 0 0.00 39 15 27.78 RADIL 0 genome.wustl.edu 37 7 4862080 4862080 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 4862080 4862080 G A SNP RADIL ENST00000399583 human ensembl 74_37 -1 known silent c.1560 p.I520 0.833 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 tier1 - - 32 0 0.00 27 16 37.21 HLA-DRB5 0 genome.wustl.edu 37 6 32487164 32487164 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 32487164 32487164 G A SNP HLA-DRB5 ENST00000374975 human ensembl 74_37 -1 known missense c.635 p.P212L 0.118 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRB5 HGNC ENSG00000198502 tier1 rs111541713 - 91 0 0.00 79 47 37.30 TNFRSF19 0 genome.wustl.edu 37 13 24233223 24233223 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 24233223 24233223 C T SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known silent c.480 p.S160 1.000 prints_TNFR_19 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 tier1 - - 26 0 0.00 19 4 17.39 DSPP 0 genome.wustl.edu 37 4 88533801 88533801 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 88533801 88533801 A T SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.463 p.N155Y 0.000 NULL NULL - no_errors DSPP HGNC ENSG00000152591 tier1 - - 45 0 0.00 44 22 33.33 C6orf47-AS1 0 genome.wustl.edu 37 6 31628399 31628399 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 31628399 31628399 C T SNP C6orf47-AS1 ENST00000422049 human ensembl 74_37 +1 known rna NULL NULL 0.301 - - - no_errors C6orf47-AS1 HGNC ENSG00000227198 tier1 - - 27 0 0.00 21 29 58.00 OPCML 0 genome.wustl.edu 37 11 132306560 132306560 + Nonsense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 132306560 132306560 C A SNP OPCML ENST00000541867 human ensembl 74_37 -1 known nonsense c.778 p.E260* 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 tier1 - - 63 0 0.00 39 32 45.07 MLST8 0 genome.wustl.edu 37 16 2258589 2258589 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 2258589 2258589 G A SNP MLST8 ENST00000397124 human ensembl 74_37 +1 known silent c.837 p.S279 0.214 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,prints_G-protein_beta_WD-40_rep - no_errors MLST8 HGNC ENSG00000167965 tier1 - - 18 0 0.00 31 9 22.50 MYO16 0 genome.wustl.edu 37 13 109792910 109792910 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 109792910 109792910 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.4284 p.G1428 0.010 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 18 0 0.00 13 5 27.78 SPTLC1 0 genome.wustl.edu 37 9 94871067 94871067 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 94871067 94871067 G A SNP SPTLC1 ENST00000262554 human ensembl 74_37 -1 known missense c.215 p.P72L 0.991 superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC1 HGNC ENSG00000090054 tier1 - - 66 0 0.00 41 29 41.43 CTPS1 0 genome.wustl.edu 37 1 41475838 41475838 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 41475838 41475838 C T SNP CTPS1 ENST00000372616 human ensembl 74_37 +1 known missense c.1697 p.T566I 1.000 NULL pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS1 HGNC ENSG00000171793 tier1 - - 93 0 0.00 92 44 32.35 TRIM42 0 genome.wustl.edu 37 3 140401662 140401662 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 140401662 140401662 G A SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.700 p.G234R 0.488 smart_Znf_B-box pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 67 0 0.00 87 35 28.69 TRIM43 0 genome.wustl.edu 37 2 96259841 96259841 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 96259841 96259841 G A SNP TRIM43 ENST00000272395 human ensembl 74_37 +1 known missense c.70 p.D24N 0.063 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM43 HGNC ENSG00000144015 tier1 - - 75 0 0.00 101 16 13.68 PXDC1 0 genome.wustl.edu 37 6 3739153 3739153 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 3739153 3739153 G A SNP PXDC1 ENST00000485986 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PXDC1 HGNC ENSG00000168994 tier1 - - 44 0 0.00 39 17 30.36 LOXHD1 0 genome.wustl.edu 37 18 44113129 44113129 + Silent SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 44113129 44113129 C A SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known silent c.4371 p.L1457 1.000 superfamily_Lipase_LipOase pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 50 0 0.00 43 4 8.51 CDKL4 0 genome.wustl.edu 37 2 39414784 39414784 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 39414784 39414784 G A SNP CDKL4 ENST00000378803 human ensembl 74_37 -1 known missense c.719 p.P240L 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_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 CDKL4 HGNC ENSG00000205111 tier1 - - 84 0 0.00 44 40 47.62 CXCR6 0 genome.wustl.edu 37 3 45988820 45988820 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 45988820 45988820 C T SNP CXCR6 ENST00000304552 human ensembl 74_37 +1 known missense c.847 p.L283F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR6 HGNC ENSG00000172215 tier1 - - 59 0 0.00 48 14 22.58 PYCR1 0 genome.wustl.edu 37 17 79891160 79891160 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 79891160 79891160 C T SNP PYCR1 ENST00000329875 human ensembl 74_37 -1 known missense c.890 p.G297E 0.000 NULL pfam_G3P_DH_D-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR1 HGNC ENSG00000183010 tier1 - - 28 0 0.00 32 10 23.81 CCDC171 0 genome.wustl.edu 37 9 15846728 15846728 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 15846728 15846728 G A SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.3296 p.R1099K 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 tier1 - - 28 0 0.00 14 19 57.58 COLGALT2 0 genome.wustl.edu 37 1 183914611 183914611 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 183914611 183914611 C T SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known silent c.1224 p.R408 0.890 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 tier1 - - 70 0 0.00 58 39 40.21 EGFEM1P 0 genome.wustl.edu 37 3 168546942 168546942 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 168546942 168546942 C T SNP EGFEM1P ENST00000382864 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EGFEM1P HGNC ENSG00000206120 tier1 - - 57 0 0.00 67 42 38.18 C9orf131 0 genome.wustl.edu 37 9 35044479 35044479 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 35044479 35044479 G A SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.1853 p.G618E 0.275 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 tier1 - - 30 0 0.00 28 15 34.88 HMHA1 0 genome.wustl.edu 37 19 1083180 1083180 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1083180 1083180 G A SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.2783 p.G928E 0.995 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 tier1 - - 27 0 0.00 41 12 22.64 NEB 0 genome.wustl.edu 37 2 152521285 152521285 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 152521285 152521285 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.5331 p.I1777 0.564 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 79 0 0.00 50 39 43.82 ZFHX2 0 genome.wustl.edu 37 14 23992575 23992575 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 23992575 23992575 G A SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known silent c.6576 p.A2192 0.982 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 tier1 - - 73 0 0.00 27 44 61.97 DH5 0 genome.wustl.edu 37 5 13753556 13753556 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 13753556 13753556 C T SNP DH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10658 p.R3553Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH5 HGNC ENSG00000039139 tier1 rs144393366 - 58 0 0.00 54 30 35.71 ENSG00000239674 0 genome.wustl.edu 37 22 32539245 32539245 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 32539245 32539245 T C SNP ENSG00000239674 ENST00000436294 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP1-127L4.7 Clone_based_vega_gene ENSG00000239674 tier1 - - 9 0 0.00 4 4 50.00 BIN3 0 genome.wustl.edu 37 8 22481521 22481521 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 22481521 22481521 G A SNP BIN3 ENST00000276416 human ensembl 74_37 -1 known silent c.522 p.A174 0.999 pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom - no_errors BIN3 HGNC ENSG00000147439 tier1 - - 28 0 0.00 33 10 23.26 KIF21B 0 genome.wustl.edu 37 1 200959146 200959146 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 200959146 200959146 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.3056 p.S1019F 0.855 superfamily_Prefoldin pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 24 0 0.00 37 6 13.33 AHK 0 genome.wustl.edu 37 11 62287631 62287631 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 62287631 62287631 G A SNP AHK ENST00000378024 human ensembl 74_37 -1 known missense c.14258 p.P4753L 0.942 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 - - 153 0 0.00 119 63 34.43 ECE2 0 genome.wustl.edu 37 3 183994374 183994374 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 183994374 183994374 C T SNP ECE2 ENST00000357474 human ensembl 74_37 +1 novel missense c.145 p.P49S 0.072 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 27 0 0.00 38 21 35.59 SH2D7 0 genome.wustl.edu 37 15 78390434 78390434 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 78390434 78390434 C T SNP SH2D7 ENST00000409568 human ensembl 74_37 +1 putative missense c.22 p.R8W 0.999 NULL NULL - no_errors SH2D7 HGNC ENSG00000183476 tier1 - - 8 0 0.00 4 8 66.67 CTN2 0 genome.wustl.edu 37 2 80783008 80783008 + Silent SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 80783008 80783008 T A SNP CTN2 ENST00000361291 human ensembl 74_37 +1 known silent c.1833 p.L611 0.907 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN2 HGNC ENSG00000066032 tier1 - - 36 0 0.00 25 16 39.02 FAM160A2 0 genome.wustl.edu 37 11 6232677 6232677 + R SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 6232677 6232677 A T SNP FAM160A2 ENST00000529360 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors FAM160A2 HGNC ENSG00000051009 tier1 - - 63 0 0.00 32 17 34.69 LOC100133077 0 genome.wustl.edu 37 9 140786440 140786440 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 140786440 140786440 G A SNP LOC100133077 ENST00000371390 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-188C12.3 Clone_based_vega_gene ENSG00000203987 tier1 - - 54 0 0.00 37 22 37.29 RIMS2 0 genome.wustl.edu 37 8 105263957 105263957 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 105263957 105263957 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3959 p.S1320F 1.000 superfamily_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 68 0 0.00 57 25 30.49 NRXN3 0 genome.wustl.edu 37 14 78709968 78709968 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 78709968 78709968 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.532 p.D178N 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 42 0 0.00 9 6 40.00 ALMS1 0 genome.wustl.edu 37 2 73681154 73681154 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 73681154 73681154 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.7497 p.L2499 0.997 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 57 0 0.00 28 24 46.15 MYH14 0 genome.wustl.edu 37 19 50735284 50735284 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 50735284 50735284 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known silent c.1071 p.L357 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 65 0 0.00 53 13 19.70 EXOC6 0 genome.wustl.edu 37 10 94669234 94669234 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 94669234 94669234 C T SNP EXOC6 ENST00000371547 human ensembl 74_37 +1 known missense c.557 p.P186L 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 tier1 - - 138 0 0.00 80 39 32.77 ENSG00000254551 0 genome.wustl.edu 37 11 82920661 82920661 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 82920661 82920661 C T SNP ENSG00000254551 ENST00000531869 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-727A23.7 Clone_based_vega_gene ENSG00000254551 tier1 - - 79 0 0.00 99 26 20.63 HNRNPK 0 genome.wustl.edu 37 9 86593139 86593139 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 86593139 86593139 A G SNP HNRNPK ENST00000376263 human ensembl 74_37 -1 known missense c.29 p.F10S 1.000 pfam_ROK_N pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 tier1 - - 73 0 0.00 62 12 16.22 GLB1L2 0 genome.wustl.edu 37 11 134244501 134244501 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 134244501 134244501 G A SNP GLB1L2 ENST00000339772 human ensembl 74_37 +1 known nonsense c.1713 p.W571* 1.000 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 tier1 - - 36 0 0.00 23 11 32.35 RNF222 0 genome.wustl.edu 37 17 8296715 8296715 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 8296715 8296715 C T SNP RNF222 ENST00000344001 human ensembl 74_37 -1 known missense c.65 p.R22Q 0.906 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF222 HGNC ENSG00000189051 tier1 - - 16 0 0.00 20 8 27.59 FLNC 0 genome.wustl.edu 37 7 128498132 128498132 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 128498132 128498132 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.7851 p.S2617 0.002 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 103 0 0.00 124 61 32.62 NCOR2 0 genome.wustl.edu 37 12 124841221 124841221 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 124841221 124841221 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.3229 p.P1077S 0.353 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 45 0 0.00 34 31 47.69 ENSG00000240401 0 genome.wustl.edu 37 2 55535926 55535926 + R SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 55535926 55535926 A G SNP ENSG00000240401 ENST00000366287 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors AC012358.8 Clone_based_vega_gene ENSG00000240401 tier1 - - 62 0 0.00 63 17 21.25 C10orf71 0 genome.wustl.edu 37 10 50531798 50531798 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 50531798 50531798 A C SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known missense c.1208 p.Q403P 0.000 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 tier1 - - 35 0 0.00 37 8 17.78 HEATR1 0 genome.wustl.edu 37 1 236719489 236719489 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 236719489 236719489 G A SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.5425 p.L1809F 0.895 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 tier1 - - 53 0 0.00 43 25 36.23 TMEM11 0 genome.wustl.edu 37 17 21102021 21102021 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 21102021 21102021 A G SNP TMEM11 ENST00000317635 human ensembl 74_37 -1 known silent c.195 p.T65 0.296 NULL NULL - no_errors TMEM11 HGNC ENSG00000178307 tier1 - - 26 0 0.00 36 17 32.08 MCM3AP 0 genome.wustl.edu 37 21 47704037 47704037 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47704037 47704037 G A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known silent c.1164 p.S388 0.273 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 tier1 - - 63 0 0.00 78 32 29.09 MAST4 0 genome.wustl.edu 37 5 66088026 66088026 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 66088026 66088026 C T SNP MAST4 ENST00000451144 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MAST4 HGNC ENSG00000069020 tier1 - - 69 0 0.00 50 27 35.06 EDC4 0 genome.wustl.edu 37 16 67914702 67914702 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 67914702 67914702 C T SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known silent c.2340 p.S780 0.987 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 tier1 - - 19 0 0.00 11 11 50.00 CEP290 0 genome.wustl.edu 37 12 88474097 88474097 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 88474097 88474097 C T SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known silent c.5094 p.Q1698 0.997 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 tier1 - - 53 0 0.00 40 12 23.08 SLC22A12 0 genome.wustl.edu 37 11 64366349 64366349 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 64366349 64366349 C T SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known missense c.1024 p.R342C 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 tier1 - - 58 0 0.00 63 31 32.98 RPS6KA1 0 genome.wustl.edu 37 1 26878196 26878196 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 26878196 26878196 C T SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known silent c.477 p.F159 1.000 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 tier1 - - 44 0 0.00 55 14 20.00 ZFAT 0 genome.wustl.edu 37 8 135596113 135596113 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 135596113 135596113 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.2849 p.G950E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 92 0 0.00 72 43 37.39 GPR137 0 genome.wustl.edu 37 11 64056753 64056753 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 64056753 64056753 C T SNP GPR137 ENST00000313074 human ensembl 74_37 +1 known silent c.1170 p.A390 0.995 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 tier1 - - 40 0 0.00 40 25 38.46 UGGT1 0 genome.wustl.edu 37 2 128867235 128867235 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 128867235 128867235 G A SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.436 p.G146R 0.824 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 55 0 0.00 36 28 43.75 ATP11A 0 genome.wustl.edu 37 13 113488923 113488923 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 113488923 113488923 G A SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.1580 p.R527K 0.998 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 tier1 - - 115 0 0.00 69 26 27.37 TTC39A 0 genome.wustl.edu 37 1 51761744 51761744 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 51761744 51761744 G A SNP TTC39A ENST00000371747 human ensembl 74_37 -1 putative silent c.1257 p.V419 0.100 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39 - no_errors TTC39A HGNC ENSG00000085831 tier1 - - 68 0 0.00 79 40 33.61 PTPRN2 0 genome.wustl.edu 37 7 157959837 157959837 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 157959837 157959837 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.765 p.K255 0.024 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 tier1 - - 89 0 0.00 110 20 15.38 WDR93 0 genome.wustl.edu 37 15 90255295 90255295 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 90255295 90255295 G A SNP WDR93 ENST00000268130 human ensembl 74_37 +1 known silent c.600 p.E200 0.007 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 tier1 - - 102 0 0.00 41 49 54.44 ARFGAP1 0 genome.wustl.edu 37 20 61915813 61915813 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 61915813 61915813 C T SNP ARFGAP1 ENST00000468975 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ARFGAP1 HGNC ENSG00000101199 tier1 - - 51 0 0.00 37 19 33.93 PEG10 0 genome.wustl.edu 37 7 94298383 94298383 + R SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 94298383 94298383 T A SNP PEG10 ENST00000465184 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PEG10 HGNC ENSG00000242265 tier1 - - 61 0 0.00 69 15 17.86 TAS2R5 0 genome.wustl.edu 37 7 141491051 141491051 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 141491051 141491051 G A SNP TAS2R5 ENST00000247883 human ensembl 74_37 +1 known nonsense c.890 p.W297* 0.000 NULL pfam_TAS2_rcpt - no_errors TAS2R5 HGNC ENSG00000127366 tier1 - - 23 0 0.00 40 10 20.00 BRF2 0 genome.wustl.edu 37 8 37702291 37702291 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 37702291 37702291 G A SNP BRF2 ENST00000220659 human ensembl 74_37 -1 known missense c.977 p.P326L 0.000 NULL pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 tier1 - - 35 0 0.00 35 8 18.60 ADNP2 0 genome.wustl.edu 37 18 77896525 77896525 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 77896525 77896525 T A SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.3229 p.S1077T 0.115 superfamily_Homeodomain-like,smart_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 tier1 - - 82 0 0.00 24 28 53.85 PCDHGA2 0 genome.wustl.edu 37 5 140719689 140719689 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140719689 140719689 G T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.1151 p.C384F 0.896 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 PCDHGA2 HGNC ENSG00000081853 tier1 - - 66 0 0.00 76 16 17.39 CHSY3 0 genome.wustl.edu 37 5 129520880 129520880 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 129520880 129520880 C T SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.2045 p.P682L 1.000 pfam_Chond_Galc pfam_Chond_Galc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 tier1 - - 25 0 0.00 31 9 22.50 TIMP1 0 genome.wustl.edu 37 X 47446025 47446025 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 47446025 47446025 C T SNP TIMP1 ENST00000218388 human ensembl 74_37 +1 known missense c.559 p.L187F 0.927 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP1 HGNC ENSG00000102265 tier1 - - 12 0 0.00 22 12 35.29 RARRES3 0 genome.wustl.edu 37 11 63307081 63307081 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 63307081 63307081 C T SNP RARRES3 ENST00000255688 human ensembl 74_37 +1 known missense c.103 p.H35Y 0.999 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 tier1 - - 58 0 0.00 55 37 40.22 FLG2 0 genome.wustl.edu 37 1 152325695 152325695 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 152325695 152325695 C T SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.4567 p.G1523S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 101 1 0.98 104 45 30.20 CR1 0 genome.wustl.edu 37 1 207751155 207751155 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 207751155 207751155 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.4543 p.P1515S 0.010 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 tier1 - - 142 0 0.00 185 27 12.74 PCDH9 0 genome.wustl.edu 37 13 67205408 67205408 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 67205408 67205408 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.3274 p.E1092K 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 50 0 0.00 42 10 19.23 TYK2 0 genome.wustl.edu 37 19 10467269 10467269 + Silent SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 10467269 10467269 A T SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known silent c.2592 p.R864 0.678 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 tier1 - - 58 0 0.00 56 16 22.22 KDM3B 0 genome.wustl.edu 37 5 137766111 137766111 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 137766111 137766111 C T SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known silent c.5067 p.H1689 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 tier1 - - 53 0 0.00 49 21 30.00 ZBED5 0 genome.wustl.edu 37 11 10875745 10875745 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 10875745 10875745 G A SNP ZBED5 ENST00000413761 human ensembl 74_37 -1 putative missense c.748 p.R250C 0.997 NULL superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd - no_errors ZBED5 HGNC ENSG00000236287 tier1 - - 21 0 0.00 17 11 39.29 ITIH5 0 genome.wustl.edu 37 10 7618664 7618664 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 7618664 7618664 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known nonsense c.1730 p.W577* 1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 45 0 0.00 48 6 11.11 ABCC12 0 genome.wustl.edu 37 16 48155692 48155692 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 48155692 48155692 C A SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.1647 p.Q549H 0.998 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 36 0 0.00 46 4 8.00 V3 0 genome.wustl.edu 37 12 78553058 78553058 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 78553058 78553058 G A SNP V3 ENST00000397909 human ensembl 74_37 +1 known missense c.4861 p.E1621K 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors V3 HGNC ENSG00000067798 tier1 - - 56 0 0.00 42 29 40.85 PCDHAC2 0 genome.wustl.edu 37 5 140348419 140348419 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140348419 140348419 G A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.2068 p.D690N 0.999 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 tier1 - - 47 0 0.00 49 11 17.74 LMBRD2 0 genome.wustl.edu 37 5 36114598 36114598 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 36114598 36114598 G A SNP LMBRD2 ENST00000296603 human ensembl 74_37 -1 known missense c.1568 p.S523F 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD2 HGNC ENSG00000164187 tier1 - - 155 0 0.00 121 55 31.25 NEAT1 0 genome.wustl.edu 37 11 65211958 65211958 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 65211958 65211958 C T SNP NEAT1 ENST00000384994 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors NEAT1 HGNC ENSG00000245532 tier1 - - 57 0 0.00 50 39 42.86 CRTAC1 0 genome.wustl.edu 37 10 99770920 99770920 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 99770920 99770920 C A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.199 p.G67W 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 tier1 - - 48 0 0.00 46 4 8.00 PSMC2 0 genome.wustl.edu 37 7 103008415 103008415 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 103008415 103008415 G C SNP PSMC2 ENST00000292644 human ensembl 74_37 +1 known missense c.1216 p.E406Q 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 tier1 - - 31 0 0.00 27 23 46.00 SELK 0 genome.wustl.edu 37 3 53922480 53922480 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 53922480 53922480 G A SNP SELK ENST00000541726 human ensembl 74_37 -1 known missense c.50 p.P17L 1.000 pfam_Se_SelK/SelG pfam_Se_SelK/SelG - no_errors SELK Uniprot_gn ENSG00000113811 tier1 - - 59 0 0.00 54 21 28.00 PCDHA11 0 genome.wustl.edu 37 5 140250308 140250308 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140250308 140250308 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1620 p.G540 0.146 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 79 0 0.00 84 36 30.00 OR6C6 0 genome.wustl.edu 37 12 55688132 55688132 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 55688132 55688132 C T SNP OR6C6 ENST00000358433 human ensembl 74_37 -1 known silent c.885 p.V295 0.910 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C6 HGNC ENSG00000188324 tier1 - - 84 0 0.00 59 11 15.71 APOB 0 genome.wustl.edu 37 2 21235215 21235215 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 21235215 21235215 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.4525 p.P1509S 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 59 0 0.00 76 36 32.14 C18orf8 0 genome.wustl.edu 37 18 21087017 21087017 + Frame_Shift_Del DEL T T - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 21087017 21087017 T - DEL C18orf8 ENST00000269221 human ensembl 74_37 +1 known frame_shift_del c.263 p.V88fs 1.000 superfamily_WD40_repeat_dom pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 tier1 115 0 0.00 92 22 19.30 SKA3 0 genome.wustl.edu 37 13 21732153 21732153 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 21732153 21732153 C T SNP SKA3 ENST00000314759 human ensembl 74_37 -1 known missense c.1027 p.D343N 0.013 NULL NULL - no_errors SKA3 HGNC ENSG00000165480 tier1 - - 202 0 0.00 154 28 15.30 KIF1A 0 genome.wustl.edu 37 2 241659270 241659270 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 241659270 241659270 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.4942 p.P1648S 0.212 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 43 0 0.00 30 14 31.82 PPFIA3 0 genome.wustl.edu 37 19 49649428 49649428 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 49649428 49649428 C T SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known silent c.2814 p.T938 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 tier1 - - 35 0 0.00 45 8 15.09 GPR78 0 genome.wustl.edu 37 4 8588896 8588896 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 8588896 8588896 C T SNP GPR78 ENST00000382487 human ensembl 74_37 +1 known missense c.898 p.P300S 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 tier1 - - 109 0 0.00 122 82 40.20 PDE12 0 genome.wustl.edu 37 3 57543205 57543205 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 57543205 57543205 G A SNP PDE12 ENST00000311180 human ensembl 74_37 +1 known missense c.1099 p.A367T 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 tier1 - - 33 0 0.00 38 18 32.14 DHDH 0 genome.wustl.edu 37 19 49442736 49442736 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 49442736 49442736 G A SNP DHDH ENST00000221403 human ensembl 74_37 +1 known missense c.397 p.E133K 0.988 NULL pfam_Oxidoreductase_N - no_errors DHDH HGNC ENSG00000104808 tier1 - - 49 0 0.00 48 17 26.15 FAM194B 0 genome.wustl.edu 37 13 46170969 46170969 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 46170969 46170969 C T SNP FAM194B ENST00000298738 human ensembl 74_37 -1 known missense c.172 p.D58N 0.001 NULL NULL - no_errors FAM194B HGNC ENSG00000165837 tier1 - - 74 0 0.00 38 15 28.30 C6 0 genome.wustl.edu 37 5 41149432 41149432 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 41149432 41149432 C T SNP C6 ENST00000263413 human ensembl 74_37 -1 known nonsense c.2534 p.W845* 1.000 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 tier1 - - 42 0 0.00 71 8 10.13 RGS12 0 genome.wustl.edu 37 4 3319035 3319035 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 3319035 3319035 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.1138 p.L380F 0.013 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 - - 39 0 0.00 27 9 25.00 MUC16 0 genome.wustl.edu 37 19 9068865 9068865 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 9068865 9068865 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.18581 p.S6194L 0.009 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 81 0 0.00 49 38 43.18 SLC25A6 0 genome.wustl.edu 37 X 1508618 1508618 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 1508618 1508618 G A SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known silent c.114 p.V38 0.833 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,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 tier1 - - 49 0 0.00 65 46 41.44 TRMT10A 0 genome.wustl.edu 37 4 100480404 100480404 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 100480404 100480404 G A SNP TRMT10A ENST00000273962 human ensembl 74_37 -1 known missense c.92 p.P31L 0.004 pirsf_tR_MeTfrase_TRM10 pfam_tR_m1G_MeTrfase,pirsf_tR_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 tier1 - - 67 0 0.00 54 20 27.03 ANK2 0 genome.wustl.edu 37 4 114262846 114262846 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 114262846 114262846 T C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.3896 p.F1299S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 80 0 0.00 57 18 24.00 ACADM 0 genome.wustl.edu 37 1 76198762 76198762 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 76198762 76198762 G A SNP ACADM ENST00000370834 human ensembl 74_37 +1 novel missense c.313 p.A105T 0.003 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADM HGNC ENSG00000117054 tier1 - - 48 0 0.00 27 24 47.06 CLSTN2 0 genome.wustl.edu 37 3 140178488 140178488 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 140178488 140178488 C T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.1099 p.P367S 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 71 0 0.00 47 28 37.33 C14orf39 0 genome.wustl.edu 37 14 60928072 60928072 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 60928072 60928072 C T SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known missense c.1117 p.D373N 1.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 tier1 - - 220 0 0.00 89 67 42.68 HOXA3 0 genome.wustl.edu 37 7 27149780 27149780 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 27149780 27149780 T A SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known missense c.480 p.K160N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 tier1 - - 44 0 0.00 37 12 24.49 ACAD11 0 genome.wustl.edu 37 3 132358400 132358400 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 132358400 132358400 T C SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known missense c.638 p.D213G 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 tier1 - - 58 0 0.00 52 23 30.67 ERI2 0 genome.wustl.edu 37 16 20809073 20809073 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 20809073 20809073 C T SNP ERI2 ENST00000357967 human ensembl 74_37 -1 known silent c.2049 p.L683 0.956 NULL pfam_Exonuclease_RNaseT/D_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI2 HGNC ENSG00000196678 tier1 - - 101 0 0.00 90 42 31.58 PRKCE 0 genome.wustl.edu 37 2 46231735 46231735 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 46231735 46231735 G A SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.1021 p.E341K 1.000 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 tier1 - - 43 0 0.00 34 17 33.33 RXFP2 0 genome.wustl.edu 37 13 32332464 32332464 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 32332464 32332464 T C SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.164 p.L55P 0.984 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_Relaxin_rcpt pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 tier1 - - 63 0 0.00 43 14 24.56 ZNF233 0 genome.wustl.edu 37 19 44777825 44777825 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 44777825 44777825 G A SNP ZNF233 ENST00000391958 human ensembl 74_37 +1 known missense c.1012 p.G338R 1.000 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 ZNF233 HGNC ENSG00000159915 tier1 - - 39 0 0.00 39 9 18.75 EPS8L3 0 genome.wustl.edu 37 1 110306520 110306520 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 110306520 110306520 G A SNP EPS8L3 ENST00000472325 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EPS8L3 HGNC ENSG00000198758 tier1 - - 101 0 0.00 152 30 16.48 SLC17A6 0 genome.wustl.edu 37 11 22384297 22384297 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 22384297 22384297 G A SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.674 p.G225E 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 55 0 0.00 35 15 30.00 ANKRD42 0 genome.wustl.edu 37 11 82909572 82909572 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 82909572 82909572 G A SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known missense c.110 p.G37E 1.000 superfamily_Ankyrin_rpt-contain_dom,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 ANKRD42 HGNC ENSG00000137494 tier1 - - 66 0 0.00 66 30 31.25 DNMT3L 0 genome.wustl.edu 37 21 45674502 45674502 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 45674502 45674502 C T SNP DNMT3L ENST00000270172 human ensembl 74_37 -1 known missense c.691 p.D231N 0.991 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 tier1 - - 36 0 0.00 45 19 29.69 PIK3C2B 0 genome.wustl.edu 37 1 204438496 204438496 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 204438496 204438496 C T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known silent c.435 p.G145 0.001 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 tier1 - - 26 0 0.00 34 14 29.17 HYKK 0 genome.wustl.edu 37 15 78825620 78825620 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 78825620 78825620 G T SNP HYKK ENST00000388988 human ensembl 74_37 +1 known missense c.730 p.A244S 0.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors HYKK HGNC ENSG00000188266 tier1 - - 56 0 0.00 46 4 8.00 PIK3R6 0 genome.wustl.edu 37 17 8726794 8726794 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 8726794 8726794 G A SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known silent c.1536 p.S512 0.032 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 tier1 - - 72 0 0.00 76 27 26.21 XYLT2 0 genome.wustl.edu 37 17 48434521 48434521 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 48434521 48434521 C T SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.1849 p.P617S 0.941 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 tier1 - - 94 0 0.00 90 49 35.25 PCDHB5 0 genome.wustl.edu 37 5 140516693 140516693 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140516693 140516693 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1677 p.F559 0.353 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 tier1 - - 75 0 0.00 108 21 16.15 SLIT3 0 genome.wustl.edu 37 5 168244462 168244462 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 168244462 168244462 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known silent c.636 p.L212 0.879 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 47 0 0.00 39 14 26.42 MASP1 0 genome.wustl.edu 37 3 186954286 186954286 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 186954286 186954286 G A SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known missense c.1373 p.P458L 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 41 0 0.00 30 26 46.43 LAD1 0 genome.wustl.edu 37 1 201356224 201356224 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 201356224 201356224 G A SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known missense c.307 p.L103F 0.978 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 tier1 - - 26 0 0.00 26 11 29.73 LMOD2 0 genome.wustl.edu 37 7 123296237 123296237 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 123296237 123296237 G A SNP LMOD2 ENST00000458573 human ensembl 74_37 +1 known missense c.220 p.E74K 1.000 pfam_Tropomodulin pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC ENSG00000170807 tier1 - - 87 0 0.00 53 31 36.90 SEC61B 0 genome.wustl.edu 37 9 101992687 101992687 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 101992687 101992687 G A SNP SEC61B ENST00000223641 human ensembl 74_37 +1 known missense c.272 p.G91D 1.000 pfam_SecG/Sec61-beta/Sbh1,pirsf_SecG/Sec61-beta/Sbh1 pfam_SecG/Sec61-beta/Sbh1,pirsf_SecG/Sec61-beta/Sbh1 - no_errors SEC61B HGNC ENSG00000106803 tier1 - - 61 0 0.00 60 34 36.17 THEMIS2 0 genome.wustl.edu 37 1 28208830 28208830 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 28208830 28208830 C T SNP THEMIS2 ENST00000373921 human ensembl 74_37 +1 known missense c.995 p.P332L 0.966 NULL NULL - no_errors THEMIS2 HGNC ENSG00000130775 tier1 - - 94 0 0.00 100 62 38.04 TCHHL1 0 genome.wustl.edu 37 1 152058561 152058561 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 152058561 152058561 C T SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.1597 p.E533K 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 38 0 0.00 36 19 34.55 IRF2BP2 0 genome.wustl.edu 37 1 234742890 234742893 + Frame_Shift_Del DEL TCTC TCTC - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 TCTC TCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 234742890 234742893 TCTC - DEL IRF2BP2 ENST00000366609 human ensembl 74_37 -1 novel frame_shift_del c.1757_1754 p.R585fs 1.000:1.000:1.000:1.000 NULL pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP2 HGNC ENSG00000168264 tier1 64 0 0.00 61 23 27.38 PRB4 0 genome.wustl.edu 37 12 11461538 11461538 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 11461538 11461538 C T SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known missense c.379 p.G127R 0.013 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 tier1 - - 74 0 0.00 34 21 38.18 CYP2C18 0 genome.wustl.edu 37 10 96495123 96495123 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 96495123 96495123 G A SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known silent c.1395 p.K465 0.002 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 tier1 - - 62 0 0.00 69 18 20.69 ZNF671 0 genome.wustl.edu 37 19 58232718 58232718 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 58232718 58232718 C A SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known missense c.736 p.G246C 0.000 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 ZNF671 HGNC ENSG00000083814 tier1 - - 35 0 0.00 27 9 25.00 AP2M1 0 genome.wustl.edu 37 3 183897988 183897988 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 183897988 183897988 C T SNP AP2M1 ENST00000292807 human ensembl 74_37 +1 known silent c.372 p.S124 0.050 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 tier1 - - 58 0 0.00 47 22 31.88 MIEF1 0 genome.wustl.edu 37 22 39909964 39909964 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 39909964 39909964 C T SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.1028 p.P343L 0.995 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 tier1 - - 48 0 0.00 40 24 37.50 COMMD9 0 genome.wustl.edu 37 11 36310951 36310951 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 36310951 36310951 C T SNP COMMD9 ENST00000263401 human ensembl 74_37 -1 known silent c.12 p.L4 0.127 NULL pfam_HCaRG - no_errors COMMD9 HGNC ENSG00000110442 tier1 - - 42 0 0.00 31 8 20.00 CLEC16A 0 genome.wustl.edu 37 16 11133720 11133720 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 11133720 11133720 C A SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.1647 p.N549K 0.790 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 tier1 - - 44 0 0.00 57 21 26.92 UNC13C 0 genome.wustl.edu 37 15 54305772 54305772 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 54305772 54305772 T C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.672 p.N224 0.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 57 0 0.00 17 19 52.78 MICAL1 0 genome.wustl.edu 37 6 109769155 109769155 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 109769155 109769155 G T SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.1924 p.Q642K 0.044 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 tier1 - - 47 0 0.00 44 4 8.33 PKDCC 0 genome.wustl.edu 37 2 42281194 42281194 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 42281194 42281194 C T SNP PKDCC ENST00000294964 human ensembl 74_37 +1 known missense c.781 p.R261C 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PKDCC HGNC ENSG00000162878 tier1 rs138808294 - 43 0 0.00 39 19 32.76 TET3 0 genome.wustl.edu 37 2 74315101 74315101 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 74315101 74315101 G A SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.2419 p.E807K 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 97 0 0.00 76 46 37.70 G11 0 genome.wustl.edu 37 19 3094702 3094702 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 3094702 3094702 C T SNP G11 ENST00000078429 human ensembl 74_37 +1 known missense c.53 p.S18F 1.000 pfam_Gprotein_alpha_su,prints_Gprotein_alpha_Q pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha - no_errors G11 HGNC ENSG00000088256 tier1 - - 17 0 0.00 19 20 51.28 REXO1L1 0 genome.wustl.edu 37 8 86575311 86575311 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 86575311 86575311 G A SNP REXO1L1 ENST00000379010 human ensembl 74_37 -1 putative missense c.416 p.P139L 0.005 NULL pfam_Exonuclease_RNaseT/D_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1L1 HGNC ENSG00000205176 tier1 - - 34 0 0.00 38 11 22.00 C2orf71 0 genome.wustl.edu 37 2 29294164 29294164 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 29294164 29294164 G A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known silent c.2964 p.P988 0.011 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 tier1 - - 40 0 0.00 42 17 28.81 IGFBP4 0 genome.wustl.edu 37 17 38610308 38610308 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 38610308 38610308 C T SNP IGFBP4 ENST00000269593 human ensembl 74_37 +1 known silent c.636 p.P212 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-4 - no_errors IGFBP4 HGNC ENSG00000141753 tier1 - - 44 0 0.00 38 15 28.30 RAI1 0 genome.wustl.edu 37 17 17701767 17701767 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 17701767 17701767 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known silent c.5505 p.V1835 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 tier1 - - 34 0 0.00 45 15 25.00 TGFB1 0 genome.wustl.edu 37 19 41854266 41854266 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 41854266 41854266 G A SNP TGFB1 ENST00000221930 human ensembl 74_37 -1 known silent c.450 p.L150 0.751 pfam_TGF-b_N,pirsf_TGF-beta,prints_TGFb1 pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb1,prints_TGF-beta - no_errors TGFB1 HGNC ENSG00000105329 tier1 - - 55 0 0.00 35 13 27.08 FCRL5 0 genome.wustl.edu 37 1 157504547 157504547 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 157504547 157504547 G A SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.1538 p.P513L 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 33 0 0.00 49 14 22.22 SVIL 0 genome.wustl.edu 37 10 29839542 29839542 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 29839542 29839542 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.811 p.P271S 0.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 tier1 - - 78 0 0.00 58 42 42.00 APOBEC3B 0 genome.wustl.edu 37 22 39388229 39388229 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 39388229 39388229 C T SNP APOBEC3B ENST00000402182 human ensembl 74_37 +1 putative silent c.1209 p.P403 0.001 NULL pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 tier1 - - 40 0 0.00 46 14 23.33 VAV2 0 genome.wustl.edu 37 9 136634551 136634551 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 136634551 136634551 G A SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.2422 p.P808S 1.000 superfamily_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,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_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 tier1 - - 56 0 0.00 51 32 38.55 GPR158 0 genome.wustl.edu 37 10 25887658 25887658 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 25887658 25887658 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.3103 p.E1035K 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 rs139042739 - 25 0 0.00 19 9 32.14 DH6 0 genome.wustl.edu 37 2 84831570 84831570 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 84831570 84831570 C T SNP DH6 ENST00000237449 human ensembl 74_37 +1 known silent c.2976 p.T992 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH6 HGNC ENSG00000115423 tier1 - - 80 0 0.00 75 21 21.88 GALNT14 0 genome.wustl.edu 37 2 31133827 31133827 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 31133827 31133827 G A SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known silent c.1599 p.I533 0.038 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 tier1 - - 28 0 0.00 33 7 17.50 PRDM10 0 genome.wustl.edu 37 11 129827661 129827661 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 129827661 129827661 G A SNP PRDM10 ENST00000358825 human ensembl 74_37 -1 known missense c.214 p.H72Y 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 tier1 - - 63 0 0.00 46 36 43.37 TOP1MT 0 genome.wustl.edu 37 8 144407684 144407684 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 144407684 144407684 T C SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.503 p.E168G 1.000 pfam_TopoI_D-bd_euk,superfamily_TopoI_D-bd_euk pfam_TopoI_D-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_D-bd_euk,superfamily_D_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 tier1 rs200673353 GMAF=0.0005 55 0 0.00 32 12 27.27 GDF5 0 genome.wustl.edu 37 20 34025454 34025454 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 34025454 34025454 G A SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known silent c.255 p.G85 0.999 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 tier1 - - 16 0 0.00 39 16 29.09 GPRC5C 0 genome.wustl.edu 37 17 72436505 72436505 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 72436505 72436505 C T SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known missense c.725 p.A242V 0.003 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 tier1 - - 15 0 0.00 21 11 34.38 ADC 0 genome.wustl.edu 37 1 33547798 33547798 + R SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 33547798 33547798 G C SNP ADC ENST00000462920 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ADC HGNC ENSG00000142920 tier1 - - 96 0 0.00 139 27 16.17 ENSG00000272017 0 genome.wustl.edu 37 6 100016559 100016559 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 100016559 100016559 C T SNP ENSG00000272017 ENST00000607332 human ensembl 74_37 +1 known rna NULL NULL 0.051 - - - no_errors RP1-199J3.7 Clone_based_vega_gene ENSG00000272017 tier1 - - 43 0 0.00 41 13 24.07 ARHGEF10L 0 genome.wustl.edu 37 1 18023602 18023602 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 18023602 18023602 C T SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known silent c.3567 p.S1189 0.945 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 tier1 - - 14 0 0.00 12 4 25.00 PTPRZ1 0 genome.wustl.edu 37 7 121650587 121650587 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 121650587 121650587 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.1487 p.P496L 0.064 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 63 0 0.00 59 13 18.06 SP29 0 genome.wustl.edu 37 22 21224625 21224625 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 21224625 21224625 G A SNP SP29 ENST00000215730 human ensembl 74_37 +1 known missense c.238 p.E80K 1.000 smart_T_SRE_dom pfam_T_SRE_dom,pfam_SP-25,smart_T_SRE_dom,pfscan_T_SRE_dom - no_errors SP29 HGNC ENSG00000099940 tier1 - - 39 0 0.00 48 31 39.24 APOF 0 genome.wustl.edu 37 12 56755347 56755347 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 56755347 56755347 G A SNP APOF ENST00000398189 human ensembl 74_37 -1 known nonsense c.643 p.R215* 0.975 NULL NULL - no_errors APOF HGNC ENSG00000175336 tier1 - - 42 0 0.00 52 14 21.21 FLG 0 genome.wustl.edu 37 1 152275690 152275690 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 152275690 152275690 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11672 p.S3891F 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 93 0 0.00 117 40 25.48 NTM 0 genome.wustl.edu 37 11 132016333 132016333 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 132016333 132016333 G A SNP NTM ENST00000539799 human ensembl 74_37 +1 known missense c.325 p.D109N 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 tier1 - - 53 0 0.00 44 32 42.11 KLHL30 0 genome.wustl.edu 37 2 239049494 239049494 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 239049494 239049494 C T SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known silent c.99 p.A33 0.916 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 tier1 - - 38 0 0.00 54 9 14.29 KCNK5 0 genome.wustl.edu 37 6 39159488 39159488 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 39159488 39159488 G A SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known silent c.678 p.F226 0.929 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 tier1 - - 43 0 0.00 70 13 15.66 ZNF572 0 genome.wustl.edu 37 8 125989596 125989596 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 125989596 125989596 G A SNP ZNF572 ENST00000319286 human ensembl 74_37 +1 known silent c.1086 p.E362 0.158 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 tier1 - - 44 0 0.00 38 11 22.45 BRSK1 0 genome.wustl.edu 37 19 55817697 55817697 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 55817697 55817697 C T SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known silent c.2016 p.V672 1.000 NULL 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 tier1 - - 50 0 0.00 32 31 49.21 XIST 0 genome.wustl.edu 37 X 73044726 73044726 + R SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 73044726 73044726 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 41 0 0.00 8 31 79.49 EPHA5 0 genome.wustl.edu 37 4 66230811 66230811 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 66230811 66230811 A T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2160 p.D720E 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 100 0 0.00 64 20 23.81 ZNF730 0 genome.wustl.edu 37 19 23329011 23329011 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 23329011 23329011 A T SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1165 p.I389F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 tier1 - - 60 0 0.00 46 11 19.30 ZNF208 0 genome.wustl.edu 37 19 22156497 22156497 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 22156497 22156497 G A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1339 p.H447Y 0.991 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 ZNF208 HGNC ENSG00000160321 tier1 - - 44 0 0.00 43 11 20.37 RRP12 0 genome.wustl.edu 37 10 99131848 99131848 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 99131848 99131848 G A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known silent c.2325 p.T775 0.994 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 tier1 - - 31 0 0.00 40 6 13.04 PRMT5-AS1 0 genome.wustl.edu 37 14 23396033 23396033 + R SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 23396033 23396033 A T SNP PRMT5-AS1 ENST00000587245 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRMT5-AS1 HGNC ENSG00000237054 tier1 - - 46 0 0.00 11 23 67.65 USP37 0 genome.wustl.edu 37 2 219360517 219360517 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 219360517 219360517 C T SNP USP37 ENST00000258399 human ensembl 74_37 -1 known missense c.1438 p.E480K 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 tier1 - - 92 0 0.00 100 13 11.50 MEFV 0 genome.wustl.edu 37 16 3294266 3294266 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 3294266 3294266 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.1747 p.E583K 0.991 pfscan_B30.2/SPRY pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 tier1 - - 62 0 0.00 46 34 42.50 GMDS 0 genome.wustl.edu 37 6 1960164 1960164 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 1960164 1960164 G A SNP GMDS ENST00000380815 human ensembl 74_37 -1 known missense c.580 p.R194C 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase - no_errors GMDS HGNC ENSG00000112699 tier1 - - 61 0 0.00 35 14 28.57 MSLNL 0 genome.wustl.edu 37 16 830165 830165 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 830165 830165 G A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.836 p.P279L 0.583 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 tier1 - - 120 0 0.00 105 33 23.91 BTBD11 0 genome.wustl.edu 37 12 108045475 108045475 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 108045475 108045475 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known nonsense c.3016 p.Q1006* 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 - - 48 0 0.00 49 7 12.50 ADAM21 0 genome.wustl.edu 37 14 70926145 70926145 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 70926145 70926145 G A SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known silent c.1929 p.G643 0.067 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 tier1 - - 85 0 0.00 59 24 28.92 TNRC18 0 genome.wustl.edu 37 7 5391714 5391714 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 5391714 5391714 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.5206 p.E1736K 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 37 0 0.00 30 13 30.23 LYST 0 genome.wustl.edu 37 1 235972736 235972736 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 235972736 235972736 A G SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.1382 p.V461A 0.064 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 41 0 0.00 51 9 15.00 SLC4A11 0 genome.wustl.edu 37 20 3210075 3210075 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 3210075 3210075 C G SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.1895 p.R632P 1.000 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 tier1 - - 51 0 0.00 58 25 30.12 POPDC3 0 genome.wustl.edu 37 6 105606260 105606260 + R SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 105606260 105606260 A T SNP POPDC3 ENST00000474760 human ensembl 74_37 -1 known rna NULL NULL 0.085 - - - no_errors POPDC3 HGNC ENSG00000132429 tier1 - - 36 0 0.00 24 18 42.86 OR5M1 0 genome.wustl.edu 37 11 56380052 56380052 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 56380052 56380052 G A SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known silent c.927 p.S309 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 tier1 - - 82 0 0.00 63 20 24.10 PPP1R13L 0 genome.wustl.edu 37 19 45899668 45899668 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 45899668 45899668 G A SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.739 p.P247S 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 tier1 - - 92 0 0.00 104 16 13.33 DJC11 0 genome.wustl.edu 37 1 6699997 6699997 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 6699997 6699997 C T SNP DJC11 ENST00000377577 human ensembl 74_37 -1 known silent c.1218 p.L406 0.028 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJC11 HGNC ENSG00000007923 tier1 - - 47 0 0.00 30 11 26.83 SEMA5A 0 genome.wustl.edu 37 5 9063076 9063076 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 9063076 9063076 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.2441 p.P814L 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 - - 62 0 0.00 76 11 12.36 NOTCH3 0 genome.wustl.edu 37 19 15276890 15276890 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 15276890 15276890 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.5375 p.P1792L 1.000 pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 36 0 0.00 30 8 21.05 LAP3 0 genome.wustl.edu 37 4 17600148 17600148 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 17600148 17600148 C T SNP LAP3 ENST00000226299 human ensembl 74_37 +1 known missense c.1147 p.P383S 1.000 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB - no_errors LAP3 HGNC ENSG00000002549 tier1 - - 55 0 0.00 31 25 44.64 IQSEC2 0 genome.wustl.edu 37 X 53268415 53268415 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 53268415 53268415 G A SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.3077 p.P1026L 1.000 smart_Pleckstrin_homology pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 tier1 - - 63 0 0.00 25 68 73.12 ST18 0 genome.wustl.edu 37 8 53076550 53076550 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 53076550 53076550 G A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1396 p.H466Y 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 58 0 0.00 81 24 22.86 CYSLTR2 0 genome.wustl.edu 37 13 49280957 49280957 + Nonsense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 49280957 49280957 G T SNP CYSLTR2 ENST00000282018 human ensembl 74_37 +1 known nonsense c.4 p.E2* 0.000 NULL pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt - no_errors CYSLTR2 HGNC ENSG00000152207 tier1 - - 69 0 0.00 48 11 18.64 PTGIS 0 genome.wustl.edu 37 20 48129663 48129663 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 48129663 48129663 G A SNP PTGIS ENST00000244043 human ensembl 74_37 -1 known missense c.1160 p.P387L 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 tier1 - - 27 0 0.00 23 9 28.12 PDE5A 0 genome.wustl.edu 37 4 120486517 120486517 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 120486517 120486517 G T SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known missense c.952 p.Q318K 1.000 smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 tier1 - - 41 0 0.00 24 12 33.33 TTN 0 genome.wustl.edu 37 2 179637996 179637996 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179637996 179637996 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.7695 p.W2565* 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub 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 - - 66 0 0.00 53 11 17.19 C4orf22 0 genome.wustl.edu 37 4 81866076 81866076 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 81866076 81866076 C T SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known missense c.640 p.L214F 1.000 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 tier1 - - 67 0 0.00 51 9 15.00 HMGXB3 0 genome.wustl.edu 37 5 149389794 149389794 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 149389794 149389794 C T SNP HMGXB3 ENST00000502717 human ensembl 74_37 +1 known missense c.433 p.P145S 0.991 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGXB3 HGNC ENSG00000113716 tier1 - - 27 0 0.00 34 25 42.37 UGT8 0 genome.wustl.edu 37 4 115544185 115544185 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 115544185 115544185 A C SNP UGT8 ENST00000310836 human ensembl 74_37 +1 known missense c.149 p.H50P 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 tier1 - - 50 0 0.00 68 17 19.77 PHLDB2 0 genome.wustl.edu 37 3 111603786 111603786 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 111603786 111603786 G A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.862 p.E288K 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 46 0 0.00 33 14 29.79 FERMT1 0 genome.wustl.edu 37 20 6088260 6088260 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 6088260 6088260 G A SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known silent c.768 p.S256 0.950 pfam_FERM_N,smart_Band_41_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 tier1 - - 77 0 0.00 62 32 34.04 HECTD4 0 genome.wustl.edu 37 12 112631418 112631418 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 112631418 112631418 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.8294 p.S2765F 0.993 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 52 0 0.00 46 10 17.54 LIPK 0 genome.wustl.edu 37 10 90490889 90490889 + Silent SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 90490889 90490889 A C SNP LIPK ENST00000404190 human ensembl 74_37 +1 known silent c.373 p.R125 0.887 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPK HGNC ENSG00000204021 tier1 - - 119 0 0.00 119 23 16.20 CHEK2 0 genome.wustl.edu 37 22 29091738 29091738 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 29091738 29091738 C T SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.1348 p.A450T 0.995 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 tier1 - - 72 0 0.00 49 27 35.06 PRPF38B 0 genome.wustl.edu 37 1 109241092 109241092 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 109241092 109241092 C T SNP PRPF38B ENST00000485810 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRPF38B HGNC ENSG00000134186 tier1 - - 9 0 0.00 6 6 50.00 SULT4A1 0 genome.wustl.edu 37 22 44237720 44237720 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 44237720 44237720 C T SNP SULT4A1 ENST00000330884 human ensembl 74_37 -1 known missense c.262 p.V88I 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT4A1 HGNC ENSG00000130540 tier1 - - 65 0 0.00 81 44 35.20 TIMM44 0 genome.wustl.edu 37 19 8006055 8006055 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 8006055 8006055 G A SNP TIMM44 ENST00000270538 human ensembl 74_37 -1 known missense c.73 p.L25F 0.518 pirsf_Tim44 pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 tier1 - - 111 0 0.00 103 38 26.95 OR4C3 0 genome.wustl.edu 37 11 48346767 48346767 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 48346767 48346767 C T SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.275 p.S92F 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 tier1 - - 88 0 0.00 96 12 11.11 OR2C3 0 genome.wustl.edu 37 1 247695264 247695264 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 247695264 247695264 G A SNP OR2C3 ENST00000366487 human ensembl 74_37 -1 known missense c.550 p.L184F 0.078 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 tier1 - - 35 0 0.00 35 7 16.67 PABPC4L 0 genome.wustl.edu 37 4 135122209 135122209 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 135122209 135122209 G A SNP PABPC4L ENST00000529122 human ensembl 74_37 -1 known missense c.140 p.S47F 0.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4L HGNC ENSG00000254535 tier1 - - 51 0 0.00 48 17 26.15 KIAA1211 0 genome.wustl.edu 37 4 57182186 57182186 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 57182186 57182186 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.2518 p.E840K 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 56 0 0.00 57 25 30.49 TBC1D20 0 genome.wustl.edu 37 20 418378 418378 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 418378 418378 C T SNP TBC1D20 ENST00000461188 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D20 HGNC ENSG00000125875 tier1 - - 78 0 0.00 80 25 23.81 PADI1 0 genome.wustl.edu 37 1 17563878 17563878 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 17563878 17563878 G A SNP PADI1 ENST00000375471 human ensembl 74_37 +1 known silent c.1383 p.V461 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 tier1 - - 55 0 0.00 36 24 40.00 CHI3L1 0 genome.wustl.edu 37 1 203148986 203148986 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 203148986 203148986 C T SNP CHI3L1 ENST00000255409 human ensembl 74_37 -1 known missense c.914 p.G305E 0.998 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC ENSG00000133048 tier1 - - 16 0 0.00 16 18 52.94 OR12D2 0 genome.wustl.edu 37 6 29364937 29364937 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 29364937 29364937 C T SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known missense c.461 p.A154V 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 tier1 - - 29 0 0.00 21 4 16.00 SPEN 0 genome.wustl.edu 37 1 16199525 16199525 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 16199525 16199525 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.298 p.R100C 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 - - 53 0 0.00 49 24 32.88 BRD2 0 genome.wustl.edu 37 6 32939437 32939437 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 32939437 32939437 C T SNP BRD2 ENST00000496118 human ensembl 74_37 +1 putative missense c.173 p.P58L 0.955 NULL NULL - no_errors BRD2 HGNC ENSG00000204256 tier1 - - 45 0 0.00 27 21 43.75 AHK2 0 genome.wustl.edu 37 14 105409324 105409324 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 105409324 105409324 G A SNP AHK2 ENST00000333244 human ensembl 74_37 -1 known missense c.12464 p.S4155F 0.005 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK2 HGNC ENSG00000185567 tier1 - - 128 1 0.77 55 65 54.17 CDH4 0 genome.wustl.edu 37 20 60427860 60427860 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 60427860 60427860 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.783 p.I261 0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 34 0 0.00 35 17 32.69 ATP1B2 0 genome.wustl.edu 37 17 7556703 7556703 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 7556703 7556703 C T SNP ATP1B2 ENST00000250111 human ensembl 74_37 +1 known missense c.124 p.L42F 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B2 HGNC ENSG00000129244 tier1 - - 44 0 0.00 37 10 21.28 LAP3 0 genome.wustl.edu 37 4 17600149 17600149 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 17600149 17600149 C T SNP LAP3 ENST00000226299 human ensembl 74_37 +1 known missense c.1148 p.P383L 1.000 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB - no_errors LAP3 HGNC ENSG00000002549 tier1 - - 54 0 0.00 31 24 43.64 SUPT20H 0 genome.wustl.edu 37 13 37596390 37596390 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 37596390 37596390 A C SNP SUPT20H ENST00000475892 human ensembl 74_37 -1 novel missense c.1656 p.D552E 1.000 NULL pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 tier1 - - 41 0 0.00 24 6 20.00 CLCN4 0 genome.wustl.edu 37 X 10182005 10182005 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 10182005 10182005 G A SNP CLCN4 ENST00000380833 human ensembl 74_37 +1 known missense c.1861 p.D621N 1.000 pfam_CBS_dom,smart_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 tier1 - - 58 0 0.00 29 56 65.88 ZNF253 0 genome.wustl.edu 37 19 20002339 20002339 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 20002339 20002339 C T SNP ZNF253 ENST00000589717 human ensembl 74_37 +1 known nonsense c.283 p.Q95* 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 ZNF253 HGNC ENSG00000256771 tier1 - - 58 0 0.00 29 14 32.56 OR8S1 0 genome.wustl.edu 37 12 48919765 48919765 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 48919765 48919765 G A SNP OR8S1 ENST00000310194 human ensembl 74_37 +1 known silent c.351 p.G117 0.188 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 tier1 - - 42 0 0.00 18 15 45.45 LRRC49 0 genome.wustl.edu 37 15 71329564 71329564 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 71329564 71329564 G T SNP LRRC49 ENST00000260382 human ensembl 74_37 +1 known missense c.1750 p.G584C 0.991 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 tier1 - - 61 0 0.00 46 4 8.00 MUC17 0 genome.wustl.edu 37 7 100677807 100677807 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 100677807 100677807 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.3110 p.P1037L 0.058 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 86 0 0.00 86 38 30.65 NCAM2 0 genome.wustl.edu 37 21 22881316 22881316 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 22881316 22881316 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2222 p.G741E 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 58 0 0.00 70 15 17.65 RGS10 0 genome.wustl.edu 37 10 121275051 121275051 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 121275051 121275051 G A SNP RGS10 ENST00000369103 human ensembl 74_37 -1 known silent c.369 p.H123 0.998 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS10 HGNC ENSG00000148908 tier1 - - 83 0 0.00 52 42 44.68 OR10W1 0 genome.wustl.edu 37 11 58034517 58034517 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 58034517 58034517 C T SNP OR10W1 ENST00000395079 human ensembl 74_37 -1 known missense c.814 p.G272R 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10W1 HGNC ENSG00000172772 tier1 - - 51 0 0.00 45 19 28.79 MCM3AP 0 genome.wustl.edu 37 21 47662716 47662716 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47662716 47662716 C T SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.5426 p.R1809H 0.995 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 tier1 - - 33 0 0.00 57 23 28.75 SCAP 0 genome.wustl.edu 37 3 47461104 47461104 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 47461104 47461104 G A SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.1654 p.P552S 1.000 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 tier1 - - 53 0 0.00 50 24 32.43 ANKRD17 0 genome.wustl.edu 37 4 73956416 73956416 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 73956416 73956416 G A SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.6929 p.P2310L 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 tier1 - - 68 0 0.00 41 27 39.71 TRIP12 0 genome.wustl.edu 37 2 230723648 230723648 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 230723648 230723648 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known silent c.741 p.R247 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 tier1 - - 35 0 0.00 35 25 41.67 YIF1B 0 genome.wustl.edu 37 19 38796027 38796027 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38796027 38796027 G A SNP YIF1B ENST00000339413 human ensembl 74_37 -1 known missense c.910 p.L304F 1.000 pfam_Hrf1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1B HGNC ENSG00000167645 tier1 - - 39 0 0.00 28 9 24.32 DSCAML1 0 genome.wustl.edu 37 11 117395666 117395666 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 117395666 117395666 C G SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.971 p.R324P 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 47 0 0.00 64 14 17.95 C11orf49 0 genome.wustl.edu 37 11 46958262 46958262 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 46958262 46958262 C T SNP C11orf49 ENST00000533124 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors C11orf49 HGNC ENSG00000149179 tier1 - - 75 0 0.00 80 47 37.01 CNTN3 0 genome.wustl.edu 37 3 74414788 74414788 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 74414788 74414788 C T SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1012 p.E338K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 57 0 0.00 65 31 32.29 FASTKD1 0 genome.wustl.edu 37 2 170403114 170403114 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 170403114 170403114 T C SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known missense c.1315 p.I439V 0.586 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 tier1 - - 61 0 0.00 43 36 45.57 ACTN4 0 genome.wustl.edu 37 19 39214831 39214831 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 39214831 39214831 C T SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.1727 p.T576I 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 83 0 0.00 57 36 38.71 CEP85L 0 genome.wustl.edu 37 6 118786633 118786633 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 118786633 118786633 C T SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known missense c.2362 p.E788K 1.000 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 tier1 - - 61 0 0.00 56 7 11.11 RPL28 0 genome.wustl.edu 37 19 55898033 55898033 + Silent SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 55898033 55898033 T G SNP RPL28 ENST00000458349 human ensembl 74_37 +1 known silent c.177 p.G59 0.318 NULL NULL - no_errors RPL28 HGNC ENSG00000108107 tier1 - - 23 0 0.00 11 5 31.25 OR9I1 0 genome.wustl.edu 37 11 57886531 57886531 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 57886531 57886531 G A SNP OR9I1 ENST00000302610 human ensembl 74_37 -1 known missense c.386 p.P129L 1.000 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR9I1 HGNC ENSG00000172377 tier1 - - 47 0 0.00 47 11 18.97 KDM6B 0 genome.wustl.edu 37 17 7750915 7750915 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 7750915 7750915 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.1309 p.R437C 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 tier1 - - 15 0 0.00 25 11 30.56 RYR1 0 genome.wustl.edu 37 19 39013745 39013745 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 39013745 39013745 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.10337 p.S3446F 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 22 0 0.00 10 4 28.57 ARHGAP39 0 genome.wustl.edu 37 8 145773498 145773498 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 145773498 145773498 G A SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known silent c.972 p.I324 1.000 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 tier1 - - 8 0 0.00 8 6 42.86 TXNRD1 0 genome.wustl.edu 37 12 104714904 104714904 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 104714904 104714904 A T SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.1025 p.K342M 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/D-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 45 0 0.00 30 11 25.58 TRPA1 0 genome.wustl.edu 37 8 72948686 72948686 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 72948686 72948686 T C SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2392 p.N798D 0.949 pfam_Ion_trans_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 76 0 0.00 76 21 21.65 MAPK8IP3 0 genome.wustl.edu 37 16 1816257 1816257 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 1816257 1816257 C T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.2663 p.P888L 0.928 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 tier1 - - 31 0 0.00 38 23 37.70 SLC7A8 0 genome.wustl.edu 37 14 23652009 23652009 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 23652009 23652009 C T SNP SLC7A8 ENST00000316902 human ensembl 74_37 -1 known missense c.115 p.E39K 1.000 pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A8 HGNC ENSG00000092068 tier1 - - 67 0 0.00 31 24 43.64 LCTL 0 genome.wustl.edu 37 15 66855888 66855888 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 66855888 66855888 G A SNP LCTL ENST00000341509 human ensembl 74_37 -1 known missense c.446 p.P149L 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 tier1 - - 37 0 0.00 12 20 62.50 FGFR1 0 genome.wustl.edu 37 8 38271205 38271205 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 38271205 38271205 C T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.2503 p.E835K 1.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 tier1 - - 30 0 0.00 24 25 51.02 KRT14 0 genome.wustl.edu 37 17 39739693 39739693 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 39739693 39739693 C T SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known silent c.1068 p.E356 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 tier1 - - 46 0 0.00 60 21 25.93 ITGAM 0 genome.wustl.edu 37 16 31277420 31277420 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 31277420 31277420 G A SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.379 p.G127R 0.899 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 tier1 - - 74 0 0.00 67 36 34.95 ROBO4 0 genome.wustl.edu 37 11 124756975 124756975 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 124756975 124756975 G A SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known missense c.2333 p.S778F 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 tier1 - - 35 0 0.00 47 12 20.34 C20orf187 0 genome.wustl.edu 37 20 11008865 11008865 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 11008865 11008865 C T SNP C20orf187 ENST00000378252 human ensembl 74_37 +1 known nonsense c.70 p.Q24* 0.000 NULL NULL - no_errors C20orf187 HGNC ENSG00000125899 tier1 - - 50 0 0.00 57 17 22.97 CLIP2 0 genome.wustl.edu 37 7 73770747 73770747 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 73770747 73770747 C T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known nonsense c.811 p.Q271* 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SRE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 tier1 - - 72 0 0.00 97 21 17.80 TRPC7 0 genome.wustl.edu 37 5 135692516 135692516 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 135692516 135692516 C T SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.560 p.G187D 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 tier1 - - 15 0 0.00 11 12 52.17 CAC1A 0 genome.wustl.edu 37 19 13368324 13368324 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 13368324 13368324 C T SNP CAC1A ENST00000360228 human ensembl 74_37 -1 known missense c.4430 p.G1477D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CAC1A HGNC ENSG00000141837 tier1 - - 47 0 0.00 40 11 21.15 ARPP21 0 genome.wustl.edu 37 3 35729275 35729275 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 35729275 35729275 G A SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known silent c.306 p.E102 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 139 0 0.00 114 68 36.96 VSTM2A 0 genome.wustl.edu 37 7 54636898 54636898 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 54636898 54636898 C A SNP VSTM2A ENST00000404951 human ensembl 74_37 +1 putative missense c.916 p.P306T 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 tier1 - - 23 0 0.00 30 17 36.17 ADCY4 0 genome.wustl.edu 37 14 24795084 24795084 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 24795084 24795084 C T SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known silent c.1665 p.K555 0.975 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 tier1 - - 24 0 0.00 4 15 78.95 DH10 0 genome.wustl.edu 37 12 124325906 124325906 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 124325906 124325906 G A SNP DH10 ENST00000409039 human ensembl 74_37 +1 known missense c.4820 p.G1607D 0.931 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DH10 HGNC ENSG00000197653 tier1 - - 41 0 0.00 34 10 22.73 HELQ 0 genome.wustl.edu 37 4 84339341 84339341 + Frame_Shift_Del DEL C C - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 84339341 84339341 C - DEL HELQ ENST00000295488 human ensembl 74_37 -1 known frame_shift_del c.2968 p.V990fs 1.000 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_D_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 tier1 101 0 0.00 87 34 28.10 MYT1 0 genome.wustl.edu 37 20 62851279 62851279 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 62851279 62851279 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.2266 p.D756N 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 tier1 - - 72 0 0.00 106 26 19.70 FBXO42 0 genome.wustl.edu 37 1 16580201 16580201 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 16580201 16580201 G A SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known missense c.793 p.L265F 1.000 pfam_Kelch_2,pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 tier1 - - 39 0 0.00 52 24 31.17 ILF3 0 genome.wustl.edu 37 19 10798042 10798042 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 10798042 10798042 G A SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.2092 p.G698R 1.000 NULL pfam_DZF,pfam_dsR-bd_dom,smart_DZF,smart_dsR-bd_dom,pfscan_dsR-bd_dom - no_errors ILF3 HGNC ENSG00000129351 tier1 - - 56 0 0.00 41 16 28.07 KLHL30 0 genome.wustl.edu 37 2 239049493 239049493 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 239049493 239049493 C T SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known missense c.98 p.A33V 0.997 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 tier1 - - 38 0 0.00 54 10 15.62 LRRC7 0 genome.wustl.edu 37 1 70225939 70225939 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 70225939 70225939 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known nonsense c.52 p.R18* 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 tier1 - - 51 0 0.00 44 21 32.31 PSA 0 genome.wustl.edu 37 19 50865243 50865243 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 50865243 50865243 A T SNP PSA ENST00000253719 human ensembl 74_37 -1 known missense c.332 p.F111Y 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PSA HGNC ENSG00000131400 tier1 - - 76 0 0.00 91 18 16.51 CD207 0 genome.wustl.edu 37 2 71062847 71062847 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 71062847 71062847 G A SNP CD207 ENST00000410009 human ensembl 74_37 -1 known silent c.60 p.S20 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD207 HGNC ENSG00000116031 tier1 - - 40 0 0.00 37 11 22.92 ENSG00000272849 0 genome.wustl.edu 37 12 122235555 122235555 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 122235555 122235555 G A SNP ENSG00000272849 ENST00000609067 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-347I19.8 Clone_based_vega_gene ENSG00000272849 tier1 - - 27 0 0.00 24 17 41.46 LOC285556 0 genome.wustl.edu 37 4 100572249 100572249 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 100572249 100572249 G A SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.3557 p.S1186F 0.774 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 83 0 0.00 99 14 12.39 DCC 0 genome.wustl.edu 37 18 51053024 51053024 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 51053024 51053024 C T SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.4149 p.S1383 0.980 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 65 0 0.00 25 25 50.00 PSG1 0 genome.wustl.edu 37 19 43376179 43376179 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 43376179 43376179 G A SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.449 p.S150F 0.000 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 tier1 - - 55 0 0.00 27 28 50.91 RP1L1 0 genome.wustl.edu 37 8 10468038 10468038 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 10468038 10468038 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.3570 p.T1190 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 46 0 0.00 26 23 46.94 COL11A2 0 genome.wustl.edu 37 6 33157101 33157101 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 33157101 33157101 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known silent c.228 p.F76 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 56 0 0.00 57 20 25.97 SLC44A4 0 genome.wustl.edu 37 6 31842373 31842373 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 31842373 31842373 G A SNP SLC44A4 ENST00000465707 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors SLC44A4 HGNC ENSG00000204385 tier1 - - 24 0 0.00 22 9 28.12 GGA3 0 genome.wustl.edu 37 17 73234804 73234804 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 73234804 73234804 G A SNP GGA3 ENST00000245541 human ensembl 74_37 -1 known missense c.1990 p.L664F 1.000 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA3 HGNC ENSG00000125447 tier1 - - 35 0 0.00 37 18 32.73 SENP5 0 genome.wustl.edu 37 3 196612776 196612776 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 196612776 196612776 C T SNP SENP5 ENST00000323460 human ensembl 74_37 +1 known missense c.724 p.R242W 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC ENSG00000119231 tier1 - - 41 0 0.00 41 16 28.07 FLNC 0 genome.wustl.edu 37 7 128493887 128493887 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 128493887 128493887 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.6480 p.I2160 1.000 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 46 0 0.00 56 28 33.33 SCARF1 0 genome.wustl.edu 37 17 1538895 1538895 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 1538895 1538895 G A SNP SCARF1 ENST00000571272 human ensembl 74_37 -1 known missense c.1613 p.P538L 0.000 NULL pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 tier1 - - 25 0 0.00 15 8 34.78 ZNF831 0 genome.wustl.edu 37 20 57828127 57828127 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 57828127 57828127 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.4122 p.T1374 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 35 0 0.00 49 18 26.47 PAX1 0 genome.wustl.edu 37 20 21695441 21695441 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 21695441 21695441 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.1605 p.*535 0.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 27 0 0.00 31 6 16.22 EPM2AIP1 0 genome.wustl.edu 37 3 37033458 37033458 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 37033458 37033458 G A SNP EPM2AIP1 ENST00000322716 human ensembl 74_37 -1 known missense c.1111 p.H371Y 0.997 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 tier1 - - 32 0 0.00 32 11 25.58 CHD4 0 genome.wustl.edu 37 12 6692433 6692433 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 6692433 6692433 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known nonsense c.3991 p.R1331* 1.000 pfam_DUF1087 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 tier1 - - 49 0 0.00 22 27 54.00 UHRF1BP1 0 genome.wustl.edu 37 6 34827037 34827037 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 34827037 34827037 C T SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known silent c.2904 p.G968 0.998 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 tier1 - - 35 0 0.00 42 8 15.69 HDLBP 0 genome.wustl.edu 37 2 242168891 242168891 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 242168891 242168891 C T SNP HDLBP ENST00000484412 human ensembl 74_37 -1 putative rna NULL NULL 0.999 - - - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 40 0 0.00 21 17 44.74 ITPK1-AS1 0 genome.wustl.edu 37 14 93537235 93537235 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 93537235 93537235 G A SNP ITPK1-AS1 ENST00000553639 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ITPK1-AS1 HGNC ENSG00000258730 tier1 - - 33 0 0.00 19 10 34.48 IGSF10 0 genome.wustl.edu 37 3 151163068 151163069 + Frame_Shift_Ins INS - - G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 151163068 151163069 - G INS IGSF10 ENST00000282466 human ensembl 74_37 -1 known frame_shift_ins c.4701_4700 p.S1568fs 0.000:0.003 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 57 0 0.00 53 14 20.90 LOC728554 0 genome.wustl.edu 37 5 177310736 177310736 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 177310736 177310736 C T SNP LOC728554 ENST00000506672 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-423H2.1 Clone_based_vega_gene ENSG00000170089 tier1 - - 45 0 0.00 54 14 20.59 ENSG00000204038 0 genome.wustl.edu 37 10 82012940 82012940 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 82012940 82012940 C T SNP ENSG00000204038 ENST00000356374 human ensembl 74_37 +1 known missense c.458 p.S153F 0.003 NULL NULL - no_errors AL359195.1 Clone_based_ensembl_gene ENSG00000204038 tier1 - - 23 0 0.00 13 22 62.86 CSPG5 0 genome.wustl.edu 37 3 47618964 47618964 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 47618964 47618964 G A SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known silent c.552 p.P184 0.385 pfam_Chon_Sulph_att pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 tier1 - - 83 0 0.00 82 48 36.92 ASPH 0 genome.wustl.edu 37 8 62430152 62430152 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 62430152 62430152 G A SNP ASPH ENST00000379454 human ensembl 74_37 -1 known silent c.2061 p.L687 0.995 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 tier1 - - 60 0 0.00 49 16 24.24 MAGEA6 0 genome.wustl.edu 37 X 151869463 151869463 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 151869463 151869463 G A SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known silent c.153 p.G51 0.009 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 tier1 - - 14 0 0.00 5 14 73.68 EGF 0 genome.wustl.edu 37 4 110880580 110880580 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 110880580 110880580 G A SNP EGF ENST00000265171 human ensembl 74_37 +1 known silent c.1053 p.R351 0.068 pirsf_Pro-epidermal_GF,smart_EG-like_dom pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 tier1 - - 71 0 0.00 50 26 34.21 MEX3D 0 genome.wustl.edu 37 19 1555363 1555363 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1555363 1555363 G A SNP MEX3D ENST00000388824 human ensembl 74_37 -1 known silent c.1968 p.P656 0.003 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 tier1 - - 44 0 0.00 44 12 21.43 MGLL 0 genome.wustl.edu 37 3 127434383 127434383 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 127434383 127434383 C T SNP MGLL ENST00000479967 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MGLL HGNC ENSG00000074416 tier1 - - 22 0 0.00 12 8 40.00 ERCC6L2 0 genome.wustl.edu 37 9 98718251 98718251 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 98718251 98718251 G A SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.1369 p.G457R 1.000 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 tier1 - - 126 0 0.00 105 17 13.82 SIGLEC1 0 genome.wustl.edu 37 20 3677343 3677343 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 3677343 3677343 G A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.2573 p.S858F 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 tier1 - - 79 0 0.00 68 43 38.74 AHK 0 genome.wustl.edu 37 11 62287632 62287632 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 62287632 62287632 G A SNP AHK ENST00000378024 human ensembl 74_37 -1 known missense c.14257 p.P4753S 0.950 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 - - 153 0 0.00 120 61 33.70 PEG3 0 genome.wustl.edu 37 19 57326065 57326065 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 57326065 57326065 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3745 p.E1249K 0.348 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 38 0 0.00 20 8 28.57 TAGAP 0 genome.wustl.edu 37 6 159457214 159457214 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 159457214 159457214 G A SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known missense c.1841 p.T614I 0.778 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 tier1 - - 16 0 0.00 11 7 38.89 FAM169A 0 genome.wustl.edu 37 5 74137459 74137459 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 74137459 74137459 C T SNP FAM169A ENST00000389156 human ensembl 74_37 -1 known missense c.43 p.E15K 1.000 NULL NULL - no_errors FAM169A HGNC ENSG00000198780 tier1 - - 74 0 0.00 50 39 43.33 SIGIRR 0 genome.wustl.edu 37 11 405992 405992 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 405992 405992 C T SNP SIGIRR ENST00000382520 human ensembl 74_37 -1 known missense c.1426 p.E476K 0.081 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors SIGIRR HGNC ENSG00000185187 tier1 - - 71 0 0.00 56 24 30.00 HAP1 0 genome.wustl.edu 37 17 39888487 39888487 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 39888487 39888487 C T SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known missense c.709 p.E237K 1.000 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 tier1 - - 73 0 0.00 69 33 32.35 CCDC57 0 genome.wustl.edu 37 17 80115649 80115649 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 80115649 80115649 G A SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known missense c.2216 p.S739L 0.000 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 tier1 - - 75 0 0.00 88 47 34.81 CHD4 0 genome.wustl.edu 37 12 6692434 6692434 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 6692434 6692434 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known silent c.3990 p.A1330 1.000 pfam_DUF1087 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 tier1 - - 49 0 0.00 23 26 53.06 TXNRD2 0 genome.wustl.edu 37 22 19907072 19907072 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 19907072 19907072 G A SNP TXNRD2 ENST00000535882 human ensembl 74_37 -1 known missense c.220 p.P74S 0.998 pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_FAD_bind_dom,pfam_GIDA-rel,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/D-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 tier1 - - 80 0 0.00 80 41 33.88 HIST1H3A 0 genome.wustl.edu 37 6 26020939 26020939 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 26020939 26020939 G A SNP HIST1H3A ENST00000357647 human ensembl 74_37 +1 known silent c.222 p.E74 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3A HGNC ENSG00000198366 tier1 - - 61 0 0.00 48 12 19.67 ATG13 0 genome.wustl.edu 37 11 46689389 46689389 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 46689389 46689389 C T SNP ATG13 ENST00000312040 human ensembl 74_37 +1 known silent c.1104 p.T368 0.992 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 tier1 - - 80 0 0.00 62 41 39.81 SEC63 0 genome.wustl.edu 37 6 108222575 108222575 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 108222575 108222575 C T SNP SEC63 ENST00000369002 human ensembl 74_37 -1 known silent c.1356 p.Q452 1.000 pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 tier1 - - 65 0 0.00 49 10 16.95 MYBPC3 0 genome.wustl.edu 37 11 47360232 47360232 + Splice_Site SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 47360232 47360232 T C SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known splice_site c.2149-2 e22-2 0.994 - - - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 28 0 0.00 21 13 38.24 CLCN3 0 genome.wustl.edu 37 4 170628344 170628344 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 170628344 170628344 T C SNP CLCN3 ENST00000347613 human ensembl 74_37 +1 known silent c.2076 p.F692 1.000 pfam_CBS_dom,smart_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 tier1 - - 71 0 0.00 72 42 36.84 IL16 0 genome.wustl.edu 37 15 81592359 81592359 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 81592359 81592359 C T SNP IL16 ENST00000302987 human ensembl 74_37 +1 known nonsense c.2692 p.Q898* 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 tier1 - - 33 0 0.00 12 20 62.50 COL4A1 0 genome.wustl.edu 37 13 110847415 110847415 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 110847415 110847415 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.1336 p.G446R 0.972 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 tier1 - - 33 0 0.00 27 12 30.77 FSIP2 0 genome.wustl.edu 37 2 186673773 186673773 + Silent SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 186673773 186673773 C A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.20007 p.S6669 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 51 0 0.00 31 11 26.19 NEU3 0 genome.wustl.edu 37 11 74716821 74716821 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 74716821 74716821 C T SNP NEU3 ENST00000294064 human ensembl 74_37 +1 known nonsense c.670 p.Q224* 0.000 superfamily_Sialidases superfamily_Sialidases - no_errors NEU3 HGNC ENSG00000162139 tier1 - - 37 0 0.00 41 19 31.67 PLEC 0 genome.wustl.edu 37 8 144996492 144996492 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 144996492 144996492 C A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.7908 p.K2636N 0.998 NULL 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 - - 18 0 0.00 17 10 37.04 ISCU 0 genome.wustl.edu 37 12 108958135 108958135 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 108958135 108958135 G A SNP ISCU ENST00000311893 human ensembl 74_37 +1 known silent c.195 p.G65 0.586 pfam_NIF_FeS_clus_asmbl_NifU_N,tigrfam_ISC_FeS_clus_asmbl_IscU pfam_NIF_FeS_clus_asmbl_NifU_N,tigrfam_ISC_FeS_clus_asmbl_IscU - no_errors ISCU HGNC ENSG00000136003 tier1 - - 88 0 0.00 44 42 48.84 B4GALNT2 0 genome.wustl.edu 37 17 47241525 47241525 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 47241525 47241525 G A SNP B4GALNT2 ENST00000300404 human ensembl 74_37 +1 known missense c.1022 p.R341Q 0.000 pfam_Glyco_trans_2,pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 tier1 - - 69 0 0.00 77 42 35.29 RARS 0 genome.wustl.edu 37 5 167929064 167929064 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 167929064 167929064 C T SNP RARS ENST00000231572 human ensembl 74_37 +1 known silent c.1011 p.F337 1.000 pfam_Arg-tR-synth_Ia_core,tigrfam_Arg-tR-ligase_Ia pfam_Arg-tR-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tR-synth_N,superfamily_tRsynth_1a_anticodon-bd,superfamily_Arg-tR-synth_N,smart_DALR_anticod-bd,prints_Arg-tR-synth_Ia_core,tigrfam_Arg-tR-ligase_Ia - no_errors RARS HGNC ENSG00000113643 tier1 - - 74 0 0.00 49 26 34.67 TP73 0 genome.wustl.edu 37 1 3598953 3598953 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 3598953 3598953 C T SNP TP73 ENST00000378295 human ensembl 74_37 +1 known silent c.24 p.S8 0.073 NULL pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_D-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 tier1 - - 113 0 0.00 85 26 23.21 C5orf51 0 genome.wustl.edu 37 5 41911190 41911190 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 41911190 41911190 C T SNP C5orf51 ENST00000381647 human ensembl 74_37 +1 known missense c.395 p.S132F 1.000 NULL NULL - no_errors C5orf51 HGNC ENSG00000205765 tier1 rs201204178 - 80 0 0.00 48 34 41.46 OR1L4 0 genome.wustl.edu 37 9 125487078 125487078 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 125487078 125487078 G A SNP OR1L4 ENST00000259466 human ensembl 74_37 +1 known missense c.810 p.M270I 0.975 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 tier1 - - 93 0 0.00 68 29 29.90 USH1G 0 genome.wustl.edu 37 17 72915947 72915947 + Silent SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 72915947 72915947 T A SNP USH1G ENST00000319642 human ensembl 74_37 -1 known silent c.984 p.G328 0.989 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 tier1 - - 72 0 0.00 71 28 28.28 SBNO1 0 genome.wustl.edu 37 12 123813425 123813425 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 123813425 123813425 A C SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known missense c.1152 p.I384M 1.000 pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 tier1 - - 77 0 0.00 54 21 28.00 COBL 0 genome.wustl.edu 37 7 51150796 51150796 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 51150796 51150796 C T SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.1301 p.G434E 0.971 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 tier1 - - 86 0 0.00 129 36 21.82 HHIP 0 genome.wustl.edu 37 4 145633172 145633172 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 145633172 145633172 A C SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.1372 p.K458Q 1.000 NULL pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 tier1 - - 75 0 0.00 46 27 36.99 PRMT8 0 genome.wustl.edu 37 12 3702286 3702286 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 3702286 3702286 G A SNP PRMT8 ENST00000382622 human ensembl 74_37 +1 known missense c.1123 p.D375N 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tR_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 tier1 - - 54 0 0.00 41 17 29.31 BEST3 0 genome.wustl.edu 37 12 70048991 70048991 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 70048991 70048991 G A SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.1703 p.S568L 0.004 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 tier1 - - 39 0 0.00 34 21 38.18 CD40LG 0 genome.wustl.edu 37 X 135730454 135730454 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 135730454 135730454 G A SNP CD40LG ENST00000370629 human ensembl 74_37 +1 known missense c.47 p.G16E 0.023 pirsf_TNF_ligand_5 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 tier1 - - 36 0 0.00 20 42 67.74 TMEM210 0 genome.wustl.edu 37 9 140065559 140065559 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 140065559 140065559 C T SNP TMEM210 ENST00000413619 human ensembl 74_37 -1 known silent c.312 p.V104 0.979 NULL NULL - no_errors TMEM210 HGNC ENSG00000185863 tier1 - - 84 0 0.00 88 31 25.83 VPS13B 0 genome.wustl.edu 37 8 100286549 100286549 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 100286549 100286549 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.2639 p.A880V 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 131 0 0.00 90 55 37.93 TMEM184B 0 genome.wustl.edu 37 22 38617206 38617206 + R SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 38617206 38617206 G C SNP TMEM184B ENST00000504337 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TMEM184B HGNC ENSG00000198792 tier1 - - 45 0 0.00 45 24 34.29 OR2M5 0 genome.wustl.edu 37 1 248309349 248309349 + Silent SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 248309349 248309349 A C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known silent c.900 p.A300 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 tier1 - - 64 0 0.00 49 40 44.94 ADCK5 0 genome.wustl.edu 37 8 145616617 145616617 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 145616617 145616617 C T SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known silent c.741 p.L247 0.990 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 tier1 - - 82 0 0.00 111 46 29.11 DCTN1 0 genome.wustl.edu 37 2 74596233 74596233 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 74596233 74596233 G A SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.1693 p.H565Y 1.000 pfam_Dynactin,superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 tier1 - - 52 0 0.00 49 26 34.67 YY2 0 genome.wustl.edu 37 X 21875572 21875572 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 21875572 21875572 C T SNP YY2 ENST00000429584 human ensembl 74_37 +1 known missense c.970 p.L324F 0.999 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 tier1 - - 19 0 0.00 13 20 60.61 COL11A2 0 genome.wustl.edu 37 6 33157204 33157204 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 33157204 33157204 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.125 p.S42F 0.361 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 50 0 0.00 36 12 25.00 LRRIQ1 0 genome.wustl.edu 37 12 85492693 85492693 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 85492693 85492693 G A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.3130 p.D1044N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 76 0 0.00 43 26 37.68 ALS2 0 genome.wustl.edu 37 2 202630515 202630515 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 202630515 202630515 G A SNP ALS2 ENST00000496244 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ALS2 HGNC ENSG00000003393 tier1 - - 85 0 0.00 94 18 16.07 UGT2B17 0 genome.wustl.edu 37 4 69431360 69431360 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 69431360 69431360 G A SNP UGT2B17 ENST00000317746 human ensembl 74_37 -1 known missense c.803 p.P268L 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 tier1 - - 91 0 0.00 89 46 34.07 PHF15 0 genome.wustl.edu 37 5 133914743 133914743 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 133914743 133914743 G A SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known silent c.2109 p.K703 0.995 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 tier1 - - 44 0 0.00 37 21 36.21 RTBDN 0 genome.wustl.edu 37 19 12936605 12936605 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 12936605 12936605 G A SNP RTBDN ENST00000322912 human ensembl 74_37 -1 known missense c.701 p.P234L 0.000 NULL pfam_Folate_rcpt-like - no_errors RTBDN HGNC ENSG00000132026 tier1 - - 57 0 0.00 71 23 24.47 TES 0 genome.wustl.edu 37 7 115874652 115874652 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 115874652 115874652 G A SNP TES ENST00000358204 human ensembl 74_37 +1 known missense c.92 p.G31E 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC ENSG00000135269 tier1 - - 60 0 0.00 93 21 18.42 TTBK2 0 genome.wustl.edu 37 15 43045337 43045337 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 43045337 43045337 C T SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known missense c.2107 p.E703K 0.998 NULL 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 TTBK2 HGNC ENSG00000128881 tier1 - - 46 0 0.00 29 34 53.97 IL20RB 0 genome.wustl.edu 37 3 136701039 136701039 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 136701039 136701039 C T SNP IL20RB ENST00000329582 human ensembl 74_37 +1 known missense c.253 p.P85S 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC ENSG00000174564 tier1 - - 61 0 0.00 70 8 10.26 COL11A2 0 genome.wustl.edu 37 6 33136329 33136329 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 33136329 33136329 C T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known silent c.3927 p.G1309 0.993 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 44 0 0.00 25 14 35.90 INHBC 0 genome.wustl.edu 37 12 57843514 57843514 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 57843514 57843514 C T SNP INHBC ENST00000309668 human ensembl 74_37 +1 known silent c.768 p.F256 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC - no_errors INHBC HGNC ENSG00000175189 tier1 - - 54 0 0.00 46 34 41.98 DOCK2 0 genome.wustl.edu 37 5 169446040 169446040 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 169446040 169446040 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.3309 p.L1103 0.991 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 36 0 0.00 26 20 43.48 NKX2-2-AS1 0 genome.wustl.edu 37 20 21492260 21492260 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 21492260 21492260 C T SNP NKX2-2-AS1 ENST00000549659 human ensembl 74_37 +1 known rna NULL NULL 0.182 - - - no_errors NKX2-2-AS1 HGNC ENSG00000258197 tier1 - - 72 0 0.00 81 32 28.32 CELF3 0 genome.wustl.edu 37 1 151679908 151679908 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 151679908 151679908 C T SNP CELF3 ENST00000470688 human ensembl 74_37 -1 known rna NULL NULL 0.046 - - - no_errors CELF3 HGNC ENSG00000159409 tier1 - - 18 0 0.00 31 11 26.19 WHSC1 0 genome.wustl.edu 37 4 1956939 1956939 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 1956939 1956939 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.2390 p.A797V 0.092 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 tier1 - - 35 0 0.00 35 11 23.91 MUC5B 0 genome.wustl.edu 37 11 1256382 1256382 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 1256382 1256382 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.2707 p.D903N 1.000 pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D 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 - - 35 0 0.00 45 15 25.00 DENND2A 0 genome.wustl.edu 37 7 140285449 140285449 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 140285449 140285449 C T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known silent c.1185 p.K395 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 tier1 - - 62 0 0.00 90 20 18.18 ANKRD23 0 genome.wustl.edu 37 2 97506580 97506580 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 97506580 97506580 C T SNP ANKRD23 ENST00000318357 human ensembl 74_37 -1 known missense c.370 p.E124K 1.000 superfamily_Ankyrin_rpt-contain_dom,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 ANKRD23 HGNC ENSG00000163126 tier1 - - 27 0 0.00 27 13 32.50 NFIA 0 genome.wustl.edu 37 1 61892191 61892191 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 61892191 61892191 G A SNP NFIA ENST00000371189 human ensembl 74_37 +1 known missense c.1610 p.R537Q 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_D-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_D-bd-dom - no_errors NFIA HGNC ENSG00000162599 tier1 - - 88 0 0.00 82 56 40.58 KSR2 0 genome.wustl.edu 37 12 118199039 118199039 + Silent SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 118199039 118199039 G T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.763 p.R255 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 45 0 0.00 43 12 21.82 SULT1C2 0 genome.wustl.edu 37 2 108921994 108921994 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 108921994 108921994 C T SNP SULT1C2 ENST00000326853 human ensembl 74_37 +1 known missense c.754 p.R252C 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C2 HGNC ENSG00000198203 tier1 rs112864909 GMAF=0.0005 83 0 0.00 35 37 51.39 ZBTB22 0 genome.wustl.edu 37 6 33283754 33283754 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 33283754 33283754 G A SNP ZBTB22 ENST00000418724 human ensembl 74_37 -1 known missense c.940 p.P314S 0.971 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 tier1 - - 71 0 0.00 65 16 19.75 OR5V1 0 genome.wustl.edu 37 6 29323687 29323687 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 29323687 29323687 C T SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.286 p.G96R 0.008 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5V1 HGNC ENSG00000243729 tier1 - - 50 0 0.00 49 12 19.35 WDR27 0 genome.wustl.edu 37 6 170047928 170047928 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 170047928 170047928 G A SNP WDR27 ENST00000448612 human ensembl 74_37 -1 known missense c.1598 p.P533L 0.004 smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 tier1 - - 112 0 0.00 117 54 31.58 C18orf8 0 genome.wustl.edu 37 18 21109648 21109648 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 21109648 21109648 C T SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known missense c.1466 p.S489F 1.000 pfam_Mic1 pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 tier1 - - 22 0 0.00 25 13 34.21 CAPN9 0 genome.wustl.edu 37 1 230898412 230898412 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 230898412 230898412 G A SNP CAPN9 ENST00000271971 human ensembl 74_37 +1 known missense c.416 p.S139N 0.959 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN9 HGNC ENSG00000135773 tier1 - - 63 0 0.00 37 40 51.95 CAPN14 0 genome.wustl.edu 37 2 31416087 31416087 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 31416087 31416087 G A SNP CAPN14 ENST00000444918 human ensembl 74_37 -1 known nonsense c.1024 p.Q342* 0.984 smart_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN14 HGNC ENSG00000214711 tier1 - - 61 0 0.00 52 13 20.00 LGI3 0 genome.wustl.edu 37 8 22006032 22006032 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 22006032 22006032 G A SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known missense c.1288 p.R430C 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 tier1 - - 37 0 0.00 28 26 48.15 KIF26B 0 genome.wustl.edu 37 1 245772644 245772644 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 245772644 245772644 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.1728 p.L576 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 - - 82 0 0.00 52 42 44.21 ZNF788 0 genome.wustl.edu 37 19 12221230 12221230 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 12221230 12221230 G A SNP ZNF788 ENST00000596883 human ensembl 74_37 +1 putative silent c.174 p.R58 0.228 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF788 HGNC ENSG00000214189 tier1 - - 80 0 0.00 81 16 16.49 CDHR4 0 genome.wustl.edu 37 3 49836363 49836363 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49836363 49836363 G A SNP CDHR4 ENST00000343366 human ensembl 74_37 -1 known missense c.467 p.S156F 0.000 NULL NULL - no_errors CDHR4 HGNC ENSG00000187492 tier1 - - 29 0 0.00 19 14 42.42 ENSG00000207187 0 genome.wustl.edu 37 2 30410410 30410410 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 30410410 30410410 C T SNP ENSG00000207187 ENST00000384458 human ensembl 74_37 +1 novel rna NULL NULL 1.000 - - - no_errors SNORA64 RFAM ENSG00000207187 tier1 - - 23 0 0.00 20 15 41.67 COL21A1 0 genome.wustl.edu 37 6 55942506 55942506 + R SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 55942506 55942506 T A SNP COL21A1 ENST00000484987 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors COL21A1 HGNC ENSG00000124749 tier1 - - 22 0 0.00 15 12 44.44 ADAM33 0 genome.wustl.edu 37 20 3652610 3652610 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 3652610 3652610 G A SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known silent c.1620 p.A540 0.878 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 tier1 - - 67 0 0.00 82 27 24.77 RIF1 0 genome.wustl.edu 37 2 152321624 152321624 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 152321624 152321624 C T SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.5590 p.P1864S 0.001 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 tier1 - - 73 0 0.00 39 36 48.00 VILL 0 genome.wustl.edu 37 3 38047358 38047358 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 38047358 38047358 C T SNP VILL ENST00000283713 human ensembl 74_37 +1 known missense c.2026 p.H676Y 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 tier1 - - 29 0 0.00 31 14 31.11 NSD1 0 genome.wustl.edu 37 5 176721767 176721767 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 176721767 176721767 G A SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known silent c.7398 p.K2466 0.999 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 28 0 0.00 29 17 36.17 ABCC3 0 genome.wustl.edu 37 17 48753302 48753302 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 48753302 48753302 C T SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.2918 p.A973V 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 tier1 - - 38 0 0.00 36 24 39.34 IL1RAPL2 0 genome.wustl.edu 37 X 105011099 105011099 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 105011099 105011099 C T SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known silent c.1506 p.I502 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 tier1 - - 40 0 0.00 17 45 72.58 TUBB8P7 0 genome.wustl.edu 37 16 90160890 90160890 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 90160890 90160890 C T SNP TUBB8P7 ENST00000564451 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors TUBB8P7 HGNC ENSG00000261812 tier1 - - 55 0 0.00 28 31 52.54 ENSG00000255200 0 genome.wustl.edu 37 11 64942443 64942443 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 64942443 64942443 G A SNP ENSG00000255200 ENST00000534819 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors AP003068.18 Clone_based_vega_gene ENSG00000255200 tier1 - - 35 0 0.00 40 24 37.50 PCDHB7 0 genome.wustl.edu 37 5 140554453 140554453 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140554453 140554453 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.2037 p.D679 0.005 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 82 0 0.00 119 32 21.19 FCRL2 0 genome.wustl.edu 37 1 157718702 157718702 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 157718702 157718702 G A SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known silent c.1356 p.T452 0.005 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 tier1 - - 73 0 0.00 98 13 11.61 VPREB1 0 genome.wustl.edu 37 22 22599580 22599580 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 22599580 22599580 C T SNP VPREB1 ENST00000403807 human ensembl 74_37 +1 known missense c.269 p.S90F 1.000 pfam_Ig_V-set,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 VPREB1 HGNC ENSG00000169575 tier1 - - 26 0 0.00 17 6 26.09 THAP10 0 genome.wustl.edu 37 15 71184585 71184585 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 71184585 71184585 G A SNP THAP10 ENST00000249861 human ensembl 74_37 -1 known silent c.27 p.H9 0.988 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP10 HGNC ENSG00000129028 tier1 - - 18 0 0.00 10 12 54.55 MATK 0 genome.wustl.edu 37 19 3778366 3778366 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 3778366 3778366 C T SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.1342 p.E448K 0.999 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 tier1 - - 46 0 0.00 62 22 26.19 ACSL6 0 genome.wustl.edu 37 5 131309055 131309055 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 131309055 131309055 G A SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known silent c.1107 p.F369 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 tier1 - - 25 0 0.00 27 11 28.95 IGFBP4 0 genome.wustl.edu 37 17 38610307 38610307 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 38610307 38610307 C T SNP IGFBP4 ENST00000269593 human ensembl 74_37 +1 known missense c.635 p.P212L 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-4 - no_errors IGFBP4 HGNC ENSG00000141753 tier1 - - 43 0 0.00 37 15 28.85 OR2V2 0 genome.wustl.edu 37 5 180582383 180582383 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 180582383 180582383 G A SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known silent c.441 p.G147 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 tier1 - - 57 0 0.00 88 15 14.56 TFAP4 0 genome.wustl.edu 37 16 4322729 4322729 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 4322729 4322729 G A SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.19 p.P7S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 tier1 - - 98 0 0.00 122 49 28.65 LOC100996735 0 genome.wustl.edu 37 1 148933406 148933406 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 148933406 148933406 T C SNP LOC100996735 ENST00000457390 human ensembl 74_37 +1 known rna NULL NULL 0.210 - - - no_errors RP11-14N7.2 Clone_based_vega_gene ENSG00000232527 tier1 - - 236 0 0.00 314 28 8.16 NEK8 0 genome.wustl.edu 37 17 27068497 27068497 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 27068497 27068497 G A SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.1958 p.G653E 0.996 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 tier1 - - 43 0 0.00 42 19 31.15 HIPK3 0 genome.wustl.edu 37 11 33370745 33370745 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 33370745 33370745 C T SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.2719 p.R907W 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 tier1 - - 61 0 0.00 38 20 34.48 FLT1 0 genome.wustl.edu 37 13 28979973 28979973 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 28979973 28979973 C T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.1495 p.G499R 0.998 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 - - 57 0 0.00 44 15 25.42 FOXN1 0 genome.wustl.edu 37 17 26864307 26864307 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 26864307 26864307 G A SNP FOXN1 ENST00000226247 human ensembl 74_37 +1 known silent c.1800 p.P600 0.305 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 tier1 - - 30 0 0.00 43 13 23.21 STT3B 0 genome.wustl.edu 37 3 31658539 31658539 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 31658539 31658539 C T SNP STT3B ENST00000295770 human ensembl 74_37 +1 known silent c.1095 p.F365 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 tier1 - - 33 0 0.00 33 15 31.25 HYAL3 0 genome.wustl.edu 37 3 50332650 50332650 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 50332650 50332650 C T SNP HYAL3 ENST00000336307 human ensembl 74_37 -1 known nonsense c.384 p.W128* 1.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL3 HGNC ENSG00000186792 tier1 - - 32 0 0.00 33 12 26.67 RORC 0 genome.wustl.edu 37 1 151780029 151780029 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 151780029 151780029 G A SNP RORC ENST00000392697 human ensembl 74_37 -1 known silent c.1638 p.I546 0.940 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_ROR_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORC HGNC ENSG00000143365 tier1 - - 41 0 0.00 77 12 13.48 GABRR1 0 genome.wustl.edu 37 6 89907898 89907898 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 89907898 89907898 G A SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known missense c.413 p.T138I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 tier1 - - 70 0 0.00 80 14 14.89 NMUR2 0 genome.wustl.edu 37 5 151784292 151784292 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 151784292 151784292 G A SNP NMUR2 ENST00000255262 human ensembl 74_37 -1 known missense c.383 p.T128I 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 tier1 - - 35 0 0.00 38 19 33.33 SF3B2 0 genome.wustl.edu 37 11 65826322 65826322 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 65826322 65826322 C T SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known nonsense c.988 p.R330* 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 tier1 - - 64 0 0.00 74 42 36.21 ZNF318 0 genome.wustl.edu 37 6 43305569 43305569 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 43305569 43305569 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.6167 p.S2056F 0.170 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 tier1 - - 104 0 0.00 57 40 41.24 DPP10 0 genome.wustl.edu 37 2 116599908 116599908 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 116599908 116599908 A G SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.2390 p.E797G 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 53 0 0.00 39 25 39.06 SLC4A7 0 genome.wustl.edu 37 3 27431472 27431472 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 27431472 27431472 G A SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.3310 p.L1104F 0.989 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 tier1 - - 81 0 0.00 68 38 35.85 ANK3 0 genome.wustl.edu 37 10 61830270 61830270 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 61830270 61830270 G T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.10369 p.R3457S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 42 0 0.00 44 4 8.33 IGSF10 0 genome.wustl.edu 37 3 151161405 151161405 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 151161405 151161405 A G SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.5330 p.V1777A 0.249 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 71 0 0.00 74 35 32.11 LRRIQ1 0 genome.wustl.edu 37 12 85460656 85460656 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 85460656 85460656 A G SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.2675 p.Y892C 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 61 0 0.00 49 30 37.97 PCDHGA1 0 genome.wustl.edu 37 5 140710482 140710482 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140710482 140710482 G A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known silent c.231 p.L77 0.977 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 tier1 - - 39 0 0.00 46 16 25.81 FBXL19 0 genome.wustl.edu 37 16 30938630 30938630 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30938630 30938630 C T SNP FBXL19 ENST00000380310 human ensembl 74_37 +1 known missense c.239 p.P80L 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_CXXC,pfam_F-box_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors FBXL19 HGNC ENSG00000099364 tier1 - - 83 0 0.00 106 22 17.19 GLYAT 0 genome.wustl.edu 37 11 58480281 58480281 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 58480281 58480281 G A SNP GLYAT ENST00000344743 human ensembl 74_37 -1 known missense c.268 p.L90F 0.852 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 tier1 - - 57 0 0.00 54 13 19.40 OR1J2 0 genome.wustl.edu 37 9 125273338 125273338 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 125273338 125273338 G A SNP OR1J2 ENST00000335302 human ensembl 74_37 +1 known silent c.258 p.R86 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC ENSG00000197233 tier1 rs138188243 - 59 0 0.00 59 26 30.59 CALCR 0 genome.wustl.edu 37 7 93108745 93108745 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 93108745 93108745 G A SNP CALCR ENST00000359558 human ensembl 74_37 -1 known silent c.180 p.V60 0.000 prints_GPCR_2_calcitonin_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCR HGNC ENSG00000004948 tier1 - - 42 0 0.00 32 17 34.69 CCDC136 0 genome.wustl.edu 37 7 128450358 128450358 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 128450358 128450358 G A SNP CCDC136 ENST00000297788 human ensembl 74_37 +1 known missense c.1966 p.E656K 0.099 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 tier1 - - 43 0 0.00 39 14 26.42 PCDH11Y 0 genome.wustl.edu 37 Y 4925406 4925406 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 Y 4925406 4925406 C T SNP PCDH11Y ENST00000215473 human ensembl 74_37 +1 known missense c.542 p.P181L 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11Y HGNC ENSG00000099715 tier1 - - 68 0 0.00 29 54 65.06 OR10H1 0 genome.wustl.edu 37 19 15918651 15918651 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 15918651 15918651 A G SNP OR10H1 ENST00000334920 human ensembl 74_37 -1 known missense c.197 p.L66P 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 tier1 - - 61 0 0.00 51 21 28.77 PRRC2B 0 genome.wustl.edu 37 9 134346221 134346221 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 134346221 134346221 C T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.1958 p.P653L 0.983 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 rs149752367 GMAF=0.0005 54 0 0.00 67 18 21.18 MYO15A 0 genome.wustl.edu 37 17 18054156 18054156 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 18054156 18054156 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.7402 p.E2468K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 83 0 0.00 100 13 11.50 PSMB5 0 genome.wustl.edu 37 14 23496971 23496971 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 23496971 23496971 C A SNP PSMB5 ENST00000493471 human ensembl 74_37 -1 known missense c.573 p.R191S 0.001 NULL pfam_Proteasome_sua/b - no_errors PSMB5 HGNC ENSG00000100804 tier1 - - 54 0 0.00 55 5 8.33 OR6F1 0 genome.wustl.edu 37 1 247875341 247875341 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 247875341 247875341 G A SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known silent c.717 p.S239 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 tier1 - - 76 0 0.00 115 26 18.31 SLC45A2 0 genome.wustl.edu 37 5 33982499 33982499 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 33982499 33982499 C T SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known missense c.404 p.R135K 0.019 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 tier1 - - 17 0 0.00 13 11 45.83 MEGF10 0 genome.wustl.edu 37 5 126780994 126780994 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 126780994 126780994 G A SNP MEGF10 ENST00000510828 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors MEGF10 HGNC ENSG00000145794 tier1 - - 49 0 0.00 26 23 46.94 SLC25A10 0 genome.wustl.edu 37 17 79671381 79671381 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 79671381 79671381 C T SNP SLC25A10 ENST00000541223 human ensembl 74_37 +1 known missense c.182 p.P61L 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A10 HGNC ENSG00000183048 tier1 - - 33 0 0.00 45 20 30.77 FAM229B 0 genome.wustl.edu 37 6 112421880 112421880 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 112421880 112421880 C T SNP FAM229B ENST00000368656 human ensembl 74_37 +1 known missense c.133 p.R45W 1.000 NULL NULL - no_errors FAM229B HGNC ENSG00000203778 tier1 rs61746601 GMAF=0.0005 59 0 0.00 39 6 13.33 TMEM235 0 genome.wustl.edu 37 17 76235311 76235311 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 76235311 76235311 C T SNP TMEM235 ENST00000421688 human ensembl 74_37 +1 known missense c.947 p.P316L 0.000 NULL NULL - no_errors TMEM235 HGNC ENSG00000204278 tier1 - - 54 0 0.00 54 24 30.77 CNBD2 0 genome.wustl.edu 37 20 34596373 34596373 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 34596373 34596373 C T SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known silent c.1125 p.P375 0.926 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 tier1 - - 32 0 0.00 51 16 23.53 POLDIP2 0 genome.wustl.edu 37 17 26675195 26675195 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 26675195 26675195 G A SNP POLDIP2 ENST00000540200 human ensembl 74_37 -1 known missense c.1052 p.S351F 1.000 superfamily_ApaG_domain,pfscan_ApaG_domain pfam_ApaG_domain,pfam_Hemimethylated_D-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_D-bd_dom,pfscan_ApaG_domain - no_errors POLDIP2 HGNC ENSG00000004142 tier1 - - 47 0 0.00 38 18 32.14 COL11A2 0 genome.wustl.edu 37 6 33136330 33136330 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 33136330 33136330 C T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.3926 p.G1309E 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 43 0 0.00 25 14 35.90 FCHSD2 0 genome.wustl.edu 37 11 72553810 72553810 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 72553810 72553810 G A SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known silent c.1782 p.I594 0.997 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 tier1 - - 94 0 0.00 79 28 25.93 FAM47E 0 genome.wustl.edu 37 4 77177483 77177483 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 77177483 77177483 C T SNP FAM47E ENST00000424749 human ensembl 74_37 +1 known missense c.227 p.P76L 0.733 NULL superfamily_eIF4G1_eIF4E-bd - no_errors FAM47E HGNC ENSG00000189157 tier1 - - 70 0 0.00 47 33 41.25 ADAM9 0 genome.wustl.edu 37 8 38940563 38940563 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 38940563 38940563 G A SNP ADAM9 ENST00000487273 human ensembl 74_37 +1 known missense c.2039 p.G680E 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 tier1 - - 60 0 0.00 62 15 19.48 ARHGAP29 0 genome.wustl.edu 37 1 94650616 94650616 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 94650616 94650616 A C SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.1921 p.C641G 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 - - 54 0 0.00 30 15 33.33 CD163L1 0 genome.wustl.edu 37 12 7550929 7550929 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 7550929 7550929 C T SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.1660 p.D554N 0.303 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 tier1 - - 53 0 0.00 42 15 26.32 CTDP1 0 genome.wustl.edu 37 18 77474693 77474693 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 77474693 77474693 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known silent c.1233 p.Q411 0.000 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 tier1 - - 30 0 0.00 15 25 62.50 COL6A6 0 genome.wustl.edu 37 3 130287341 130287341 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 130287341 130287341 T G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.2294 p.L765R 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 39 0 0.00 43 29 40.28 GAA 0 genome.wustl.edu 37 17 78081460 78081460 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 78081460 78081460 C T SNP GAA ENST00000302262 human ensembl 74_37 +1 known missense c.797 p.P266L 0.996 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 tier1 - - 31 0 0.00 23 10 29.41 CHERP 0 genome.wustl.edu 37 19 16631200 16631200 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 16631200 16631200 G A SNP CHERP ENST00000546361 human ensembl 74_37 -1 known missense c.2320 p.R774C 0.967 NULL pfam_Surp,pfam_G_patch_dom,pfam_R_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 tier1 rs201289066 - 46 0 0.00 53 38 41.30 SAGE1 0 genome.wustl.edu 37 X 134990644 134990644 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 134990644 134990644 G A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.1309 p.V437I 0.001 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 tier1 - - 27 0 0.00 5 13 72.22 ATP2A3 0 genome.wustl.edu 37 17 3853882 3853882 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 3853882 3853882 C G SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known missense c.553 p.V185L 1.000 pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase 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 ATP2A3 HGNC ENSG00000074370 tier1 - - 60 0 0.00 43 31 41.89 MPDZ 0 genome.wustl.edu 37 9 13196121 13196121 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 13196121 13196121 A T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.1655 p.V552E 1.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 tier1 - - 58 0 0.00 30 30 50.00 APOB 0 genome.wustl.edu 37 2 21233941 21233941 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 21233941 21233941 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.5799 p.L1933 0.963 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 70 0 0.00 57 31 35.23 TBKBP1 0 genome.wustl.edu 37 17 45777023 45777023 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 45777023 45777023 G A SNP TBKBP1 ENST00000361722 human ensembl 74_37 +1 known missense c.832 p.E278K 1.000 NULL NULL - no_errors TBKBP1 HGNC ENSG00000198933 tier1 - - 68 0 0.00 43 31 41.89 ESCO2 0 genome.wustl.edu 37 8 27634301 27634301 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 27634301 27634301 C T SNP ESCO2 ENST00000305188 human ensembl 74_37 +1 known missense c.476 p.S159L 0.019 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 tier1 - - 48 0 0.00 34 28 45.16 FAM41C 0 genome.wustl.edu 37 1 809511 809511 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 809511 809511 G A SNP FAM41C ENST00000446136 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM41C HGNC ENSG00000230368 tier1 - - 95 0 0.00 65 53 44.92 LRRIQ4 0 genome.wustl.edu 37 3 169540355 169540355 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 169540355 169540355 T C SNP LRRIQ4 ENST00000340806 human ensembl 74_37 +1 known missense c.646 p.F216L 0.877 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 tier1 - - 48 0 0.00 28 19 40.43 CAC1S 0 genome.wustl.edu 37 1 201013474 201013474 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 201013474 201013474 C T SNP CAC1S ENST00000362061 human ensembl 74_37 -1 known missense c.4779 p.M1593I 0.969 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CAC1S HGNC ENSG00000081248 tier1 - - 31 0 0.00 20 9 31.03 CAND2 0 genome.wustl.edu 37 3 12858728 12858728 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 12858728 12858728 G A SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.2297 p.G766E 0.943 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 tier1 - - 23 0 0.00 11 11 50.00 CCDC70 0 genome.wustl.edu 37 13 52439835 52439835 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 52439835 52439835 C T SNP CCDC70 ENST00000242819 human ensembl 74_37 +1 known silent c.321 p.F107 0.001 NULL NULL - no_errors CCDC70 HGNC ENSG00000123171 tier1 - - 53 0 0.00 31 11 26.19 GON4L 0 genome.wustl.edu 37 1 155736173 155736173 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 155736173 155736173 G A SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.3091 p.P1031S 0.997 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 - - 87 0 0.00 82 20 19.61 TMTC2 0 genome.wustl.edu 37 12 83250830 83250830 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 83250830 83250830 C T SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known missense c.125 p.P42L 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 tier1 - - 41 0 0.00 18 25 58.14 KIF13A 0 genome.wustl.edu 37 6 17781058 17781058 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 17781058 17781058 A C SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.3749 p.I1250S 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 tier1 - - 44 0 0.00 47 11 18.97 IFT43 0 genome.wustl.edu 37 14 76488722 76488722 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 76488722 76488722 C T SNP IFT43 ENST00000238628 human ensembl 74_37 +1 known missense c.200 p.S67F 0.212 NULL NULL - no_errors IFT43 HGNC ENSG00000119650 tier1 - - 49 0 0.00 26 11 29.73 OR52R1 0 genome.wustl.edu 37 11 4824749 4824749 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 4824749 4824749 G A SNP OR52R1 ENST00000380382 human ensembl 74_37 -1 known missense c.1099 p.P367S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 tier1 - - 79 0 0.00 113 22 16.30 FMO9P 0 genome.wustl.edu 37 1 166591242 166591242 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 166591242 166591242 C T SNP FMO9P ENST00000477875 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors FMO9P HGNC ENSG00000215834 tier1 - - 80 0 0.00 66 53 44.17 NBPF22P 0 genome.wustl.edu 37 5 85583503 85583503 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 85583503 85583503 G A SNP NBPF22P ENST00000590707 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors NBPF22P HGNC ENSG00000205449 tier1 - - 125 0 0.00 125 80 39.02 SLC17A3 0 genome.wustl.edu 37 6 25862543 25862543 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 25862543 25862543 G A SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known missense c.221 p.S74F 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 tier1 - - 52 0 0.00 66 17 20.48 PRICKLE1 0 genome.wustl.edu 37 12 42858908 42858908 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 42858908 42858908 C T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.928 p.E310K 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 tier1 - - 44 0 0.00 40 8 16.33 ENSG00000184566 0 genome.wustl.edu 37 11 33902830 33902830 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 33902830 33902830 G A SNP ENSG00000184566 ENST00000330381 human ensembl 74_37 +1 known missense c.182 p.G61E 0.879 NULL NULL - no_errors AC132216.1 Clone_based_ensembl_gene ENSG00000184566 tier1 - - 45 0 0.00 26 23 46.94 FRMPD4 0 genome.wustl.edu 37 X 12736026 12736026 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 12736026 12736026 G A SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known silent c.3081 p.R1027 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 tier1 - - 28 0 0.00 33 11 25.00 TMEM176A 0 genome.wustl.edu 37 7 150500762 150500762 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 150500762 150500762 C T SNP TMEM176A ENST00000004103 human ensembl 74_37 +1 known missense c.397 p.L133F 0.003 pfam_CD20-like pfam_CD20-like - no_errors TMEM176A HGNC ENSG00000002933 tier1 - - 71 0 0.00 60 31 34.07 DHDDS 0 genome.wustl.edu 37 1 26769229 26769229 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 26769229 26769229 G A SNP DHDDS ENST00000360009 human ensembl 74_37 +1 known missense c.188 p.R63Q 1.000 pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like - no_errors DHDDS HGNC ENSG00000117682 tier1 - - 66 0 0.00 60 36 37.50 CYP4F29P 0 genome.wustl.edu 37 21 15220676 15220676 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 15220676 15220676 G A SNP CYP4F29P ENST00000428301 human ensembl 74_37 -1 known rna NULL NULL 0.071 - - - no_errors CYP4F29P HGNC ENSG00000228314 tier1 - - 48 0 0.00 36 21 36.84 STAT4 0 genome.wustl.edu 37 2 191919251 191919251 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 191919251 191919251 C T SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.1216 p.E406K 1.000 pfam_STAT_TF_D-bd,superfamily_p53-like_TF_D-bd pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 tier1 - - 94 0 0.00 80 20 19.80 ABCC8 0 genome.wustl.edu 37 11 17483347 17483347 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 17483347 17483347 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.605 p.R202K 0.018 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 71 0 0.00 60 38 38.78 ZZZ3 0 genome.wustl.edu 37 1 78030487 78030487 + R SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 78030487 78030487 T A SNP ZZZ3 ENST00000476275 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZZZ3 HGNC ENSG00000036549 tier1 - - 53 0 0.00 53 20 27.40 OR52K2 0 genome.wustl.edu 37 11 4470782 4470782 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 4470782 4470782 C T SNP OR52K2 ENST00000325719 human ensembl 74_37 +1 known silent c.213 p.I71 0.969 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 tier1 rs143954018 - 54 0 0.00 62 30 32.61 ENSG00000166104 0 genome.wustl.edu 37 15 62539252 62539252 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 62539252 62539252 C T SNP ENSG00000166104 ENST00000570077 human ensembl 74_37 -1 known rna NULL NULL 0.912 - - - no_errors hsa-mir-7162 miRBase ENSG00000166104 tier1 - - 114 0 0.00 65 37 36.27 FSIP2 0 genome.wustl.edu 37 2 186667357 186667357 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 186667357 186667357 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.13591 p.D4531N 0.037 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 39 0 0.00 35 17 32.69 DYNC2H1 0 genome.wustl.edu 37 11 103106525 103106525 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 103106525 103106525 A G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.9692 p.K3231R 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 109 0 0.00 97 38 28.15 TMPRSS11E 0 genome.wustl.edu 37 4 69344607 69344607 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 69344607 69344607 C T SNP TMPRSS11E ENST00000305363 human ensembl 74_37 +1 known silent c.1008 p.L336 0.572 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11E HGNC ENSG00000087128 tier1 - - 37 0 0.00 42 17 28.81 MIR3122 0 genome.wustl.edu 37 1 212251014 212251014 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 212251014 212251014 C T SNP MIR3122 ENST00000577243 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors MIR3122 HGNC ENSG00000264358 tier1 - - 46 0 0.00 45 22 32.84 SPATA13 0 genome.wustl.edu 37 13 24797073 24797073 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 24797073 24797073 C T SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known silent c.6 p.T2 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 tier1 - - 44 0 0.00 29 11 27.50 KHNYN 0 genome.wustl.edu 37 14 24900848 24900848 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 24900848 24900848 C T SNP KHNYN ENST00000251343 human ensembl 74_37 +1 known silent c.381 p.A127 0.981 NULL pfam_RNase_Zc3h12 - no_errors KHNYN HGNC ENSG00000100441 tier1 - - 22 0 0.00 9 7 43.75 ASTN2 0 genome.wustl.edu 37 9 119737615 119737615 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 119737615 119737615 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.1761 p.F587 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 58 0 0.00 46 11 19.30 GATC 0 genome.wustl.edu 37 12 120884352 120884352 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 120884352 120884352 G A SNP GATC ENST00000551765 human ensembl 74_37 +1 known silent c.69 p.K23 0.011 NULL pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu - no_errors GATC HGNC ENSG00000257218 tier1 - - 34 0 0.00 43 9 17.31 B4GALT5 0 genome.wustl.edu 37 20 48260127 48260127 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 48260127 48260127 G A SNP B4GALT5 ENST00000371711 human ensembl 74_37 -1 known missense c.425 p.S142F 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT5 HGNC ENSG00000158470 tier1 - - 58 0 0.00 65 37 36.27 ENSG00000263738 0 genome.wustl.edu 37 4 158281316 158281316 + R SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 158281316 158281316 A G SNP ENSG00000263738 ENST00000578227 human ensembl 74_37 +1 novel rna NULL NULL 1.000 - - - no_errors AC079233.1 Clone_based_ensembl_gene ENSG00000263738 tier1 - - 11 0 0.00 15 9 37.50 EP300 0 genome.wustl.edu 37 22 41513453 41513453 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 41513453 41513453 T A SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.357 p.N119K 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 31 0 0.00 23 18 43.90 FUT8 0 genome.wustl.edu 37 14 66096251 66096251 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 66096251 66096251 G A SNP FUT8 ENST00000360689 human ensembl 74_37 +1 known missense c.524 p.G175E 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC ENSG00000033170 tier1 - - 96 0 0.00 41 56 57.73 FRMPD4 0 genome.wustl.edu 37 X 12712520 12712520 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 12712520 12712520 C T SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.880 p.P294S 1.000 superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 tier1 - - 60 0 0.00 50 26 34.21 LOC339788 0 genome.wustl.edu 37 2 8108350 8108350 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 8108350 8108350 C T SNP LOC339788 ENST00000426969 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC007464.1 Clone_based_vega_gene ENSG00000235665 tier1 - - 77 0 0.00 52 27 34.18 FCGR2A 0 genome.wustl.edu 37 1 161487995 161487995 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 161487995 161487995 G A SNP FCGR2A ENST00000461298 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors FCGR2A HGNC ENSG00000143226 tier1 - - 50 0 0.00 63 11 14.86 CCDC60 0 genome.wustl.edu 37 12 119773025 119773025 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 119773025 119773025 A G SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.44 p.N15S 0.007 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 tier1 - - 157 0 0.00 98 66 40.24 LOC100505989 0 genome.wustl.edu 37 4 165722399 165722399 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 165722399 165722399 G A SNP LOC100505989 ENST00000507311 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors RP11-294O2.2 Clone_based_vega_gene ENSG00000248771 tier1 - - 60 0 0.00 58 17 22.67 TSSC1 0 genome.wustl.edu 37 2 3193007 3193007 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 3193007 3193007 C T SNP TSSC1 ENST00000478754 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TSSC1 HGNC ENSG00000032389 tier1 - - 52 0 0.00 41 18 30.51 LINC00311 0 genome.wustl.edu 37 16 85317065 85317065 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 85317065 85317065 G A SNP LINC00311 ENST00000366314 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00311 HGNC ENSG00000179219 tier1 - - 26 0 0.00 12 15 55.56 VPS13B 0 genome.wustl.edu 37 8 100115205 100115205 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 100115205 100115205 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.437 p.R146Q 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 45 0 0.00 36 4 10.00 SOGA2 0 genome.wustl.edu 37 18 8825818 8825818 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 8825818 8825818 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.4310 p.T1437I 1.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 92 0 0.00 44 26 37.14 DCLRE1B 0 genome.wustl.edu 37 1 114449769 114449769 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 114449769 114449769 C T SNP DCLRE1B ENST00000369563 human ensembl 74_37 +1 known missense c.341 p.T114I 1.000 NULL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 tier1 - - 60 0 0.00 49 12 19.67 DH2 0 genome.wustl.edu 37 17 7734590 7734590 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 7734590 7734590 G A SNP DH2 ENST00000389173 human ensembl 74_37 +1 known silent c.12417 p.Q4139 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH2 HGNC ENSG00000183914 tier1 - - 41 0 0.00 32 10 23.81 DHRS4L2 0 genome.wustl.edu 37 14 24470241 24470241 + Splice_Site DEL G G - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 24470241 24470241 G - DEL DHRS4L2 ENST00000382755 human ensembl 74_37 +1 known splice_site_del c.474-1 e5-1 0.969 - - - no_errors DHRS4L2 HGNC ENSG00000187630 tier1 70 0 0.00 42 25 37.31 HMOX2 0 genome.wustl.edu 37 16 4559476 4559476 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 4559476 4559476 C T SNP HMOX2 ENST00000219700 human ensembl 74_37 +1 known missense c.760 p.P254S 1.000 superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX2 HGNC ENSG00000103415 tier1 - - 33 0 0.00 57 13 18.57 SPEG 0 genome.wustl.edu 37 2 220333750 220333750 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 220333750 220333750 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.3471 p.R1157 0.487 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 tier1 - - 66 0 0.00 50 45 47.37 OR6B1 0 genome.wustl.edu 37 7 143701182 143701182 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 143701182 143701182 C T SNP OR6B1 ENST00000408922 human ensembl 74_37 +1 known silent c.93 p.F31 0.739 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 tier1 - - 100 0 0.00 87 45 34.09 MED23 0 genome.wustl.edu 37 6 131915262 131915262 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 131915262 131915262 C T SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.3227 p.R1076K 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 tier1 - - 51 0 0.00 69 27 28.12 ACSM4 0 genome.wustl.edu 37 12 7463240 7463240 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 7463240 7463240 C T SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.518 p.P173L 0.142 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 tier1 - - 59 0 0.00 60 16 21.05 RCBTB1 0 genome.wustl.edu 37 13 50129763 50129763 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 50129763 50129763 G A SNP RCBTB1 ENST00000258646 human ensembl 74_37 -1 known missense c.491 p.S164F 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB1 HGNC ENSG00000136144 tier1 - - 53 0 0.00 33 11 25.00 COPB2 0 genome.wustl.edu 37 3 139079946 139079946 + Frame_Shift_Del DEL G G - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 139079946 139079946 G - DEL COPB2 ENST00000333188 human ensembl 74_37 -1 known frame_shift_del c.2187 p.F729fs 1.000 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 tier1 39 0 0.00 46 17 26.98 PPP1R12C 0 genome.wustl.edu 37 19 55605723 55605723 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 55605723 55605723 C T SNP PPP1R12C ENST00000263433 human ensembl 74_37 -1 known missense c.1673 p.R558K 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 tier1 - - 41 0 0.00 40 8 16.67 ERVMER61-1 0 genome.wustl.edu 37 1 187610372 187610372 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 187610372 187610372 C T SNP ERVMER61-1 ENST00000429725 human ensembl 74_37 +1 known rna NULL NULL 0.128 - - - no_errors ERVMER61-1 HGNC ENSG00000230426 tier1 - - 25 0 0.00 26 6 18.75 C14orf37 0 genome.wustl.edu 37 14 58605956 58605956 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 58605956 58605956 G A SNP C14orf37 ENST00000267485 human ensembl 74_37 -1 known missense c.121 p.H41Y 0.009 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 tier1 - - 97 0 0.00 25 41 62.12 CSMD1 0 genome.wustl.edu 37 8 3226824 3226824 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 3226824 3226824 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2854 p.P952S 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 tier1 - - 122 0 0.00 67 22 24.72 VDAC1 0 genome.wustl.edu 37 5 133308428 133308428 + R SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 133308428 133308428 A C SNP VDAC1 ENST00000492324 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors VDAC1 HGNC ENSG00000213585 tier1 - - 52 0 0.00 45 27 37.50 TCN1 0 genome.wustl.edu 37 11 59629151 59629151 + Silent SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 59629151 59629151 T A SNP TCN1 ENST00000257264 human ensembl 74_37 -1 known silent c.405 p.A135 0.040 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 tier1 - - 33 0 0.00 31 16 34.04 C1orf27 0 genome.wustl.edu 37 1 186363086 186363086 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 186363086 186363086 C T SNP C1orf27 ENST00000287859 human ensembl 74_37 +1 known missense c.719 p.S240F 0.526 NULL NULL - no_errors C1orf27 HGNC ENSG00000157181 tier1 - - 59 0 0.00 46 20 30.30 RERE 0 genome.wustl.edu 37 1 8601374 8601374 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 8601374 8601374 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known silent c.729 p.G243 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 tier1 - - 44 0 0.00 19 21 52.50 SHROOM3 0 genome.wustl.edu 37 4 77660843 77660843 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 77660843 77660843 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.1517 p.G506E 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 27 0 0.00 32 9 21.95 FKBP15 0 genome.wustl.edu 37 9 115962207 115962207 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 115962207 115962207 C T SNP FKBP15 ENST00000238256 human ensembl 74_37 -1 known missense c.535 p.D179N 1.000 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 tier1 - - 49 0 0.00 44 21 32.31 ZNF700 0 genome.wustl.edu 37 19 12060728 12060728 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 12060728 12060728 G A SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1889 p.R630K 0.000 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 ZNF700 HGNC ENSG00000196757 tier1 - - 63 0 0.00 58 14 19.44 AHCTF1 0 genome.wustl.edu 37 1 247015265 247015265 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 247015265 247015265 G A SNP AHCTF1 ENST00000483900 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 95 0 0.00 118 40 25.32 CASKIN2 0 genome.wustl.edu 37 17 73498253 73498253 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 73498253 73498253 C T SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known missense c.2902 p.G968S 0.219 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 tier1 - - 26 0 0.00 20 15 42.86 CUL9 0 genome.wustl.edu 37 6 43152478 43152478 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 43152478 43152478 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.430 p.H144Y 0.999 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 tier1 - - 35 0 0.00 17 12 41.38 BCL9L 0 genome.wustl.edu 37 11 118769682 118769682 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 118769682 118769682 G A SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known silent c.3942 p.I1314 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 60 0 0.00 45 26 36.11 ZMYM3 0 genome.wustl.edu 37 X 70469919 70469919 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 70469919 70469919 G A SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.1214 p.P405L 0.047 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 25 0 0.00 16 35 68.63 EVPL 0 genome.wustl.edu 37 17 74007888 74007888 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 74007888 74007888 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known nonsense c.2533 p.R845* 0.444 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 - - 27 0 0.00 18 13 41.94 UNKL 0 genome.wustl.edu 37 16 1419970 1419970 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 1419970 1419970 G A SNP UNKL ENST00000248104 human ensembl 74_37 -1 known missense c.38 p.P13L 0.008 NULL pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 tier1 - - 38 0 0.00 36 13 26.00 IL1RAPL1 0 genome.wustl.edu 37 X 29959898 29959898 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 29959898 29959898 A G SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.1188 p.E396 0.997 superfamily_TIR_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 37 0 0.00 33 17 34.00 BANK1 0 genome.wustl.edu 37 4 102951401 102951401 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 102951401 102951401 A G SNP BANK1 ENST00000322953 human ensembl 74_37 +1 known missense c.1879 p.T627A 0.916 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC ENSG00000153064 tier1 - - 77 0 0.00 71 25 26.04 GRIK5 0 genome.wustl.edu 37 19 42566692 42566692 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 42566692 42566692 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known silent c.456 p.I152 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 tier1 - - 41 0 0.00 54 26 32.50 GBF1 0 genome.wustl.edu 37 10 104122337 104122337 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 104122337 104122337 C T SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.1789 p.L597F 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 tier1 - - 48 0 0.00 41 5 10.87 WHSC1 0 genome.wustl.edu 37 4 1957789 1957789 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 1957789 1957789 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.2755 p.P919S 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 tier1 - - 44 0 0.00 32 17 34.00 BAZ2A 0 genome.wustl.edu 37 12 57005382 57005382 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 57005382 57005382 C T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.1651 p.E551K 1.000 pfam_Methyl_CpG_D-bd,superfamily_D-bd_dom,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd pfam_Bromodomain,pfam_Methyl_CpG_D-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_D-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_D-bd,smart_AT_hook_D-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_D-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 tier1 - - 100 0 0.00 72 59 45.04 GPR89B 0 genome.wustl.edu 37 1 147416171 147416171 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 147416171 147416171 G A SNP GPR89B ENST00000314163 human ensembl 74_37 +1 known nonsense c.374 p.W125* 1.000 NULL pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom - no_errors GPR89B HGNC ENSG00000188092 tier1 - - 62 0 0.00 40 32 44.44 FRMD1 0 genome.wustl.edu 37 6 168463404 168463404 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 168463404 168463404 G A SNP FRMD1 ENST00000432403 human ensembl 74_37 -1 known rna NULL NULL 0.556 - - - no_errors FRMD1 HGNC ENSG00000153303 tier1 - - 33 0 0.00 71 22 23.66 ENSG00000224631 0 genome.wustl.edu 37 16 61089769 61089769 + R SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 61089769 61089769 A G SNP ENSG00000224631 ENST00000591758 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 tier1 - - 46 0 0.00 25 17 40.48 OR6C76 0 genome.wustl.edu 37 12 55820153 55820153 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 55820153 55820153 G A SNP OR6C76 ENST00000328314 human ensembl 74_37 +1 known missense c.116 p.G39E 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 tier1 - - 51 0 0.00 17 29 63.04 JMY 0 genome.wustl.edu 37 5 78586063 78586063 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 78586063 78586063 G T SNP JMY ENST00000396137 human ensembl 74_37 +1 known missense c.1326 p.K442N 0.997 NULL pfscan_WH2_dom - no_errors JMY HGNC ENSG00000152409 tier1 - - 91 0 0.00 72 37 33.94 ZNF471 0 genome.wustl.edu 37 19 57036469 57036469 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 57036469 57036469 C T SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.1033 p.P345S 0.998 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 ZNF471 HGNC ENSG00000196263 tier1 - - 34 0 0.00 21 16 43.24 FBXO18 0 genome.wustl.edu 37 10 5959430 5959430 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 5959430 5959430 G A SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known silent c.1989 p.L663 0.961 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 tier1 - - 84 0 0.00 68 35 33.98 MERTK 0 genome.wustl.edu 37 2 112767593 112767593 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 112767593 112767593 G A SNP MERTK ENST00000295408 human ensembl 74_37 +1 known missense c.2029 p.G677R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MERTK HGNC ENSG00000153208 tier1 - - 64 0 0.00 41 38 48.10 C16orf71 0 genome.wustl.edu 37 16 4797014 4797014 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 4797014 4797014 C T SNP C16orf71 ENST00000299320 human ensembl 74_37 +1 known missense c.1268 p.S423F 0.101 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 tier1 - - 70 0 0.00 61 27 30.68 TNFSF15 0 genome.wustl.edu 37 9 117555839 117555839 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 117555839 117555839 C T SNP TNFSF15 ENST00000374045 human ensembl 74_37 -1 known missense c.220 p.G74R 0.012 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF15 HGNC ENSG00000181634 tier1 - - 37 0 0.00 29 21 42.00 YTHDC2 0 genome.wustl.edu 37 5 112860746 112860746 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 112860746 112860746 C T SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known missense c.347 p.T116I 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 tier1 - - 76 0 0.00 77 19 19.79 DOCK6 0 genome.wustl.edu 37 19 11319661 11319661 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 11319661 11319661 C T SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.4870 p.A1624T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 tier1 - - 28 0 0.00 16 19 54.29 NEK6 0 genome.wustl.edu 37 9 127088704 127088704 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 127088704 127088704 G A SNP NEK6 ENST00000373600 human ensembl 74_37 +1 known silent c.603 p.R201 0.965 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,prints_Ser-Thr/Tyr_kinase_cat_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 tier1 - - 24 0 0.00 29 20 40.82 TLR8 0 genome.wustl.edu 37 X 12939947 12939947 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 12939947 12939947 G A SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.2788 p.D930N 0.992 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom 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 - - 20 0 0.00 13 6 31.58 KCNN1 0 genome.wustl.edu 37 19 18096154 18096154 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 18096154 18096154 C T SNP KCNN1 ENST00000222249 human ensembl 74_37 +1 known silent c.951 p.F317 1.000 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN1 HGNC ENSG00000105642 tier1 - - 27 0 0.00 24 10 29.41 DUOX2 0 genome.wustl.edu 37 15 45399614 45399614 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 45399614 45399614 C A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.1622 p.R541L 0.313 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 tier1 - - 67 0 0.00 36 29 44.62 GALNTL6 0 genome.wustl.edu 37 4 173269726 173269726 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 173269726 173269726 C T SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.439 p.P147S 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 tier1 - - 55 0 0.00 66 19 22.35 HELQ 0 genome.wustl.edu 37 4 84368140 84368140 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 84368140 84368140 C T SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.1240 p.E414K 1.000 pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_D_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 tier1 - - 95 0 0.00 60 47 43.93 ANK1 0 genome.wustl.edu 37 8 41530215 41530215 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 41530215 41530215 G T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.4753 p.L1585M 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 17 0 0.00 22 6 21.43 BCCIP 0 genome.wustl.edu 37 10 127541727 127541727 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 127541727 127541727 C G SNP BCCIP ENST00000368759 human ensembl 74_37 +1 known missense c.884 p.S295C 0.002 NULL NULL - no_errors BCCIP HGNC ENSG00000107949 tier1 - - 44 0 0.00 24 16 40.00 KMT2C 0 genome.wustl.edu 37 7 151871280 151871280 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 151871280 151871280 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.9310 p.L3104F 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 57 0 0.00 57 28 32.94 TSC1 0 genome.wustl.edu 37 9 135782743 135782743 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 135782743 135782743 A G SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known silent c.1278 p.D426 0.237 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 tier1 - - 37 0 0.00 38 20 34.48 TMPRSS11A 0 genome.wustl.edu 37 4 68784885 68784885 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 68784885 68784885 C T SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known missense c.767 p.R256K 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 tier1 - - 57 0 0.00 59 15 20.27 SSH2 0 genome.wustl.edu 37 17 27958927 27958927 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 27958927 27958927 C T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known silent c.3204 p.Q1068 0.093 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 tier1 - - 41 0 0.00 46 30 39.47 ENSG00000238129 0 genome.wustl.edu 37 20 26174098 26174098 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 26174098 26174098 G A SNP ENSG00000238129 ENST00000416638 human ensembl 74_37 +1 known rna NULL NULL 0.063 - - - no_errors RP3-410C9.2 Clone_based_vega_gene ENSG00000238129 tier1 - - 109 0 0.00 143 26 15.38 SOCS2 0 genome.wustl.edu 37 12 93968915 93968915 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 93968915 93968915 G A SNP SOCS2 ENST00000340600 human ensembl 74_37 +1 known missense c.557 p.R186K 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors SOCS2 HGNC ENSG00000120833 tier1 - - 55 0 0.00 52 17 24.64 OR6F1 0 genome.wustl.edu 37 1 247875800 247875800 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 247875800 247875800 C T SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known silent c.258 p.L86 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 tier1 - - 33 0 0.00 34 17 33.33 LOC101927765 0 genome.wustl.edu 37 1 234509179 234509179 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 234509179 234509179 G A SNP LOC101927765 ENST00000451795 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-827C21.4 Clone_based_vega_gene ENSG00000231663 tier1 - - 41 0 0.00 42 20 32.26 SUSD3 0 genome.wustl.edu 37 9 95831418 95831418 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 95831418 95831418 C T SNP SUSD3 ENST00000375469 human ensembl 74_37 +1 known missense c.37 p.P13S 0.009 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD3 HGNC ENSG00000157303 tier1 - - 47 0 0.00 32 31 49.21 ZNF319 0 genome.wustl.edu 37 16 58030805 58030805 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 58030805 58030805 C T SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known silent c.1365 p.E455 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 tier1 - - 13 0 0.00 13 5 27.78 TTBK1 0 genome.wustl.edu 37 6 43250565 43250565 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 43250565 43250565 G A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.2087 p.R696Q 0.996 NULL 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 TTBK1 HGNC ENSG00000146216 tier1 - - 38 0 0.00 37 31 45.59 UNC93B1 0 genome.wustl.edu 37 11 67766695 67766695 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 67766695 67766695 G A SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.635 p.S212F 1.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 tier1 - - 42 0 0.00 54 20 27.03 PCDH15 0 genome.wustl.edu 37 10 55583083 55583083 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 55583083 55583083 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.4403 p.G1468E 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 64 0 0.00 52 18 25.71 MTMR3 0 genome.wustl.edu 37 22 30418097 30418097 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 30418097 30418097 G A SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.3305 p.S1102N 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 - - 58 0 0.00 41 21 33.87 BEND3 0 genome.wustl.edu 37 6 107391312 107391312 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 107391312 107391312 C T SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known silent c.1083 p.E361 0.996 NULL pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 tier1 - - 24 0 0.00 29 13 30.95 CALCB 0 genome.wustl.edu 37 11 15098931 15098931 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 15098931 15098931 C T SNP CALCB ENST00000324229 human ensembl 74_37 +1 known silent c.324 p.F108 0.903 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCB HGNC ENSG00000175868 tier1 rs145827382 - 39 0 0.00 38 21 35.59 FAM135B 0 genome.wustl.edu 37 8 139164548 139164548 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 139164548 139164548 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.2170 p.H724Y 0.993 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 21 0 0.00 19 5 20.83 ABCC11 0 genome.wustl.edu 37 16 48234211 48234211 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 48234211 48234211 G A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known silent c.2058 p.V686 0.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 tier1 - - 61 0 0.00 53 14 20.90 LRTM2 0 genome.wustl.edu 37 12 1940156 1940156 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 1940156 1940156 C T SNP LRTM2 ENST00000299194 human ensembl 74_37 +1 known silent c.123 p.F41 0.168 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 tier1 - - 24 0 0.00 39 9 18.75 NMT2 0 genome.wustl.edu 37 10 15161401 15161401 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 15161401 15161401 C T SNP NMT2 ENST00000378165 human ensembl 74_37 -1 known missense c.1111 p.E371K 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 tier1 - - 106 0 0.00 92 42 31.34 POT1 0 genome.wustl.edu 37 7 124482955 124482955 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 124482955 124482955 G A SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.1069 p.P357S 1.000 NULL pfam_Telomer_end-bd_POT1/Cdc13,superfamily_-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 tier1 - - 94 0 0.00 92 40 30.30 MFSD9 0 genome.wustl.edu 37 2 103343434 103343434 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 103343434 103343434 C T SNP MFSD9 ENST00000258436 human ensembl 74_37 -1 known splice_site c.298-1 e4-1 1.000 - - - no_errors MFSD9 HGNC ENSG00000135953 tier1 - - 60 0 0.00 50 10 16.67 SOGA1 0 genome.wustl.edu 37 20 35443578 35443578 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 35443578 35443578 C T SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.2267 p.G756E 0.983 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 tier1 - - 48 0 0.00 52 28 35.00 GLI1 0 genome.wustl.edu 37 12 57859444 57859444 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 57859444 57859444 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.589 p.G197S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 - - 29 0 0.00 25 23 47.92 NUP188 0 genome.wustl.edu 37 9 131755834 131755834 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 131755834 131755834 C A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.2878 p.H960N 1.000 superfamily_ARM-type_fold pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 47 0 0.00 25 14 35.90 FGF18 0 genome.wustl.edu 37 5 170883570 170883570 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 170883570 170883570 T C SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known missense c.385 p.F129L 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 tier1 - - 50 0 0.00 44 17 27.87 PTPRR 0 genome.wustl.edu 37 12 71155319 71155319 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 71155319 71155319 G A SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known missense c.559 p.R187C 0.951 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 tier1 - - 96 0 0.00 69 39 36.11 VRK1 0 genome.wustl.edu 37 14 97313613 97313613 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 97313613 97313613 C T SNP VRK1 ENST00000216639 human ensembl 74_37 +1 known silent c.306 p.T102 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors VRK1 HGNC ENSG00000100749 tier1 - - 107 0 0.00 54 35 39.33 MTUS2 0 genome.wustl.edu 37 13 30062139 30062139 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 30062139 30062139 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known nonsense c.3532 p.Q1178* 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 33 0 0.00 19 4 16.00 FAM227B 0 genome.wustl.edu 37 15 49833903 49833903 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 49833903 49833903 C T SNP FAM227B ENST00000299338 human ensembl 74_37 -1 known missense c.848 p.G283E 0.745 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 tier1 - - 234 0 0.00 71 85 54.49 DTHD1 0 genome.wustl.edu 37 4 36317997 36317997 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 36317997 36317997 C T SNP DTHD1 ENST00000456874 human ensembl 74_37 +1 known silent c.1854 p.V618 0.003 NULL pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain - no_errors DTHD1 HGNC ENSG00000197057 tier1 - - 125 0 0.00 144 24 14.20 ANKRD35 0 genome.wustl.edu 37 1 145561829 145561829 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 145561829 145561829 A C SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.1517 p.K506T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 tier1 - - 48 0 0.00 60 31 34.07 TTLL9 0 genome.wustl.edu 37 20 30458924 30458924 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 30458924 30458924 G A SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.000 - - - no_errors TTLL9 HGNC ENSG00000131044 tier1 - - 31 0 0.00 22 10 31.25 CAC1C 0 genome.wustl.edu 37 12 2693781 2693781 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 2693781 2693781 C T SNP CAC1C ENST00000399634 human ensembl 74_37 +1 known silent c.2337 p.A779 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CAC1C HGNC ENSG00000151067 tier1 - - 65 0 0.00 31 23 42.59 PAM 0 genome.wustl.edu 37 5 102201875 102201875 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 102201875 102201875 C T SNP PAM ENST00000509523 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors PAM HGNC ENSG00000145730 tier1 - - 32 0 0.00 44 10 18.52 ABO 0 genome.wustl.edu 37 9 136131317 136131317 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 136131317 136131317 C T SNP ABO ENST00000453660 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ABO HGNC ENSG00000175164 tier1 - - 65 0 0.00 61 24 28.24 PRKACG 0 genome.wustl.edu 37 9 71628256 71628256 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 71628256 71628256 G A SNP PRKACG ENST00000377276 human ensembl 74_37 -1 known silent c.753 p.I251 0.998 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 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC ENSG00000165059 tier1 - - 16 0 0.00 9 7 43.75 CYSLTR2 0 genome.wustl.edu 37 13 49281074 49281074 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 49281074 49281074 T C SNP CYSLTR2 ENST00000282018 human ensembl 74_37 +1 known missense c.121 p.F41L 1.000 pfam_TAS2_rcpt,prints_GPCR_Rhodpsn,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt - no_errors CYSLTR2 HGNC ENSG00000152207 tier1 - - 57 0 0.00 41 7 14.58 C17orf76-AS1 0 genome.wustl.edu 37 17 16342250 16342250 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 16342250 16342250 C T SNP C17orf76-AS1 ENST00000584177 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 tier1 - - 10 0 0.00 7 13 65.00 SPANXD 0 genome.wustl.edu 37 X 140786496 140786496 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 140786496 140786496 C T SNP SPANXD ENST00000370515 human ensembl 74_37 -1 known missense c.67 p.E23K 0.004 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXD HGNC ENSG00000196406 tier1 - - 75 0 0.00 28 59 67.82 TTLL3 0 genome.wustl.edu 37 3 9876576 9876576 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 9876576 9876576 C T SNP TTLL3 ENST00000426895 human ensembl 74_37 +1 known silent c.2337 p.I779 0.154 NULL pfam_TTL/TTLL_fam - no_errors TTLL3 HGNC ENSG00000214021 tier1 - - 36 0 0.00 47 13 21.67 LINC00311 0 genome.wustl.edu 37 16 85316776 85316776 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 85316776 85316776 C T SNP LINC00311 ENST00000366314 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00311 HGNC ENSG00000179219 tier1 - - 65 0 0.00 27 49 64.47 TMEM108 0 genome.wustl.edu 37 3 133099029 133099029 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 133099029 133099029 C T SNP TMEM108 ENST00000321871 human ensembl 74_37 +1 known silent c.474 p.P158 0.000 NULL NULL - no_errors TMEM108 HGNC ENSG00000144868 tier1 - - 16 0 0.00 17 10 37.04 BEND4 0 genome.wustl.edu 37 4 42122234 42122234 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 42122234 42122234 C T SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known silent c.1224 p.K408 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 tier1 - - 30 0 0.00 28 20 41.67 SORL1 0 genome.wustl.edu 37 11 121478885 121478885 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 121478885 121478885 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.5239 p.V1747M 1.000 smart_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 95 0 0.00 84 39 31.71 ZNF234 0 genome.wustl.edu 37 19 44660468 44660468 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 44660468 44660468 G A SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known nonsense c.299 p.W100* 0.000 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 ZNF234 HGNC ENSG00000263002 tier1 - - 50 0 0.00 41 7 14.58 EIF4G1 0 genome.wustl.edu 37 3 184039474 184039474 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 184039474 184039474 G A SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.1123 p.E375K 0.995 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 tier1 - - 47 0 0.00 62 10 13.70 WLS 0 genome.wustl.edu 37 1 68616031 68616031 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 68616031 68616031 A G SNP WLS ENST00000540432 human ensembl 74_37 -1 known missense c.812 p.F271S 1.000 NULL NULL - no_errors WLS HGNC ENSG00000116729 tier1 - - 56 0 0.00 41 24 36.36 ADRA2C 0 genome.wustl.edu 37 4 3769700 3769700 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 3769700 3769700 G A SNP ADRA2C ENST00000330055 human ensembl 74_37 +1 known missense c.1367 p.R456K 1.000 prints_ADRA2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2C HGNC ENSG00000184160 tier1 - - 59 0 0.00 46 19 29.23 C6orf201 0 genome.wustl.edu 37 6 4087832 4087832 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 4087832 4087832 C T SNP C6orf201 ENST00000360378 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C6orf201 HGNC ENSG00000185689 tier1 - - 57 0 0.00 48 34 41.46 CELF5 0 genome.wustl.edu 37 19 3282380 3282380 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 3282380 3282380 C T SNP CELF5 ENST00000292672 human ensembl 74_37 +1 known missense c.923 p.T308I 0.012 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC ENSG00000161082 tier1 - - 24 0 0.00 31 7 18.42 GATAD2A 0 genome.wustl.edu 37 19 19612117 19612117 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 19612117 19612117 G A SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known silent c.1392 p.K464 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 tier1 - - 35 0 0.00 50 10 16.67 ENSG00000257494 0 genome.wustl.edu 37 12 112696565 112696565 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 112696565 112696565 C T SNP ENSG00000257494 ENST00000547401 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP3-521E19.2 Clone_based_vega_gene ENSG00000257494 tier1 - - 22 0 0.00 9 9 50.00 DVL1 0 genome.wustl.edu 37 1 1275689 1275689 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 1275689 1275689 G A SNP DVL1 ENST00000378888 human ensembl 74_37 -1 known missense c.707 p.S236F 1.000 superfamily_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 tier1 - - 57 0 0.00 39 27 40.91 ZNF862 0 genome.wustl.edu 37 7 149547268 149547268 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 149547268 149547268 C T SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known silent c.958 p.L320 0.173 NULL pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 tier1 - - 80 0 0.00 105 30 21.90 C2orf71 0 genome.wustl.edu 37 2 29295748 29295748 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 29295748 29295748 C T SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known silent c.1380 p.G460 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 tier1 - - 69 0 0.00 53 20 27.40 MN1 0 genome.wustl.edu 37 22 28147004 28147004 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 28147004 28147004 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.3862 p.D1288N 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 tier1 - - 45 0 0.00 35 19 35.19 CELSR2 0 genome.wustl.edu 37 1 109813237 109813250 + R DEL TCCCAGTCTTGGGG TCCCAGTCTTGGGG - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 TCCCAGTCTTGGGG TCCCAGTCTTGGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 109813237 109813250 TCCCAGTCTTGGGG - DEL CELSR2 ENST00000489018 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.000:0.000:0.024:0.003:0.001:0.000 - - - no_errors CELSR2 HGNC ENSG00000143126 tier1 CCDC108 0 genome.wustl.edu 37 2 219883821 219883821 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 219883821 219883821 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.3554 p.S1185F 0.957 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 tier1 - - 57 0 0.00 49 7 12.50 KCNH8 0 genome.wustl.edu 37 3 19575380 19575380 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 19575380 19575380 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.3113 p.S1038L 0.982 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tR-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 29 0 0.00 28 8 22.22 POTEF 0 genome.wustl.edu 37 2 130869582 130869582 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 130869582 130869582 C T SNP POTEF ENST00000357462 human ensembl 74_37 -1 known silent c.903 p.L301 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 tier1 - - 152 0 0.00 94 106 53.00 SEC16B 0 genome.wustl.edu 37 1 177930030 177930030 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 177930030 177930030 G A SNP SEC16B ENST00000308284 human ensembl 74_37 -1 known missense c.832 p.P278S 0.980 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 tier1 - - 66 0 0.00 68 19 21.84 ABO 0 genome.wustl.edu 37 9 136131470 136131470 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 136131470 136131470 G A SNP ABO ENST00000453660 human ensembl 74_37 -1 known rna NULL NULL 0.259 - - - no_errors ABO HGNC ENSG00000175164 tier1 - - 48 0 0.00 38 32 45.71 ZDHHC7 0 genome.wustl.edu 37 16 85010006 85010006 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 85010006 85010006 G A SNP ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known silent c.981 p.F327 0.991 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 tier1 - - 24 0 0.00 9 18 66.67 RABL3 0 genome.wustl.edu 37 3 120408645 120408645 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 120408645 120408645 C T SNP RABL3 ENST00000491398 human ensembl 74_37 -1 known rna NULL NULL 0.739 - - - no_errors RABL3 HGNC ENSG00000144840 tier1 - - 52 0 0.00 30 22 42.31 MBD3 0 genome.wustl.edu 37 19 1585070 1585070 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1585070 1585070 G A SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.254 p.S85F 0.911 superfamily_D-bd_dom pfam_Methyl_CpG_D-bd,superfamily_D-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd - no_errors MBD3 HGNC ENSG00000071655 tier1 - - 15 0 0.00 19 6 24.00 EIF4E1B 0 genome.wustl.edu 37 5 176070156 176070156 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 176070156 176070156 C T SNP EIF4E1B ENST00000318682 human ensembl 74_37 +1 known missense c.89 p.P30L 0.000 superfamily_TIF_eIF4e-like_dom pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E1B HGNC ENSG00000175766 tier1 - - 28 0 0.00 28 16 36.36 PDE4A 0 genome.wustl.edu 37 19 10577614 10577614 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 10577614 10577614 C T SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.1978 p.L660F 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 tier1 - - 48 0 0.00 31 10 24.39 USP6 0 genome.wustl.edu 37 17 5042392 5042392 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 5042392 5042392 C T SNP USP6 ENST00000304328 human ensembl 74_37 +1 known missense c.43 p.P15S 0.332 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 tier1 - - 81 0 0.00 90 12 11.76 CCT6B 0 genome.wustl.edu 37 17 33266335 33266335 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 33266335 33266335 G A SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known silent c.1080 p.F360 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 tier1 - - 74 0 0.00 46 30 39.47 PDE12 0 genome.wustl.edu 37 3 57543204 57543204 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 57543204 57543204 G A SNP PDE12 ENST00000311180 human ensembl 74_37 +1 known silent c.1098 p.E366 0.975 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors PDE12 HGNC ENSG00000174840 tier1 - - 33 0 0.00 38 18 32.14 HIVEP1 0 genome.wustl.edu 37 6 12164419 12164419 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 12164419 12164419 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.7882 p.D2628N 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 31 0 0.00 46 14 23.33 ENSG00000215023 0 genome.wustl.edu 37 2 242741144 242741144 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 242741144 242741144 G A SNP ENSG00000215023 ENST00000437438 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC114730.5 Clone_based_vega_gene ENSG00000215023 tier1 - - 17 0 0.00 9 9 50.00 PLEKHA7 0 genome.wustl.edu 37 11 16876516 16876516 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 16876516 16876516 G A SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known missense c.442 p.H148Y 1.000 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 tier1 - - 84 0 0.00 75 14 15.73 DHX8 0 genome.wustl.edu 37 17 41570931 41570931 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 41570931 41570931 G T SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.982 p.G328W 1.000 pfam_Rbsml_prot_S1_R-bd_dom,superfamily_-bd_OB-fold,smart_R-binding_domain_S1,pfscan_Rbsml_prot_S1_R-bd_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_R-bd_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_-bd_OB-fold,smart_R-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_R-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 tier1 - - 46 0 0.00 94 12 11.32 DIAPH2 0 genome.wustl.edu 37 X 96213056 96213056 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 96213056 96213056 C T SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.1844 p.P615L 0.173 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 tier1 - - 56 0 0.00 28 47 61.84 MASP1 0 genome.wustl.edu 37 3 186944248 186944248 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 186944248 186944248 G A SNP MASP1 ENST00000337774 human ensembl 74_37 -1 known missense c.1502 p.P501L 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 40 0 0.00 56 42 42.86 MARCO 0 genome.wustl.edu 37 2 119749371 119749371 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 119749371 119749371 G A SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.1127 p.G376E 0.998 pfam_Collagen pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 57 0 0.00 60 17 22.08 SLC4A10 0 genome.wustl.edu 37 2 162751303 162751303 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 162751303 162751303 C T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known nonsense c.1309 p.R437* 1.000 superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 tier1 - - 100 0 0.00 105 23 17.97 FAM71C 0 genome.wustl.edu 37 12 100042272 100042272 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 100042272 100042272 G A SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known missense c.320 p.R107K 0.000 NULL pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 tier1 - - 32 0 0.00 19 8 29.63 IKZF2 0 genome.wustl.edu 37 2 213878518 213878518 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 213878518 213878518 C T SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.853 p.V285M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 tier1 - - 100 0 0.00 87 18 17.14 WDR47 0 genome.wustl.edu 37 1 109560161 109560161 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 109560161 109560161 A G SNP WDR47 ENST00000400794 human ensembl 74_37 -1 known missense c.221 p.M74T 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 tier1 - - 46 0 0.00 36 4 10.00 INO80D 0 genome.wustl.edu 37 2 206921091 206921091 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 206921091 206921091 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known silent c.795 p.P265 0.995 NULL NULL - no_errors INO80D HGNC ENSG00000114933 tier1 - - 54 0 0.00 51 18 26.09 HNRNPD 0 genome.wustl.edu 37 4 83280730 83280730 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 83280730 83280730 G A SNP HNRNPD ENST00000313899 human ensembl 74_37 -1 known missense c.353 p.S118F 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPD HGNC ENSG00000138668 tier1 - - 45 0 0.00 35 23 39.66 IL1RN 0 genome.wustl.edu 37 2 113888656 113888656 + Silent SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 113888656 113888656 T A SNP IL1RN ENST00000259206 human ensembl 74_37 +1 known silent c.249 p.A83 0.000 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1 - no_errors IL1RN HGNC ENSG00000136689 tier1 - - 68 0 0.00 52 20 27.78 CKAP4 0 genome.wustl.edu 37 12 106633476 106633476 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 106633476 106633476 G A SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known nonsense c.1135 p.Q379* 0.785 superfamily_Tscrpt_elong_fac_GreA/B_N superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 tier1 - - 37 0 0.00 26 4 13.33 NSUN5P2 0 genome.wustl.edu 37 7 72419605 72419605 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 72419605 72419605 C T SNP NSUN5P2 ENST00000388955 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors NSUN5P2 HGNC ENSG00000106133 tier1 - - 59 0 0.00 70 31 30.69 HESX1 0 genome.wustl.edu 37 3 57232443 57232443 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 57232443 57232443 C T SNP HESX1 ENST00000295934 human ensembl 74_37 -1 known silent c.435 p.L145 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HESX1 HGNC ENSG00000163666 tier1 - - 122 0 0.00 47 45 48.91 AXL 0 genome.wustl.edu 37 19 41765783 41765783 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 41765783 41765783 G A SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.2659 p.A887T 0.971 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 tier1 - - 42 0 0.00 35 8 18.60 SH3TC1 0 genome.wustl.edu 37 4 8221204 8221204 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 8221204 8221204 C T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known silent c.1059 p.G353 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 tier1 - - 123 0 0.00 121 84 40.98 HIPK1 0 genome.wustl.edu 37 1 114483816 114483816 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 114483816 114483816 T C SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known silent c.811 p.L271 1.000 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 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 HIPK1 HGNC ENSG00000163349 tier1 - - 51 0 0.00 19 21 51.22 SEC16A 0 genome.wustl.edu 37 9 139347927 139347927 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 139347927 139347927 G A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.6112 p.L2038F 0.001 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 76 0 0.00 101 37 26.43 FAM120A 0 genome.wustl.edu 37 9 96318681 96318681 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 96318681 96318681 C T SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known silent c.2376 p.P792 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 tier1 - - 85 0 0.00 55 17 23.61 BCORL1 0 genome.wustl.edu 37 X 129148782 129148782 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 129148782 129148782 C T SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known silent c.2034 p.S678 0.965 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 tier1 - - 28 0 0.00 14 8 36.36 DUOX2 0 genome.wustl.edu 37 15 45386854 45386854 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 45386854 45386854 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known silent c.4431 p.N1477 1.000 pfam_Fe_red_D-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 tier1 - - 49 0 0.00 30 35 53.85 PRAMEF2 0 genome.wustl.edu 37 1 12919636 12919636 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 12919636 12919636 C T SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.376 p.P126S 0.000 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 tier1 - - 251 0 0.00 205 105 33.87 SLC25A13 0 genome.wustl.edu 37 7 95761192 95761192 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 95761192 95761192 C T SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.1457 p.G486D 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_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 tier1 - - 35 0 0.00 12 12 50.00 MYO3B 0 genome.wustl.edu 37 2 171319908 171319908 + Nonsense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 171319908 171319908 G T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known nonsense c.2788 p.E930* 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 tier1 - - 98 0 0.00 59 26 30.59 MAS1L 0 genome.wustl.edu 37 6 29455294 29455294 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 29455294 29455294 C T SNP MAS1L ENST00000377127 human ensembl 74_37 -1 known missense c.386 p.G129E 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 tier1 - - 37 0 0.00 54 14 20.29 SV2C 0 genome.wustl.edu 37 5 75505622 75505622 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 75505622 75505622 C T SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.823 p.R275W 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 tier1 rs139844012 GMAF=0.0005 35 0 0.00 82 19 18.81 TCEB3B 0 genome.wustl.edu 37 18 44559473 44559473 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 44559473 44559473 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.2163 p.A721 0.000 NULL pfam_R_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 rs192545475 GMAF=0.0005 45 0 0.00 42 13 23.64 ZNF512B 0 genome.wustl.edu 37 20 62591377 62591377 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 62591377 62591377 G A SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.2543 p.P848L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 tier1 - - 55 0 0.00 53 22 29.33 ELMO2 0 genome.wustl.edu 37 20 45002010 45002010 + R SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 45002010 45002010 G C SNP ELMO2 ENST00000462491 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ELMO2 HGNC ENSG00000062598 tier1 - - 50 0 0.00 41 23 35.94 CAC1E 0 genome.wustl.edu 37 1 181767913 181767913 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 181767913 181767913 G A SNP CAC1E ENST00000367573 human ensembl 74_37 +1 known missense c.6885 p.M2295I 0.971 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CAC1E HGNC ENSG00000198216 tier1 - - 37 0 0.00 39 8 17.02 OR52N2 0 genome.wustl.edu 37 11 5842312 5842312 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5842312 5842312 C T SNP OR52N2 ENST00000317037 human ensembl 74_37 +1 known silent c.747 p.S249 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N2 HGNC ENSG00000180988 tier1 - - 56 0 0.00 36 20 35.71 TECPR2 0 genome.wustl.edu 37 14 102900844 102900844 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 102900844 102900844 G A SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.1690 p.D564N 0.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 tier1 - - 43 0 0.00 9 15 62.50 CSMD3 0 genome.wustl.edu 37 8 113694682 113694682 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 113694682 113694682 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2666 p.P889L 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 CSMD3 HGNC ENSG00000164796 tier1 - - 83 0 0.00 64 17 20.99 HIVEP3 0 genome.wustl.edu 37 1 42048123 42048123 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 42048123 42048123 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.2346 p.S782 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 41 0 0.00 68 12 15.00 KALRN 0 genome.wustl.edu 37 3 124351509 124351509 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 124351509 124351509 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.5419 p.P1807S 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 43 0 0.00 66 10 13.16 ZNF644 0 genome.wustl.edu 37 1 91406145 91406145 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 91406145 91406145 C A SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.766 p.D256Y 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 tier1 - - 46 0 0.00 37 13 26.00 CHRM2 0 genome.wustl.edu 37 7 136699927 136699927 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 136699927 136699927 G A SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known silent c.315 p.V105 0.957 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 30 0 0.00 38 13 25.49 COL5A3 0 genome.wustl.edu 37 19 10103504 10103504 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 10103504 10103504 G A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.1847 p.P616L 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 20 0 0.00 34 22 39.29 PCLO 0 genome.wustl.edu 37 7 82584369 82584369 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 82584369 82584369 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.5900 p.G1967E 0.904 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 37 0 0.00 28 9 24.32 PZP 0 genome.wustl.edu 37 12 9305772 9305772 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 9305772 9305772 G A SNP PZP ENST00000261336 human ensembl 74_37 -1 known silent c.3942 p.L1314 0.008 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 79 0 0.00 68 13 16.05 PRR14L 0 genome.wustl.edu 37 22 32109158 32109158 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 32109158 32109158 G A SNP PRR14L ENST00000397493 human ensembl 74_37 -1 known missense c.4667 p.P1556L 0.009 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 tier1 - - 49 0 0.00 61 9 12.68 GUCA1C 0 genome.wustl.edu 37 3 108672518 108672518 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 108672518 108672518 G A SNP GUCA1C ENST00000261047 human ensembl 74_37 -1 known missense c.92 p.P31L 0.951 prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 tier1 - - 58 0 0.00 60 23 27.71 DTX2 0 genome.wustl.edu 37 7 76109854 76109854 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 76109854 76109854 G A SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known missense c.28 p.V10M 0.106 pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 tier1 - - 68 0 0.00 65 33 33.67 TEAD4 0 genome.wustl.edu 37 12 3147172 3147172 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 3147172 3147172 C T SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known silent c.936 p.S312 0.996 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 tier1 - - 42 0 0.00 31 23 42.59 DOPEY1 0 genome.wustl.edu 37 6 83832631 83832633 + In_Frame_Del DEL CTT CTT - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 83832631 83832633 CTT - DEL DOPEY1 ENST00000349129 human ensembl 74_37 +1 known in_frame_del c.1270_1272 p.L425in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 tier1 135 0 0.00 56 47 45.63 MUC17 0 genome.wustl.edu 37 7 100677806 100677806 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 100677806 100677806 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.3109 p.P1037S 0.060 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 86 0 0.00 86 38 30.65 MAPK7 0 genome.wustl.edu 37 17 19286474 19286474 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 19286474 19286474 C T SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known missense c.2381 p.S794F 1.000 NULL 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 MAPK7 HGNC ENSG00000166484 tier1 - - 33 0 0.00 41 32 43.24 KDELC1 0 genome.wustl.edu 37 13 103441370 103441370 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 103441370 103441370 C T SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.1285 p.D429N 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 tier1 - - 63 0 0.00 47 11 18.97 AQP8 0 genome.wustl.edu 37 16 25232850 25232850 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 25232850 25232850 C T SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known silent c.333 p.L111 0.216 pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 tier1 - - 46 0 0.00 40 24 37.50 MALAT1 0 genome.wustl.edu 37 11 65268243 65268243 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 65268243 65268243 C T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 104 0 0.00 83 45 35.16 UGDH 0 genome.wustl.edu 37 4 39515779 39515779 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 39515779 39515779 G A SNP UGDH ENST00000316423 human ensembl 74_37 -1 known missense c.188 p.S63F 1.000 pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 tier1 - - 80 0 0.00 80 40 33.33 HOXD1 0 genome.wustl.edu 37 2 177054551 177054551 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 177054551 177054551 A G SNP HOXD1 ENST00000331462 human ensembl 74_37 +1 known missense c.668 p.Y223C 0.993 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD1 HGNC ENSG00000128645 tier1 - - 51 0 0.00 25 25 50.00 GPR158 0 genome.wustl.edu 37 10 25887096 25887096 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 25887096 25887096 C T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.2541 p.S847 0.368 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 36 0 0.00 44 8 15.38 HBD 0 genome.wustl.edu 37 11 5255235 5255235 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5255235 5255235 G A SNP HBD ENST00000380299 human ensembl 74_37 -1 known missense c.301 p.P101S 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin - no_errors HBD HGNC ENSG00000223609 tier1 - - 69 0 0.00 127 19 13.01 CAND2 0 genome.wustl.edu 37 3 12858604 12858604 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 12858604 12858604 C T SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known nonsense c.2173 p.Q725* 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 tier1 - - 9 0 0.00 11 8 42.11 GPATCH8 0 genome.wustl.edu 37 17 42477239 42477239 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 42477239 42477239 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.2206 p.P736S 0.095 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 tier1 - - 24 0 0.00 17 8 32.00 KDM4B 0 genome.wustl.edu 37 19 5133995 5133995 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 5133995 5133995 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.2008 p.E670K 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 tier1 - - 86 0 0.00 61 34 35.79 CNBD2 0 genome.wustl.edu 37 20 34596372 34596372 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 34596372 34596372 C T SNP CNBD2 ENST00000373973 human ensembl 74_37 +1 known missense c.1124 p.P375L 0.969 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC ENSG00000149646 tier1 - - 32 0 0.00 48 16 25.00 C6orf25 0 genome.wustl.edu 37 6 31691544 31691544 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 31691544 31691544 C T SNP C6orf25 ENST00000375806 human ensembl 74_37 +1 known silent c.190 p.L64 0.954 NULL NULL - no_errors C6orf25 HGNC ENSG00000204420 tier1 - - 21 0 0.00 26 10 27.78 RNF130 0 genome.wustl.edu 37 5 179390555 179390555 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 179390555 179390555 A G SNP RNF130 ENST00000521389 human ensembl 74_37 -1 known missense c.1160 p.F387S 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF130 HGNC ENSG00000113269 tier1 - - 54 0 0.00 52 38 42.22 ATP8B2 0 genome.wustl.edu 37 1 154315647 154315647 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 154315647 154315647 G A SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known silent c.1611 p.R537 0.963 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 tier1 - - 15 0 0.00 16 9 34.62 ENSG00000234232 0 genome.wustl.edu 37 1 149649208 149649208 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 149649208 149649208 C T SNP ENSG00000234232 ENST00000608683 human ensembl 74_37 -1 known rna NULL NULL 0.976 - - - no_errors RP11-353N4.5 Clone_based_vega_gene ENSG00000234232 tier1 - - 15 0 0.00 7 4 36.36 ZBP1 0 genome.wustl.edu 37 20 56191429 56191429 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 56191429 56191429 C T SNP ZBP1 ENST00000343535 human ensembl 74_37 -1 known missense c.130 p.E44K 0.072 pfam_dsR_A_deaminase,smart_dsR_A_deaminase pfam_dsR_A_deaminase,smart_dsR_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 tier1 - - 61 0 0.00 74 13 14.94 ENSG00000269888 0 genome.wustl.edu 37 3 161147358 161147358 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 161147358 161147358 G A SNP ENSG00000269888 ENST00000602890 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-3P17.5 Clone_based_vega_gene ENSG00000269888 tier1 - - 95 0 0.00 81 18 18.18 BTLA 0 genome.wustl.edu 37 3 112198324 112198324 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 112198324 112198324 G C SNP BTLA ENST00000334529 human ensembl 74_37 -1 known missense c.381 p.H127Q 0.887 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors BTLA HGNC ENSG00000186265 tier1 - - 64 0 0.00 69 20 22.47 CYP4B1 0 genome.wustl.edu 37 1 47280766 47280766 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 47280766 47280766 G T SNP CYP4B1 ENST00000464439 human ensembl 74_37 +1 known missense c.830 p.C277F 1.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450 - no_errors CYP4B1 HGNC ENSG00000142973 tier1 - - 37 0 0.00 25 12 32.43 ANKRD13D 0 genome.wustl.edu 37 11 67059201 67059201 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 67059201 67059201 C T SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known silent c.525 p.F175 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 tier1 - - 40 0 0.00 27 16 37.21 OR11H1 0 genome.wustl.edu 37 22 16449127 16449127 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 16449127 16449127 G A SNP OR11H1 ENST00000252835 human ensembl 74_37 -1 known silent c.678 p.F226 0.051 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 tier1 - - 90 0 0.00 79 38 32.48 NKTR 0 genome.wustl.edu 37 3 42675116 42675116 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 42675116 42675116 C T SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.818 p.S273F 0.030 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 tier1 - - 79 0 0.00 82 33 28.70 ENSG00000267688 0 genome.wustl.edu 37 19 3122116 3122116 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 3122116 3122116 C T SNP ENSG00000267688 ENST00000585980 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC005262.2 Clone_based_vega_gene ENSG00000267688 tier1 - - 31 0 0.00 34 10 22.73 PA 0 genome.wustl.edu 37 19 47999982 47999982 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 47999982 47999982 G A SNP PA ENST00000593785 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors PA HGNC ENSG00000105402 tier1 - - 24 0 0.00 25 7 21.88 PCDH9 0 genome.wustl.edu 37 13 67802372 67802372 + Silent SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 67802372 67802372 A T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.201 p.V67 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 48 0 0.00 44 12 21.43 TRPC4 0 genome.wustl.edu 37 13 38266464 38266464 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 38266464 38266464 G A SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known silent c.906 p.A302 0.998 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 tier1 - - 19 0 0.00 15 11 42.31 STK40 0 genome.wustl.edu 37 1 36824356 36824356 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 36824356 36824356 A T SNP STK40 ENST00000373130 human ensembl 74_37 -1 known missense c.195 p.D65E 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 STK40 HGNC ENSG00000196182 tier1 - - 21 0 0.00 20 14 41.18 EXOC6B 0 genome.wustl.edu 37 2 72692418 72692418 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 72692418 72692418 C T SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known silent c.1851 p.K617 1.000 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 tier1 - - 100 0 0.00 73 26 26.26 NOX1 0 genome.wustl.edu 37 X 100104375 100104375 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 100104375 100104375 G A SNP NOX1 ENST00000372966 human ensembl 74_37 -1 known missense c.1337 p.S446F 1.000 pfam_Fe_red_D-bd_6 pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 tier1 - - 46 0 0.00 20 29 59.18 SIPA1L3 0 genome.wustl.edu 37 19 38655169 38655169 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38655169 38655169 C G SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.3831 p.N1277K 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 tier1 - - 57 0 0.00 38 34 47.22 ABCA2 0 genome.wustl.edu 37 9 139904588 139904588 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 139904588 139904588 G A SNP ABCA2 ENST00000437791 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 18 0 0.00 18 9 33.33 CEP68 0 genome.wustl.edu 37 2 65301556 65301556 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 65301556 65301556 C T SNP CEP68 ENST00000497039 human ensembl 74_37 +1 known rna NULL NULL 0.557 - - - no_errors CEP68 HGNC ENSG00000011523 tier1 - - 61 0 0.00 69 37 34.91 ZNF233 0 genome.wustl.edu 37 19 44778226 44778226 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 44778226 44778226 G A SNP ZNF233 ENST00000391958 human ensembl 74_37 +1 known silent c.1413 p.Q471 0.950 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 ZNF233 HGNC ENSG00000159915 tier1 - - 43 0 0.00 52 13 20.00 ZNF695 0 genome.wustl.edu 37 1 247109044 247109044 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 247109044 247109044 G A SNP ZNF695 ENST00000498046 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF695 HGNC ENSG00000197472 tier1 - - 39 0 0.00 50 13 20.63 PILRB 0 genome.wustl.edu 37 7 99955901 99955901 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 99955901 99955901 C T SNP PILRB ENST00000448382 human ensembl 74_37 +1 known silent c.342 p.P114 0.000 NULL NULL - no_errors PILRB HGNC ENSG00000121716 tier1 - - 146 0 0.00 179 32 15.17 PAH 0 genome.wustl.edu 37 12 103237521 103237521 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 103237521 103237521 C T SNP PAH ENST00000553106 human ensembl 74_37 -1 known missense c.1102 p.E368K 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 tier1 - - 48 0 0.00 39 5 11.36 GALNT8 0 genome.wustl.edu 37 12 4835976 4835976 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 4835976 4835976 C T SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known missense c.490 p.P164S 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 tier1 - - 49 0 0.00 44 35 44.30 LSM11 0 genome.wustl.edu 37 5 157178427 157178427 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 157178427 157178427 C T SNP LSM11 ENST00000286307 human ensembl 74_37 +1 known missense c.478 p.H160Y 0.990 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 - - 59 0 0.00 63 34 35.05 CSMD1 0 genome.wustl.edu 37 8 2976057 2976057 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 2976057 2976057 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.6297 p.M2099I 0.946 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 tier1 - - 99 0 0.00 95 11 10.38 ACBD6 0 genome.wustl.edu 37 1 180257560 180257560 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 180257560 180257560 C T SNP ACBD6 ENST00000367595 human ensembl 74_37 -1 known missense c.787 p.E263K 1.000 NULL pfam_Acyl-CoA-binding_protein,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl-CoA-binding_protein,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Acyl-CoA-binding_protein,prints_Ankyrin_rpt - no_errors ACBD6 HGNC ENSG00000135847 tier1 - - 33 0 0.00 26 14 35.00 YY2 0 genome.wustl.edu 37 X 21875571 21875571 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 21875571 21875571 C T SNP YY2 ENST00000429584 human ensembl 74_37 +1 known silent c.969 p.S323 0.988 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 tier1 - - 19 0 0.00 13 20 60.61 IL32 0 genome.wustl.edu 37 16 3118197 3118197 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 3118197 3118197 G A SNP IL32 ENST00000396890 human ensembl 74_37 +1 known missense c.296 p.G99D 0.000 NULL NULL - no_errors IL32 HGNC ENSG00000008517 tier1 - - 30 0 0.00 29 9 23.68 KRT20 0 genome.wustl.edu 37 17 39032616 39032616 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 39032616 39032616 G A SNP KRT20 ENST00000167588 human ensembl 74_37 -1 known silent c.1272 p.I424 0.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 tier1 - - 59 0 0.00 53 8 13.11 TMEM245 0 genome.wustl.edu 37 9 111881966 111881966 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 111881966 111881966 G A SNP TMEM245 ENST00000374586 human ensembl 74_37 -1 known silent c.228 p.I76 1.000 NULL pfam_UPF0118 - no_errors TMEM245 HGNC ENSG00000106771 tier1 - - 12 0 0.00 16 4 20.00 HSPB8 0 genome.wustl.edu 37 12 119631631 119631631 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 119631631 119631631 C T SNP HSPB8 ENST00000281938 human ensembl 74_37 +1 known missense c.559 p.P187S 1.000 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB8 HGNC ENSG00000152137 tier1 - - 71 0 0.00 74 21 22.11 AXDND1 0 genome.wustl.edu 37 1 179399630 179399630 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 179399630 179399630 G A SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known nonsense c.1376 p.W459* 0.993 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 tier1 - - 83 0 0.00 51 41 44.57 SYNE1 0 genome.wustl.edu 37 6 152570314 152570314 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 152570314 152570314 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.19554 p.P6518 0.192 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 65 0 0.00 85 9 9.57 RP1L1 0 genome.wustl.edu 37 8 10480423 10480423 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 10480423 10480423 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.289 p.E97K 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 106 0 0.00 83 13 13.54 MYBPC3 0 genome.wustl.edu 37 11 47353736 47353736 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 47353736 47353736 C T SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.3701 p.G1234E 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 47 0 0.00 50 22 30.56 AGT 0 genome.wustl.edu 37 1 230839074 230839074 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 230839074 230839074 A C SNP AGT ENST00000366667 human ensembl 74_37 -1 known missense c.1271 p.V424G 0.999 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 tier1 - - 54 0 0.00 54 12 18.18 LIG4 0 genome.wustl.edu 37 13 108863299 108863299 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 108863299 108863299 G A SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known silent c.318 p.A106 0.093 pfam_D_ligase_ATP-dep_N,superfamily_D_ligase_ATP-dep_N,tigrfam_D_ligase_ATP-dep pfam_D_ligase_ATP-dep_cent,pfam_D_ligase_ATP-dep_N,pfam_D_ligase_IV,pfam_BRCT_dom,pfam_D_ligase_ATP-dep_C,superfamily_-bd_OB-fold,superfamily_BRCT_dom,superfamily_D_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_D_ligase_ATP-dep_cent,tigrfam_D_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 tier1 - - 50 0 0.00 22 10 31.25 SOGA2 0 genome.wustl.edu 37 18 8825819 8825819 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 8825819 8825819 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.4311 p.T1437 1.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 92 0 0.00 45 27 37.50 ZCCHC5 0 genome.wustl.edu 37 X 77913318 77913318 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 77913318 77913318 G A SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known silent c.600 p.F200 0.562 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 62 0 0.00 50 31 38.27 DH9 0 genome.wustl.edu 37 17 11672548 11672548 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 11672548 11672548 C T SNP DH9 ENST00000262442 human ensembl 74_37 +1 known missense c.7454 p.S2485L 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH9 HGNC ENSG00000007174 tier1 - - 28 0 0.00 38 12 24.00 YKT6 0 genome.wustl.edu 37 7 44244232 44244232 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 44244232 44244232 C T SNP YKT6 ENST00000223369 human ensembl 74_37 +1 known missense c.170 p.A57V 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin - no_errors YKT6 HGNC ENSG00000106636 tier1 - - 64 0 0.00 98 12 10.91 XIRP1 0 genome.wustl.edu 37 3 39230562 39230562 + Silent SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 39230562 39230562 G T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known silent c.375 p.A125 0.991 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 tier1 - - 47 0 0.00 45 21 31.82 CAND1 0 genome.wustl.edu 37 12 67686409 67686409 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 67686409 67686409 C T SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.220 p.P74S 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 tier1 - - 54 0 0.00 58 6 9.38 KCTD8 0 genome.wustl.edu 37 4 44176909 44176909 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 44176909 44176909 C T SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.1320 p.M440I 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 tier1 - - 68 0 0.00 49 21 29.58 MUC16 0 genome.wustl.edu 37 19 9060452 9060452 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 9060452 9060452 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.26994 p.S8998 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 30 0 0.00 19 9 32.14 ZNF234 0 genome.wustl.edu 37 19 44660469 44660469 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 44660469 44660469 G A SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known nonsense c.300 p.W100* 0.000 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 ZNF234 HGNC ENSG00000263002 tier1 - - 51 0 0.00 41 7 14.58 ZDHHC23 0 genome.wustl.edu 37 3 113679598 113679598 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 113679598 113679598 C T SNP ZDHHC23 ENST00000488129 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors ZDHHC23 HGNC ENSG00000184307 tier1 - - 60 0 0.00 49 22 30.99 EYS 0 genome.wustl.edu 37 6 64694463 64694463 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 64694463 64694463 G A SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.6868 p.P2290S 0.034 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 103 0 0.00 85 11 11.46 FAM222B 0 genome.wustl.edu 37 17 27086287 27086287 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 27086287 27086287 G A SNP FAM222B ENST00000341217 human ensembl 74_37 -1 known silent c.690 p.G230 1.000 NULL NULL - no_errors FAM222B HGNC ENSG00000173065 tier1 - - 47 0 0.00 41 29 41.43 TBATA 0 genome.wustl.edu 37 10 72531982 72531982 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 72531982 72531982 C T SNP TBATA ENST00000394982 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TBATA HGNC ENSG00000166220 tier1 - - 74 0 0.00 48 11 18.64 ATRN 0 genome.wustl.edu 37 20 3542927 3542927 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 3542927 3542927 G A SNP ATRN ENST00000262919 human ensembl 74_37 +1 known silent c.1452 p.K484 0.872 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 tier1 - - 73 0 0.00 61 38 38.38 ZNF462 0 genome.wustl.edu 37 9 109701298 109701298 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 109701298 109701298 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.6517 p.P2173S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 tier1 - - 55 0 0.00 59 18 23.38 EEPD1 0 genome.wustl.edu 37 7 36338743 36338743 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 36338743 36338743 G A SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known silent c.1638 p.K546 1.000 superfamily_Endo/exonuclease/phosphatase pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_D-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 tier1 - - 58 0 0.00 53 18 25.35 FOXS1 0 genome.wustl.edu 37 20 30432509 30432509 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 30432509 30432509 G A SNP FOXS1 ENST00000375978 human ensembl 74_37 -1 known silent c.837 p.P279 0.620 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXS1 HGNC ENSG00000179772 tier1 - - 40 0 0.00 41 13 24.07 MID1 0 genome.wustl.edu 37 X 10535288 10535288 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 10535288 10535288 G A SNP MID1 ENST00000317552 human ensembl 74_37 -1 known silent c.300 p.T100 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 tier1 - - 17 0 0.00 8 29 78.38 DGCR5 0 genome.wustl.edu 37 22 18981942 18981942 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 18981942 18981942 C T SNP DGCR5 ENST00000438934 human ensembl 74_37 +1 known rna NULL NULL 0.808 - - - no_errors DGCR5 HGNC ENSG00000237517 tier1 - - 37 0 0.00 41 9 18.00 ASS1 0 genome.wustl.edu 37 9 133355185 133355185 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 133355185 133355185 C T SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known silent c.771 p.V257 0.815 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 tier1 - - 43 0 0.00 41 26 38.81 G11 0 genome.wustl.edu 37 19 3094703 3094703 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 3094703 3094703 C T SNP G11 ENST00000078429 human ensembl 74_37 +1 known silent c.54 p.S18 1.000 pfam_Gprotein_alpha_su,prints_Gprotein_alpha_Q pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha - no_errors G11 HGNC ENSG00000088256 tier1 - - 17 0 0.00 19 20 51.28 FAM171A1 0 genome.wustl.edu 37 10 15255778 15255778 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 15255778 15255778 G A SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known silent c.1809 p.V603 0.847 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 tier1 - - 45 0 0.00 46 18 28.12 SOCS3 0 genome.wustl.edu 37 17 76355018 76355018 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 76355018 76355018 G A SNP SOCS3 ENST00000330871 human ensembl 74_37 -1 known silent c.159 p.G53 0.997 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC ENSG00000184557 tier1 - - 41 0 0.00 54 33 37.50 GALNT8 0 genome.wustl.edu 37 12 4923696 4923696 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 4923696 4923696 T C SNP GALNT8 ENST00000541339 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GALNT8 HGNC ENSG00000130035 tier1 - - 24 0 0.00 25 8 24.24 LILRB2 0 genome.wustl.edu 37 19 54783794 54783794 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 54783794 54783794 C T SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known nonsense c.207 p.W69* 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 tier1 - - 38 0 0.00 36 6 14.29 NRDE2 0 genome.wustl.edu 37 14 90769430 90769430 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 90769430 90769430 C T SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.1045 p.E349K 0.870 pfam_NRDE-2 pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 tier1 - - 28 0 0.00 6 16 72.73 PRRC2A 0 genome.wustl.edu 37 6 31603452 31603452 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 31603452 31603452 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.5467 p.P1823S 0.995 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 32 0 0.00 31 18 36.73 MYLPF 0 genome.wustl.edu 37 16 30387802 30387802 + Silent SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30387802 30387802 C A SNP MYLPF ENST00000322861 human ensembl 74_37 +1 known silent c.231 p.P77 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYLPF HGNC ENSG00000180209 tier1 - - 49 0 0.00 35 23 39.66 C20orf26 0 genome.wustl.edu 37 20 20051575 20051575 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 20051575 20051575 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.221 p.P74L 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 tier1 - - 47 0 0.00 43 23 34.85 CAC1I 0 genome.wustl.edu 37 22 40073417 40073417 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 40073417 40073417 G A SNP CAC1I ENST00000336649 human ensembl 74_37 +1 known silent c.4944 p.G1648 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CAC1I HGNC ENSG00000100346 tier1 - - 14 0 0.00 16 8 33.33 PEX5 0 genome.wustl.edu 37 12 7362788 7362788 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 7362788 7362788 C T SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known missense c.1934 p.T645I 0.960 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 tier1 - - 36 0 0.00 29 4 12.12 PFDN2 0 genome.wustl.edu 37 1 161087837 161087837 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 161087837 161087837 C T SNP PFDN2 ENST00000468311 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PFDN2 HGNC ENSG00000143256 tier1 - - 27 0 0.00 20 14 41.18 IQGAP1 0 genome.wustl.edu 37 15 91027562 91027562 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 91027562 91027562 G A SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.3899 p.G1300D 1.000 superfamily_Rho_GTPase_activation_prot,smart_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 tier1 - - 84 0 0.00 28 33 54.10 PHACTR2 0 genome.wustl.edu 37 6 144033200 144033200 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 144033200 144033200 G A SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.94 p.A32T 0.025 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 tier1 - - 108 0 0.00 121 20 14.18 DPP6 0 genome.wustl.edu 37 7 154677385 154677385 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 154677385 154677385 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2176 p.G726R 0.601 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 60 0 0.00 47 31 39.24 GABRE 0 genome.wustl.edu 37 X 151123028 151123028 + R SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 151123028 151123028 C A SNP GABRE ENST00000483564 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GABRE HGNC ENSG00000102287 tier1 - - 18 0 0.00 6 17 73.91 PCNXL2 0 genome.wustl.edu 37 1 233134994 233134994 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 233134994 233134994 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known silent c.5460 p.S1820 1.000 pfam_Pecanex pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 - - 111 0 0.00 115 44 27.67 HARS 0 genome.wustl.edu 37 5 140056691 140056691 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140056691 140056691 G A SNP HARS ENST00000504156 human ensembl 74_37 -1 known silent c.834 p.S278 0.972 pirsf_HisRS/HisZ,pfscan_aa-tR-synth_II,tigrfam_His-tR-ligase pfam_aa-tR-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_R-bd,pirsf_HisRS/HisZ,pfscan_aa-tR-synth_II,pfscan_WHEP-TRS,tigrfam_His-tR-ligase - no_errors HARS HGNC ENSG00000170445 tier1 - - 16 0 0.00 23 8 25.00 OR4E2 0 genome.wustl.edu 37 14 22133537 22133537 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 22133537 22133537 A G SNP OR4E2 ENST00000408935 human ensembl 74_37 +1 known missense c.241 p.M81V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4E2 HGNC ENSG00000221977 tier1 - - 52 0 0.00 40 15 27.27 CLASP2 0 genome.wustl.edu 37 3 33614734 33614734 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 33614734 33614734 C T SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.2591 p.S864N 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 tier1 - - 34 0 0.00 18 11 37.93 C16orf54 0 genome.wustl.edu 37 16 29756041 29756041 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 29756041 29756041 C T SNP C16orf54 ENST00000329410 human ensembl 74_37 -1 known missense c.232 p.G78R 1.000 NULL NULL - no_errors C16orf54 HGNC ENSG00000185905 tier1 - - 41 0 0.00 46 24 34.29 CORO7-PAM16 0 genome.wustl.edu 37 16 4458230 4458230 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 4458230 4458230 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known silent c.255 p.F85 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 tier1 - - 83 0 0.00 93 45 32.37 ZEB1 0 genome.wustl.edu 37 10 31810575 31810575 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 31810575 31810575 C T SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.2315 p.S772F 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 tier1 - - 54 0 0.00 38 26 40.62 BMP6 0 genome.wustl.edu 37 6 7845455 7845455 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 7845455 7845455 G T SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.747 p.E249D 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 tier1 - - 99 0 0.00 91 26 22.22 ZNF804B 0 genome.wustl.edu 37 7 88964800 88964800 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 88964800 88964800 C T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2504 p.S835F 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 61 0 0.00 48 18 27.27 GSTM3 0 genome.wustl.edu 37 1 110280033 110280033 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 110280033 110280033 G A SNP GSTM3 ENST00000476321 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GSTM3 HGNC ENSG00000134202 tier1 - - 33 0 0.00 24 7 22.58 ZDHHC11 0 genome.wustl.edu 37 5 843755 843755 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 843755 843755 G A SNP ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known silent c.588 p.L196 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 tier1 rs140537102 - 256 0 0.00 347 46 11.70 SPAG11B 0 genome.wustl.edu 37 8 7308314 7308314 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 7308314 7308314 G A SNP SPAG11B ENST00000398462 human ensembl 74_37 -1 known missense c.323 p.P108L 0.995 pfam_Defensin_beta-typ pfam_Sperm_Ag_HE2,pfam_Defensin_beta-typ - no_errors SPAG11B HGNC ENSG00000164871 tier1 - - 72 0 0.00 86 14 14.00 C20orf24 0 genome.wustl.edu 37 20 35234409 35234409 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 35234409 35234409 G A SNP C20orf24 ENST00000373852 human ensembl 74_37 +1 known missense c.55 p.A19T 1.000 NULL NULL - no_errors C20orf24 HGNC ENSG00000101084 tier1 - - 58 0 0.00 66 45 40.54 ARAP2 0 genome.wustl.edu 37 4 36134863 36134863 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 36134863 36134863 A T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.3412 p.F1138I 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 56 0 0.00 64 29 31.18 DMGDH 0 genome.wustl.edu 37 5 78340285 78340285 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 78340285 78340285 G A SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known missense c.836 p.S279F 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 tier1 - - 88 0 0.00 68 26 27.66 FAM184B 0 genome.wustl.edu 37 4 17666185 17666185 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 17666185 17666185 C T SNP FAM184B ENST00000265018 human ensembl 74_37 -1 known missense c.1694 p.R565K 1.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 tier1 - - 30 0 0.00 35 17 32.69 MROH7-TTC4 0 genome.wustl.edu 37 1 55136211 55136211 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 55136211 55136211 C T SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known silent c.1431 p.S477 0.001 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 tier1 - - 55 0 0.00 74 33 30.84 PTER 0 genome.wustl.edu 37 10 16526508 16526508 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 16526508 16526508 C T SNP PTER ENST00000298942 human ensembl 74_37 +1 known missense c.125 p.P42L 0.392 pfam_Aryldialkylphosphatase pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 tier1 rs141767754 - 75 0 0.00 66 25 27.47 CAC2D3 0 genome.wustl.edu 37 3 54604049 54604049 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 54604049 54604049 G A SNP CAC2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.806 p.G269E 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CAC2D3 HGNC ENSG00000157445 tier1 - - 53 0 0.00 45 32 41.56 EGFR 0 genome.wustl.edu 37 7 55242452 55242452 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 55242452 55242452 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.2222 p.P741L 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 tier1 - - 65 0 0.00 40 34 45.95 OR6C1 0 genome.wustl.edu 37 12 55715280 55715280 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 55715280 55715280 C A SNP OR6C1 ENST00000379668 human ensembl 74_37 +1 known missense c.897 p.F299L 0.160 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC ENSG00000205330 tier1 - - 58 0 0.00 31 37 54.41 RLN2 0 genome.wustl.edu 37 9 5300362 5300362 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 5300362 5300362 C T SNP RLN2 ENST00000381627 human ensembl 74_37 -1 known silent c.294 p.L98 0.003 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN2 HGNC ENSG00000107014 tier1 - - 37 0 0.00 12 17 58.62 ANGPTL2 0 genome.wustl.edu 37 9 129854204 129854204 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 129854204 129854204 T C SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known missense c.1027 p.I343V 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 tier1 - - 52 0 0.00 44 24 35.29 C4BPA 0 genome.wustl.edu 37 1 207317960 207317960 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 207317960 207317960 T C SNP C4BPA ENST00000367070 human ensembl 74_37 +1 known silent c.1692 p.D564 0.056 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPA HGNC ENSG00000123838 tier1 - - 66 0 0.00 117 15 11.36 PPP1R15A 0 genome.wustl.edu 37 19 49376799 49376799 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 49376799 49376799 C T SNP PPP1R15A ENST00000200453 human ensembl 74_37 +1 known silent c.309 p.S103 0.001 NULL pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15A HGNC ENSG00000087074 tier1 - - 71 0 0.00 38 41 51.90 TBC1D13 0 genome.wustl.edu 37 9 131554812 131554812 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 131554812 131554812 C T SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known silent c.342 p.F114 1.000 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 tier1 - - 55 0 0.00 57 17 22.97 DDX21 0 genome.wustl.edu 37 10 70719689 70719689 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 70719689 70719689 C T SNP DDX21 ENST00000354185 human ensembl 74_37 +1 known missense c.215 p.P72L 1.000 NULL pfam_D/R_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 DDX21 HGNC ENSG00000165732 tier1 - - 56 0 0.00 43 8 15.69 R3HDM1 0 genome.wustl.edu 37 2 136418864 136418864 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 136418864 136418864 G A SNP R3HDM1 ENST00000264160 human ensembl 74_37 +1 known missense c.1948 p.G650S 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 tier1 - - 65 0 0.00 49 23 31.94 GLIS3 0 genome.wustl.edu 37 9 3828338 3828338 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 3828338 3828338 G A SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.2727 p.T909 0.005 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 tier1 - - 59 0 0.00 34 30 46.88 CDH9 0 genome.wustl.edu 37 5 26903850 26903850 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 26903850 26903850 C T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.895 p.E299K 0.022 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 69 0 0.00 44 17 27.87 FFAR1 0 genome.wustl.edu 37 19 35843211 35843211 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 35843211 35843211 C T SNP FFAR1 ENST00000246553 human ensembl 74_37 +1 known silent c.757 p.L253 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA,prints_GPR40-rel_orph,prints_GPCR_Rhodpsn - no_errors FFAR1 HGNC ENSG00000126266 tier1 - - 42 0 0.00 28 17 37.78 HYDIN 0 genome.wustl.edu 37 16 70942261 70942261 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 70942261 70942261 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.8290 p.G2764R 0.972 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 56 0 0.00 32 35 52.24 SH3D21 0 genome.wustl.edu 37 1 36784742 36784742 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 36784742 36784742 C T SNP SH3D21 ENST00000453908 human ensembl 74_37 +1 known silent c.840 p.A280 0.001 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 tier1 - - 50 0 0.00 45 12 21.05 PHLDB1 0 genome.wustl.edu 37 11 118499010 118499010 + Silent SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 118499010 118499010 C A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known silent c.1471 p.R491 0.700 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 tier1 - - 72 0 0.00 72 39 35.14 LILRB2 0 genome.wustl.edu 37 19 54783672 54783672 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 54783672 54783672 C A SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known missense c.329 p.S110I 0.873 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 tier1 - - 49 0 0.00 57 25 30.49 OR4C46 0 genome.wustl.edu 37 11 51515577 51515577 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 51515577 51515577 T A SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.296 p.V99D 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 tier1 - - 52 0 0.00 65 34 34.34 OR2A7 0 genome.wustl.edu 37 7 143956673 143956673 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 143956673 143956673 G A SNP OR2A7 ENST00000493325 human ensembl 74_37 -1 known missense c.49 p.P17S 0.247 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A7 HGNC ENSG00000243896 tier1 - - 354 0 0.00 413 74 15.20 CAMKV 0 genome.wustl.edu 37 3 49898674 49898674 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49898674 49898674 G A SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known silent c.501 p.F167 1.000 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 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 CAMKV HGNC ENSG00000164076 tier1 - - 84 0 0.00 73 30 29.13 101928757 0 genome.wustl.edu 37 10 17921739 17921739 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 17921739 17921739 G A SNP 101928757 ENST00000331429 human ensembl 74_37 +1 novel missense c.2625 p.M875I 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 tier1 - - 23 0 0.00 9 15 62.50 RYR1 0 genome.wustl.edu 37 19 39034458 39034458 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 39034458 39034458 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known nonsense c.11955 p.W3985* 1.000 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 25 0 0.00 20 7 25.93 RYR2 0 genome.wustl.edu 37 1 237955546 237955546 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 237955546 237955546 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.13723 p.E4575K 1.000 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 30 0 0.00 30 22 42.31 SIRPB2 0 genome.wustl.edu 37 20 1460520 1460520 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 1460520 1460520 G A SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known silent c.276 p.F92 0.978 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 tier1 - - 69 0 0.00 77 25 24.51 ENSG00000260973 0 genome.wustl.edu 37 16 22623111 22623111 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 22623111 22623111 G A SNP ENSG00000260973 ENST00000567401 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors RP11-105C19.2 Clone_based_vega_gene ENSG00000260973 tier1 - - 47 0 0.00 42 7 14.29 PHLDB2 0 genome.wustl.edu 37 3 111604348 111604348 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 111604348 111604348 G A SNP PHLDB2 ENST00000478922 human ensembl 74_37 +1 putative missense c.1424 p.G475E 0.003 NULL NULL - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 45 0 0.00 56 22 28.21 GMEB1 0 genome.wustl.edu 37 1 29041478 29041478 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 29041478 29041478 C T SNP GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.042 - - - no_errors GMEB1 HGNC ENSG00000162419 tier1 - - 107 0 0.00 84 35 29.41 C6orf201 0 genome.wustl.edu 37 6 4087831 4087831 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 4087831 4087831 C T SNP C6orf201 ENST00000360378 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C6orf201 HGNC ENSG00000185689 tier1 - - 58 0 0.00 48 34 41.46 CNTN4 0 genome.wustl.edu 37 3 3097885 3097885 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 3097885 3097885 C T SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.3062 p.T1021I 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 tier1 - - 80 0 0.00 57 29 33.72 CAMP 0 genome.wustl.edu 37 3 48266856 48266856 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 48266856 48266856 G A SNP CAMP ENST00000296435 human ensembl 74_37 +1 known missense c.464 p.R155K 0.000 pfam_Cathlecidin_C pfam_Cathelicidin,pfam_Cathlecidin_C - no_errors CAMP HGNC ENSG00000164047 tier1 - - 108 0 0.00 85 51 37.50 USP35 0 genome.wustl.edu 37 11 77921522 77921522 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 77921522 77921522 C A SNP USP35 ENST00000529308 human ensembl 74_37 +1 known missense c.2621 p.P874H 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 tier1 - - 28 0 0.00 41 19 31.15 MYH14 0 genome.wustl.edu 37 19 50735285 50735285 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 50735285 50735285 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.1072 p.E358K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 66 0 0.00 53 13 19.70 SIGIRR 0 genome.wustl.edu 37 11 405994 405994 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 405994 405994 C T SNP SIGIRR ENST00000382520 human ensembl 74_37 -1 known missense c.1424 p.R475K 0.213 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors SIGIRR HGNC ENSG00000185187 tier1 - - 71 0 0.00 56 24 30.00 SRRM1 0 genome.wustl.edu 37 1 24996032 24996032 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 24996032 24996032 C T SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.2194 p.P732S 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 tier1 - - 21 0 0.00 15 11 42.31 STIL 0 genome.wustl.edu 37 1 47717309 47717309 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 47717309 47717309 T A SNP STIL ENST00000371877 human ensembl 74_37 -1 known missense c.3366 p.K1122N 1.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 tier1 - - 72 0 0.00 55 30 35.29 ZNF831 0 genome.wustl.edu 37 20 57769273 57769273 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 57769273 57769273 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.3199 p.D1067N 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 49 0 0.00 71 14 16.47 ZSCAN20 0 genome.wustl.edu 37 1 33960531 33960531 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 33960531 33960531 C T SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.2587 p.P863S 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 tier1 - - 43 0 0.00 67 28 29.47 HSPH1 0 genome.wustl.edu 37 13 31736211 31736211 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 31736211 31736211 G A SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known silent c.21 p.L7 0.003 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 tier1 - - 53 0 0.00 40 12 23.08 OR5T2 0 genome.wustl.edu 37 11 56000262 56000262 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 56000262 56000262 G A SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.400 p.L134F 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 45 0 0.00 33 18 34.62 CLEC4E 0 genome.wustl.edu 37 12 8687363 8687363 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 8687363 8687363 C T SNP CLEC4E ENST00000299663 human ensembl 74_37 -1 known silent c.531 p.E177 0.988 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4E HGNC ENSG00000166523 tier1 - - 39 0 0.00 18 17 48.57 HMG20B 0 genome.wustl.edu 37 19 3574083 3574083 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 3574083 3574083 C T SNP HMG20B ENST00000585741 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HMG20B HGNC ENSG00000064961 tier1 - - 12 0 0.00 5 5 50.00 SRPK1 0 genome.wustl.edu 37 6 35838094 35838094 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 35838094 35838094 C T SNP SRPK1 ENST00000373825 human ensembl 74_37 -1 known missense c.955 p.E319K 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 SRPK1 HGNC ENSG00000096063 tier1 - - 52 0 0.00 35 9 20.45 C16orf91 0 genome.wustl.edu 37 16 1470542 1470542 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 1470542 1470542 C G SNP C16orf91 ENST00000310355 human ensembl 74_37 -1 known missense c.575 p.R192P 0.000 NULL prints_CCSMST1 - no_errors C16orf91 HGNC ENSG00000174109 tier1 - - 41 0 0.00 37 27 42.19 TTN 0 genome.wustl.edu 37 2 179463272 179463272 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179463272 179463272 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.49368 p.I16456 0.258 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 - - 49 0 0.00 29 23 44.23 ABCA3 0 genome.wustl.edu 37 16 2374521 2374521 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 2374521 2374521 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.331 p.P111S 0.947 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 tier1 - - 21 0 0.00 36 7 15.91 CYP4A22 0 genome.wustl.edu 37 1 47610344 47610344 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 47610344 47610344 C T SNP CYP4A22 ENST00000371891 human ensembl 74_37 +1 known silent c.1020 p.H340 0.477 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 tier1 - - 41 0 0.00 46 8 14.81 ZNF512 0 genome.wustl.edu 37 2 27840415 27840415 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 27840415 27840415 C T SNP ZNF512 ENST00000355467 human ensembl 74_37 +1 known missense c.1372 p.H458Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512 HGNC ENSG00000243943 tier1 - - 105 0 0.00 96 23 19.33 FKBP9 0 genome.wustl.edu 37 7 33016063 33016063 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 33016063 33016063 C A SNP FKBP9 ENST00000538336 human ensembl 74_37 +1 known missense c.814 p.R272S 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 tier1 - - 81 0 0.00 83 26 23.85 ZIC2 0 genome.wustl.edu 37 13 100635185 100635185 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 100635185 100635185 G A SNP ZIC2 ENST00000376335 human ensembl 74_37 +1 known silent c.867 p.V289 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 tier1 - - 41 0 0.00 18 11 36.67 KIAA1211 0 genome.wustl.edu 37 4 57189570 57189570 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 57189570 57189570 C T SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.3215 p.S1072F 1.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 64 0 0.00 63 21 25.00 C12orf55 0 genome.wustl.edu 37 12 96883615 96883615 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 96883615 96883615 G A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative silent c.228 p.E76 0.966 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 138 0 0.00 118 40 25.32 ANKRD34C 0 genome.wustl.edu 37 15 79586497 79586497 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 79586497 79586497 C T SNP ANKRD34C ENST00000421388 human ensembl 74_37 +1 known missense c.871 p.P291S 0.113 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34C HGNC ENSG00000235711 tier1 - - 21 0 0.00 9 7 43.75 SLC17A6 0 genome.wustl.edu 37 11 22391619 22391619 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 22391619 22391619 C T SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.926 p.S309F 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 48 0 0.00 69 18 20.69 KRT4 0 genome.wustl.edu 37 12 53207481 53207481 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 53207481 53207481 G A SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known missense c.584 p.P195L 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 tier1 - - 60 0 0.00 69 17 19.77 MYO7B 0 genome.wustl.edu 37 2 128342362 128342362 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 128342362 128342362 C T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.1564 p.L522F 0.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 26 0 0.00 26 8 23.53 TRPM8 0 genome.wustl.edu 37 2 234891740 234891740 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 234891740 234891740 T G SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.2633 p.M878R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 tier1 - - 31 0 0.00 25 7 21.88 LOC100505502 0 genome.wustl.edu 37 10 31652674 31652674 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 31652674 31652674 C T SNP LOC100505502 ENST00000359888 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors RP11-192P3.5 Clone_based_vega_gene ENSG00000196960 tier1 - - 136 0 0.00 140 41 22.65 MRPS27 0 genome.wustl.edu 37 5 71616096 71616096 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 71616096 71616096 G A SNP MRPS27 ENST00000506957 human ensembl 74_37 -1 known rna NULL NULL 0.125 - - - no_errors MRPS27 HGNC ENSG00000113048 tier1 - - 51 0 0.00 64 42 39.25 VTN 0 genome.wustl.edu 37 17 26695641 26695641 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 26695641 26695641 C G SNP VTN ENST00000226218 human ensembl 74_37 -1 known missense c.880 p.E294Q 0.983 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000109072 tier1 - - 23 0 0.00 25 19 43.18 EEFSEC 0 genome.wustl.edu 37 3 127981042 127981042 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 127981042 127981042 C T SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.596 p.P199L 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 tier1 - - 35 0 0.00 38 19 33.33 PRDM9 0 genome.wustl.edu 37 5 23526341 23526341 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 23526341 23526341 G A SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known splice_site c.1145-1 e10-1 0.488 - - - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 78 0 0.00 104 13 11.11 HYDIN 0 genome.wustl.edu 37 16 70977834 70977834 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 70977834 70977834 G A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.6550 p.P2184S 0.179 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 25 0 0.00 7 7 50.00 KIAA1984 0 genome.wustl.edu 37 9 139698970 139698970 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 139698970 139698970 G A SNP KIAA1984 ENST00000338005 human ensembl 74_37 +1 known missense c.683 p.R228K 0.006 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 tier1 - - 24 0 0.00 37 18 32.73 TJAP1 0 genome.wustl.edu 37 6 43472881 43472881 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 43472881 43472881 C T SNP TJAP1 ENST00000372445 human ensembl 74_37 +1 known missense c.962 p.P321L 0.977 NULL NULL - no_errors TJAP1 HGNC ENSG00000137221 tier1 - - 57 0 0.00 50 36 41.86 SETD1A 0 genome.wustl.edu 37 16 30977488 30977488 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30977488 30977488 C T SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known silent c.2286 p.S762 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 SETD1A HGNC ENSG00000099381 tier1 - - 18 0 0.00 24 14 36.84 BPTF 0 genome.wustl.edu 37 17 65862671 65862671 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 65862671 65862671 G A SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.1528 p.D510N 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 tier1 - - 77 0 0.00 48 29 37.66 NLRP7 0 genome.wustl.edu 37 19 55450872 55450872 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 55450872 55450872 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.1399 p.G467R 0.011 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 tier1 - - 35 0 0.00 30 14 31.82 SMARCAD1 0 genome.wustl.edu 37 4 95194791 95194791 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 95194791 95194791 C T SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known silent c.1596 p.A532 0.935 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 tier1 - - 69 0 0.00 61 32 34.41 CYP27C1 0 genome.wustl.edu 37 2 127957113 127957113 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 127957113 127957113 G T SNP CYP27C1 ENST00000335247 human ensembl 74_37 -1 known missense c.391 p.Q131K 0.992 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27C1 HGNC ENSG00000186684 tier1 - - 53 0 0.00 50 8 13.79 ZNF551 0 genome.wustl.edu 37 19 58198800 58198800 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 58198800 58198800 C T SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.1157 p.S386F 1.000 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 ZNF551 HGNC ENSG00000204519 tier1 - - 55 0 0.00 28 30 51.72 GRM6 0 genome.wustl.edu 37 5 178413706 178413706 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 178413706 178413706 G A SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.1549 p.L517 1.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 tier1 rs145771507 - 28 0 0.00 23 15 39.47 R3HDM1 0 genome.wustl.edu 37 2 136418865 136418865 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 136418865 136418865 G A SNP R3HDM1 ENST00000264160 human ensembl 74_37 +1 known missense c.1949 p.G650D 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 tier1 - - 66 0 0.00 48 22 30.14 CD163L1 0 genome.wustl.edu 37 12 7556137 7556137 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 7556137 7556137 A G SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.1402 p.C468R 0.969 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 tier1 - - 26 0 0.00 12 9 42.86 TRMT10A 0 genome.wustl.edu 37 4 100480405 100480405 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 100480405 100480405 G A SNP TRMT10A ENST00000273962 human ensembl 74_37 -1 known missense c.91 p.P31S 0.083 pirsf_tR_MeTfrase_TRM10 pfam_tR_m1G_MeTrfase,pirsf_tR_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 tier1 - - 68 0 0.00 54 21 28.00 CD163 0 genome.wustl.edu 37 12 7640459 7640459 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 7640459 7640459 C T SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1645 p.G549R 0.998 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 66 0 0.00 51 12 19.05 MGLL 0 genome.wustl.edu 37 3 127434382 127434382 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 127434382 127434382 C T SNP MGLL ENST00000479967 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MGLL HGNC ENSG00000074416 tier1 - - 22 0 0.00 11 8 42.11 RBM33 0 genome.wustl.edu 37 7 155473578 155473578 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 155473578 155473578 C T SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known silent c.543 p.I181 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 tier1 - - 41 0 0.00 42 20 32.26 ZNF90 0 genome.wustl.edu 37 19 20228946 20228946 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 20228946 20228946 C T SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known missense c.583 p.H195Y 0.974 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 ZNF90 HGNC ENSG00000213988 tier1 - - 53 0 0.00 56 13 18.84 OTOF 0 genome.wustl.edu 37 2 26697461 26697461 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 26697461 26697461 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3208 p.P1070S 1.000 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 45 0 0.00 39 25 39.06 SEC14L1 0 genome.wustl.edu 37 17 75186902 75186902 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 75186902 75186902 C T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known silent c.81 p.F27 0.998 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 tier1 - - 41 0 0.00 46 27 36.99 ZNF763 0 genome.wustl.edu 37 19 12087855 12087855 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 12087855 12087855 C T SNP ZNF763 ENST00000591441 human ensembl 74_37 +1 known missense c.164 p.T55I 0.167 NULL NULL - no_errors ZNF763 Uniprot_gn ENSG00000267179 tier1 - - 148 0 0.00 123 31 20.13 ZNF232 0 genome.wustl.edu 37 17 5009422 5009422 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 5009422 5009422 T C SNP ZNF232 ENST00000250076 human ensembl 74_37 -1 known silent c.1032 p.S344 0.907 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ENSG00000167840 tier1 - - 63 0 0.00 63 20 24.10 ENSG00000187812 0 genome.wustl.edu 37 15 76074645 76074645 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 76074645 76074645 C T SNP ENSG00000187812 ENST00000395215 human ensembl 74_37 +1 known rna NULL NULL 0.391 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 tier1 - - 201 0 0.00 61 75 55.15 MLC1 0 genome.wustl.edu 37 22 50506973 50506973 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 50506973 50506973 C T SNP MLC1 ENST00000311597 human ensembl 74_37 -1 known silent c.783 p.L261 1.000 NULL NULL - no_errors MLC1 HGNC ENSG00000100427 tier1 - - 67 0 0.00 68 19 21.84 ZHX1 0 genome.wustl.edu 37 8 124268229 124268229 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 124268229 124268229 C T SNP ZHX1 ENST00000522595 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZHX1 HGNC ENSG00000165156 tier1 - - 39 0 0.00 52 25 32.47 TXNRD1 0 genome.wustl.edu 37 12 104714905 104714905 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 104714905 104714905 G A SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known silent c.1026 p.K342 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_D-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/D-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 46 0 0.00 32 11 25.58 SH3RF2 0 genome.wustl.edu 37 5 145439745 145439745 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 145439745 145439745 C T SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known silent c.1872 p.S624 0.032 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 rs142977207 - 112 0 0.00 120 53 30.64 ADAM6 0 genome.wustl.edu 37 14 106437810 106437810 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 106437810 106437810 C T SNP ADAM6 ENST00000452053 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors ADAM6 HGNC ENSG00000233988 tier1 - - 51 0 0.00 26 28 51.85 HBG1 0 genome.wustl.edu 37 11 5269676 5269676 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5269676 5269676 G A SNP HBG1 ENST00000330597 human ensembl 74_37 -1 known silent c.357 p.F119 0.003 superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG1 HGNC ENSG00000213934 tier1 - - 64 0 0.00 116 15 11.45 ADORA3 0 genome.wustl.edu 37 1 112045802 112045802 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 112045802 112045802 T C SNP ADORA3 ENST00000369716 human ensembl 74_37 -1 known missense c.175 p.I59V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 tier1 - - 44 0 0.00 52 21 28.77 SRPX 0 genome.wustl.edu 37 X 38033465 38033465 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 38033465 38033465 G A SNP SRPX ENST00000378533 human ensembl 74_37 -1 known silent c.297 p.S99 0.855 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 tier1 - - 28 0 0.00 15 36 70.59 SLC6A17 0 genome.wustl.edu 37 1 110709708 110709708 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 110709708 110709708 G A SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.157 p.E53K 0.997 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 tier1 - - 28 0 0.00 35 12 25.53 TTLL10-AS1 0 genome.wustl.edu 37 1 1111580 1111580 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 1111580 1111580 G A SNP TTLL10-AS1 ENST00000379317 human ensembl 74_37 -1 known rna NULL NULL 0.942 - - - no_errors TTLL10-AS1 HGNC ENSG00000205231 tier1 - - 93 0 0.00 112 38 25.33 RTTN 0 genome.wustl.edu 37 18 67727140 67727140 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 67727140 67727140 G A SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.4886 p.P1629L 0.698 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 tier1 - - 73 0 0.00 30 36 54.55 ENSG00000263887 0 genome.wustl.edu 37 17 60374341 60374341 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 60374341 60374341 G A SNP ENSG00000263887 ENST00000602493 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51L5.5 Clone_based_vega_gene ENSG00000263887 tier1 - - 110 0 0.00 102 46 30.87 POLQ 0 genome.wustl.edu 37 3 121207016 121207016 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 121207016 121207016 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.4762 p.P1588S 0.010 NULL pfam_D-dir_D_pol_A_palm_dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_D-dir_D_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_D_polymerase_A - no_errors POLQ HGNC ENSG00000051341 tier1 - - 31 0 0.00 20 5 20.00 ABCD3 0 genome.wustl.edu 37 1 94939328 94939328 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 94939328 94939328 C T SNP ABCD3 ENST00000454898 human ensembl 74_37 +1 known silent c.414 p.I138 1.000 pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 tier1 - - 80 0 0.00 77 22 22.22 TNK2 0 genome.wustl.edu 37 3 195611736 195611736 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 195611736 195611736 C T SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.592 p.G198S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 tier1 - - 60 0 0.00 59 28 32.18 DSE1L2 0 genome.wustl.edu 37 16 2287477 2287477 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 2287477 2287477 G T SNP DSE1L2 ENST00000320700 human ensembl 74_37 +1 known missense c.418 p.G140C 0.884 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DSE1L2 HGNC ENSG00000167968 tier1 - - 12 0 0.00 11 6 35.29 CHAF1B 0 genome.wustl.edu 37 21 37771813 37771813 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 37771813 37771813 C T SNP CHAF1B ENST00000481458 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CHAF1B HGNC ENSG00000159259 tier1 - - 63 0 0.00 48 22 31.43 KIF18B 0 genome.wustl.edu 37 17 43013578 43013578 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 43013578 43013578 G A SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known silent c.135 p.P45 0.197 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 tier1 - - 88 0 0.00 130 18 12.16 SUOX 0 genome.wustl.edu 37 12 56397910 56397910 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 56397910 56397910 C T SNP SUOX ENST00000266971 human ensembl 74_37 +1 known missense c.737 p.S246F 0.992 pfam_OxRdtase_Mopterin-bd_dom,superfamily_OxRdtase_Mopterin-bd_dom pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd - no_errors SUOX HGNC ENSG00000139531 tier1 - - 52 0 0.00 27 16 37.21 KIF1A 0 genome.wustl.edu 37 2 241710470 241710470 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 241710470 241710470 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.1259 p.S420F 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 34 0 0.00 37 18 32.73 CYP2F1 0 genome.wustl.edu 37 19 41626324 41626324 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 41626324 41626324 G A SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.407 p.G136E 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 tier1 - - 57 0 0.00 43 11 20.37 ZDHHC6 0 genome.wustl.edu 37 10 114194076 114194076 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 114194076 114194076 G A SNP ZDHHC6 ENST00000369405 human ensembl 74_37 -1 known silent c.882 p.G294 0.999 NULL pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC6 HGNC ENSG00000023041 tier1 - - 96 0 0.00 55 25 31.25 PPEF2 0 genome.wustl.edu 37 4 76808020 76808020 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 76808020 76808020 G A SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known silent c.564 p.I188 0.998 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 tier1 - - 82 0 0.00 61 33 35.11 CCDC67 0 genome.wustl.edu 37 11 93088656 93088656 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 93088656 93088656 G A SNP CCDC67 ENST00000298050 human ensembl 74_37 +1 known missense c.149 p.R50Q 1.000 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 tier1 rs201277348 - 58 0 0.00 51 8 13.56 SLC9A3R2 0 genome.wustl.edu 37 16 2086401 2086401 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 2086401 2086401 A G SNP SLC9A3R2 ENST00000424542 human ensembl 74_37 +1 known missense c.491 p.N164S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R2 HGNC ENSG00000065054 tier1 - - 86 0 0.00 147 68 31.63 MUSK 0 genome.wustl.edu 37 9 113459746 113459746 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 113459746 113459746 G A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.628 p.V210I 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 tier1 - - 59 0 0.00 77 29 27.36 DH8 0 genome.wustl.edu 37 6 38749101 38749101 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 38749101 38749101 G A SNP DH8 ENST00000359357 human ensembl 74_37 +1 known nonsense c.1560 p.W520* 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH8 HGNC ENSG00000124721 tier1 - - 67 0 0.00 42 35 44.30 VWA3B 0 genome.wustl.edu 37 2 98804437 98804437 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 98804437 98804437 G A SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known splice_site c.1312-1 e9-1 1.000 - - - no_errors VWA3B HGNC ENSG00000168658 tier1 - - 67 0 0.00 55 27 32.93 GPX8 0 genome.wustl.edu 37 5 54456138 54456138 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 54456138 54456138 C T SNP GPX8 ENST00000503787 human ensembl 74_37 +1 known missense c.118 p.L40F 0.996 pirsf_Glutathione_peroxidase pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 - no_errors GPX8 HGNC ENSG00000164294 tier1 - - 67 0 0.00 37 27 42.19 PDP1 0 genome.wustl.edu 37 8 94934287 94934287 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 94934287 94934287 C T SNP PDP1 ENST00000396200 human ensembl 74_37 +1 known silent c.75 p.A25 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP1 HGNC ENSG00000164951 tier1 - - 35 0 0.00 21 15 41.67 SPANXN2 0 genome.wustl.edu 37 X 142795316 142795316 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 142795316 142795316 G A SNP SPANXN2 ENST00000370498 human ensembl 74_37 -1 known missense c.362 p.S121F 0.003 NULL pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 tier1 - - 84 0 0.00 63 11 14.86 TMPRSS15 0 genome.wustl.edu 37 21 19698792 19698792 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 19698792 19698792 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.1878 p.G626 0.590 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 65 0 0.00 70 37 34.58 ARHGEF3 0 genome.wustl.edu 37 3 56807784 56807784 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 56807784 56807784 G A SNP ARHGEF3 ENST00000338458 human ensembl 74_37 -1 known missense c.253 p.P85S 0.999 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 tier1 - - 114 0 0.00 97 53 35.10 RYR2 0 genome.wustl.edu 37 1 237819277 237819277 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 237819277 237819277 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.8116 p.T2706A 1.000 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 37 0 0.00 29 27 48.21 KRTAP19-5 0 genome.wustl.edu 37 21 31874326 31874326 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 31874326 31874326 C G SNP KRTAP19-5 ENST00000334151 human ensembl 74_37 -1 known missense c.83 p.G28A 0.943 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-5 HGNC ENSG00000186977 tier1 - - 103 0 0.00 104 46 30.67 ARHGEF6 0 genome.wustl.edu 37 X 135757223 135757223 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 135757223 135757223 G A SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.1978 p.L660F 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 tier1 - - 40 0 0.00 12 37 75.51 TEP1 0 genome.wustl.edu 37 14 20848597 20848597 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 20848597 20848597 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known silent c.4800 p.E1600 0.816 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_CHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 tier1 - - 68 0 0.00 34 40 54.05 PCLO 0 genome.wustl.edu 37 7 82586232 82586232 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 82586232 82586232 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.4037 p.S1346L 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 36 0 0.00 42 25 37.31 SRRM2 0 genome.wustl.edu 37 16 2806482 2806482 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 2806482 2806482 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.117 p.E39 1.000 NULL pfam_mR_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 142 0 0.00 169 84 33.20 UHRF1BP1 0 genome.wustl.edu 37 6 34803228 34803228 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 34803228 34803228 C T SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.827 p.P276L 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 tier1 - - 52 0 0.00 37 12 24.49 CTSD 0 genome.wustl.edu 37 11 1778663 1778663 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 1778663 1778663 G A SNP CTSD ENST00000236671 human ensembl 74_37 -1 known silent c.595 p.L199 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 tier1 - - 36 0 0.00 31 21 40.38 FBXO42 0 genome.wustl.edu 37 1 16578032 16578032 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 16578032 16578032 G A SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known silent c.1287 p.S429 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 tier1 - - 32 0 0.00 28 11 28.21 SCN10A 0 genome.wustl.edu 37 3 38835268 38835268 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 38835268 38835268 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.234 p.P78 0.834 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 39 0 0.00 71 9 11.25 CCNYL2 0 genome.wustl.edu 37 10 42905627 42905627 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 42905627 42905627 C T SNP CCNYL2 ENST00000483242 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CCNYL2 HGNC ENSG00000182632 tier1 - - 30 0 0.00 36 9 20.00 AQP5 0 genome.wustl.edu 37 12 50355888 50355888 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 50355888 50355888 G A SNP AQP5 ENST00000293599 human ensembl 74_37 +1 known missense c.88 p.G30S 0.997 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 tier1 rs139623970 - 75 0 0.00 58 26 30.95 MAP2K6 0 genome.wustl.edu 37 17 67519705 67519705 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 67519705 67519705 T A SNP MAP2K6 ENST00000590474 human ensembl 74_37 +1 known missense c.586 p.C196S 1.000 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 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 MAP2K6 HGNC ENSG00000108984 tier1 - - 55 0 0.00 47 16 25.40 NFASC 0 genome.wustl.edu 37 1 204953288 204953288 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 204953288 204953288 G A SNP NFASC ENST00000471392 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 42 0 0.00 28 42 60.00 ENSG00000224113 0 genome.wustl.edu 37 17 33336005 33336011 + R DEL CAAACTC CAAACTC - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 CAAACTC CAAACTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 33336005 33336011 CAAACTC - DEL ENSG00000224113 ENST00000578488 human ensembl 74_37 +1 known rna NULL NULL 0.108:0.111:0.111:0.111:0.108:0.104:0.098 - - - no_errors RP5-837J1.2 Clone_based_vega_gene ENSG00000224113 tier1 TAF1 0 genome.wustl.edu 37 X 70595092 70595092 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 70595092 70595092 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.488 p.P163L 0.965 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 tier1 - - 86 0 0.00 27 64 70.33 PTPRG-AS1 0 genome.wustl.edu 37 3 62278334 62278334 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 62278334 62278334 G A SNP PTPRG-AS1 ENST00000475371 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTPRG-AS1 HGNC ENSG00000241472 tier1 - - 16 0 0.00 10 6 37.50 UTRN 0 genome.wustl.edu 37 6 144758851 144758851 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 144758851 144758851 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.1210 p.L404F 0.994 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,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 - - 108 0 0.00 101 59 36.42 CYP8B1 0 genome.wustl.edu 37 3 42897886 42897886 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 42897886 42897886 C T SNP CYP8B1 ENST00000437102 human ensembl 74_37 -1 novel missense c.1425 p.M475I 0.008 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 tier1 - - 84 0 0.00 76 40 34.48 TBC1D5 0 genome.wustl.edu 37 3 17448008 17448008 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 17448008 17448008 C T SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known missense c.178 p.E60K 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 tier1 - - 49 0 0.00 44 7 13.73 ZKSCAN2 0 genome.wustl.edu 37 16 25255458 25255458 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 25255458 25255458 G A SNP ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known silent c.1629 p.F543 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 tier1 - - 44 0 0.00 53 21 28.38 KIAA0556 0 genome.wustl.edu 37 16 27761019 27761019 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 27761019 27761019 G T SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.2738 p.R913L 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 tier1 - - 27 0 0.00 42 7 14.29 ZBTB20 0 genome.wustl.edu 37 3 114069530 114069530 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 114069530 114069530 G A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known silent c.1395 p.S465 0.803 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 tier1 - - 29 0 0.00 33 11 25.00 MYO18A 0 genome.wustl.edu 37 17 27414025 27414025 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 27414025 27414025 G A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.5641 p.R1881W 0.998 superfamily_Regulat_G_prot_signal_superfam pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 tier1 - - 17 0 0.00 21 6 22.22 ADNP 0 genome.wustl.edu 37 20 49510023 49510023 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 49510023 49510023 G A SNP ADNP ENST00000349014 human ensembl 74_37 -1 known missense c.1228 p.P410S 0.726 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 tier1 - - 60 0 0.00 60 40 40.00 SDCBP2 0 genome.wustl.edu 37 20 1299017 1299017 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 1299017 1299017 G A SNP SDCBP2 ENST00000339987 human ensembl 74_37 -1 known missense c.170 p.S57F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 tier1 - - 15 0 0.00 18 9 33.33 VCAN 0 genome.wustl.edu 37 5 82876460 82876460 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 82876460 82876460 G A SNP VCAN ENST00000513016 human ensembl 74_37 +1 known rna NULL NULL 0.380 - - - no_errors VCAN HGNC ENSG00000038427 tier1 - - 49 0 0.00 41 16 28.07 DCLK2 0 genome.wustl.edu 37 4 151153862 151153862 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 151153862 151153862 C T SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.1499 p.S500L 1.000 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 pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 tier1 - - 52 0 0.00 43 18 29.51 SGSM1 0 genome.wustl.edu 37 22 25251313 25251313 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 25251313 25251313 C T SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known silent c.585 p.P195 0.987 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 tier1 - - 26 0 0.00 23 11 32.35 PLX4 0 genome.wustl.edu 37 7 132070006 132070006 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 132070006 132070006 G A SNP PLX4 ENST00000423507 human ensembl 74_37 -1 known nonsense c.1420 p.R474* 0.000 smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom - no_errors PLX4 HGNC ENSG00000221866 tier1 - - 42 0 0.00 37 23 38.33 DHX8 0 genome.wustl.edu 37 17 41571141 41571141 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 41571141 41571141 C T SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.1099 p.P367S 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_R-bd_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_-bd_OB-fold,smart_R-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_R-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 tier1 - - 133 0 0.00 120 31 20.53 AP5Z1 0 genome.wustl.edu 37 7 4820926 4820926 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 4820926 4820926 C T SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known silent c.162 p.A54 1.000 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 tier1 - - 42 0 0.00 43 22 33.85 PCDHGA10 0 genome.wustl.edu 37 5 140794683 140794683 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140794683 140794683 A G SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known silent c.1941 p.V647 1.000 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 PCDHGA10 HGNC ENSG00000253846 tier1 - - 66 0 0.00 67 27 28.72 PCDHGB3 0 genome.wustl.edu 37 5 140750452 140750452 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140750452 140750452 T A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.491 p.V164D 0.000 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 PCDHGB3 HGNC ENSG00000262209 tier1 - - 50 0 0.00 51 25 32.89 SUSD5 0 genome.wustl.edu 37 3 33194381 33194381 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 33194381 33194381 G A SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known silent c.1743 p.T581 0.004 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 tier1 rs112313653 - 33 0 0.00 25 18 41.86 GNGT1 0 genome.wustl.edu 37 7 93538820 93538820 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 93538820 93538820 A C SNP GNGT1 ENST00000428834 human ensembl 74_37 +1 putative missense c.122 p.Q41P 0.001 NULL superfamily_G-protein_gamma-like_dom - no_errors GNGT1 HGNC ENSG00000127928 tier1 - - 92 0 0.00 72 59 45.04 SRRM2 0 genome.wustl.edu 37 16 2817350 2817350 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 2817350 2817350 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.6821 p.R2274K 1.000 NULL pfam_mR_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 32 0 0.00 30 9 23.08 SF3B2 0 genome.wustl.edu 37 11 65826321 65826321 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 65826321 65826321 C T SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known silent c.987 p.N329 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 tier1 - - 67 0 0.00 74 42 36.21 KIAA0368 0 genome.wustl.edu 37 9 114213754 114213754 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 114213754 114213754 G A SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.638 p.P213L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 tier1 - - 99 0 0.00 61 38 38.38 CREG2 0 genome.wustl.edu 37 2 102000094 102000094 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 102000094 102000094 G A SNP CREG2 ENST00000324768 human ensembl 74_37 -1 known missense c.512 p.P171L 1.000 superfamily_Split_barrel_FMN-bd,pirsf_CREG superfamily_Split_barrel_FMN-bd,pirsf_CREG - no_errors CREG2 HGNC ENSG00000175874 tier1 - - 75 0 0.00 45 28 37.84 PCDHB7 0 genome.wustl.edu 37 5 140554454 140554454 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140554454 140554454 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known nonsense c.2038 p.Q680* 0.014 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 rs143161042 - 82 0 0.00 120 32 21.05 TPTE 0 genome.wustl.edu 37 21 10916410 10916410 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 10916410 10916410 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known silent c.1236 p.R412 0.001 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 383 0 0.00 439 69 13.53 DPF2 0 genome.wustl.edu 37 11 65108975 65108975 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 65108975 65108975 C T SNP DPF2 ENST00000528416 human ensembl 74_37 +1 known missense c.407 p.P136L 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF2 HGNC ENSG00000133884 tier1 - - 59 0 0.00 73 35 32.41 DYNC1I1 0 genome.wustl.edu 37 7 95657551 95657551 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 95657551 95657551 C T SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known missense c.1085 p.S362L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 tier1 - - 51 0 0.00 72 21 22.58 SPTBN4 0 genome.wustl.edu 37 19 41063225 41063225 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 41063225 41063225 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known silent c.5586 p.T1862 0.009 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 65 0 0.00 32 45 57.69 VAV2 0 genome.wustl.edu 37 9 136634550 136634550 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 136634550 136634550 G A SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.2423 p.P808L 1.000 superfamily_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,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_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 tier1 - - 56 0 0.00 48 32 40.00 BIRC6 0 genome.wustl.edu 37 2 32774387 32774387 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 32774387 32774387 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.12983 p.A4328V 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 75 0 0.00 58 24 29.27 SNCAIP 0 genome.wustl.edu 37 5 121786794 121786794 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 121786794 121786794 C T SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.2393 p.T798I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 tier1 - - 40 0 0.00 56 14 19.44 COL22A1 0 genome.wustl.edu 37 8 139601522 139601522 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 139601522 139601522 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.4855 p.R1619W 1.000 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 92 0 0.00 62 47 43.12 MAPK10 0 genome.wustl.edu 37 4 87280907 87280907 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 87280907 87280907 G A SNP MAPK10 ENST00000506385 human ensembl 74_37 -1 known rna NULL NULL 0.395 - - - no_errors MAPK10 HGNC ENSG00000109339 tier1 - - 50 0 0.00 54 18 24.32 CUL3 0 genome.wustl.edu 37 2 225449666 225449666 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 225449666 225449666 A G SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known missense c.61 p.F21L 1.000 NULL pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 tier1 - - 10 0 0.00 11 4 26.67 C12orf55 0 genome.wustl.edu 37 12 96941713 96941713 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 96941713 96941713 C T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.2111 p.P704L 0.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 163 0 0.00 112 73 39.46 PCLO 0 genome.wustl.edu 37 7 82584268 82584268 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 82584268 82584268 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6001 p.E2001K 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 39 0 0.00 17 18 51.43 NTRK2 0 genome.wustl.edu 37 9 87342577 87342577 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 87342577 87342577 A G SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.862 p.T288A 1.000 prints_Tyr_kin_neurotrophic_rcpt_2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 tier1 rs140359847 - 46 0 0.00 30 25 45.45 TRIM36 0 genome.wustl.edu 37 5 114466386 114466386 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 114466386 114466386 G A SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known missense c.1735 p.R579C 0.985 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 tier1 - - 67 0 0.00 45 40 46.51 PTPRA 0 genome.wustl.edu 37 20 3017819 3017819 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 3017819 3017819 G A SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.2251 p.G751R 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 tier1 - - 37 0 0.00 38 16 29.63 NPAS3 0 genome.wustl.edu 37 14 33684485 33684485 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 33684485 33684485 C T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.238 p.L80F 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 tier1 - - 81 0 0.00 18 38 67.86 ENSG00000247121 0 genome.wustl.edu 37 5 96271198 96271198 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 96271198 96271198 G A SNP ENSG00000247121 ENST00000501338 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors CTD-2260A17.2 Clone_based_vega_gene ENSG00000247121 tier1 - - 12 0 0.00 9 7 43.75 BPIFB2 0 genome.wustl.edu 37 20 31604871 31604871 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 31604871 31604871 G A SNP BPIFB2 ENST00000170150 human ensembl 74_37 +1 known silent c.540 p.L180 1.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC ENSG00000078898 tier1 - - 29 0 0.00 34 15 30.61 SPEN 0 genome.wustl.edu 37 1 16261246 16261246 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 16261246 16261246 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.8511 p.I2837 0.996 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 tier1 - - 17 0 0.00 11 9 42.86 TGFBR3 0 genome.wustl.edu 37 1 92224237 92224237 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 92224237 92224237 G A SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known missense c.317 p.S106F 1.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 tier1 - - 90 0 0.00 78 37 31.90 ZNF836 0 genome.wustl.edu 37 19 52659026 52659026 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 52659026 52659026 G A SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known missense c.1910 p.P637L 0.983 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 ZNF836 HGNC ENSG00000196267 tier1 - - 48 0 0.00 48 11 18.64 SLC3A1 0 genome.wustl.edu 37 2 44513183 44513183 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 44513183 44513183 G A SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known missense c.778 p.G260R 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 tier1 - - 35 0 0.00 46 15 24.59 ZNF502 0 genome.wustl.edu 37 3 44762543 44762543 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 44762543 44762543 C T SNP ZNF502 ENST00000296091 human ensembl 74_37 +1 known silent c.234 p.F78 0.137 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ENSG00000196653 tier1 - - 96 0 0.00 63 50 44.25 LOC101928646 0 genome.wustl.edu 37 12 27542927 27542927 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 27542927 27542927 C T SNP LOC101928646 ENST00000500498 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-165P7.1 Clone_based_vega_gene ENSG00000245311 tier1 - - 45 0 0.00 40 7 14.58 C2orf44 0 genome.wustl.edu 37 2 24262260 24262260 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 24262260 24262260 G A SNP C2orf44 ENST00000295148 human ensembl 74_37 -1 known silent c.105 p.V35 0.988 NULL NULL - no_errors C2orf44 HGNC ENSG00000163026 tier1 - - 34 0 0.00 35 14 28.57 COL9A2 0 genome.wustl.edu 37 1 40767513 40767513 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 40767513 40767513 G A SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known missense c.1841 p.P614L 0.963 pfam_Collagen pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 tier1 - - 34 0 0.00 30 19 38.78 ENSG00000173213 0 genome.wustl.edu 37 18 50018 50018 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 50018 50018 C T SNP ENSG00000173213 ENST00000575325 human ensembl 74_37 -1 known rna NULL NULL 0.034 - - - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 tier1 - - 10 0 0.00 7 4 36.36 TRIM49B 0 genome.wustl.edu 37 11 49059508 49059508 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 49059508 49059508 C T SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known silent c.1338 p.I446 0.046 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 tier1 - - 96 0 0.00 70 22 23.91 BCL2L12 0 genome.wustl.edu 37 19 50169104 50169104 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 50169104 50169104 C T SNP BCL2L12 ENST00000246785 human ensembl 74_37 +1 known silent c.24 p.F8 0.000 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 tier1 - - 78 0 0.00 40 23 36.51 AIM1L 0 genome.wustl.edu 37 1 26670409 26670409 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 26670409 26670409 C T SNP AIM1L ENST00000527815 human ensembl 74_37 -1 known missense c.118 p.V40M 0.176 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 tier1 - - 37 0 0.00 41 17 29.31 FAM83F 0 genome.wustl.edu 37 22 40417551 40417551 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 40417551 40417551 G A SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known missense c.1037 p.R346Q 0.469 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 tier1 rs201378321 GMAF=0.0005 21 0 0.00 30 14 31.82 STAT2 0 genome.wustl.edu 37 12 56740715 56740715 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 56740715 56740715 C T SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known silent c.1749 p.R583 0.735 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 tier1 - - 42 0 0.00 39 15 27.78 DCHS2 0 genome.wustl.edu 37 4 155411865 155411865 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 155411865 155411865 C T SNP DCHS2 ENST00000339452 human ensembl 74_37 -1 known missense c.643 p.D215N 0.837 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 75 0 0.00 90 38 29.69 PTPRA 0 genome.wustl.edu 37 20 3017818 3017818 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 3017818 3017818 G A SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known silent c.2250 p.T750 0.003 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 tier1 - - 37 0 0.00 37 16 30.19 KIAA1614 0 genome.wustl.edu 37 1 180905671 180905671 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 180905671 180905671 C T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known silent c.2626 p.L876 0.268 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 tier1 - - 46 0 0.00 52 10 16.13 LOC641367 0 genome.wustl.edu 37 19 21933954 21933954 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 21933954 21933954 G A SNP LOC641367 ENST00000596710 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-420K14.6 Clone_based_vega_gene ENSG00000269845 tier1 - - 12 0 0.00 11 12 52.17 KMT2B 0 genome.wustl.edu 37 19 36228051 36228051 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 36228051 36228051 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.7437 p.L2479 0.011 pirsf_MeTrfase_trithorax,pfam_FYrich_C,smart_FYrich_C 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_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 40 0 0.00 52 8 13.33 TPRN 0 genome.wustl.edu 37 9 140093979 140093979 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 140093979 140093979 C T SNP TPRN ENST00000409012 human ensembl 74_37 -1 known silent c.1185 p.E395 0.096 NULL NULL - no_errors TPRN HGNC ENSG00000176058 tier1 - - 16 0 0.00 13 8 38.10 ZNF44 0 genome.wustl.edu 37 19 12359283 12359283 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 12359283 12359283 C T SNP ZNF44 ENST00000426973 human ensembl 74_37 -1 known silent c.432 p.Q144 0.042 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 ZNF44 HGNC ENSG00000197857 tier1 - - 52 0 0.00 51 6 10.53 UNKL 0 genome.wustl.edu 37 16 1419971 1419971 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 1419971 1419971 G A SNP UNKL ENST00000248104 human ensembl 74_37 -1 known missense c.37 p.P13S 0.013 NULL pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 tier1 - - 39 0 0.00 37 13 26.00 CASC4 0 genome.wustl.edu 37 15 44581550 44581550 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 44581550 44581550 A T SNP CASC4 ENST00000299957 human ensembl 74_37 +1 known missense c.323 p.D108V 1.000 NULL NULL - no_errors CASC4 HGNC ENSG00000166734 tier1 - - 40 0 0.00 12 21 63.64 ENSG00000182873 0 genome.wustl.edu 37 1 2113692 2113692 + R SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 2113692 2113692 G C SNP ENSG00000182873 ENST00000333854 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-181G12.2 Clone_based_vega_gene ENSG00000182873 tier1 - - 43 0 0.00 52 12 18.75 TMLHE 0 genome.wustl.edu 37 X 154721289 154721289 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 154721289 154721289 C T SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known silent c.1173 p.R391 1.000 pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 tier1 - - 21 0 0.00 19 9 32.14 CEACAM16 0 genome.wustl.edu 37 19 45211202 45211202 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 45211202 45211202 C T SNP CEACAM16 ENST00000405314 human ensembl 74_37 +1 known missense c.1010 p.T337I 0.991 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM16 HGNC ENSG00000213892 tier1 - - 43 0 0.00 24 17 41.46 EB1BP2 0 genome.wustl.edu 37 1 43638153 43638153 + R SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 43638153 43638153 A C SNP EB1BP2 ENST00000491223 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EB1BP2 HGNC ENSG00000117395 tier1 - - 18 0 0.00 6 8 57.14 KIAA1683 0 genome.wustl.edu 37 19 18376638 18376638 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 18376638 18376638 G A SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.1712 p.S571F 0.007 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 tier1 - - 40 0 0.00 24 20 45.45 TRIM77 0 genome.wustl.edu 37 11 89450848 89450848 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 89450848 89450848 C T SNP TRIM77 ENST00000398290 human ensembl 74_37 +1 known silent c.1161 p.F387 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM77 HGNC ENSG00000214414 tier1 - - 83 0 0.00 104 24 18.75 PGBD2 0 genome.wustl.edu 37 1 249210871 249210871 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 249210871 249210871 A T SNP PGBD2 ENST00000329291 human ensembl 74_37 +1 known missense c.88 p.M30L 0.379 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 tier1 - - 34 0 0.00 62 12 16.22 ENSG00000234978 0 genome.wustl.edu 37 1 142803900 142803900 + R SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 142803900 142803900 T G SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 - - 58 0 0.00 31 7 18.42 LRP1B 0 genome.wustl.edu 37 2 141214171 141214171 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 141214171 141214171 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.9816 p.V3272 0.980 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 47 0 0.00 50 19 27.54 APC 0 genome.wustl.edu 37 5 112178969 112178969 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 112178969 112178969 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.7678 p.R2560* 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 52 0 0.00 40 15 26.79 LILRB5 0 genome.wustl.edu 37 19 54760617 54760617 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 54760617 54760617 G A SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known silent c.90 p.T30 0.820 pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 tier1 - - 37 0 0.00 46 13 22.03 PAPPA2 0 genome.wustl.edu 37 1 176769237 176769237 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 176769237 176769237 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.5171 p.P1724L 0.994 smart_Notch_dom pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 48 0 0.00 46 29 38.67 MAGEB18 0 genome.wustl.edu 37 X 26157983 26157983 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 26157983 26157983 C T SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.881 p.T294I 0.019 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 tier1 - - 37 0 0.00 13 28 68.29 PYGM 0 genome.wustl.edu 37 11 64518769 64518769 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 64518769 64518769 C T SNP PYGM ENST00000462303 human ensembl 74_37 -1 putative rna NULL NULL 0.012 - - - no_errors PYGM HGNC ENSG00000068976 tier1 - - 38 0 0.00 34 16 32.00 LUC7L 0 genome.wustl.edu 37 16 240099 240099 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 240099 240099 C T SNP LUC7L ENST00000293872 human ensembl 74_37 -1 known missense c.842 p.R281K 0.992 NULL pfam_Luc7-rel - no_errors LUC7L HGNC ENSG00000007392 tier1 - - 85 0 0.00 68 32 32.00 RSAD1 0 genome.wustl.edu 37 17 48562159 48562159 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 48562159 48562159 C T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known silent c.1266 p.T422 0.951 NULL pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 tier1 - - 70 0 0.00 61 30 32.97 NBPF1 0 genome.wustl.edu 37 1 16918514 16918514 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 16918514 16918514 C T SNP NBPF1 ENST00000392963 human ensembl 74_37 -1 known missense c.3 p.M1I 0.041 NULL NULL - no_errors NBPF1 HGNC ENSG00000219481 tier1 - - 474 0 0.00 536 55 9.31 SLC24A5 0 genome.wustl.edu 37 15 48427157 48427157 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 48427157 48427157 T C SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known missense c.566 p.I189T 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 tier1 - - 80 0 0.00 36 31 46.27 APOL5 0 genome.wustl.edu 37 22 36123192 36123192 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 36123192 36123192 C T SNP APOL5 ENST00000249044 human ensembl 74_37 +1 known silent c.1077 p.S359 0.002 NULL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 tier1 - - 45 0 0.00 36 16 30.77 GPR31 0 genome.wustl.edu 37 6 167570891 167570891 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 167570891 167570891 G A SNP GPR31 ENST00000366834 human ensembl 74_37 -1 known silent c.429 p.V143 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR31 HGNC ENSG00000120436 tier1 - - 60 0 0.00 78 21 21.21 FBRS 0 genome.wustl.edu 37 16 30681594 30681594 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30681594 30681594 C T SNP FBRS ENST00000395073 human ensembl 74_37 +1 known missense c.1172 p.P391L 0.275 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 tier1 - - 50 0 0.00 63 19 23.17 DSPP 0 genome.wustl.edu 37 4 88535015 88535015 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 88535015 88535015 G A SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.1201 p.D401N 0.147 NULL NULL - no_errors DSPP HGNC ENSG00000152591 tier1 - - 76 0 0.00 45 18 28.57 KC4 0 genome.wustl.edu 37 11 30034050 30034050 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 30034050 30034050 C T SNP KC4 ENST00000328224 human ensembl 74_37 -1 known missense c.176 p.G59E 1.000 pfam_K_chnl_volt-dep_Kv1.4_TID,prints_K_chnl_volt-dep_Kv1.4 pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KC4 HGNC ENSG00000182255 tier1 - - 23 0 0.00 25 4 13.79 SYNRG 0 genome.wustl.edu 37 17 35939377 35939377 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 35939377 35939377 G A SNP SYNRG ENST00000394379 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SYNRG HGNC ENSG00000006114 tier1 - - 95 0 0.00 124 25 16.78 EPX 0 genome.wustl.edu 37 17 56276507 56276507 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 56276507 56276507 G A SNP EPX ENST00000225371 human ensembl 74_37 +1 known nonsense c.1227 p.W409* 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 tier1 - - 49 0 0.00 55 19 25.68 ACIN1 0 genome.wustl.edu 37 14 23535183 23535183 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 23535183 23535183 G A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.2474 p.S825F 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 tier1 - - 90 0 0.00 28 30 51.72 SMPD3 0 genome.wustl.edu 37 16 68405671 68405671 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 68405671 68405671 G A SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known silent c.414 p.L138 0.988 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 tier1 - - 73 0 0.00 43 19 30.65 SLC25A39 0 genome.wustl.edu 37 17 42399810 42399810 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 42399810 42399810 G A SNP SLC25A39 ENST00000377095 human ensembl 74_37 -1 known missense c.301 p.P101S 0.999 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 SLC25A39 HGNC ENSG00000013306 tier1 - - 53 0 0.00 44 28 38.89 USP48 0 genome.wustl.edu 37 1 22074761 22074761 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 22074761 22074761 C T SNP USP48 ENST00000308271 human ensembl 74_37 -1 known missense c.778 p.E260K 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 - - 48 0 0.00 29 18 38.30 TNXB 0 genome.wustl.edu 37 6 32017938 32017938 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 32017938 32017938 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.9270 p.V3090 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 53 0 0.00 46 11 19.30 FBXO18 0 genome.wustl.edu 37 10 5932244 5932244 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 5932244 5932244 G A SNP FBXO18 ENST00000462507 human ensembl 74_37 +1 known rna NULL NULL 0.077 - - - no_errors FBXO18 HGNC ENSG00000134452 tier1 - - 23 0 0.00 22 9 29.03 PRUNE2 0 genome.wustl.edu 37 9 79321687 79321687 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 79321687 79321687 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known nonsense c.4426 p.Q1476* 0.001 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 - - 37 0 0.00 25 15 37.50 DAPK1 0 genome.wustl.edu 37 9 90321074 90321074 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 90321074 90321074 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known nonsense c.3163 p.Q1055* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 - - 28 0 0.00 41 15 26.79 CELSR1 0 genome.wustl.edu 37 22 46787588 46787588 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 46787588 46787588 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.6090 p.G2030 0.998 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 - - 60 0 0.00 84 35 29.41 GBE1 0 genome.wustl.edu 37 3 81548274 81548274 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 81548274 81548274 G A SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known missense c.2039 p.P680L 0.872 pfam_A-amylase_b_C pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 tier1 - - 94 0 0.00 98 21 17.65 B4GALNT2 0 genome.wustl.edu 37 17 47218739 47218739 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 47218739 47218739 C T SNP B4GALNT2 ENST00000300404 human ensembl 74_37 +1 known missense c.325 p.P109S 0.000 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 tier1 - - 44 0 0.00 47 21 30.88 PCLO 0 genome.wustl.edu 37 7 82387942 82387942 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 82387942 82387942 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.15378 p.K5126N 1.000 superfamily_C2_dom,smart_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 49 0 0.00 49 25 33.78 PDE1C 0 genome.wustl.edu 37 7 31877578 31877578 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 31877578 31877578 G A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known nonsense c.988 p.R330* 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 tier1 - - 79 0 0.00 52 9 14.75 MAK16 0 genome.wustl.edu 37 8 33355983 33355983 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 33355983 33355983 G A SNP MAK16 ENST00000360128 human ensembl 74_37 +1 known missense c.739 p.D247N 1.000 pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 tier1 - - 68 0 0.00 50 25 33.33 MRPL19 0 genome.wustl.edu 37 2 75879778 75879778 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 75879778 75879778 G C SNP MRPL19 ENST00000393909 human ensembl 74_37 +1 known missense c.470 p.G157A 1.000 pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19 pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19 - no_errors MRPL19 HGNC ENSG00000115364 tier1 - - 38 0 0.00 26 11 29.73 PLEKHM2 0 genome.wustl.edu 37 1 16057088 16057088 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 16057088 16057088 C T SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.2270 p.S757F 0.986 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 tier1 - - 32 0 0.00 22 9 29.03 ZBTB18 0 genome.wustl.edu 37 1 244217518 244217518 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 244217518 244217518 G A SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.442 p.D148N 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 tier1 - - 25 0 0.00 23 15 39.47 TTLL6 0 genome.wustl.edu 37 17 46865262 46865262 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 46865262 46865262 C T SNP TTLL6 ENST00000393382 human ensembl 74_37 -1 known silent c.1500 p.L500 0.005 NULL pfam_TTL/TTLL_fam - no_errors TTLL6 HGNC ENSG00000170703 tier1 - - 83 0 0.00 55 33 37.50 NOL9 0 genome.wustl.edu 37 1 6586798 6586798 + Silent SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 6586798 6586798 G T SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known silent c.1917 p.L639 0.005 pfam_Pre-mR_cleavage_cplxII_Clp1 pfam_Pre-mR_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 tier1 - - 40 0 0.00 26 21 44.68 ABCB8 0 genome.wustl.edu 37 7 150741290 150741290 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 150741290 150741290 C T SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known silent c.2049 p.A683 0.177 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 tier1 - - 46 0 0.00 51 34 40.00 ARHGAP21 0 genome.wustl.edu 37 10 24874032 24874032 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 24874032 24874032 G A SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.5186 p.S1729L 0.926 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 98 0 0.00 66 18 21.43 ERGIC1 0 genome.wustl.edu 37 5 172347428 172347428 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 172347428 172347428 C T SNP ERGIC1 ENST00000523650 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors ERGIC1 HGNC ENSG00000113719 tier1 - - 52 0 0.00 78 15 15.96 KRT14 0 genome.wustl.edu 37 17 39739833 39739833 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 39739833 39739833 C T SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known silent c.1023 p.L341 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 tier1 - - 44 0 0.00 35 12 25.53 CYP2J2 0 genome.wustl.edu 37 1 60359339 60359339 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 60359339 60359339 G A SNP CYP2J2 ENST00000371204 human ensembl 74_37 -1 known missense c.1493 p.A498V 1.000 superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2J-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2J2 HGNC ENSG00000134716 tier1 - - 82 0 0.00 73 32 30.48 TMEM119 0 genome.wustl.edu 37 12 108985902 108985902 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 108985902 108985902 C T SNP TMEM119 ENST00000392806 human ensembl 74_37 -1 known silent c.258 p.G86 0.725 NULL NULL - no_errors TMEM119 HGNC ENSG00000183160 tier1 - - 28 0 0.00 20 8 28.57 SCN10A 0 genome.wustl.edu 37 3 38768307 38768307 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 38768307 38768307 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.2877 p.E959 0.038 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 28 0 0.00 25 9 26.47 ANK1 0 genome.wustl.edu 37 8 41526059 41526059 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 41526059 41526059 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.5120 p.G1707D 0.998 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 42 0 0.00 36 6 14.29 PCSK1 0 genome.wustl.edu 37 5 95729033 95729033 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 95729033 95729033 C A SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.1934 p.S645I 0.028 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 tier1 - - 44 0 0.00 36 22 37.93 CASKIN2 0 genome.wustl.edu 37 17 73504326 73504326 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 73504326 73504326 C T SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known silent c.135 p.Q45 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 tier1 - - 52 0 0.00 47 25 34.72 PKN2 0 genome.wustl.edu 37 1 89271279 89271279 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 89271279 89271279 T A SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known missense c.1601 p.F534Y 1.000 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 tier1 - - 56 0 0.00 40 26 39.39 AHK2 0 genome.wustl.edu 37 14 105409323 105409323 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 105409323 105409323 G A SNP AHK2 ENST00000333244 human ensembl 74_37 -1 known silent c.12465 p.S4155 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK2 HGNC ENSG00000185567 tier1 - - 128 0 0.00 54 64 54.24 NUP210P1 0 genome.wustl.edu 37 3 126386106 126386106 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 126386106 126386106 C T SNP NUP210P1 ENST00000357061 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NUP210P1 HGNC ENSG00000198284 tier1 - - 63 0 0.00 52 29 35.80 TTC21A 0 genome.wustl.edu 37 3 39172547 39172547 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 39172547 39172547 G A SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known silent c.2547 p.K849 0.661 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 tier1 - - 40 0 0.00 38 16 29.63 GPR98 0 genome.wustl.edu 37 5 89999575 89999575 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 89999575 89999575 A T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.8249 p.N2750I 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 101 0 0.00 112 53 32.12 HMX2 0 genome.wustl.edu 37 10 124909209 124909209 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 124909209 124909209 C T SNP HMX2 ENST00000339992 human ensembl 74_37 +1 known missense c.392 p.P131L 0.981 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX2 HGNC ENSG00000188816 tier1 - - 40 0 0.00 36 40 51.95 USP26 0 genome.wustl.edu 37 X 132160344 132160344 + Silent SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 132160344 132160344 T A SNP USP26 ENST00000370832 human ensembl 74_37 -1 known silent c.1905 p.P635 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 tier1 - - 31 0 0.00 23 8 25.81 SLC25A3P1 0 genome.wustl.edu 37 1 53904604 53904604 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 53904604 53904604 C T SNP SLC25A3P1 ENST00000562700 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 tier1 - - 18 0 0.00 37 19 33.93 LTBP4 0 genome.wustl.edu 37 19 41133182 41133182 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 41133182 41133182 C T SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.4486 p.R1496C 0.125 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 tier1 - - 33 0 0.00 18 8 30.77 RASA4B 0 genome.wustl.edu 37 7 102147197 102147197 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 102147197 102147197 C T SNP RASA4B ENST00000465829 human ensembl 74_37 -1 known missense c.373 p.E125K 1.000 superfamily_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_C2_dom - no_errors RASA4B HGNC ENSG00000170667 tier1 - - 51 0 0.00 53 14 20.90 PRAMENP 0 genome.wustl.edu 37 22 22348916 22348916 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 22348916 22348916 G A SNP PRAMENP ENST00000337471 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PRAMENP HGNC ENSG00000197549 tier1 - - 11 0 0.00 6 5 45.45 TOMM7 0 genome.wustl.edu 37 7 22857043 22857043 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 22857043 22857043 G T SNP TOMM7 ENST00000372879 human ensembl 74_37 -1 putative missense c.277 p.Q93K 0.001 NULL pfam_Tom7 - no_errors TOMM7 HGNC ENSG00000196683 tier1 - - 30 0 0.00 31 5 13.89 ENSG00000273106 0 genome.wustl.edu 37 2 44395869 44395869 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 44395869 44395869 G A SNP ENSG00000273106 ENST00000609837 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-559M23.1 Clone_based_vega_gene ENSG00000273106 tier1 - - 14 0 0.00 9 5 35.71 OR10P1 0 genome.wustl.edu 37 12 56030944 56030944 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 56030944 56030944 C T SNP OR10P1 ENST00000309675 human ensembl 74_37 +1 known missense c.269 p.P90L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10P1 HGNC ENSG00000175398 tier1 - - 29 0 0.00 19 13 40.62 MARCO 0 genome.wustl.edu 37 2 119750716 119750716 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 119750716 119750716 C T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known silent c.1269 p.S423 0.000 superfamily_Srcr_rcpt-rel,prints_SRCR pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 86 0 0.00 71 47 39.83 RETNLB 0 genome.wustl.edu 37 3 108474705 108474705 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 108474705 108474705 C T SNP RETNLB ENST00000295755 human ensembl 74_37 -1 known missense c.256 p.D86N 0.928 pfam_Resistin,superfamily_Resistin pfam_Resistin,superfamily_Resistin - no_errors RETNLB HGNC ENSG00000163515 tier1 - - 40 0 0.00 50 17 25.37 DUSP7 0 genome.wustl.edu 37 3 52088019 52088019 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52088019 52088019 G A SNP DUSP7 ENST00000296483 human ensembl 74_37 -1 known missense c.736 p.P246S 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP7 HGNC ENSG00000164086 tier1 - - 50 0 0.00 60 15 20.00 RXFP1 0 genome.wustl.edu 37 4 159568146 159568146 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 159568146 159568146 C T SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known missense c.1549 p.P517S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 tier1 - - 44 0 0.00 35 21 36.84 LOC101927795 0 genome.wustl.edu 37 2 201676618 201676618 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 201676618 201676618 C T SNP LOC101927795 ENST00000447972 human ensembl 74_37 -1 known rna NULL NULL 0.123 - - - no_errors AC007163.6 Clone_based_vega_gene ENSG00000230408 tier1 - - 71 0 0.00 65 29 30.85 ZNF764 0 genome.wustl.edu 37 16 30567121 30567121 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30567121 30567121 G A SNP ZNF764 ENST00000252797 human ensembl 74_37 -1 known silent c.621 p.D207 0.099 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 ZNF764 HGNC ENSG00000169951 tier1 - - 44 0 0.00 61 13 17.57 MAST3 0 genome.wustl.edu 37 19 18257757 18257757 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 18257757 18257757 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.3142 p.R1048W 0.732 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 tier1 - - 30 0 0.00 22 14 38.89 SLCO1C1 0 genome.wustl.edu 37 12 20905387 20905387 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 20905387 20905387 C T SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.2167 p.P723S 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 29 0 0.00 21 14 40.00 SLC24A5 0 genome.wustl.edu 37 15 48434273 48434273 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 48434273 48434273 G A SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known missense c.1228 p.D410N 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 tier1 - - 27 0 0.00 17 17 50.00 TMPRSS6 0 genome.wustl.edu 37 22 37466603 37466603 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 37466603 37466603 G A SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known missense c.1762 p.R588W 0.729 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 tier1 - - 40 0 0.00 27 13 32.50 XKR5 0 genome.wustl.edu 37 8 6669734 6669734 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 6669734 6669734 C T SNP XKR5 ENST00000405979 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XKR5 HGNC ENSG00000186530 tier1 - - 82 0 0.00 47 16 25.40 GPR32 0 genome.wustl.edu 37 19 51274790 51274790 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 51274790 51274790 C T SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known silent c.933 p.L311 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 tier1 - - 57 0 0.00 57 12 17.14 AMPD1 0 genome.wustl.edu 37 1 115218600 115218600 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 115218600 115218600 G C SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.1512 p.F504L 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 tier1 - - 98 0 0.00 96 20 17.24 SNRPB2 0 genome.wustl.edu 37 20 16721501 16721501 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 16721501 16721501 T C SNP SNRPB2 ENST00000246071 human ensembl 74_37 +1 known missense c.529 p.F177L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPB2 HGNC ENSG00000125870 tier1 - - 27 0 0.00 19 22 53.66 TSKS 0 genome.wustl.edu 37 19 50251659 50251659 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 50251659 50251659 C A SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.467 p.R156L 0.999 NULL NULL - no_errors TSKS HGNC ENSG00000126467 tier1 - - 52 0 0.00 54 16 22.86 ENSG00000258017 0 genome.wustl.edu 37 12 49524995 49524995 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 49524995 49524995 C T SNP ENSG00000258017 ENST00000547712 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-386G11.10 Clone_based_vega_gene ENSG00000258017 tier1 - - 101 0 0.00 62 26 29.55 MAPK15 0 genome.wustl.edu 37 8 144803783 144803783 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 144803783 144803783 C T SNP MAPK15 ENST00000338033 human ensembl 74_37 +1 known silent c.1269 p.L423 0.006 NULL 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 MAPK15 HGNC ENSG00000181085 tier1 - - 58 0 0.00 49 19 27.94 ORAI3 0 genome.wustl.edu 37 16 30964794 30964794 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30964794 30964794 A G SNP ORAI3 ENST00000318663 human ensembl 74_37 +1 known missense c.517 p.K173E 1.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI3 HGNC ENSG00000175938 tier1 - - 53 0 0.00 53 28 34.57 CCDC108 0 genome.wustl.edu 37 2 219870876 219870876 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 219870876 219870876 C T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.4789 p.E1597K 0.004 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 tier1 - - 31 0 0.00 42 20 32.26 TNPO1 0 genome.wustl.edu 37 5 72185734 72185734 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 72185734 72185734 G A SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.1651 p.D551N 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 tier1 - - 49 0 0.00 32 15 31.91 TNIK 0 genome.wustl.edu 37 3 170875363 170875363 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 170875363 170875363 C T SNP TNIK ENST00000436636 human ensembl 74_37 -1 known silent c.1107 p.R369 0.997 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 tier1 - - 53 0 0.00 44 34 43.04 BPIFB1 0 genome.wustl.edu 37 20 31877727 31877727 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 31877727 31877727 G A SNP BPIFB1 ENST00000253354 human ensembl 74_37 +1 known silent c.294 p.Q98 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 tier1 - - 39 0 0.00 45 33 42.31 SLC12A5 0 genome.wustl.edu 37 20 44671893 44671893 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 44671893 44671893 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.1237 p.P413S 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 40 0 0.00 28 7 20.00 MTERFD2 0 genome.wustl.edu 37 2 242026692 242026692 + R SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 242026692 242026692 G T SNP MTERFD2 ENST00000455202 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTERFD2 HGNC ENSG00000122085 tier1 - - 55 0 0.00 38 4 9.52 APOB 0 genome.wustl.edu 37 2 21245744 21245744 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 21245744 21245744 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.2775 p.I925 0.096 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 61 0 0.00 89 13 12.75 CRNKL1 0 genome.wustl.edu 37 20 20026105 20026105 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 20026105 20026105 C T SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known silent c.1131 p.K377 1.000 pfam_HAT,smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 tier1 - - 81 0 0.00 69 48 40.68 MURC 0 genome.wustl.edu 37 9 103348406 103348406 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 103348406 103348406 G A SNP MURC ENST00000307584 human ensembl 74_37 +1 known silent c.768 p.K256 1.000 NULL NULL - no_errors MURC HGNC ENSG00000170681 tier1 - - 58 0 0.00 72 35 32.41 MBNL1 0 genome.wustl.edu 37 3 152018007 152018007 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 152018007 152018007 C T SNP MBNL1 ENST00000282486 human ensembl 74_37 +1 known missense c.25 p.R9W 1.000 NULL smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 tier1 - - 105 0 0.00 92 49 34.75 ZNF347 0 genome.wustl.edu 37 19 53644726 53644726 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 53644726 53644726 G A SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.1358 p.T453I 0.986 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 ZNF347 HGNC ENSG00000197937 tier1 - - 70 0 0.00 80 22 21.57 TAS2R39 0 genome.wustl.edu 37 7 142880796 142880796 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 142880796 142880796 C T SNP TAS2R39 ENST00000446620 human ensembl 74_37 +1 known silent c.285 p.T95 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R39 HGNC ENSG00000236398 tier1 - - 42 0 0.00 37 22 37.29 PELI3 0 genome.wustl.edu 37 11 66243577 66243577 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 66243577 66243577 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.1349 p.G450E 0.998 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 tier1 - - 22 0 0.00 14 11 42.31 HECW2 0 genome.wustl.edu 37 2 197183519 197183519 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 197183519 197183519 C T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.2095 p.E699K 0.999 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 tier1 - - 68 0 0.00 29 22 43.14 AGPAT6 0 genome.wustl.edu 37 8 41467192 41467192 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 41467192 41467192 C T SNP AGPAT6 ENST00000396987 human ensembl 74_37 +1 known missense c.254 p.P85L 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 tier1 - - 41 0 0.00 42 26 38.24 TMEM132B 0 genome.wustl.edu 37 12 126128661 126128661 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 126128661 126128661 G A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.1462 p.E488K 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 99 0 0.00 72 53 42.40 UGDH 0 genome.wustl.edu 37 4 39515778 39515778 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 39515778 39515778 G A SNP UGDH ENST00000316423 human ensembl 74_37 -1 known silent c.189 p.S63 0.992 pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 tier1 - - 79 0 0.00 79 40 33.61 DIP2A 0 genome.wustl.edu 37 21 47987694 47987694 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47987694 47987694 C T SNP DIP2A ENST00000479654 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors DIP2A HGNC ENSG00000160305 tier1 - - 18 0 0.00 16 7 30.43 TRPC4 0 genome.wustl.edu 37 13 38266465 38266465 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 38266465 38266465 G A SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.905 p.A302V 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 tier1 - - 19 0 0.00 15 8 34.78 C2orf49 0 genome.wustl.edu 37 2 105953996 105953996 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 105953996 105953996 C T SNP C2orf49 ENST00000437250 human ensembl 74_37 +1 known silent c.66 p.F22 0.001 NULL NULL - no_errors C2orf49 HGNC ENSG00000135974 tier1 - - 74 0 0.00 67 27 28.72 ACTBL2 0 genome.wustl.edu 37 5 56777819 56777819 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 56777819 56777819 C T SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known missense c.716 p.R239Q 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 tier1 - - 33 0 0.00 28 17 37.78 SAMD7 0 genome.wustl.edu 37 3 169644534 169644534 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 169644534 169644534 G A SNP SAMD7 ENST00000335556 human ensembl 74_37 +1 known missense c.484 p.G162R 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD7 HGNC ENSG00000187033 tier1 - - 41 0 0.00 35 4 10.00 ULK2 0 genome.wustl.edu 37 17 19689318 19689318 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 19689318 19689318 C T SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known missense c.2183 p.G728E 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 tier1 - - 68 0 0.00 60 25 29.41 GRIK5 0 genome.wustl.edu 37 19 42506553 42506553 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 42506553 42506553 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.2660 p.P887L 0.011 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 tier1 - - 60 0 0.00 52 17 24.64 PCDHGB4 0 genome.wustl.edu 37 5 140767511 140767511 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140767511 140767511 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known silent c.60 p.F20 0.033 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 tier1 - - 33 0 0.00 27 13 32.50 MT-ND5 0 genome.wustl.edu 37 MT 13881 13881 + Silent SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 MT 13881 13881 C G SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.1545 p.S515 NULL pfam_DH_DH_su5_C pfam_DH_UbQ/plastoQ_OxRdtase,pfam_DH_DH_su5_C,pfam_DH_UbQ_OxRdtase_chain5/L_N,tigrfam_DHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 55 0 0.00 10 2 16.67 STAP1 0 genome.wustl.edu 37 4 68447177 68447177 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 68447177 68447177 A G SNP STAP1 ENST00000265404 human ensembl 74_37 +1 known missense c.518 p.N173S 0.998 NULL pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC ENSG00000035720 tier1 - - 47 0 0.00 57 28 32.94 ABHD17A 0 genome.wustl.edu 37 19 1877605 1877605 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1877605 1877605 G A SNP ABHD17A ENST00000590661 human ensembl 74_37 -1 novel missense c.515 p.T172M 0.932 NULL NULL - no_errors ABHD17A HGNC ENSG00000129968 tier1 - - 45 0 0.00 22 19 46.34 MRC2 0 genome.wustl.edu 37 17 60743898 60743898 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 60743898 60743898 G A SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known nonsense c.777 p.W259* 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 tier1 - - 22 0 0.00 28 13 31.71 RSPO1 0 genome.wustl.edu 37 1 38082235 38082235 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 38082235 38082235 G A SNP RSPO1 ENST00000356545 human ensembl 74_37 -1 known silent c.207 p.I69 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO1 HGNC ENSG00000169218 tier1 - - 29 0 0.00 24 21 46.67 DUOX2 0 genome.wustl.edu 37 15 45386853 45386853 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 45386853 45386853 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.4432 p.R1478W 1.000 pfam_Fe_red_D-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 tier1 - - 49 0 0.00 31 35 53.03 FOXS1 0 genome.wustl.edu 37 20 30433190 30433190 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 30433190 30433190 G A SNP FOXS1 ENST00000375978 human ensembl 74_37 -1 known silent c.156 p.F52 0.980 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXS1 HGNC ENSG00000179772 tier1 - - 97 0 0.00 116 68 36.96 EPB41L4B 0 genome.wustl.edu 37 9 111954565 111954565 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 111954565 111954565 G A SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.2294 p.T765I 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 tier1 - - 70 0 0.00 62 35 36.08 SCAMP3 0 genome.wustl.edu 37 1 155226052 155226052 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 155226052 155226052 C T SNP SCAMP3 ENST00000472397 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors SCAMP3 HGNC ENSG00000116521 tier1 - - 32 0 0.00 47 5 9.62 TTN 0 genome.wustl.edu 37 2 179606139 179606139 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179606139 179606139 G A SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.11308 p.L3770F 0.233 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 - - 33 0 0.00 23 8 25.81 ADORA1 0 genome.wustl.edu 37 1 203134294 203134294 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 203134294 203134294 C T SNP ADORA1 ENST00000464019 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADORA1 HGNC ENSG00000163485 tier1 - - 55 0 0.00 67 23 25.56 FAM83G 0 genome.wustl.edu 37 17 18874837 18874837 + Silent SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 18874837 18874837 G T SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known silent c.2307 p.P769 0.000 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 73 0 0.00 111 59 34.71 COL1A2 0 genome.wustl.edu 37 7 94056551 94056551 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 94056551 94056551 C T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.3211 p.P1071S 0.960 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 - - 46 0 0.00 47 17 26.15 UHRF1BP1 0 genome.wustl.edu 37 6 34827038 34827038 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 34827038 34827038 C T SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.2905 p.H969Y 0.998 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 tier1 - - 34 0 0.00 45 8 15.09 SCUBE3 0 genome.wustl.edu 37 6 35211404 35211404 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 35211404 35211404 A G SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.1991 p.Q664R 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 tier1 - - 41 0 0.00 47 10 17.54 RNF41 0 genome.wustl.edu 37 12 56600344 56600344 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 56600344 56600344 G A SNP RNF41 ENST00000345093 human ensembl 74_37 -1 known missense c.841 p.P281S 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 tier1 - - 45 0 0.00 24 10 29.41 LRPPRC 0 genome.wustl.edu 37 2 44175568 44175568 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 44175568 44175568 G A SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.1825 p.H609Y 1.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 tier1 - - 54 0 0.00 57 22 27.85 CRTC2 0 genome.wustl.edu 37 1 153925794 153925794 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 153925794 153925794 C T SNP CRTC2 ENST00000368633 human ensembl 74_37 -1 known silent c.555 p.Q185 1.000 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 tier1 - - 55 0 0.00 51 38 42.70 C2orf43 0 genome.wustl.edu 37 2 20939875 20939875 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 20939875 20939875 G A SNP C2orf43 ENST00000237822 human ensembl 74_37 -1 known nonsense c.559 p.R187* 1.000 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 tier1 - - 58 0 0.00 45 30 40.00 GPR52 0 genome.wustl.edu 37 1 174417664 174417664 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 174417664 174417664 C T SNP GPR52 ENST00000367685 human ensembl 74_37 +1 known missense c.415 p.R139C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 tier1 - - 37 0 0.00 17 15 46.88 HCFC2 0 genome.wustl.edu 37 12 104495890 104495890 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 104495890 104495890 C T SNP HCFC2 ENST00000229330 human ensembl 74_37 +1 known missense c.2023 p.P675S 1.000 superfamily_Fibronectin_type3 pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 tier1 - - 70 0 0.00 47 12 20.34 SMC4 0 genome.wustl.edu 37 3 160135717 160135717 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 160135717 160135717 C T SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known silent c.1644 p.L548 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 tier1 - - 56 0 0.00 39 23 37.10 DTX2 0 genome.wustl.edu 37 7 76110035 76110035 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 76110035 76110035 C T SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known missense c.209 p.P70L 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 tier1 - - 64 0 0.00 54 25 31.65 MAPT 0 genome.wustl.edu 37 17 44039689 44039689 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 44039689 44039689 G A SNP MAPT ENST00000570299 human ensembl 74_37 +1 known rna NULL NULL 0.797 - - - no_errors MAPT HGNC ENSG00000186868 tier1 - - 53 0 0.00 51 19 27.14 MAP9 0 genome.wustl.edu 37 4 156269048 156269048 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 156269048 156269048 C T SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known missense c.1831 p.E611K 1.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 tier1 - - 43 0 0.00 38 18 32.14 LMBRD2 0 genome.wustl.edu 37 5 36137496 36137496 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 36137496 36137496 G A SNP LMBRD2 ENST00000296603 human ensembl 74_37 -1 known missense c.416 p.S139F 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD2 HGNC ENSG00000164187 tier1 - - 108 0 0.00 110 31 21.99 MUC12 0 genome.wustl.edu 37 7 100646584 100646584 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 100646584 100646584 C T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.12740 p.S4247F 0.002 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 194 0 0.00 244 22 8.24 WNK2 0 genome.wustl.edu 37 9 96021237 96021237 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 96021237 96021237 C T SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.2407 p.P803S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 tier1 - - 82 0 0.00 65 41 38.68 SLC47A1 0 genome.wustl.edu 37 17 19451344 19451344 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 19451344 19451344 G A SNP SLC47A1 ENST00000395585 human ensembl 74_37 +1 known missense c.353 p.R118Q 0.258 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 tier1 rs77138970 GMAF=0.0005 54 0 0.00 36 19 34.55 PARN 0 genome.wustl.edu 37 16 14702154 14702154 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 14702154 14702154 G A SNP PARN ENST00000437198 human ensembl 74_37 -1 known nonsense c.643 p.Q215* 1.000 pfam_RNase_CAF1,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd pfam_RNase_CAF1,pfam_PolyA-riboNase_R_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 tier1 - - 112 0 0.00 93 45 32.61 DENND4C 0 genome.wustl.edu 37 9 19347012 19347012 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 19347012 19347012 G T SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.4098 p.M1366I 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 tier1 - - 17 0 0.00 8 10 55.56 ARPP21 0 genome.wustl.edu 37 3 35833730 35833730 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 35833730 35833730 T C SNP ARPP21 ENST00000476052 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 52 0 0.00 39 19 32.76 CCSER1 0 genome.wustl.edu 37 4 91321246 91321246 + Silent SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 91321246 91321246 T G SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known silent c.1569 p.L523 0.995 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 26 0 0.00 33 19 36.54 ALPI 0 genome.wustl.edu 37 2 233320961 233320961 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 233320961 233320961 C G SNP ALPI ENST00000295463 human ensembl 74_37 +1 known missense c.52 p.L18V 0.631 NULL pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 tier1 - - 132 0 0.00 73 60 45.11 B3GAT1 0 genome.wustl.edu 37 11 134254067 134254067 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 134254067 134254067 G A SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.167 p.P56L 0.069 NULL pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 tier1 - - 9 0 0.00 7 5 41.67 MUC5AC 0 genome.wustl.edu 37 11 1213551 1213551 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 1213551 1213551 C T SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MUC5AC HGNC ENSG00000215182 tier1 - - 64 0 0.00 65 14 17.72 C4orf19 0 genome.wustl.edu 37 4 37592333 37592333 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 37592333 37592333 G A SNP C4orf19 ENST00000284437 human ensembl 74_37 +1 known missense c.656 p.G219E 0.000 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 tier1 - - 25 0 0.00 28 18 39.13 RAD23A 0 genome.wustl.edu 37 19 13059109 13059109 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 13059109 13059109 C T SNP RAD23A ENST00000586534 human ensembl 74_37 +1 known missense c.353 p.A118V 0.119 tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 tier1 - - 48 0 0.00 40 10 20.00 PHKA1 0 genome.wustl.edu 37 X 71813108 71813108 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 71813108 71813108 A T SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.3140 p.M1047K 0.003 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 tier1 - - 68 0 0.00 22 63 74.12 FBXO18 0 genome.wustl.edu 37 10 5932245 5932245 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 5932245 5932245 G A SNP FBXO18 ENST00000462507 human ensembl 74_37 +1 known rna NULL NULL 0.098 - - - no_errors FBXO18 HGNC ENSG00000134452 tier1 - - 24 0 0.00 22 9 29.03 FOXK1 0 genome.wustl.edu 37 7 4794920 4794920 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 4794920 4794920 C T SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known missense c.956 p.S319F 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 tier1 - - 57 0 0.00 67 7 9.46 TTN 0 genome.wustl.edu 37 2 179584942 179584942 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179584942 179584942 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.19695 p.G6565 0.849 pfam_Ig_I-set,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 - - 37 0 0.00 33 10 23.26 EEFSEC 0 genome.wustl.edu 37 3 127981041 127981041 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 127981041 127981041 C T SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.595 p.P199S 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 tier1 - - 34 0 0.00 37 20 35.09 ZNF281 0 genome.wustl.edu 37 1 200376611 200376611 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 200376611 200376611 A T SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known missense c.2223 p.F741L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 tier1 - - 70 0 0.00 68 23 25.27 CTPS1 0 genome.wustl.edu 37 1 41475839 41475839 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 41475839 41475839 C T SNP CTPS1 ENST00000372616 human ensembl 74_37 +1 known silent c.1698 p.T566 0.916 NULL pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS1 HGNC ENSG00000171793 tier1 - - 94 0 0.00 93 44 32.12 VSTM2A 0 genome.wustl.edu 37 7 54636899 54636899 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 54636899 54636899 C T SNP VSTM2A ENST00000404951 human ensembl 74_37 +1 putative missense c.917 p.P306L 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 tier1 - - 24 0 0.00 30 17 36.17 TRAF6 0 genome.wustl.edu 37 11 36511549 36511549 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 36511549 36511549 C A SNP TRAF6 ENST00000348124 human ensembl 74_37 -1 known missense c.1408 p.G470C 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 tier1 - - 129 0 0.00 121 36 22.78 SYNDIG1 0 genome.wustl.edu 37 20 24524039 24524039 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 24524039 24524039 G A SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known nonsense c.306 p.W102* 1.000 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 tier1 - - 50 0 0.00 66 17 20.48 MUC5B 0 genome.wustl.edu 37 11 1256380 1256380 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 1256380 1256380 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.2705 p.G902E 1.000 pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D 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 - - 35 0 0.00 44 14 24.14 CCDC157 0 genome.wustl.edu 37 22 30769697 30769697 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 30769697 30769697 G A SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known missense c.1447 p.E483K 0.213 NULL superfamily_Prefoldin,superfamily_t-SRE - no_errors CCDC157 HGNC ENSG00000187860 tier1 - - 39 0 0.00 48 20 29.41 MYOF 0 genome.wustl.edu 37 10 95157177 95157177 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 95157177 95157177 C T SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.1258 p.E420K 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 tier1 - - 76 0 0.00 33 24 42.11 BIRC6 0 genome.wustl.edu 37 2 32774388 32774388 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 32774388 32774388 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.12984 p.A4328 0.819 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 75 0 0.00 60 25 29.41 NEB 0 genome.wustl.edu 37 2 152512421 152512421 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 152512421 152512421 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.6612 p.Y2204 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 71 0 0.00 40 34 45.95 OR52E4 0 genome.wustl.edu 37 11 5905837 5905837 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5905837 5905837 T C SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known silent c.315 p.F105 0.041 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 tier1 - - 62 0 0.00 41 36 46.75 ATP13A4 0 genome.wustl.edu 37 3 193160292 193160292 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 193160292 193160292 C T SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.2206 p.E736K 0.249 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 tier1 - - 61 0 0.00 57 21 26.92 PLXNB2 0 genome.wustl.edu 37 22 50717402 50717402 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 50717402 50717402 G A SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.4428 p.A1476 0.142 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 - - 32 0 0.00 30 7 18.92 ATP2B2 0 genome.wustl.edu 37 3 10491104 10491104 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 10491104 10491104 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.124 p.A42T 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 tier1 - - 52 0 0.00 49 25 33.78 OR8D2 0 genome.wustl.edu 37 11 124189418 124189418 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 124189418 124189418 G A SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known missense c.676 p.L226F 0.277 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 tier1 - - 44 0 0.00 32 21 39.62 RPL23AP79 0 genome.wustl.edu 37 19 59097599 59097599 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 59097599 59097599 C T SNP RPL23AP79 ENST00000473164 human ensembl 74_37 +1 known rna NULL NULL 0.045 - - - no_errors RPL23AP79 HGNC ENSG00000213753 tier1 - - 39 0 0.00 31 13 29.55 OR5L1 0 genome.wustl.edu 37 11 55579328 55579328 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 55579328 55579328 C T SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.386 p.P129L 0.978 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 tier1 - - 53 0 0.00 59 35 37.23 ZNF767 0 genome.wustl.edu 37 7 149250006 149250006 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 149250006 149250006 G A SNP ZNF767 ENST00000463567 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors ZNF767 HGNC ENSG00000133624 tier1 - - 55 0 0.00 62 14 18.42 KIAA0195 0 genome.wustl.edu 37 17 73489030 73489030 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 73489030 73489030 G A SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.1933 p.E645K 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 tier1 - - 63 0 0.00 50 27 35.06 OR52N2 0 genome.wustl.edu 37 11 5841994 5841994 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5841994 5841994 C T SNP OR52N2 ENST00000317037 human ensembl 74_37 +1 known silent c.429 p.I143 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N2 HGNC ENSG00000180988 tier1 - - 49 0 0.00 55 7 11.29 GPR179 0 genome.wustl.edu 37 17 36484307 36484307 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 36484307 36484307 C T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.5145 p.E1715 0.031 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 30 0 0.00 30 10 25.00 RALGAPB 0 genome.wustl.edu 37 20 37202836 37202836 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 37202836 37202836 C T SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.4186 p.P1396S 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 tier1 - - 45 0 0.00 36 24 40.00 PSMB6 0 genome.wustl.edu 37 17 4701409 4701409 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 4701409 4701409 G A SNP PSMB6 ENST00000270586 human ensembl 74_37 +1 known missense c.538 p.G180S 1.000 pfam_Proteasome_sua/b,prints_Pept_T1A_subB pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB6 HGNC ENSG00000142507 tier1 - - 37 0 0.00 65 17 20.73 CSMD1 0 genome.wustl.edu 37 8 3216839 3216839 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 3216839 3216839 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.3142 p.D1048N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 tier1 - - 50 0 0.00 65 19 22.62 GPR126 0 genome.wustl.edu 37 6 142737080 142737080 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 142737080 142737080 C T SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known silent c.2817 p.F939 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 tier1 - - 43 0 0.00 47 23 32.86 GPR98 0 genome.wustl.edu 37 5 89969915 89969915 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 89969915 89969915 T G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.4974 p.N1658K 0.998 pfam_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 45 0 0.00 55 10 15.38 RPS20 0 genome.wustl.edu 37 8 56986679 56986679 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 56986679 56986679 C T SNP RPS20 ENST00000009589 human ensembl 74_37 -1 known missense c.43 p.V15M 1.000 NULL pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc - no_errors RPS20 HGNC ENSG00000008988 tier1 - - 80 0 0.00 74 45 37.82 OGT 0 genome.wustl.edu 37 X 70787569 70787569 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 70787569 70787569 C T SNP OGT ENST00000373719 human ensembl 74_37 +1 known missense c.2809 p.L937F 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 tier1 - - 19 0 0.00 16 16 50.00 COL24A1 0 genome.wustl.edu 37 1 86590696 86590696 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 86590696 86590696 C T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known silent c.1323 p.V441 0.992 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 71 0 0.00 38 22 36.67 PALD1 0 genome.wustl.edu 37 10 72289798 72289798 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 72289798 72289798 C T SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known nonsense c.442 p.Q148* 1.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 tier1 - - 47 0 0.00 46 12 20.69 PABPC3 0 genome.wustl.edu 37 13 25672009 25672009 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 25672009 25672009 G A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.1673 p.G558D 1.000 pfam_PABP_HYD,superfamily_PABP_HYD,smart_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 tier1 - - 79 0 0.00 60 15 20.00 RHOA 0 genome.wustl.edu 37 3 49413014 49413014 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49413014 49413014 G A SNP RHOA ENST00000418115 human ensembl 74_37 -1 known silent c.9 p.A3 1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 tier1 - - 51 0 0.00 43 11 20.37 LOC101929518 0 genome.wustl.edu 37 2 95601090 95601090 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 95601090 95601090 C T SNP LOC101929518 ENST00000568768 human ensembl 74_37 -1 known rna NULL NULL 0.356 - - - no_errors AC097374.2 Clone_based_vega_gene ENSG00000259848 tier1 - - 315 0 0.00 259 138 34.67 USH1G 0 genome.wustl.edu 37 17 72915934 72915934 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 72915934 72915934 C T SNP USH1G ENST00000319642 human ensembl 74_37 -1 known missense c.997 p.D333N 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 tier1 - - 65 0 0.00 74 12 13.95 MRVI1 0 genome.wustl.edu 37 11 10673657 10673657 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 10673657 10673657 G A SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.113 p.S38F 0.992 NULL pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 tier1 - - 58 0 0.00 52 18 25.71 C6orf58 0 genome.wustl.edu 37 6 127898407 127898407 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 127898407 127898407 C T SNP C6orf58 ENST00000329722 human ensembl 74_37 +1 known missense c.77 p.S26L 0.006 pfam_DUF781 pfam_DUF781 - no_errors C6orf58 HGNC ENSG00000184530 tier1 - - 74 0 0.00 46 28 37.84 AHDC1 0 genome.wustl.edu 37 1 27873850 27873850 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 27873850 27873850 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.4777 p.H1593Y 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 tier1 - - 59 0 0.00 85 34 28.57 PCDHB15 0 genome.wustl.edu 37 5 140626575 140626575 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140626575 140626575 G A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1429 p.D477N 0.999 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 PCDHB15 HGNC ENSG00000113248 tier1 - - 116 0 0.00 134 50 27.17 MEGF6 0 genome.wustl.edu 37 1 3407118 3407118 + Silent SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 3407118 3407118 G T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known silent c.4600 p.R1534 0.000 NULL pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 tier1 - - 60 0 0.00 72 16 18.18 POTEE 0 genome.wustl.edu 37 2 132021885 132021885 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 132021885 132021885 G A SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.2857 p.E953K 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 tier1 - - 91 0 0.00 126 15 10.64 COX7C 0 genome.wustl.edu 37 5 85916521 85916521 + R SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 85916521 85916521 G T SNP COX7C ENST00000505430 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors COX7C HGNC ENSG00000127184 tier1 - - 13 0 0.00 5 4 44.44 SETD1A 0 genome.wustl.edu 37 16 30976497 30976497 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30976497 30976497 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known silent c.1434 p.E478 1.000 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 SETD1A HGNC ENSG00000099381 tier1 - - 57 0 0.00 42 14 25.00 PNPLA2 0 genome.wustl.edu 37 11 823582 823582 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 823582 823582 G T SNP PNPLA2 ENST00000336615 human ensembl 74_37 +1 known missense c.752 p.R251L 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA2 HGNC ENSG00000177666 tier1 - - 50 0 0.00 76 33 30.00 DDX60L 0 genome.wustl.edu 37 4 169327143 169327143 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 169327143 169327143 C T SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known silent c.3171 p.K1057 0.998 superfamily_P-loop_NTPase pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 tier1 - - 90 0 0.00 60 48 44.44 KCNS3 0 genome.wustl.edu 37 2 18112493 18112493 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 18112493 18112493 C T SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.218 p.P73L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 tier1 - - 69 0 0.00 65 22 25.29 CSF1R 0 genome.wustl.edu 37 5 149460368 149460368 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 149460368 149460368 G A SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known missense c.269 p.P90L 0.048 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 tier1 - - 26 0 0.00 45 17 27.42 ARHGEF10L 0 genome.wustl.edu 37 1 18023601 18023601 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 18023601 18023601 C T SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.3566 p.S1189F 0.994 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 tier1 - - 14 0 0.00 12 4 25.00 VSNL1 0 genome.wustl.edu 37 2 17830793 17830793 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 17830793 17830793 C T SNP VSNL1 ENST00000295156 human ensembl 74_37 +1 known silent c.279 p.S93 0.986 pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors VSNL1 HGNC ENSG00000163032 tier1 - - 43 0 0.00 37 17 31.48 ST18 0 genome.wustl.edu 37 8 53079527 53079527 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 53079527 53079527 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known silent c.1089 p.K363 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 24 0 0.00 18 13 41.94 TTC5 0 genome.wustl.edu 37 14 20768978 20768978 + Splice_Site SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 20768978 20768978 C A SNP TTC5 ENST00000258821 human ensembl 74_37 -1 known splice_site c.185-1 e3-1 1.000 - - - no_errors TTC5 HGNC ENSG00000136319 tier1 - - 54 0 0.00 40 4 9.09 TMPRSS9 0 genome.wustl.edu 37 19 2416594 2416594 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 2416594 2416594 G A SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.1702 p.G568R 0.678 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 tier1 - - 25 0 0.00 43 12 21.82 ATM 0 genome.wustl.edu 37 11 108153445 108153445 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 108153445 108153445 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known silent c.3585 p.E1195 0.359 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 tier1 - - 43 0 0.00 25 17 40.48 SPIRE1 0 genome.wustl.edu 37 18 12463462 12463462 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 12463462 12463462 G A SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.1526 p.T509I 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 tier1 - - 52 0 0.00 41 31 43.06 DCAF4 0 genome.wustl.edu 37 14 73406981 73406981 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 73406981 73406981 C T SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known missense c.247 p.P83S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 tier1 - - 83 0 0.00 43 12 21.82 SSTR4 0 genome.wustl.edu 37 20 23017086 23017086 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 23017086 23017086 C T SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known silent c.966 p.F322 1.000 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt 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 tier1 - - 62 0 0.00 51 10 16.39 PCNXL3 0 genome.wustl.edu 37 11 65401773 65401773 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 65401773 65401773 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known silent c.4647 p.S1549 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 tier1 - - 17 0 0.00 13 11 45.83 ZNF69 0 genome.wustl.edu 37 19 12016599 12016599 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 12016599 12016599 G A SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.1387 p.E463K 0.335 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 ZNF69 HGNC ENSG00000198429 tier1 - - 61 0 0.00 54 32 37.21 PRMT5-AS1 0 genome.wustl.edu 37 14 23396032 23396032 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 23396032 23396032 G A SNP PRMT5-AS1 ENST00000587245 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRMT5-AS1 HGNC ENSG00000237054 tier1 - - 46 0 0.00 12 23 65.71 SCP2 0 genome.wustl.edu 37 1 53516325 53516325 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 53516325 53516325 C T SNP SCP2 ENST00000371514 human ensembl 74_37 +1 known silent c.1593 p.L531 1.000 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom - no_errors SCP2 HGNC ENSG00000116171 tier1 - - 53 0 0.00 45 28 38.36 KRT14 0 genome.wustl.edu 37 17 39739832 39739832 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 39739832 39739832 C T SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known missense c.1024 p.E342K 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 tier1 - - 44 0 0.00 35 12 25.53 OBSCN 0 genome.wustl.edu 37 1 228506684 228506684 + Frame_Shift_Del DEL C C - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 228506684 228506684 C - DEL OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_del c.14231 p.A4744fs 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 17 0 0.00 14 9 39.13 APBA1 0 genome.wustl.edu 37 9 72091029 72091029 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 72091029 72091029 C T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.1231 p.G411S 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 tier1 - - 62 0 0.00 45 6 11.76 TGDS 0 genome.wustl.edu 37 13 95230402 95230402 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 95230402 95230402 G A SNP TGDS ENST00000261296 human ensembl 74_37 -1 known nonsense c.682 p.Q228* 1.000 pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_D-bd - no_errors TGDS HGNC ENSG00000088451 tier1 - - 71 0 0.00 63 16 20.25 OR10AD1 0 genome.wustl.edu 37 12 48596332 48596332 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 48596332 48596332 C T SNP OR10AD1 ENST00000310248 human ensembl 74_37 -1 known silent c.744 p.V248 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AD1 HGNC ENSG00000172640 tier1 - - 70 0 0.00 72 16 18.18 DPYD 0 genome.wustl.edu 37 1 98165067 98165067 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 98165067 98165067 G A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.520 p.P174S 1.000 superfamily_Helical_ferredxn pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_tR_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 - - 76 0 0.00 68 32 32.00 KIAA0100 0 genome.wustl.edu 37 17 26955286 26955286 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 26955286 26955286 C T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.4591 p.G1531R 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 tier1 - - 81 0 0.00 77 35 31.25 ATRN 0 genome.wustl.edu 37 20 3562929 3562929 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 3562929 3562929 G A SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.2692 p.E898K 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 tier1 - - 53 0 0.00 50 31 38.27 LRIT3 0 genome.wustl.edu 37 4 110790995 110790995 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 110790995 110790995 C T SNP LRIT3 ENST00000594814 human ensembl 74_37 +1 known missense c.1090 p.H364Y 0.001 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT3 HGNC ENSG00000183423 tier1 - - 72 0 0.00 48 29 37.66 DH11 0 genome.wustl.edu 37 7 21723448 21723448 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 21723448 21723448 G A SNP DH11 ENST00000328843 human ensembl 74_37 +1 known missense c.5528 p.R1843Q 0.510 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH11 HGNC ENSG00000105877 tier1 - - 78 0 0.00 69 39 35.78 SI 0 genome.wustl.edu 37 3 164741542 164741542 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 164741542 164741542 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.2915 p.P972L 0.276 pfam_P_trefoil,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 52 0 0.00 67 21 23.86 SOGA1 0 genome.wustl.edu 37 20 35443579 35443579 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 35443579 35443579 C T SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.2266 p.G756R 1.000 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 tier1 - - 49 0 0.00 53 28 34.57 DMD 0 genome.wustl.edu 37 X 31462633 31462633 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 31462633 31462633 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.9049 p.L3017 0.931 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 - - 60 0 0.00 23 37 61.67 DDI1 0 genome.wustl.edu 37 11 103908223 103908223 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 103908223 103908223 G A SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.673 p.E225K 1.000 pfam_Peptidase_aspartic_DDI1-type pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 tier1 - - 26 0 0.00 53 15 22.06 XIRP2 0 genome.wustl.edu 37 2 168103070 168103070 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 168103070 168103070 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.5168 p.S1723F 0.998 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 50 0 0.00 37 26 41.27 MLEC 0 genome.wustl.edu 37 12 121131956 121131956 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 121131956 121131956 C T SNP MLEC ENST00000228506 human ensembl 74_37 +1 known nonsense c.298 p.Q100* 1.000 pfam_Malectin pfam_Malectin - no_errors MLEC HGNC ENSG00000110917 tier1 - - 91 0 0.00 54 32 37.21 CMYA5 0 genome.wustl.edu 37 5 79025711 79025711 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 79025711 79025711 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.1123 p.E375K 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 28 0 0.00 51 19 27.14 TRAPPC3 0 genome.wustl.edu 37 1 36602359 36602359 + R SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 36602359 36602359 C A SNP TRAPPC3 ENST00000462715 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRAPPC3 HGNC ENSG00000054116 tier1 - - 28 0 0.00 40 17 29.82 VN1R1 0 genome.wustl.edu 37 19 57967362 57967362 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 57967362 57967362 G A SNP VN1R1 ENST00000321039 human ensembl 74_37 -1 known missense c.493 p.P165S 0.007 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 tier1 - - 56 0 0.00 51 37 41.57 MYO16 0 genome.wustl.edu 37 13 109535436 109535436 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 109535436 109535436 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.1389 p.G463 0.602 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 39 0 0.00 30 13 30.23 DROSHA 0 genome.wustl.edu 37 5 31508871 31508871 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 31508871 31508871 C T SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.1444 p.E482K 1.000 NULL pfam_RNase_III_dom,pfam_dsR-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsR-bd_dom,pfscan_dsR-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 tier1 - - 65 0 0.00 86 15 14.85 KIAA1549 0 genome.wustl.edu 37 7 138601728 138601728 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 138601728 138601728 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.2644 p.E882K 0.006 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 30 0 0.00 40 27 40.30 LEMD2 0 genome.wustl.edu 37 6 33752145 33752145 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 33752145 33752145 G A SNP LEMD2 ENST00000293760 human ensembl 74_37 -1 known silent c.837 p.F279 1.000 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD2 HGNC ENSG00000161904 tier1 - - 45 0 0.00 29 23 44.23 OR51B6 0 genome.wustl.edu 37 11 5373240 5373240 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5373240 5373240 G A SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.503 p.R168Q 0.010 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 tier1 - - 40 0 0.00 39 27 40.91 TMEM233 0 genome.wustl.edu 37 12 120067675 120067675 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 120067675 120067675 G A SNP TMEM233 ENST00000426426 human ensembl 74_37 +1 known silent c.321 p.R107 0.002 NULL pfam_CD225/Dispanin_fam - no_errors TMEM233 HGNC ENSG00000224982 tier1 - - 28 0 0.00 25 5 16.67 TNR 0 genome.wustl.edu 37 1 175334385 175334385 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 175334385 175334385 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.2348 p.S783F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 36 0 0.00 57 6 9.52 SERPI7 0 genome.wustl.edu 37 X 105279334 105279334 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 105279334 105279334 C T SNP SERPI7 ENST00000327674 human ensembl 74_37 -1 known missense c.665 p.S222N 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPI7 HGNC ENSG00000123561 tier1 - - 24 0 0.00 26 8 23.53 GRPR 0 genome.wustl.edu 37 X 16168573 16168573 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 16168573 16168573 G A SNP GRPR ENST00000380289 human ensembl 74_37 +1 known missense c.559 p.E187K 0.504 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 tier1 - - 38 0 0.00 10 30 75.00 ARHGAP31 0 genome.wustl.edu 37 3 119120885 119120885 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 119120885 119120885 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.1286 p.P429L 0.998 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 - - 60 0 0.00 72 18 20.00 TPH2 0 genome.wustl.edu 37 12 72338446 72338446 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 72338446 72338446 G A SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.520 p.E174K 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 tier1 - - 22 0 0.00 33 6 15.38 SCIN 0 genome.wustl.edu 37 7 12644139 12644139 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 12644139 12644139 G A SNP SCIN ENST00000297029 human ensembl 74_37 +1 known missense c.517 p.E173K 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 tier1 - - 87 0 0.00 87 13 13.00 OR5M9 0 genome.wustl.edu 37 11 56230598 56230598 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 56230598 56230598 C T SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known missense c.280 p.G94R 0.284 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M9 HGNC ENSG00000150269 tier1 - - 17 0 0.00 15 7 31.82 KRT36 0 genome.wustl.edu 37 17 39643899 39643899 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 39643899 39643899 C T SNP KRT36 ENST00000328119 human ensembl 74_37 -1 known missense c.790 p.D264N 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 tier1 - - 48 0 0.00 38 17 30.91 CCDC147 0 genome.wustl.edu 37 10 106166549 106166549 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 106166549 106166549 C T SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known nonsense c.2254 p.Q752* 1.000 superfamily_Homeodomain-like superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 tier1 - - 54 0 0.00 54 10 15.62 UNC79 0 genome.wustl.edu 37 14 94089060 94089060 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 94089060 94089060 C T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.5547 p.S1849 0.287 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 56 0 0.00 21 16 42.11 LAMB2 0 genome.wustl.edu 37 3 49161903 49161903 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49161903 49161903 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known nonsense c.3252 p.W1084* 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 tier1 - - 12 0 0.00 18 13 41.94 FETUB 0 genome.wustl.edu 37 3 186370413 186370413 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 186370413 186370413 C T SNP FETUB ENST00000265029 human ensembl 74_37 +1 known missense c.1142 p.P381L 0.785 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 tier1 - - 32 0 0.00 30 6 16.22 TRPV1 0 genome.wustl.edu 37 17 3494426 3494426 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 3494426 3494426 G A SNP TRPV1 ENST00000174621 human ensembl 74_37 -1 known missense c.430 p.P144S 0.000 prints_TRPV1-4_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 tier1 rs201752726 - 16 0 0.00 19 12 38.71 ATF3 0 genome.wustl.edu 37 1 212792935 212792935 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 212792935 212792935 G A SNP ATF3 ENST00000492118 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors ATF3 HGNC ENSG00000162772 tier1 - - 90 0 0.00 83 37 30.58 ALG9 0 genome.wustl.edu 37 11 111711380 111711380 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 111711380 111711380 G A SNP ALG9 ENST00000531154 human ensembl 74_37 -1 known nonsense c.658 p.Q220* 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors ALG9 HGNC ENSG00000086848 tier1 - - 32 0 0.00 29 22 43.14 GPR97 0 genome.wustl.edu 37 16 57714230 57714230 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 57714230 57714230 G A SNP GPR97 ENST00000333493 human ensembl 74_37 +1 known missense c.721 p.G241R 0.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 tier1 - - 58 0 0.00 31 21 40.38 SLC44A4 0 genome.wustl.edu 37 6 31842372 31842372 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 31842372 31842372 G A SNP SLC44A4 ENST00000465707 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SLC44A4 HGNC ENSG00000204385 tier1 - - 24 0 0.00 23 9 28.12 C16orf96 0 genome.wustl.edu 37 16 4644704 4644704 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 4644704 4644704 G A SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known splice_site c.3028-1 e14-1 0.959 - - - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 97 0 0.00 87 40 31.50 HPS3 0 genome.wustl.edu 37 3 148871405 148871405 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 148871405 148871405 C T SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known missense c.1370 p.P457L 0.914 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 tier1 - - 41 0 0.00 34 15 30.61 NT5DC2 0 genome.wustl.edu 37 3 52562234 52562234 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52562234 52562234 C T SNP NT5DC2 ENST00000422318 human ensembl 74_37 -1 known missense c.736 p.E246K 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 tier1 - - 16 0 0.00 12 10 43.48 KBTBD7 0 genome.wustl.edu 37 13 41766984 41766984 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 41766984 41766984 G A SNP KBTBD7 ENST00000379483 human ensembl 74_37 -1 known silent c.1410 p.V470 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 tier1 - - 42 0 0.00 24 5 17.24 LOC339524 0 genome.wustl.edu 37 1 87598206 87598206 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 87598206 87598206 G A SNP LOC339524 ENST00000467438 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1052I5.1 Clone_based_vega_gene ENSG00000267272 tier1 - - 52 0 0.00 73 37 33.64 GALNT14 0 genome.wustl.edu 37 2 31133826 31133826 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 31133826 31133826 C A SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.1600 p.V534F 0.680 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 tier1 - - 27 0 0.00 34 7 17.07 FRAS1 0 genome.wustl.edu 37 4 79343054 79343054 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 79343054 79343054 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known silent c.4578 p.I1526 0.727 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 67 0 0.00 40 11 21.57 FAP 0 genome.wustl.edu 37 2 163074579 163074579 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 163074579 163074579 T A SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.679 p.N227Y 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 tier1 - - 48 0 0.00 33 34 50.75 DEFB125 0 genome.wustl.edu 37 20 76647 76647 + Silent SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 76647 76647 T A SNP DEFB125 ENST00000382410 human ensembl 74_37 +1 known silent c.60 p.G20 0.249 NULL NULL - no_errors DEFB125 HGNC ENSG00000178591 tier1 - - 39 0 0.00 29 18 38.30 CERS3 0 genome.wustl.edu 37 15 101024834 101024834 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 101024834 101024834 C T SNP CERS3 ENST00000284382 human ensembl 74_37 -1 known missense c.328 p.E110K 0.996 pirsf_Longevity_assurance_LAG1_LAC1,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS3 HGNC ENSG00000154227 tier1 - - 41 0 0.00 22 5 18.52 ZNF491 0 genome.wustl.edu 37 19 11917961 11917961 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 11917961 11917961 T G SNP ZNF491 ENST00000323169 human ensembl 74_37 +1 known missense c.1193 p.I398S 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 tier1 - - 49 0 0.00 39 30 43.48 WNT2 0 genome.wustl.edu 37 7 116918430 116918430 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 116918430 116918430 C T SNP WNT2 ENST00000265441 human ensembl 74_37 -1 known missense c.862 p.G288S 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 tier1 - - 18 0 0.00 18 9 33.33 BSN 0 genome.wustl.edu 37 3 49662558 49662558 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49662558 49662558 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.375 p.P125 0.999 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 33 0 0.00 34 24 41.38 FGFR1 0 genome.wustl.edu 37 8 38314944 38314944 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 38314944 38314944 G A SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known silent c.120 p.L40 1.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 tier1 - - 50 0 0.00 49 10 16.67 BTN1A1 0 genome.wustl.edu 37 6 26509372 26509372 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 26509372 26509372 C T SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known silent c.1551 p.I517 0.968 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 tier1 - - 55 0 0.00 22 36 62.07 RIT2 0 genome.wustl.edu 37 18 40500701 40500701 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 40500701 40500701 C T SNP RIT2 ENST00000282028 human ensembl 74_37 -1 known missense c.451 p.E151K 0.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Ras pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT2 HGNC ENSG00000152214 tier1 - - 66 0 0.00 19 43 69.35 FLJ27255 0 genome.wustl.edu 37 6 160009865 160009865 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 160009865 160009865 G A SNP FLJ27255 ENST00000430078 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP3-393E18.2 Clone_based_vega_gene ENSG00000237927 tier1 - - 40 0 0.00 50 21 29.58 NBR2 0 genome.wustl.edu 37 17 41290786 41290786 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 41290786 41290786 C T SNP NBR2 ENST00000356906 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors NBR2 HGNC ENSG00000198496 tier1 - - 174 0 0.00 174 28 13.86 FBN2 0 genome.wustl.edu 37 5 127681107 127681107 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 127681107 127681107 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.3159 p.P1053 0.992 pirsf_FBN,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 80 0 0.00 67 41 37.96 AWAT2 0 genome.wustl.edu 37 X 69261811 69261811 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 69261811 69261811 G A SNP AWAT2 ENST00000276101 human ensembl 74_37 -1 known silent c.849 p.V283 0.660 pfam_DAGAT pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 tier1 - - 21 0 0.00 3 17 85.00 ADAM8 0 genome.wustl.edu 37 10 135076717 135076717 + Silent SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 135076717 135076717 A C SNP ADAM8 ENST00000445355 human ensembl 74_37 -1 known silent c.2418 p.V806 0.986 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ENSG00000151651 tier1 - - 73 0 0.00 65 15 18.75 BACH1-IT1 0 genome.wustl.edu 37 21 30724022 30724022 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 30724022 30724022 C T SNP BACH1-IT1 ENST00000504298 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors BACH1-IT1 HGNC ENSG00000248476 tier1 - - 70 0 0.00 45 15 25.00 FCRL3 0 genome.wustl.edu 37 1 157665235 157665235 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 157665235 157665235 C T SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1313 p.G438E 0.935 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 86 0 0.00 93 31 25.00 CASP14 0 genome.wustl.edu 37 19 15164599 15164599 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 15164599 15164599 C T SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known missense c.233 p.P78L 0.003 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 tier1 - - 49 0 0.00 24 17 41.46 WDR87 0 genome.wustl.edu 37 19 38379309 38379309 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38379309 38379309 C T SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.5002 p.E1668K 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 41 0 0.00 30 17 36.17 TNP2 0 genome.wustl.edu 37 16 11362868 11362868 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 11362868 11362868 C T SNP TNP2 ENST00000312693 human ensembl 74_37 -1 known silent c.252 p.K84 0.000 pfam_TP2 pfam_TP2 - no_errors TNP2 HGNC ENSG00000178279 tier1 - - 101 0 0.00 99 48 32.65 FSTL5 0 genome.wustl.edu 37 4 162307514 162307514 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 162307514 162307514 C T SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known silent c.1929 p.K643 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 46 0 0.00 48 23 32.39 CAC1I 0 genome.wustl.edu 37 22 40075778 40075778 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 40075778 40075778 G A SNP CAC1I ENST00000336649 human ensembl 74_37 +1 known missense c.5464 p.G1822R 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CAC1I HGNC ENSG00000100346 tier1 - - 53 0 0.00 50 23 31.51 AP1S2 0 genome.wustl.edu 37 X 15851087 15851087 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 15851087 15851087 T C SNP AP1S2 ENST00000421527 human ensembl 74_37 -1 known missense c.596 p.K199R 0.995 NULL pfam_AP_mu_sigma_su,superfamily_Longin-like_dom - no_errors AP1S2 HGNC ENSG00000182287 tier1 - - 18 0 0.00 7 19 73.08 CHD6 0 genome.wustl.edu 37 20 40050121 40050121 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 40050121 40050121 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known silent c.5154 p.S1718 0.879 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_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 CHD6 HGNC ENSG00000124177 tier1 - - 43 0 0.00 44 31 41.33 MSTN 0 genome.wustl.edu 37 2 190924815 190924815 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 190924815 190924815 G A SNP MSTN ENST00000260950 human ensembl 74_37 -1 known silent c.720 p.T240 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 tier1 - - 40 0 0.00 35 5 12.50 SOD2 0 genome.wustl.edu 37 6 160182503 160182503 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 160182503 160182503 G A SNP SOD2 ENST00000535372 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors SOD2 HGNC ENSG00000112096 tier1 - - 48 0 0.00 60 36 37.50 RSPO3 0 genome.wustl.edu 37 6 127517048 127517048 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 127517048 127517048 G A SNP RSPO3 ENST00000368317 human ensembl 74_37 +1 known missense c.715 p.E239K 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO3 HGNC ENSG00000146374 tier1 - - 58 0 0.00 45 19 29.69 COBL 0 genome.wustl.edu 37 7 51150797 51150797 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 51150797 51150797 C T SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.1300 p.G434R 0.890 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 tier1 - - 88 0 0.00 134 35 20.71 MIR3689E 0 genome.wustl.edu 37 9 137742439 137742439 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 137742439 137742439 C T SNP MIR3689E ENST00000582479 human ensembl 74_37 -1 known rna NULL NULL 0.860 - - - no_errors MIR3689E HGNC ENSG00000266827 tier1 - - 87 0 0.00 54 38 41.30 FAM196B 0 genome.wustl.edu 37 5 169309827 169309827 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 169309827 169309827 G A SNP FAM196B ENST00000377365 human ensembl 74_37 -1 known missense c.1076 p.A359V 0.013 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 tier1 - - 51 0 0.00 40 29 42.03 EIF4B 0 genome.wustl.edu 37 12 53427627 53427627 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 53427627 53427627 G A SNP EIF4B ENST00000262056 human ensembl 74_37 +1 known silent c.1017 p.R339 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ENSG00000063046 tier1 - - 93 0 0.00 69 17 19.77 LRP2 0 genome.wustl.edu 37 2 170050305 170050305 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 170050305 170050305 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.8796 p.G2932 0.998 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 51 0 0.00 67 9 11.84 RHOU 0 genome.wustl.edu 37 1 228879287 228879287 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 228879287 228879287 G A SNP RHOU ENST00000366691 human ensembl 74_37 +1 known missense c.577 p.E193K 0.982 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOU HGNC ENSG00000116574 tier1 - - 27 0 0.00 50 13 20.63 LRRC56 0 genome.wustl.edu 37 11 552576 552576 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 552576 552576 C T SNP LRRC56 ENST00000270115 human ensembl 74_37 +1 known missense c.1189 p.P397S 0.005 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 tier1 - - 109 0 0.00 139 35 20.11 NLGN2 0 genome.wustl.edu 37 17 7320508 7320508 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 7320508 7320508 C T SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.1898 p.P633L 0.915 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 tier1 - - 15 0 0.00 11 11 50.00 HCN1 0 genome.wustl.edu 37 5 45262298 45262298 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 45262298 45262298 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.2398 p.L800 0.858 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 28 0 0.00 13 15 53.57 SPDYC 0 genome.wustl.edu 37 11 64939416 64939416 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 64939416 64939416 G T SNP SPDYC ENST00000377185 human ensembl 74_37 +1 known missense c.202 p.D68Y 0.998 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 tier1 - - 42 0 0.00 38 26 40.62 LRRD1 0 genome.wustl.edu 37 7 91792710 91792710 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 91792710 91792710 C T SNP LRRD1 ENST00000430130 human ensembl 74_37 -1 known missense c.1807 p.G603R 0.905 NULL pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death_domain - no_errors LRRD1 HGNC ENSG00000240720 tier1 - - 74 0 0.00 54 22 28.95 CYP2E1 0 genome.wustl.edu 37 10 135350608 135350608 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 135350608 135350608 C T SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known nonsense c.1009 p.R337* 0.042 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2E-like pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 tier1 rs200228968 GMAF=0.0005 30 0 0.00 36 6 14.29 MROH7-TTC4 0 genome.wustl.edu 37 1 55145059 55145059 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 55145059 55145059 G A SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.2173 p.E725K 0.986 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 tier1 - - 34 0 0.00 36 13 26.53 SLC25A10 0 genome.wustl.edu 37 17 79671380 79671380 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 79671380 79671380 C T SNP SLC25A10 ENST00000541223 human ensembl 74_37 +1 known missense c.181 p.P61S 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A10 HGNC ENSG00000183048 tier1 - - 32 0 0.00 45 20 30.77 SRRM5 0 genome.wustl.edu 37 19 44116755 44116755 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 44116755 44116755 C T SNP SRRM5 ENST00000526798 human ensembl 74_37 +1 known missense c.527 p.P176L 0.989 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 tier1 - - 64 0 0.00 49 38 43.18 GABRA6 0 genome.wustl.edu 37 5 161113237 161113237 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 161113237 161113237 C T SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known silent c.40 p.L14 0.010 prints_GABBAa6_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 tier1 - - 56 0 0.00 46 9 16.36 THRAP3 0 genome.wustl.edu 37 1 36752122 36752122 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 36752122 36752122 C T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known silent c.291 p.G97 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 tier1 - - 63 0 0.00 59 23 27.71 ZNF174 0 genome.wustl.edu 37 16 3458440 3458440 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 3458440 3458440 C T SNP ZNF174 ENST00000268655 human ensembl 74_37 +1 known missense c.745 p.P249S 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 tier1 - - 77 0 0.00 66 42 38.89 KLHL5 0 genome.wustl.edu 37 4 39116813 39116813 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 39116813 39116813 G A SNP KLHL5 ENST00000359687 human ensembl 74_37 +1 known missense c.2074 p.A692T 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 tier1 - - 55 0 0.00 46 33 41.77 SIGLEC12 0 genome.wustl.edu 37 19 52002723 52002723 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 52002723 52002723 G A SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known silent c.1056 p.T352 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 tier1 - - 40 0 0.00 49 19 27.94 MMP26 0 genome.wustl.edu 37 11 5011940 5011940 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5011940 5011940 G A SNP MMP26 ENST00000300762 human ensembl 74_37 +1 known missense c.433 p.G145R 0.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP26 HGNC ENSG00000167346 tier1 - - 58 0 0.00 55 15 21.43 KHNYN 0 genome.wustl.edu 37 14 24900847 24900847 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 24900847 24900847 C T SNP KHNYN ENST00000251343 human ensembl 74_37 +1 known missense c.380 p.A127V 1.000 NULL pfam_RNase_Zc3h12 - no_errors KHNYN HGNC ENSG00000100441 tier1 - - 22 0 0.00 9 7 43.75 MUM1 0 genome.wustl.edu 37 19 1369299 1369299 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1369299 1369299 C T SNP MUM1 ENST00000344663 human ensembl 74_37 +1 known silent c.1461 p.G487 0.316 NULL pfam_PWWP_dom - no_errors MUM1 HGNC ENSG00000160953 tier1 - - 106 0 0.00 129 44 25.29 SHANK3 0 genome.wustl.edu 37 22 51159802 51159802 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 51159802 51159802 C T SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known missense c.3589 p.P1197S 0.381 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 tier1 - - 85 0 0.00 75 51 40.48 G3BP1 0 genome.wustl.edu 37 5 151183530 151183530 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 151183530 151183530 C T SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known missense c.1279 p.R427C 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 tier1 - - 48 0 0.00 32 29 47.54 UBE2O 0 genome.wustl.edu 37 17 74395724 74395724 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 74395724 74395724 C T SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known silent c.1434 p.Q478 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 tier1 - - 33 0 0.00 31 13 29.55 PA 0 genome.wustl.edu 37 19 47999983 47999983 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 47999983 47999983 G A SNP PA ENST00000593785 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors PA HGNC ENSG00000105402 tier1 - - 24 0 0.00 26 7 21.21 OR2A12 0 genome.wustl.edu 37 7 143793092 143793092 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 143793092 143793092 G A SNP OR2A12 ENST00000408949 human ensembl 74_37 +1 known missense c.892 p.G298R 0.012 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A12 HGNC ENSG00000221858 tier1 - - 44 0 0.00 31 23 42.59 MIS18A 0 genome.wustl.edu 37 21 33651119 33651119 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 33651119 33651119 C T SNP MIS18A ENST00000290130 human ensembl 74_37 -1 known silent c.207 p.L69 0.007 NULL NULL - no_errors MIS18A HGNC ENSG00000159055 tier1 - - 33 0 0.00 28 26 48.15 BPIFA4P 0 genome.wustl.edu 37 20 31790413 31790413 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 31790413 31790413 C T SNP BPIFA4P ENST00000375465 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA4P HGNC ENSG00000183566 tier1 - - 51 0 0.00 50 29 35.80 CEP78 0 genome.wustl.edu 37 9 80861674 80861674 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 80861674 80861674 G A SNP CEP78 ENST00000376597 human ensembl 74_37 +1 known missense c.868 p.D290N 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors CEP78 HGNC ENSG00000148019 tier1 - - 56 0 0.00 58 7 10.77 CADM4 0 genome.wustl.edu 37 19 44131056 44131056 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 44131056 44131056 G A SNP CADM4 ENST00000222374 human ensembl 74_37 -1 known missense c.379 p.P127S 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM4 HGNC ENSG00000105767 tier1 - - 81 0 0.00 76 19 20.00 JHDM1D 0 genome.wustl.edu 37 7 139801930 139801930 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 139801930 139801930 C T SNP JHDM1D ENST00000397560 human ensembl 74_37 -1 known missense c.1459 p.G487R 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 tier1 - - 84 0 0.00 61 26 29.89 SAMD4B 0 genome.wustl.edu 37 19 39860580 39860580 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 39860580 39860580 G A SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known missense c.482 p.R161Q 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 tier1 - - 20 0 0.00 18 14 43.75 PLEKHG4 0 genome.wustl.edu 37 16 67318358 67318358 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 67318358 67318358 G A SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.1690 p.E564K 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 tier1 - - 29 0 0.00 10 14 58.33 MED1 0 genome.wustl.edu 37 17 37563928 37563928 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 37563928 37563928 G A SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.4546 p.R1516W 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 tier1 - - 49 0 0.00 31 16 34.04 PCDHA8 0 genome.wustl.edu 37 5 140221343 140221343 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140221343 140221343 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.437 p.R146K 0.023 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 76 0 0.00 74 29 28.16 C2orf71 0 genome.wustl.edu 37 2 29294163 29294163 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 29294163 29294163 G A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.2965 p.P989S 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 tier1 - - 39 0 0.00 42 16 27.59 CACNG5 0 genome.wustl.edu 37 17 64881281 64881281 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 64881281 64881281 C T SNP CACNG5 ENST00000307139 human ensembl 74_37 +1 known missense c.752 p.S251F 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 tier1 - - 29 0 0.00 39 17 30.36 KDM4B 0 genome.wustl.edu 37 19 5077412 5077412 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 5077412 5077412 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known silent c.711 p.A237 0.998 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 tier1 - - 70 0 0.00 48 16 25.00 B3GNT2 0 genome.wustl.edu 37 2 62449515 62449515 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 62449515 62449515 C T SNP B3GNT2 ENST00000301998 human ensembl 74_37 +1 known missense c.160 p.P54S 0.993 NULL pfam_Glyco_trans_31 - no_errors B3GNT2 HGNC ENSG00000170340 tier1 - - 45 0 0.00 36 6 14.29 PBRM1 0 genome.wustl.edu 37 3 52595909 52595909 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52595909 52595909 G A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known silent c.4162 p.L1388 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 - - 47 0 0.00 39 14 26.42 FYB 0 genome.wustl.edu 37 5 39153563 39153563 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 39153563 39153563 G A SNP FYB ENST00000540520 human ensembl 74_37 -1 known missense c.1309 p.P437S 0.837 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 tier1 - - 93 0 0.00 79 39 33.05 EXOC6B 0 genome.wustl.edu 37 2 72692419 72692419 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 72692419 72692419 T C SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known missense c.1850 p.K617R 1.000 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 tier1 - - 101 0 0.00 73 27 27.00 GSAP 0 genome.wustl.edu 37 7 76941247 76941247 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 76941247 76941247 G A SNP GSAP ENST00000257626 human ensembl 74_37 -1 known missense c.2384 p.S795F 0.083 NULL NULL - no_errors GSAP HGNC ENSG00000186088 tier1 - - 47 0 0.00 29 17 36.96 COL24A1 0 genome.wustl.edu 37 1 86283740 86283740 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 86283740 86283740 G A SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.3820 p.P1274S 0.999 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 60 0 0.00 98 18 15.52 CLCC1 0 genome.wustl.edu 37 1 109486218 109486218 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 109486218 109486218 C T SNP CLCC1 ENST00000356970 human ensembl 74_37 -1 known missense c.581 p.C194Y 0.780 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 tier1 - - 39 0 0.00 40 5 11.11 LRTM1 0 genome.wustl.edu 37 3 54958660 54958660 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 54958660 54958660 T A SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.590 p.K197I 0.976 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 47 0 0.00 34 7 17.07 BZRAP1 0 genome.wustl.edu 37 17 56386603 56386603 + Nonsense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 56386603 56386603 C A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known nonsense c.4030 p.E1344* 0.065 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 tier1 - - 58 0 0.00 53 26 32.91 PPP1R3A 0 genome.wustl.edu 37 7 113519973 113519973 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 113519973 113519973 C T SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1174 p.E392K 0.008 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 54 0 0.00 57 36 38.30 SPATA31D1 0 genome.wustl.edu 37 9 84606073 84606073 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 84606073 84606073 G A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.688 p.D230N 0.002 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 103 0 0.00 71 41 36.61 CLCN6 0 genome.wustl.edu 37 1 11879575 11879575 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 11879575 11879575 C A SNP CLCN6 ENST00000346436 human ensembl 74_37 +1 known missense c.310 p.L104I 1.000 superfamily_Cl-channel_core,prints_Cl_channel-6 pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 tier1 - - 66 0 0.00 77 30 28.04 ZMIZ2 0 genome.wustl.edu 37 7 44802946 44802946 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 44802946 44802946 G A SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known silent c.1794 p.L598 0.999 pfam_Znf_MIZ,pfscan_Znf_MIZ pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 tier1 - - 37 0 0.00 41 18 30.51 STXBP5L 0 genome.wustl.edu 37 3 120840491 120840491 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 120840491 120840491 C T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known silent c.609 p.S203 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_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 - - 53 0 0.00 48 23 32.39 SNHG14 0 genome.wustl.edu 37 15 25423754 25423754 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 25423754 25423754 C T SNP SNHG14 ENST00000441592 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 31 0 0.00 9 11 55.00 TXLNB 0 genome.wustl.edu 37 6 139563994 139563994 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 139563994 139563994 G A SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known missense c.1724 p.S575F 0.001 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 tier1 - - 32 0 0.00 23 12 34.29 TST 0 genome.wustl.edu 37 22 37414344 37414344 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 37414344 37414344 C T SNP TST ENST00000249042 human ensembl 74_37 -1 known missense c.430 p.E144K 0.988 superfamily_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC ENSG00000128311 tier1 - - 55 0 0.00 55 28 33.73 RYR2 0 genome.wustl.edu 37 1 237758910 237758910 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 237758910 237758910 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.4543 p.L1515 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 44 0 0.00 78 11 12.36 DNMBP 0 genome.wustl.edu 37 10 101716781 101716781 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 101716781 101716781 G A SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known silent c.450 p.A150 0.999 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 tier1 - - 81 0 0.00 63 43 40.57 MARK2 0 genome.wustl.edu 37 11 63667577 63667577 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 63667577 63667577 C T SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.763 p.L255F 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 tier1 - - 66 0 0.00 61 33 35.11 ARHGEF5 0 genome.wustl.edu 37 7 144068308 144068308 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 144068308 144068308 G A SNP ARHGEF5 ENST00000056217 human ensembl 74_37 +1 known missense c.3586 p.A1196T 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ENSG00000050327 tier1 - - 277 0 0.00 301 34 10.12 C3orf20 0 genome.wustl.edu 37 3 14813645 14813645 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 14813645 14813645 G A SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.2567 p.G856E 0.994 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 tier1 - - 56 0 0.00 65 10 13.33 SLC25A20 0 genome.wustl.edu 37 3 48896046 48896046 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 48896046 48896046 G A SNP SLC25A20 ENST00000319017 human ensembl 74_37 -1 known missense c.737 p.P246L 1.000 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 SLC25A20 HGNC ENSG00000178537 tier1 - - 65 0 0.00 55 30 35.29 NELL1 0 genome.wustl.edu 37 11 21305645 21305645 + R SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 21305645 21305645 A G SNP NELL1 ENST00000529218 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 56 0 0.00 80 17 17.53 C11orf82 0 genome.wustl.edu 37 11 82643941 82643941 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 82643941 82643941 T C SNP C11orf82 ENST00000430323 human ensembl 74_37 +1 known missense c.1561 p.S521P 0.001 NULL pfam_Rep_factor-A_C,superfamily_-bd_OB-fold - no_errors C11orf82 HGNC ENSG00000165490 tier1 - - 76 0 0.00 46 22 32.35 MCM3AP 0 genome.wustl.edu 37 21 47662715 47662715 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47662715 47662715 C T SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known splice_site c.5426+1 e25+1 1.000 - - - no_errors MCM3AP HGNC ENSG00000160294 tier1 - - 33 0 0.00 56 24 30.00 CDHR1 0 genome.wustl.edu 37 10 85967952 85967952 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 85967952 85967952 G A SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.986 p.G329E 0.509 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 tier1 - - 29 0 0.00 31 10 24.39 FASTK 0 genome.wustl.edu 37 7 150776005 150776005 + Silent SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 150776005 150776005 C G SNP FASTK ENST00000297532 human ensembl 74_37 -1 known silent c.609 p.G203 0.999 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 tier1 - - 51 0 0.00 52 40 43.48 PRMT6 0 genome.wustl.edu 37 1 107600229 107600229 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 107600229 107600229 G A SNP PRMT6 ENST00000370078 human ensembl 74_37 +1 known missense c.892 p.G298R 0.853 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tR_Trfase_Trm5/Tyw2 - no_errors PRMT6 HGNC ENSG00000198890 tier1 - - 36 0 0.00 44 17 27.87 VCAM1 0 genome.wustl.edu 37 1 101196794 101196794 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 101196794 101196794 C T SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known silent c.1245 p.L415 0.000 NULL pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 tier1 rs149304647 - 50 0 0.00 48 23 32.39 TFIP11 0 genome.wustl.edu 37 22 26895474 26895474 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 26895474 26895474 C T SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.925 p.E309K 1.000 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 tier1 - - 28 0 0.00 18 13 41.94 MAP2K5 0 genome.wustl.edu 37 15 67950923 67950923 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 67950923 67950923 G C SNP MAP2K5 ENST00000178640 human ensembl 74_37 +1 known missense c.769 p.E257Q 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K5 HGNC ENSG00000137764 tier1 - - 101 0 0.00 29 39 57.35 C8orf22 0 genome.wustl.edu 37 8 49985427 49985427 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 49985427 49985427 G A SNP C8orf22 ENST00000303202 human ensembl 74_37 +1 known missense c.38 p.R13K 0.930 NULL NULL - no_errors C8orf22 HGNC ENSG00000168333 tier1 - - 102 0 0.00 88 29 24.79 RNMTL1 0 genome.wustl.edu 37 17 685779 685779 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 685779 685779 C T SNP RNMTL1 ENST00000304478 human ensembl 74_37 +1 known missense c.161 p.P54L 0.019 NULL pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd - no_errors RNMTL1 HGNC ENSG00000171861 tier1 - - 30 0 0.00 40 13 24.53 ZNF571 0 genome.wustl.edu 37 19 38046817 38046817 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38046817 38046817 C T SNP ZNF571 ENST00000590751 human ensembl 74_37 -1 putative missense c.383 p.G128E 0.567 superfamily_FMuLV_rcpt-bd pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_FMuLV_rcpt-bd,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 tier1 - - 41 0 0.00 53 16 23.19 ATAD3B 0 genome.wustl.edu 37 1 1412669 1412669 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 1412669 1412669 C T SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known missense c.221 p.A74V 1.000 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 tier1 rs148312059 - 65 0 0.00 37 23 37.70 ATP1A3 0 genome.wustl.edu 37 19 42482804 42482804 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 42482804 42482804 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.1584 p.F528 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC 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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 tier1 - - 29 0 0.00 17 15 46.88 NOD1 0 genome.wustl.edu 37 7 30490913 30490913 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 30490913 30490913 G A SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.2120 p.A707V 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 tier1 - - 37 0 0.00 55 16 22.54 TRPM8 0 genome.wustl.edu 37 2 234915549 234915549 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 234915549 234915549 A T SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.3183 p.E1061D 0.997 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 tier1 - - 93 0 0.00 45 26 36.62 PCDHA11 0 genome.wustl.edu 37 5 140250273 140250273 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140250273 140250273 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1585 p.L529 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 89 0 0.00 95 47 32.87 GLRA3 0 genome.wustl.edu 37 4 175598335 175598335 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 175598335 175598335 G A SNP GLRA3 ENST00000274093 human ensembl 74_37 -1 known missense c.821 p.S274L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC ENSG00000145451 tier1 - - 47 0 0.00 48 20 29.41 LHFPL5 0 genome.wustl.edu 37 6 35787301 35787301 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 35787301 35787301 C T SNP LHFPL5 ENST00000496656 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LHFPL5 HGNC ENSG00000197753 tier1 - - 32 0 0.00 43 8 15.69 HCFC1 0 genome.wustl.edu 37 X 153220527 153220527 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 153220527 153220527 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.3323 p.P1108L 0.994 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 tier1 - - 9 0 0.00 11 14 56.00 ENSG00000177553 0 genome.wustl.edu 37 1 11839186 11839186 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 11839186 11839186 C T SNP ENSG00000177553 ENST00000376620 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-56N19.5 Clone_based_vega_gene ENSG00000177553 tier1 - - 90 0 0.00 94 23 19.49 COL4A3 0 genome.wustl.edu 37 2 228104875 228104875 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 228104875 228104875 C T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.161 p.P54L 0.844 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 51 0 0.00 40 22 35.48 RBBP8 0 genome.wustl.edu 37 18 20572926 20572926 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 20572926 20572926 C T SNP RBBP8 ENST00000327155 human ensembl 74_37 +1 known missense c.1136 p.S379F 1.000 NULL pfam_CtIP_N,pfam_D-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 tier1 - - 132 0 0.00 127 34 20.99 ITIH1 0 genome.wustl.edu 37 3 52817259 52817259 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52817259 52817259 G A SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known missense c.1129 p.G377R 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 tier1 - - 69 0 0.00 65 30 31.58 CCDC157 0 genome.wustl.edu 37 22 30766813 30766813 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 30766813 30766813 C T SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known silent c.919 p.L307 0.978 superfamily_t-SRE superfamily_Prefoldin,superfamily_t-SRE - no_errors CCDC157 HGNC ENSG00000187860 tier1 - - 27 0 0.00 17 17 50.00 SPG7 0 genome.wustl.edu 37 16 89623560 89623560 + R SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 89623560 89623560 C A SNP SPG7 ENST00000565891 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPG7 HGNC ENSG00000197912 tier1 - - 23 0 0.00 9 3 25.00 GRM5 0 genome.wustl.edu 37 11 88780694 88780694 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 88780694 88780694 G A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.347 p.S116F 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 tier1 - - 52 0 0.00 45 33 42.31 CD163L1 0 genome.wustl.edu 37 12 7522176 7522176 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 7522176 7522176 A T SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.3816 p.D1272E 0.995 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 tier1 - - 50 0 0.00 28 20 41.67 BST1 0 genome.wustl.edu 37 4 15716985 15716985 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 15716985 15716985 G A SNP BST1 ENST00000265016 human ensembl 74_37 +1 known splice_site c.611+1 e5+1 1.000 - - - no_errors BST1 HGNC ENSG00000109743 tier1 - - 81 0 0.00 61 42 40.78 RFPL2 0 genome.wustl.edu 37 22 32586917 32586917 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 32586917 32586917 G A SNP RFPL2 ENST00000400237 human ensembl 74_37 -1 known missense c.979 p.H327Y 0.300 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 tier1 - - 84 0 0.00 97 32 24.81 ASTN1 0 genome.wustl.edu 37 1 176918416 176918416 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 176918416 176918416 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.1983 p.S661 0.000 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 43 0 0.00 60 27 31.03 MYRIP 0 genome.wustl.edu 37 3 40275400 40275400 + Silent SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 40275400 40275400 C G SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known silent c.1956 p.V652 1.000 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 tier1 - - 53 0 0.00 65 18 21.69 RELN 0 genome.wustl.edu 37 7 103301975 103301975 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 103301975 103301975 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known splice_site c.1290-1 e12-1 1.000 - - - no_errors RELN HGNC ENSG00000189056 tier1 - - 41 0 0.00 29 24 45.28 ADAMTS2 0 genome.wustl.edu 37 5 178541189 178541189 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 178541189 178541189 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.3315 p.R1105 0.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 47 0 0.00 43 32 42.11 LYPLA1 0 genome.wustl.edu 37 8 54960525 54960525 + R SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 54960525 54960525 C A SNP LYPLA1 ENST00000519272 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LYPLA1 HGNC ENSG00000120992 tier1 - - 74 0 0.00 64 28 30.43 HIVEP3 0 genome.wustl.edu 37 1 41979136 41979136 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 41979136 41979136 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.5756 p.S1919L 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 12 0 0.00 12 4 25.00 MBD6 0 genome.wustl.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 57921401 57921401 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2194 p.Q734fs 1.000 NULL superfamily_D-bd_dom,smart_Methyl_CpG_D-bd,pfscan_Methyl_CpG_D-bd - no_errors MBD6 HGNC ENSG00000166987 tier1 45 0 0.00 58 8 12.12 ZNF549 0 genome.wustl.edu 37 19 58046563 58046563 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 58046563 58046563 G A SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known missense c.124 p.G42S 0.522 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 ZNF549 HGNC ENSG00000121406 tier1 - - 73 0 0.00 62 30 32.61 BTBD18 0 genome.wustl.edu 37 11 57513366 57513366 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 57513366 57513366 C T SNP BTBD18 ENST00000422652 human ensembl 74_37 -1 known missense c.379 p.G127S 1.000 smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC ENSG00000233436 tier1 - - 26 0 0.00 27 5 15.62 CLEC18C 0 genome.wustl.edu 37 16 70208238 70208238 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 70208238 70208238 C T SNP CLEC18C ENST00000314151 human ensembl 74_37 +1 known silent c.57 p.A19 0.974 NULL pfam_C-type_lectin,pfam_CAP_domain,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,prints_Allrgn_V5/Tpx1,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CLEC18C HGNC ENSG00000157335 tier1 - - 31 0 0.00 19 13 39.39 OR2A14 0 genome.wustl.edu 37 7 143826481 143826481 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 143826481 143826481 C T SNP OR2A14 ENST00000408899 human ensembl 74_37 +1 known silent c.276 p.S92 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A14 HGNC ENSG00000221938 tier1 - - 39 0 0.00 25 19 43.18 OR4F15 0 genome.wustl.edu 37 15 102358585 102358585 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 102358585 102358585 C T SNP OR4F15 ENST00000332238 human ensembl 74_37 +1 known missense c.196 p.L66F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F15 HGNC ENSG00000182854 tier1 - - 91 0 0.00 36 34 48.57 WDHD1 0 genome.wustl.edu 37 14 55480289 55480289 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 55480289 55480289 C A SNP WDHD1 ENST00000360586 human ensembl 74_37 -1 known missense c.103 p.G35C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 tier1 - - 44 0 0.00 27 4 12.90 FBXL13 0 genome.wustl.edu 37 7 102517933 102517933 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 102517933 102517933 C T SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known missense c.1616 p.G539E 1.000 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 tier1 - - 118 0 0.00 97 54 35.76 ZIC3 0 genome.wustl.edu 37 X 136652049 136652049 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 136652049 136652049 G A SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known splice_site c.1225-1 e3-1 1.000 - - - no_errors ZIC3 HGNC ENSG00000156925 tier1 - - 28 0 0.00 15 27 64.29 STAB1 0 genome.wustl.edu 37 3 52557975 52557975 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52557975 52557975 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.7484 p.G2495E 0.520 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 29 0 0.00 35 11 23.40 TGM2 0 genome.wustl.edu 37 20 36760823 36760823 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 36760823 36760823 G A SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known silent c.1695 p.A565 0.998 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 tier1 - - 64 0 0.00 44 33 42.31 ATP8B2 0 genome.wustl.edu 37 1 154315646 154315646 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 154315646 154315646 G A SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.1610 p.R537K 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 tier1 - - 15 0 0.00 17 9 34.62 ATXN7L2 0 genome.wustl.edu 37 1 110032568 110032568 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 110032568 110032568 G A SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known missense c.1054 p.E352K 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 tier1 - - 41 0 0.00 27 32 54.24 TFAP2D 0 genome.wustl.edu 37 6 50718997 50718997 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 50718997 50718997 A C SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.1099 p.I367L 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 tier1 - - 101 0 0.00 74 12 13.95 TNC 0 genome.wustl.edu 37 9 117852886 117852886 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 117852886 117852886 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.412 p.E138K 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 18 0 0.00 32 8 20.00 CASZ1 0 genome.wustl.edu 37 1 10719870 10719870 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 10719870 10719870 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.1229 p.P410L 0.796 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 30 0 0.00 48 6 11.11 PTGFRN 0 genome.wustl.edu 37 1 117484465 117484465 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 117484465 117484465 T C SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known missense c.178 p.F60L 1.000 pfam_Ig_V-set,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 - - 41 0 0.00 30 18 36.73 LOC101929006 0 genome.wustl.edu 37 6 29231725 29231725 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 29231725 29231725 G A SNP LOC101929006 ENST00000441381 human ensembl 74_37 +1 known rna NULL NULL 0.423 - - - no_errors XXbac-BPG308J9.3 Clone_based_vega_gene ENSG00000232505 tier1 - - 48 0 0.00 56 14 20.00 ANKHD1 0 genome.wustl.edu 37 5 139905961 139905961 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 139905961 139905961 T A SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.4873 p.Y1625N 0.996 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 tier1 - - 74 0 0.00 72 23 24.21 NUP85 0 genome.wustl.edu 37 17 73221887 73221887 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 73221887 73221887 C T SNP NUP85 ENST00000245544 human ensembl 74_37 +1 known missense c.950 p.P317L 1.000 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 tier1 - - 62 0 0.00 59 24 28.92 WDR64 0 genome.wustl.edu 37 1 241938503 241938503 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 241938503 241938503 G A SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known missense c.2497 p.G833R 0.999 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 tier1 - - 90 0 0.00 85 39 30.95 ANGPTL2 0 genome.wustl.edu 37 9 129870370 129870370 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 129870370 129870370 G A SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known missense c.641 p.P214L 0.996 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 tier1 - - 10 0 0.00 17 11 39.29 USP27X-AS1 0 genome.wustl.edu 37 X 49642959 49642959 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 49642959 49642959 C T SNP USP27X-AS1 ENST00000437322 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors USP27X-AS1 HGNC ENSG00000234390 tier1 - - 38 0 0.00 16 39 70.91 CSMD1 0 genome.wustl.edu 37 8 2857542 2857542 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 2857542 2857542 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8144 p.G2715E 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 tier1 - - 49 0 0.00 44 13 22.81 UBQLN3 0 genome.wustl.edu 37 11 5529648 5529648 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5529648 5529648 G A SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.1141 p.P381S 0.033 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 tier1 - - 59 0 0.00 63 26 28.89 LOXL2 0 genome.wustl.edu 37 8 23155618 23155618 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 23155618 23155618 C T SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.2263 p.E755K 1.000 NULL pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 tier1 - - 36 0 0.00 38 20 34.48 SEPHS2 0 genome.wustl.edu 37 16 30456071 30456071 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30456071 30456071 G A SNP SEPHS2 ENST00000542752 human ensembl 74_37 -1 known silent c.807 p.S269 0.786 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS2 HGNC ENSG00000179918 tier1 - - 42 0 0.00 48 14 22.58 BSN 0 genome.wustl.edu 37 3 49699682 49699682 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49699682 49699682 G A SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.10404 p.R3468 0.994 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 122 0 0.00 136 61 30.96 GPC5 0 genome.wustl.edu 37 13 92797165 92797165 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 92797165 92797165 G A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.1484 p.S495N 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 tier1 - - 93 0 0.00 65 16 19.75 MROH2A 0 genome.wustl.edu 37 2 234731131 234731131 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 234731131 234731131 C T SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel silent c.3795 p.A1265 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 tier1 - - 50 0 0.00 36 19 33.93 DYNLRB2 0 genome.wustl.edu 37 16 80583535 80583535 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 80583535 80583535 C T SNP DYNLRB2 ENST00000305904 human ensembl 74_37 +1 known silent c.234 p.I78 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type - no_errors DYNLRB2 HGNC ENSG00000168589 tier1 - - 60 0 0.00 47 12 20.34 HDAC1 0 genome.wustl.edu 37 1 32792741 32792741 + R SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 32792741 32792741 C A SNP HDAC1 ENST00000463172 human ensembl 74_37 +1 known rna NULL NULL 0.130 - - - no_errors HDAC1 HGNC ENSG00000116478 tier1 - - 46 0 0.00 48 17 26.15 GPR156 0 genome.wustl.edu 37 3 119886958 119886958 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 119886958 119886958 G A SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.1366 p.L456F 0.752 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 tier1 - - 85 0 0.00 81 18 18.18 GVINP1 0 genome.wustl.edu 37 11 6742292 6742292 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 6742292 6742292 G A SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 39 0 0.00 33 15 31.25 MARK2 0 genome.wustl.edu 37 11 63667576 63667576 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 63667576 63667576 C T SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known silent c.762 p.N254 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 tier1 - - 68 0 0.00 61 34 35.79 CNTP3 0 genome.wustl.edu 37 9 39118222 39118222 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 39118222 39118222 G A SNP CNTP3 ENST00000297668 human ensembl 74_37 -1 known silent c.2115 p.T705 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP3 HGNC ENSG00000106714 tier1 - - 121 0 0.00 53 50 48.54 XYLT1 0 genome.wustl.edu 37 16 17211525 17211525 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 17211525 17211525 C T SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known silent c.2535 p.S845 0.773 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 tier1 - - 59 0 0.00 57 17 22.97 ARF3 0 genome.wustl.edu 37 12 49332417 49332417 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 49332417 49332417 G A SNP ARF3 ENST00000485410 human ensembl 74_37 -1 known rna NULL NULL 0.669 - - - no_errors ARF3 HGNC ENSG00000134287 tier1 - - 50 0 0.00 56 17 23.29 CEACAM18 0 genome.wustl.edu 37 19 51986563 51986563 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 51986563 51986563 C T SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known silent c.1149 p.S383 0.006 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 tier1 - - 35 0 0.00 37 22 37.29 MCM3AP-AS1 0 genome.wustl.edu 37 21 47669514 47669514 + R SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47669514 47669514 T G SNP MCM3AP-AS1 ENST00000414659 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 tier1 - - 37 0 0.00 40 15 27.27 MROH7-TTC4 0 genome.wustl.edu 37 1 55118895 55118895 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 55118895 55118895 C T SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.296 p.S99F 0.000 NULL superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 tier1 - - 28 0 0.00 38 11 22.45 ZAP70 0 genome.wustl.edu 37 2 98351000 98351000 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 98351000 98351000 G A SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.907 p.D303N 0.055 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 tier1 - - 34 0 0.00 39 24 38.10 FCHO2 0 genome.wustl.edu 37 5 72370583 72370583 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 72370583 72370583 C T SNP FCHO2 ENST00000341845 human ensembl 74_37 +1 known missense c.1594 p.P532S 1.000 pfam_Muniscin_C-term_mu_dom pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 tier1 - - 56 0 0.00 45 15 25.00 PI4KA 0 genome.wustl.edu 37 22 21174081 21174081 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 21174081 21174081 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.637 p.P213S 0.461 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 76 0 0.00 51 20 28.17 SNX25 0 genome.wustl.edu 37 4 186231899 186231899 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 186231899 186231899 C T SNP SNX25 ENST00000264694 human ensembl 74_37 +1 known silent c.781 p.L261 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 tier1 - - 72 0 0.00 110 21 16.03 TNFRSF8 0 genome.wustl.edu 37 1 12186066 12186066 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 12186066 12186066 C T SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known silent c.1212 p.F404 0.762 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 tier1 - - 20 0 0.00 25 8 24.24 SRBD1 0 genome.wustl.edu 37 2 45780862 45780862 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 45780862 45780862 G A SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known missense c.1417 p.P473S 1.000 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_R-bd_dom,superfamily_-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_R-binding_domain_S1,pfscan_Rbsml_prot_S1_R-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 tier1 - - 56 0 0.00 72 16 18.18 BPTF 0 genome.wustl.edu 37 17 65962707 65962707 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 65962707 65962707 C T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.8852 p.P2951L 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 tier1 - - 46 0 0.00 37 21 36.21 IFT172 0 genome.wustl.edu 37 2 27684264 27684264 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 27684264 27684264 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.2314 p.L772F 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 29 0 0.00 18 9 33.33 HTR1D 0 genome.wustl.edu 37 1 23519970 23519970 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 23519970 23519970 G A SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known missense c.743 p.S248F 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1D_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 tier1 - - 39 0 0.00 42 18 30.00 ZNF804B 0 genome.wustl.edu 37 7 88962742 88962742 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 88962742 88962742 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.446 p.G149E 0.997 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 68 0 0.00 62 38 38.00 LOC101927516 0 genome.wustl.edu 37 4 141055231 141055231 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 141055231 141055231 C T SNP LOC101927516 ENST00000509184 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-392B6.1 Clone_based_vega_gene ENSG00000250698 tier1 - - 36 0 0.00 30 20 40.00 BICC1 0 genome.wustl.edu 37 10 60573665 60573665 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 60573665 60573665 G A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2452 p.D818N 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 101 0 0.00 79 61 43.57 NLRP7 0 genome.wustl.edu 37 19 55450638 55450638 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 55450638 55450638 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known nonsense c.1633 p.Q545* 0.022 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 tier1 - - 36 0 0.00 21 9 30.00 PRSS35 0 genome.wustl.edu 37 6 84233768 84233768 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 84233768 84233768 C T SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.608 p.S203F 0.242 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 tier1 - - 30 0 0.00 39 12 23.53 GREB1L 0 genome.wustl.edu 37 18 19079818 19079818 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 19079818 19079818 G A SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known missense c.3520 p.A1174T 0.001 NULL superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 tier1 - - 105 0 0.00 114 20 14.93 KRT4 0 genome.wustl.edu 37 12 53207482 53207482 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 53207482 53207482 G A SNP KRT4 ENST00000293774 human ensembl 74_37 -1 known missense c.583 p.P195S 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 tier1 - - 60 0 0.00 69 18 20.69 FAM83G 0 genome.wustl.edu 37 17 18881549 18881549 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 18881549 18881549 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.1430 p.P477L 0.536 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 36 0 0.00 29 16 35.56 ABCA7 0 genome.wustl.edu 37 19 1062213 1062213 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1062213 1062213 C T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known silent c.5613 p.Y1871 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 tier1 - - 32 0 0.00 33 4 10.81 ZSWIM8 0 genome.wustl.edu 37 10 75552596 75552596 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 75552596 75552596 G A SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.2299 p.E767K 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 - - 48 0 0.00 50 8 13.79 UNC93B1 0 genome.wustl.edu 37 11 67766694 67766694 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 67766694 67766694 G A SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known silent c.636 p.S212 1.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 tier1 - - 42 0 0.00 53 20 27.40 NLGN1 0 genome.wustl.edu 37 3 173998573 173998573 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 173998573 173998573 C T SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.2072 p.P691L 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 24 0 0.00 27 13 32.50 TIGL1 0 genome.wustl.edu 37 1 32050260 32050260 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 32050260 32050260 G A SNP TIGL1 ENST00000463112 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TIGL1 HGNC ENSG00000142910 tier1 - - 42 0 0.00 33 18 35.29 DOCK2 0 genome.wustl.edu 37 5 169446041 169446041 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 169446041 169446041 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3310 p.R1104W 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 35 0 0.00 27 19 41.30 ACE 0 genome.wustl.edu 37 17 61558520 61558520 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 61558520 61558520 C T SNP ACE ENST00000290866 human ensembl 74_37 +1 known missense c.916 p.L306F 0.550 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 tier1 - - 56 0 0.00 61 7 10.29 ADNP2 0 genome.wustl.edu 37 18 77896527 77896527 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 77896527 77896527 C T SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known silent c.3231 p.S1077 0.001 superfamily_Homeodomain-like,smart_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 tier1 - - 81 0 0.00 24 27 52.94 ZFYVE9 0 genome.wustl.edu 37 1 52703568 52703568 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 52703568 52703568 G A SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.479 p.R160K 1.000 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 - - 76 0 0.00 63 40 38.83 CUX2 0 genome.wustl.edu 37 12 111776258 111776258 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 111776258 111776258 T C SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.3365 p.M1122T 1.000 superfamily_Lambda_D-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 tier1 - - 34 0 0.00 34 15 30.00 STX16-NPEPL1 0 genome.wustl.edu 37 20 57248696 57248696 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 57248696 57248696 C T SNP STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known missense c.802 p.L268F 1.000 pfam_T_SRE_dom,superfamily_t-SRE,smart_T_SRE_dom,pfscan_T_SRE_dom pfam_T_SRE_dom,pfam_Syntaxin_N,superfamily_t-SRE,smart_T_SRE_dom,pfscan_T_SRE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 tier1 - - 67 0 0.00 81 14 14.74 CREG1 0 genome.wustl.edu 37 1 167517278 167517278 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 167517278 167517278 G A SNP CREG1 ENST00000370509 human ensembl 74_37 -1 known silent c.435 p.P145 1.000 superfamily_Split_barrel_FMN-bd,pirsf_CREG superfamily_Split_barrel_FMN-bd,pirsf_CREG - no_errors CREG1 HGNC ENSG00000143162 tier1 - - 73 0 0.00 61 56 47.86 AQP5 0 genome.wustl.edu 37 12 50355889 50355889 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 50355889 50355889 G A SNP AQP5 ENST00000293599 human ensembl 74_37 +1 known missense c.89 p.G30D 0.997 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 tier1 - - 75 0 0.00 54 25 31.65 ANKRD30A 0 genome.wustl.edu 37 10 37447469 37447469 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 37447469 37447469 C T SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.1687 p.P563S 0.014 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 265 0 0.00 239 47 16.38 VRK1 0 genome.wustl.edu 37 14 97313614 97313614 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 97313614 97313614 C T SNP VRK1 ENST00000216639 human ensembl 74_37 +1 known missense c.307 p.R103C 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors VRK1 HGNC ENSG00000100749 tier1 - - 107 0 0.00 54 35 39.33 DH17 0 genome.wustl.edu 37 17 76424752 76424752 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 76424752 76424752 C T SNP DH17 ENST00000389840 human ensembl 74_37 -1 known missense c.12424 p.E4142K 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DH17 HGNC ENSG00000187775 tier1 - - 41 0 0.00 46 25 35.21 POTEA 0 genome.wustl.edu 37 8 43155758 43155758 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 43155758 43155758 G A SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors POTEA HGNC ENSG00000188877 tier1 - - 175 1 0.56 115 60 34.29 MACF1 0 genome.wustl.edu 37 1 39801547 39801547 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 39801547 39801547 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.9398 p.G3133E 0.000 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 89 0 0.00 63 36 36.36 ZNF90 0 genome.wustl.edu 37 19 20228657 20228657 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 20228657 20228657 G A SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known silent c.294 p.V98 0.000 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 ZNF90 HGNC ENSG00000213988 tier1 - - 116 0 0.00 87 22 20.18 NCOA5 0 genome.wustl.edu 37 20 44692194 44692194 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 44692194 44692194 C T SNP NCOA5 ENST00000290231 human ensembl 74_37 -1 known missense c.955 p.E319K 1.000 superfamily_Anticodon-bd superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 tier1 - - 44 0 0.00 46 22 32.35 NBEAL2 0 genome.wustl.edu 37 3 47047004 47047004 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 47047004 47047004 C T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.6586 p.H2196Y 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 tier1 - - 50 0 0.00 53 25 32.05 SLC45A2 0 genome.wustl.edu 37 5 33984600 33984600 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 33984600 33984600 C T SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known missense c.89 p.R30K 0.513 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 tier1 - - 85 0 0.00 67 38 36.19 CDH26 0 genome.wustl.edu 37 20 58562572 58562572 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 58562572 58562572 G A SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.902 p.R301Q 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 rs184110890 GMAF=0.0005 42 0 0.00 43 31 41.89 DCSTAMP 0 genome.wustl.edu 37 8 105361403 105361403 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 105361403 105361403 C T SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.623 p.S208F 0.690 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 - - 33 0 0.00 25 13 34.21 ALDH1L2 0 genome.wustl.edu 37 12 105425713 105425713 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 105425713 105425713 C T SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known splice_site c.2245-1 e20-1 1.000 - - - no_errors ALDH1L2 HGNC ENSG00000136010 tier1 - - 43 0 0.00 50 15 23.08 ZNF831 0 genome.wustl.edu 37 20 57829553 57829553 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 57829553 57829553 G T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.4789 p.G1597W 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 36 0 0.00 52 6 10.34 PDYN 0 genome.wustl.edu 37 20 1961226 1961226 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 1961226 1961226 C T SNP PDYN ENST00000217305 human ensembl 74_37 -1 known missense c.508 p.E170K 0.932 prints_Opioid_neupept pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 tier1 - - 39 0 0.00 69 13 15.85 AP2M1 0 genome.wustl.edu 37 3 183897987 183897987 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 183897987 183897987 C T SNP AP2M1 ENST00000292807 human ensembl 74_37 +1 known missense c.371 p.S124F 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 tier1 - - 56 0 0.00 47 20 29.85 ST18 0 genome.wustl.edu 37 8 53084844 53084844 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 53084844 53084844 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.577 p.E193K 0.980 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 59 0 0.00 49 10 16.67 ACSL6 0 genome.wustl.edu 37 5 131308476 131308476 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 131308476 131308476 G A SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known missense c.1279 p.R427W 0.954 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 tier1 - - 50 0 0.00 50 21 29.58 PCDH10 0 genome.wustl.edu 37 4 134071955 134071955 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 134071955 134071955 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.660 p.G220 0.894 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 22 0 0.00 24 4 14.29 SLITRK5 0 genome.wustl.edu 37 13 88328767 88328767 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 88328767 88328767 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1124 p.P375L 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 26 0 0.00 12 4 25.00 DL1 0 genome.wustl.edu 37 14 74128706 74128706 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 74128706 74128706 A T SNP DL1 ENST00000553645 human ensembl 74_37 +1 known missense c.169 p.T57S 1.000 NULL NULL - no_errors DL1 HGNC ENSG00000119661 tier1 - - 44 0 0.00 20 5 20.00 TMEM55A 0 genome.wustl.edu 37 8 92032477 92032477 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 92032477 92032477 G A SNP TMEM55A ENST00000285419 human ensembl 74_37 -1 known silent c.270 p.P90 0.978 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55A HGNC ENSG00000155099 tier1 - - 94 0 0.00 80 45 35.71 TTN-AS1 0 genome.wustl.edu 37 2 179403616 179403616 + R SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179403616 179403616 A C SNP TTN-AS1 ENST00000415561 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 16 0 0.00 21 8 27.59 ERAP1 0 genome.wustl.edu 37 5 96127834 96127834 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 96127834 96127834 T A SNP ERAP1 ENST00000296754 human ensembl 74_37 -1 known missense c.1250 p.H417L 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 tier1 - - 77 0 0.00 58 22 27.16 SHROOM2 0 genome.wustl.edu 37 X 9863008 9863008 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 9863008 9863008 C T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known nonsense c.1060 p.Q354* 0.002 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 32 0 0.00 21 18 46.15 PDE6A 0 genome.wustl.edu 37 5 149247673 149247673 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 149247673 149247673 C T SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known nonsense c.2184 p.W728* 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 tier1 - - 40 0 0.00 33 16 32.65 PHB 0 genome.wustl.edu 37 17 47484200 47484200 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 47484200 47484200 C T SNP PHB ENST00000300408 human ensembl 74_37 -1 known missense c.527 p.G176E 1.000 pfam_Band_7,smart_Band_7,prints_Prohibitin pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB HGNC ENSG00000167085 tier1 - - 58 0 0.00 40 21 34.43 TCF20 0 genome.wustl.edu 37 22 42607518 42607518 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 42607518 42607518 G A SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.3794 p.P1265L 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 - - 35 0 0.00 25 21 45.65 A2M 0 genome.wustl.edu 37 12 9252103 9252103 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 9252103 9252103 G A SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.1575 p.S525 0.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 tier1 - - 86 0 0.00 59 15 20.27 CALCB 0 genome.wustl.edu 37 11 15098911 15098911 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 15098911 15098911 G A SNP CALCB ENST00000324229 human ensembl 74_37 +1 known missense c.304 p.G102S 1.000 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCB HGNC ENSG00000175868 tier1 - - 46 0 0.00 54 13 19.40 PLEKHG4 0 genome.wustl.edu 37 16 67318357 67318357 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 67318357 67318357 G A SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known silent c.1689 p.R563 0.990 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 tier1 - - 29 0 0.00 10 14 58.33 TNK2 0 genome.wustl.edu 37 3 195611735 195611735 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 195611735 195611735 C T SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.593 p.G198D 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 tier1 - - 61 0 0.00 59 27 31.40 FCRL3 0 genome.wustl.edu 37 1 157648536 157648536 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 157648536 157648536 C T SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known silent c.2187 p.E729 0.989 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 75 0 0.00 81 9 10.00 OGT 0 genome.wustl.edu 37 X 70775130 70775130 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 70775130 70775130 C T SNP OGT ENST00000373719 human ensembl 74_37 +1 known silent c.819 p.G273 0.999 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 tier1 - - 26 0 0.00 10 36 78.26 RAD51B 0 genome.wustl.edu 37 14 69077894 69077894 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 69077894 69077894 C T SNP RAD51B ENST00000487861 human ensembl 74_37 +1 putative missense c.1208 p.S403F 0.000 NULL pfam_D_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_D_helicase_DnaB-like_C,pfam_D_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_D_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pfscan_D_recomb_RecA/RadB_ATP-bd - no_errors RAD51B HGNC ENSG00000182185 tier1 - - 117 0 0.00 29 57 65.52 TMPRSS15 0 genome.wustl.edu 37 21 19687538 19687538 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 19687538 19687538 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.1957 p.G653R 0.997 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 36 0 0.00 30 5 14.29 CMPK2 0 genome.wustl.edu 37 2 6991588 6991588 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 6991588 6991588 G A SNP CMPK2 ENST00000404168 human ensembl 74_37 -1 putative missense c.1219 p.R407C 1.000 pirsf_UMP-CMP_kinase_mit superfamily_P-loop_NTPase,pirsf_UMP-CMP_kinase_mit - no_errors CMPK2 HGNC ENSG00000134326 tier1 - - 44 0 0.00 39 12 23.53 TMC2 0 genome.wustl.edu 37 20 2539171 2539171 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 2539171 2539171 G A SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.152 p.G51E 0.026 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 tier1 - - 52 0 0.00 52 19 26.76 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42139646 42139646 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 42139646 42139646 C T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.2752 p.P918S 0.898 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 tier1 - - 23 0 0.00 15 10 40.00 CHL1 0 genome.wustl.edu 37 3 432467 432467 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 432467 432467 G A SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.2554 p.D852N 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 55 0 0.00 62 19 23.46 CACNB2 0 genome.wustl.edu 37 10 18827133 18827133 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 18827133 18827133 G A SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.1327 p.E443K 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 tier1 - - 74 0 0.00 64 21 24.71 SPAM1 0 genome.wustl.edu 37 7 123594244 123594244 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 123594244 123594244 G A SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.620 p.G207E 1.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 tier1 - - 73 0 0.00 53 45 45.92 TNPO1 0 genome.wustl.edu 37 5 72185695 72185695 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 72185695 72185695 T A SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.1612 p.F538I 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 tier1 - - 56 0 0.00 48 23 32.39 ZNF322 0 genome.wustl.edu 37 6 26638375 26638375 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 26638375 26638375 A T SNP ZNF322 ENST00000415922 human ensembl 74_37 -1 known missense c.407 p.F136Y 0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF322 HGNC ENSG00000181315 tier1 - - 37 0 0.00 36 10 21.74 YEATS2-AS1 0 genome.wustl.edu 37 3 183526833 183526833 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 183526833 183526833 C T SNP YEATS2-AS1 ENST00000425008 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors YEATS2-AS1 HGNC ENSG00000233885 tier1 - - 71 0 0.00 46 28 36.84 CNTN4 0 genome.wustl.edu 37 3 3097884 3097884 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 3097884 3097884 A T SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.3061 p.T1021S 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 tier1 - - 79 0 0.00 58 29 33.33 ENSG00000262732 0 genome.wustl.edu 37 16 14024750 14024750 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 14024750 14024750 G A SNP ENSG00000262732 ENST00000575137 human ensembl 74_37 -1 known rna NULL NULL 0.087 - - - no_errors CTD-2135D7.2 Clone_based_vega_gene ENSG00000262732 tier1 - - 33 0 0.00 32 18 36.00 B4GALT5 0 genome.wustl.edu 37 20 48260071 48260071 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 48260071 48260071 G A SNP B4GALT5 ENST00000371711 human ensembl 74_37 -1 known missense c.481 p.R161W 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT5 HGNC ENSG00000158470 tier1 - - 50 0 0.00 42 30 41.67 OR56B1 0 genome.wustl.edu 37 11 5758028 5758028 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5758028 5758028 C T SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known silent c.282 p.F94 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 tier1 - - 45 0 0.00 33 9 21.43 PCLO 0 genome.wustl.edu 37 7 82538309 82538309 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 82538309 82538309 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13321 p.E4441K 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 54 0 0.00 51 35 40.70 TTN 0 genome.wustl.edu 37 2 179638991 179638991 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179638991 179638991 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.7000 p.G2334R 1.000 pfam_Ig_I-set,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 - - 25 0 0.00 28 22 44.00 COASY 0 genome.wustl.edu 37 17 40717723 40717723 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 40717723 40717723 C T SNP COASY ENST00000590958 human ensembl 74_37 +1 known missense c.1619 p.A540V 0.997 pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 tier1 - - 16 0 0.00 22 11 33.33 CNGA1 0 genome.wustl.edu 37 4 47938975 47938975 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 47938975 47938975 G A SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known silent c.1743 p.I581 0.993 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 tier1 - - 29 0 0.00 22 14 38.89 RNF41 0 genome.wustl.edu 37 12 56600345 56600345 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 56600345 56600345 G A SNP RNF41 ENST00000345093 human ensembl 74_37 -1 known silent c.840 p.I280 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 tier1 - - 47 0 0.00 23 10 29.41 ARFGEF2 0 genome.wustl.edu 37 20 47621718 47621718 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 47621718 47621718 G T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.3544 p.D1182Y 1.000 pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 tier1 - - 81 0 0.00 97 39 28.68 DPCR1 0 genome.wustl.edu 37 6 30918953 30918953 + Silent SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 30918953 30918953 A T SNP DPCR1 ENST00000462446 human ensembl 74_37 +1 novel silent c.2712 p.G904 0.002 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 tier1 - - 76 0 0.00 43 34 43.59 GOLGA8H 0 genome.wustl.edu 37 15 30906712 30906712 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 30906712 30906712 A G SNP GOLGA8H ENST00000566740 human ensembl 74_37 +1 novel missense c.1847 p.N616S 0.263 NULL NULL - no_errors GOLGA8H HGNC ENSG00000261794 tier1 - - 167 0 0.00 77 93 54.71 MAN2C1 0 genome.wustl.edu 37 15 75658863 75658863 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 75658863 75658863 C T SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.422 p.S141N 1.000 NULL pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 tier1 - - 40 0 0.00 19 7 26.92 KRT10 0 genome.wustl.edu 37 17 38975339 38975339 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 38975339 38975339 G A SNP KRT10 ENST00000269576 human ensembl 74_37 -1 known missense c.1448 p.S483F 0.081 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 tier1 - - 43 0 0.00 32 10 23.81 TPTE 0 genome.wustl.edu 37 21 10944776 10944776 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 10944776 10944776 T C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.458 p.Y153C 0.797 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 166 0 0.00 160 27 14.44 TSSC1 0 genome.wustl.edu 37 2 3193006 3193006 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 3193006 3193006 C T SNP TSSC1 ENST00000478754 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TSSC1 HGNC ENSG00000032389 tier1 - - 51 0 0.00 40 17 29.82 LRBA 0 genome.wustl.edu 37 4 151773285 151773285 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 151773285 151773285 C T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.3577 p.E1193K 0.977 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 tier1 - - 39 0 0.00 32 11 25.58 ANKRD62P1-PARP4P3 0 genome.wustl.edu 37 22 17140390 17140390 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 17140390 17140390 G A SNP ANKRD62P1-PARP4P3 ENST00000456726 human ensembl 74_37 -1 known rna NULL NULL 0.130 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 tier1 - - 35 0 0.00 12 11 47.83 GREB1 0 genome.wustl.edu 37 2 11721014 11721014 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 11721014 11721014 C T SNP GREB1 ENST00000389825 human ensembl 74_37 +1 putative silent c.627 p.A209 0.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 39 0 0.00 41 8 16.33 CHRDL2 0 genome.wustl.edu 37 11 74442014 74442014 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 74442014 74442014 C T SNP CHRDL2 ENST00000534159 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CHRDL2 HGNC ENSG00000054938 tier1 - - 31 0 0.00 25 20 44.44 PCDHGA10 0 genome.wustl.edu 37 5 140794690 140794690 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140794690 140794690 G A SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.1948 p.V650I 0.999 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 PCDHGA10 HGNC ENSG00000253846 tier1 - - 62 0 0.00 69 27 28.12 MAPK7 0 genome.wustl.edu 37 17 19286475 19286475 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 19286475 19286475 C T SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known silent c.2382 p.S794 0.977 NULL 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 MAPK7 HGNC ENSG00000166484 tier1 - - 35 0 0.00 42 32 43.24 ZBTB1 0 genome.wustl.edu 37 14 64989325 64989325 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 64989325 64989325 C T SNP ZBTB1 ENST00000394712 human ensembl 74_37 +1 known missense c.1103 p.P368L 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 tier1 - - 60 0 0.00 21 33 61.11 ASTN2 0 genome.wustl.edu 37 9 119770453 119770453 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 119770453 119770453 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.1509 p.I503 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 88 0 0.00 102 41 28.67 IL2RB 0 genome.wustl.edu 37 22 37524587 37524587 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 37524587 37524587 C T SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known missense c.1205 p.G402E 0.006 NULL superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 tier1 - - 35 0 0.00 11 12 52.17 RYR1 0 genome.wustl.edu 37 19 39008190 39008190 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 39008190 39008190 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.9877 p.P3293S 0.986 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 37 0 0.00 26 27 50.94 IQGAP1 0 genome.wustl.edu 37 15 91027561 91027561 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 91027561 91027561 G A SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.3898 p.G1300S 1.000 superfamily_Rho_GTPase_activation_prot,smart_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 tier1 - - 83 0 0.00 28 33 54.10 ANK3 0 genome.wustl.edu 37 10 61834561 61834561 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 61834561 61834561 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.6078 p.K2026 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 31 0 0.00 31 6 16.22 SLC25A41 0 genome.wustl.edu 37 19 6433609 6433609 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 6433609 6433609 G A SNP SLC25A41 ENST00000321510 human ensembl 74_37 -1 known silent c.96 p.P32 0.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 tier1 - - 43 0 0.00 35 38 52.05 VEPH1 0 genome.wustl.edu 37 3 157031465 157031465 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 157031465 157031465 C T SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.1955 p.G652E 0.002 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 tier1 - - 47 0 0.00 53 31 36.90 ENSG00000249502 0 genome.wustl.edu 37 4 17616151 17616151 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 17616151 17616151 C T SNP ENSG00000249502 ENST00000511010 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC006160.5 Clone_based_vega_gene ENSG00000249502 tier1 - - 32 0 0.00 29 11 27.50 OR10J3 0 genome.wustl.edu 37 1 159283599 159283599 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 159283599 159283599 G A SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.851 p.P284L 0.993 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 tier1 - - 28 0 0.00 35 34 49.28 AKR1C4 0 genome.wustl.edu 37 10 5242241 5242241 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 5242241 5242241 T C SNP AKR1C4 ENST00000263126 human ensembl 74_37 +1 known missense c.182 p.V61A 0.534 pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ENSG00000198610 tier1 - - 110 0 0.00 91 45 33.09 CLMN 0 genome.wustl.edu 37 14 95679645 95679645 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 95679645 95679645 G A SNP CLMN ENST00000298912 human ensembl 74_37 -1 known silent c.519 p.P173 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 tier1 - - 73 0 0.00 31 34 52.31 PABPC1L 0 genome.wustl.edu 37 20 43561059 43561059 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 43561059 43561059 C T SNP PABPC1L ENST00000217073 human ensembl 74_37 +1 known missense c.1316 p.P439L 0.761 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 tier1 - - 51 0 0.00 79 11 12.22 CFTR 0 genome.wustl.edu 37 7 117235015 117235015 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 117235015 117235015 C T SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.2522 p.P841L 0.036 superfamily_ABC1_TM_dom,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 69 0 0.00 57 32 35.96 RGS7 0 genome.wustl.edu 37 1 240976931 240976931 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 240976931 240976931 C T SNP RGS7 ENST00000407727 human ensembl 74_37 -1 known missense c.943 p.E315K 1.000 smart_G-protein_gamma-like_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS7 HGNC ENSG00000182901 tier1 - - 83 0 0.00 60 48 44.44 GALNT13 0 genome.wustl.edu 37 2 155098681 155098681 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 155098681 155098681 C T SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known silent c.450 p.V150 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 tier1 - - 33 0 0.00 24 6 20.00 CGB5 0 genome.wustl.edu 37 19 49548426 49548426 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 49548426 49548426 G A SNP CGB5 ENST00000301408 human ensembl 74_37 +1 known missense c.373 p.D125N 0.738 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB5 HGNC ENSG00000189052 tier1 - - 26 0 0.00 27 7 20.59 NXF1 0 genome.wustl.edu 37 11 62568890 62568890 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 62568890 62568890 C T SNP NXF1 ENST00000294172 human ensembl 74_37 -1 known splice_site c.710-1 e8-1 1.000 - - - no_errors NXF1 HGNC ENSG00000162231 tier1 - - 40 0 0.00 20 19 48.72 ATXN2L 0 genome.wustl.edu 37 16 28844425 28844425 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 28844425 28844425 C T SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.1705 p.P569S 0.904 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 tier1 - - 91 0 0.00 62 31 33.33 BPIFB1 0 genome.wustl.edu 37 20 31877728 31877728 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 31877728 31877728 G A SNP BPIFB1 ENST00000253354 human ensembl 74_37 +1 known missense c.295 p.V99M 0.001 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form - no_errors BPIFB1 HGNC ENSG00000125999 tier1 - - 38 0 0.00 46 33 41.77 LTBP1 0 genome.wustl.edu 37 2 33359996 33359996 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 33359996 33359996 C T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.1170 p.A390 0.995 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 33 0 0.00 25 11 30.56 PSTPIP1 0 genome.wustl.edu 37 15 77317931 77317931 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 77317931 77317931 G A SNP PSTPIP1 ENST00000559785 human ensembl 74_37 +1 known missense c.535 p.E179K 1.000 superfamily_Prismane-like pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP1 HGNC ENSG00000140368 tier1 - - 40 0 0.00 27 12 30.77 TDRD15 0 genome.wustl.edu 37 2 21360749 21360749 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 21360749 21360749 C T SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.410 p.S137F 0.984 NULL pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 105 0 0.00 125 12 8.76 SNHG14 0 genome.wustl.edu 37 15 25453150 25453150 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 25453150 25453150 C T SNP SNHG14 ENST00000424333 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 46 0 0.00 15 15 50.00 OR51B5 0 genome.wustl.edu 37 11 5363996 5363996 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 5363996 5363996 C T SNP OR51B5 ENST00000300773 human ensembl 74_37 -1 known silent c.759 p.V253 0.011 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B5 HGNC ENSG00000242180 tier1 - - 39 0 0.00 42 20 32.26 RAB3GAP1 0 genome.wustl.edu 37 2 135881809 135881809 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 135881809 135881809 C T SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known missense c.823 p.P275S 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 tier1 - - 155 0 0.00 88 60 40.54 ENSG00000268864 0 genome.wustl.edu 37 19 54103593 54103593 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 54103593 54103593 G A SNP ENSG00000268864 ENST00000600193 human ensembl 74_37 -1 putative missense c.409 p.P137S 0.000 NULL NULL - no_errors CTB-167G5.5 Clone_based_vega_gene ENSG00000268864 tier1 - - 79 0 0.00 73 17 18.89 C9orf50 0 genome.wustl.edu 37 9 132375485 132375485 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 132375485 132375485 C T SNP C9orf50 ENST00000372478 human ensembl 74_37 -1 known missense c.1089 p.M363I 0.004 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 tier1 - - 89 0 0.00 73 42 36.52 KIAA0907 0 genome.wustl.edu 37 1 155891652 155891652 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 155891652 155891652 C T SNP KIAA0907 ENST00000368321 human ensembl 74_37 -1 known missense c.1012 p.G338S 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 tier1 - - 100 0 0.00 76 70 47.62 ARHGAP30 0 genome.wustl.edu 37 1 161018938 161018938 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 161018938 161018938 G A SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.1873 p.P625S 0.002 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 tier1 - - 32 0 0.00 20 16 44.44 NPHS1 0 genome.wustl.edu 37 19 36317546 36317546 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 36317546 36317546 C T SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.3596 p.G1199E 0.000 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 - - 72 0 0.00 83 14 14.43 PAM 0 genome.wustl.edu 37 5 102201874 102201874 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 102201874 102201874 C T SNP PAM ENST00000509523 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors PAM HGNC ENSG00000145730 tier1 - - 31 0 0.00 43 10 18.87 NFASC 0 genome.wustl.edu 37 1 204953289 204953289 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 204953289 204953289 G A SNP NFASC ENST00000471392 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 41 0 0.00 28 42 60.00 HSPH1 0 genome.wustl.edu 37 13 31725865 31725865 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 31725865 31725865 C T SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known missense c.550 p.G184R 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 tier1 - - 55 0 0.00 36 10 21.74 SH2D7 0 genome.wustl.edu 37 15 78390433 78390433 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 78390433 78390433 C T SNP SH2D7 ENST00000409568 human ensembl 74_37 +1 putative silent c.21 p.P7 0.998 NULL NULL - no_errors SH2D7 HGNC ENSG00000183476 tier1 - - 8 0 0.00 4 8 66.67 EPHA4 0 genome.wustl.edu 37 2 222321413 222321413 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 222321413 222321413 G A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.1523 p.S508F 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 tier1 - - 83 0 0.00 74 13 14.77 SPR 0 genome.wustl.edu 37 2 73118669 73118669 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 73118669 73118669 C T SNP SPR ENST00000498749 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors SPR HGNC ENSG00000116096 tier1 - - 100 0 0.00 105 62 37.13 TCAM1P 0 genome.wustl.edu 37 17 61937379 61937379 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 61937379 61937379 C T SNP TCAM1P ENST00000478379 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TCAM1P HGNC ENSG00000240280 tier1 - - 41 0 0.00 55 16 22.54 PTH1R 0 genome.wustl.edu 37 3 46944150 46944150 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 46944150 46944150 C T SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.1346 p.S449F 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 tier1 - - 24 0 0.00 19 21 52.50 INPP1 0 genome.wustl.edu 37 2 191227390 191227390 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 191227390 191227390 C T SNP INPP1 ENST00000322522 human ensembl 74_37 +1 known missense c.242 p.S81F 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC ENSG00000151689 tier1 - - 46 0 0.00 43 13 23.21 FCAR 0 genome.wustl.edu 37 19 55385770 55385770 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 55385770 55385770 C T SNP FCAR ENST00000355524 human ensembl 74_37 +1 known silent c.25 p.L9 0.000 NULL smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 tier1 - - 99 0 0.00 67 11 14.10 DPH2 0 genome.wustl.edu 37 1 44437598 44437598 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 44437598 44437598 C T SNP DPH2 ENST00000255108 human ensembl 74_37 +1 known missense c.1024 p.P342S 1.000 pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC ENSG00000132768 tier1 - - 19 0 0.00 30 14 30.43 IKBKAP 0 genome.wustl.edu 37 9 111655349 111655349 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 111655349 111655349 G A SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.2875 p.P959S 0.987 pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 tier1 - - 44 0 0.00 39 20 33.90 DBN1 0 genome.wustl.edu 37 5 176894047 176894047 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 176894047 176894047 C T SNP DBN1 ENST00000292385 human ensembl 74_37 -1 known missense c.578 p.R193Q 1.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 tier1 - - 14 0 0.00 13 11 45.83 DPF3 0 genome.wustl.edu 37 14 73137309 73137309 + R SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 73137309 73137309 A T SNP DPF3 ENST00000557704 human ensembl 74_37 -1 known rna NULL NULL 0.038 - - - no_errors DPF3 HGNC ENSG00000205683 tier1 - - 104 0 0.00 43 57 57.00 HSPG2 0 genome.wustl.edu 37 1 22176547 22176547 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 22176547 22176547 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.7433 p.P2478L 0.891 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 32 0 0.00 32 14 30.43 KCNT2 0 genome.wustl.edu 37 1 196398872 196398872 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 196398872 196398872 T C SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known silent c.654 p.Q218 0.977 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 127 0 0.00 97 41 29.71 ZNF746 0 genome.wustl.edu 37 7 149171627 149171627 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 149171627 149171627 G A SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known missense c.1786 p.P596S 0.896 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 tier1 - - 12 0 0.00 13 6 31.58 MAEL 0 genome.wustl.edu 37 1 166991181 166991181 + R SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 166991181 166991181 A C SNP MAEL ENST00000491055 human ensembl 74_37 +1 known rna NULL NULL 0.351 - - - no_errors MAEL HGNC ENSG00000143194 tier1 - - 15 0 0.00 3 7 70.00 FAP 0 genome.wustl.edu 37 2 163099915 163099915 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 163099915 163099915 G A SNP FAP ENST00000493182 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors FAP HGNC ENSG00000078098 tier1 - - 30 0 0.00 25 4 13.79 CFTR 0 genome.wustl.edu 37 7 117227801 117227801 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 117227801 117227801 C T SNP CFTR ENST00000003084 human ensembl 74_37 +1 known silent c.1593 p.S531 0.996 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 53 0 0.00 38 26 40.62 HELZ2 0 genome.wustl.edu 37 20 62193253 62193253 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 62193253 62193253 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.6614 p.P2205L 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 35 0 0.00 48 18 27.27 RHBDD2 0 genome.wustl.edu 37 7 75512954 75512954 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 75512954 75512954 C T SNP RHBDD2 ENST00000467406 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RHBDD2 HGNC ENSG00000005486 tier1 - - 50 0 0.00 83 13 13.54 NR1I2 0 genome.wustl.edu 37 3 119530564 119530564 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 119530564 119530564 G A SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known silent c.627 p.K209 0.997 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 tier1 - - 33 0 0.00 29 26 47.27 TBX5 0 genome.wustl.edu 37 12 114793599 114793599 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 114793599 114793599 G A SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.1295 p.S432L 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 90 0 0.00 75 25 24.75 ANKLE2 0 genome.wustl.edu 37 12 133331453 133331453 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 133331453 133331453 C T SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.448 p.G150S 0.000 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 tier1 - - 69 0 0.00 49 35 41.67 PDZRN3 0 genome.wustl.edu 37 3 73433539 73433539 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 73433539 73433539 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.2178 p.F726 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 20 0 0.00 20 7 25.93 OTOG 0 genome.wustl.edu 37 11 17663754 17663754 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 17663754 17663754 C T SNP OTOG ENST00000399391 human ensembl 74_37 +1 known silent c.8412 p.P2804 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 22 0 0.00 17 8 30.77 CELA2B 0 genome.wustl.edu 37 1 15812515 15812515 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 15812515 15812515 G A SNP CELA2B ENST00000375910 human ensembl 74_37 +1 known missense c.613 p.G205S 0.997 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 CELA2B HGNC ENSG00000215704 tier1 - - 67 0 0.00 79 43 35.25 SACS 0 genome.wustl.edu 37 13 23909098 23909098 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 23909098 23909098 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.8917 p.D2973N 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 38 0 0.00 25 7 21.88 SCGB1A1 0 genome.wustl.edu 37 11 62189806 62189806 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 62189806 62189806 G A SNP SCGB1A1 ENST00000278282 human ensembl 74_37 +1 known missense c.169 p.E57K 0.000 pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin pfam_Secretoglobin,superfamily_Secretoglobin,smart_Secretoglobin,prints_Uteroglobin - no_errors SCGB1A1 HGNC ENSG00000149021 tier1 - - 55 0 0.00 44 31 41.33 ARHGEF3 0 genome.wustl.edu 37 3 56807787 56807787 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 56807787 56807787 T G SNP ARHGEF3 ENST00000338458 human ensembl 74_37 -1 known missense c.250 p.I84L 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 tier1 - - 111 0 0.00 97 53 35.33 A60 0 genome.wustl.edu 37 16 3526270 3526270 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 3526270 3526270 C T SNP A60 ENST00000407558 human ensembl 74_37 +1 known silent c.43 p.L15 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GT_dom pfam_GT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GT_dom - no_errors A60 HGNC ENSG00000122390 tier1 - - 29 0 0.00 31 11 26.19 MAP2 0 genome.wustl.edu 37 2 210574734 210574734 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 210574734 210574734 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.4829 p.S1610F 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 74 0 0.00 60 20 25.00 RYR2 0 genome.wustl.edu 37 1 237829883 237829883 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 237829883 237829883 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.8502 p.D2834 0.987 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 70 0 0.00 59 29 32.95 ITIH1 0 genome.wustl.edu 37 3 52814391 52814391 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52814391 52814391 G A SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known missense c.680 p.G227E 1.000 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 tier1 - - 66 0 0.00 72 16 18.18 MUSK 0 genome.wustl.edu 37 9 113530214 113530214 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 113530214 113530214 G A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known silent c.1035 p.E345 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 tier1 - - 83 0 0.00 63 42 40.00 MECOM 0 genome.wustl.edu 37 3 168849229 168849229 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 168849229 168849229 G A SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.601 p.P201S 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 tier1 - - 78 0 0.00 67 45 39.82 AMBN 0 genome.wustl.edu 37 4 71472162 71472162 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 71472162 71472162 C T SNP AMBN ENST00000322937 human ensembl 74_37 +1 known silent c.1059 p.L353 0.959 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 tier1 - - 30 0 0.00 22 13 37.14 KCTD10 0 genome.wustl.edu 37 12 109894018 109894018 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 109894018 109894018 C T SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known missense c.628 p.E210K 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 tier1 - - 93 0 0.00 87 24 21.62 CHR9 0 genome.wustl.edu 37 4 40337493 40337493 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 40337493 40337493 G A SNP CHR9 ENST00000310169 human ensembl 74_37 +1 known nonsense c.9 p.W3* 0.999 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHR9 HGNC ENSG00000174343 tier1 - - 37 0 0.00 33 23 41.07 C4orf22 0 genome.wustl.edu 37 4 81791227 81791227 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 81791227 81791227 G A SNP C4orf22 ENST00000508675 human ensembl 74_37 +1 known silent c.465 p.T155 0.000 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 tier1 - - 58 0 0.00 61 12 16.44 PFKL 0 genome.wustl.edu 37 21 45742861 45742861 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 45742861 45742861 C T SNP PFKL ENST00000403390 human ensembl 74_37 +1 known nonsense c.1567 p.Q523* 0.249 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 tier1 - - 40 0 0.00 65 19 22.62 TTPA 0 genome.wustl.edu 37 8 63985641 63985641 + Nonsense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 63985641 63985641 T A SNP TTPA ENST00000260116 human ensembl 74_37 -1 known nonsense c.211 p.K71* 0.842 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 tier1 - - 38 0 0.00 21 11 34.38 MYADML 0 genome.wustl.edu 37 2 33951639 33951640 + R INS - - GCTAGG TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 33951639 33951640 - GCTAGG INS MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.441:0.327 - - - no_errors MYADML HGNC ENSG00000239649 tier1 ZNF618 0 genome.wustl.edu 37 9 116795004 116795004 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 116795004 116795004 C T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known silent c.1164 p.S388 1.000 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 tier1 - - 41 0 0.00 36 17 32.08 APOF 0 genome.wustl.edu 37 12 56755634 56755634 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 56755634 56755634 G A SNP APOF ENST00000398189 human ensembl 74_37 -1 known missense c.356 p.A119V 0.589 NULL NULL - no_errors APOF HGNC ENSG00000175336 tier1 - - 35 0 0.00 24 18 42.86 ARHGDIA 0 genome.wustl.edu 37 17 79826449 79826449 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 79826449 79826449 G A SNP ARHGDIA ENST00000584461 human ensembl 74_37 -1 putative missense c.514 p.P172S 0.000 NULL pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIA HGNC ENSG00000141522 tier1 - - 17 0 0.00 14 18 56.25 CMYA5 0 genome.wustl.edu 37 5 79030247 79030247 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 79030247 79030247 A T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.5659 p.I1887F 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 25 0 0.00 23 17 42.50 MAST3 0 genome.wustl.edu 37 19 18257756 18257756 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 18257756 18257756 C T SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known silent c.3141 p.A1047 0.516 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 tier1 - - 29 0 0.00 22 14 38.89 XIRP2 0 genome.wustl.edu 37 2 168105914 168105914 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 168105914 168105914 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.8012 p.S2671L 0.001 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 53 0 0.00 39 29 42.03 FABP12 0 genome.wustl.edu 37 8 82439336 82439336 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 82439336 82439336 C T SNP FABP12 ENST00000360464 human ensembl 74_37 -1 known silent c.267 p.K89 0.002 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP12 HGNC ENSG00000197416 tier1 - - 49 0 0.00 48 16 25.00 C6orf132 0 genome.wustl.edu 37 6 42074695 42074695 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 42074695 42074695 C T SNP C6orf132 ENST00000341865 human ensembl 74_37 -1 putative missense c.955 p.E319K 0.817 NULL NULL - no_errors C6orf132 HGNC ENSG00000188112 tier1 - - 42 0 0.00 39 23 37.10 GSTM3 0 genome.wustl.edu 37 1 110280032 110280032 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 110280032 110280032 G A SNP GSTM3 ENST00000476321 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GSTM3 HGNC ENSG00000134202 tier1 - - 33 0 0.00 24 7 22.58 ZBTB8A 0 genome.wustl.edu 37 1 33066007 33066007 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 33066007 33066007 C T SNP ZBTB8A ENST00000373510 human ensembl 74_37 +1 known missense c.1313 p.P438L 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB8A HGNC ENSG00000160062 tier1 - - 62 0 0.00 37 25 40.32 ENSG00000250046 0 genome.wustl.edu 37 4 113614777 113614777 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 113614777 113614777 C T SNP ENSG00000250046 ENST00000505632 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-148B6.2 Clone_based_vega_gene ENSG00000250046 tier1 - - 18 0 0.00 11 10 47.62 MYH2 0 genome.wustl.edu 37 17 10432355 10432355 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 10432355 10432355 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.3396 p.R1132 0.926 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 64 0 0.00 58 10 14.71 TRPM4 0 genome.wustl.edu 37 19 49674907 49674907 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 49674907 49674907 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known silent c.931 p.L311 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 23 0 0.00 27 18 40.00 FERMT1 0 genome.wustl.edu 37 20 6096461 6096461 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 6096461 6096461 G A SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known silent c.382 p.L128 0.896 pfam_FERM_N,smart_Band_41_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 tier1 - - 25 0 0.00 40 10 20.00 API5 0 genome.wustl.edu 37 11 43342406 43342406 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 43342406 43342406 T C SNP API5 ENST00000531273 human ensembl 74_37 +1 known silent c.267 p.F89 1.000 pfam_API5,superfamily_ARM-type_fold pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ENSG00000166181 tier1 - - 119 0 0.00 121 49 28.82 COL4A3 0 genome.wustl.edu 37 2 228118052 228118052 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 228118052 228118052 G A SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.686 p.R229Q 0.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 rs188942711 GMAF=0.0005 72 0 0.00 51 25 32.89 PCLO 0 genome.wustl.edu 37 7 82585020 82585020 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 82585020 82585020 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.5249 p.G1750E 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 71 0 0.00 82 15 15.46 SRMS 0 genome.wustl.edu 37 20 62173583 62173583 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 62173583 62173583 C T SNP SRMS ENST00000217188 human ensembl 74_37 -1 known silent c.879 p.S293 0.007 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 tier1 - - 68 0 0.00 117 26 18.18 SLC9A7P1 0 genome.wustl.edu 37 12 98849450 98849450 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 98849450 98849450 C T SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 tier1 - - 51 0 0.00 63 20 24.10 SFMBT2 0 genome.wustl.edu 37 10 7269837 7269837 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 7269837 7269837 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.1183 p.P395S 0.995 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 70 0 0.00 66 25 26.88 PLEKHM2 0 genome.wustl.edu 37 1 16057089 16057089 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 16057089 16057089 C T SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known silent c.2271 p.S757 0.971 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 tier1 - - 31 0 0.00 24 9 27.27 OBSCN 0 genome.wustl.edu 37 1 228560206 228560206 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 228560206 228560206 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.21727 p.E7243K 0.018 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 52 0 0.00 59 22 27.16 TMEM203 0 genome.wustl.edu 37 9 140099807 140099807 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 140099807 140099807 G A SNP TMEM203 ENST00000343666 human ensembl 74_37 -1 known silent c.60 p.F20 0.997 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM203 HGNC ENSG00000187713 tier1 - - 98 0 0.00 149 24 13.79 COL20A1 0 genome.wustl.edu 37 20 61937270 61937270 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 61937270 61937270 C A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.375 p.S125R 0.002 NULL 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 COL20A1 HGNC ENSG00000101203 tier1 - - 45 0 0.00 49 25 33.78 SSH1 0 genome.wustl.edu 37 12 109186349 109186349 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 109186349 109186349 C T SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.1606 p.E536K 0.999 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 tier1 - - 74 0 0.00 53 7 11.67 SLC39A2 0 genome.wustl.edu 37 14 21469209 21469209 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 21469209 21469209 C T SNP SLC39A2 ENST00000298681 human ensembl 74_37 +1 known missense c.401 p.S134L 0.016 pfam_ZIP pfam_ZIP - no_errors SLC39A2 HGNC ENSG00000165794 tier1 - - 90 0 0.00 89 28 23.93 CDC42BPA 0 genome.wustl.edu 37 1 227333377 227333377 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 227333377 227333377 C T SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.956 p.R319Q 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 63 0 0.00 71 15 17.44 PHLDB3 0 genome.wustl.edu 37 19 43982237 43982237 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 43982237 43982237 C T SNP PHLDB3 ENST00000292140 human ensembl 74_37 -1 known missense c.1750 p.E584K 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC ENSG00000176531 tier1 - - 62 0 0.00 50 26 34.21 IL18RAP 0 genome.wustl.edu 37 2 103040419 103040419 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 103040419 103040419 C T SNP IL18RAP ENST00000264260 human ensembl 74_37 +1 known silent c.219 p.F73 0.006 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL18RAP HGNC ENSG00000115607 tier1 - - 50 0 0.00 64 9 12.33 ABHD17A 0 genome.wustl.edu 37 19 1877606 1877606 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1877606 1877606 T A SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known missense c.761 p.Y254F 0.968 pfam_Dienelactn_hydro pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 tier1 - - 45 0 0.00 22 19 46.34 PLCH2 0 genome.wustl.edu 37 1 2428090 2428090 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 2428090 2428090 C T SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.1880 p.S627F 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 tier1 - - 114 0 0.00 93 54 36.73 KCNK4 0 genome.wustl.edu 37 11 64064350 64064350 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 64064350 64064350 G A SNP KCNK4 ENST00000394525 human ensembl 74_37 +1 known missense c.190 p.E64K 0.994 prints_2pore_dom_K_chnl_TREK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK4 HGNC ENSG00000182450 tier1 - - 38 0 0.00 57 30 34.48 CHEK2 0 genome.wustl.edu 37 22 29115390 29115390 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 29115390 29115390 G A SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.805 p.L269F 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 tier1 - - 64 0 0.00 47 38 44.71 TPK1 0 genome.wustl.edu 37 7 144463043 144463043 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 144463043 144463043 C T SNP TPK1 ENST00000360057 human ensembl 74_37 -1 known silent c.45 p.G15 0.529 superfamily_TPK_catalytic,pirsf_Thiamin_pyrophosphokinase_euk pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase - no_errors TPK1 HGNC ENSG00000196511 tier1 - - 25 0 0.00 21 7 25.00 CNN2 0 genome.wustl.edu 37 19 1032435 1032435 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1032435 1032435 G T SNP CNN2 ENST00000263097 human ensembl 74_37 +1 known missense c.230 p.R77L 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_Calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN2 HGNC ENSG00000064666 tier1 - - 38 0 0.00 24 7 22.58 SUSD2 0 genome.wustl.edu 37 22 24581170 24581170 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 24581170 24581170 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known silent c.891 p.E297 0.755 pfam_AMOP,smart_AMOP,pfscan_AMOP 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 - - 72 0 0.00 65 27 29.35 OR5H1 0 genome.wustl.edu 37 3 97851550 97851550 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 97851550 97851550 G A SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known silent c.9 p.E3 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 tier1 - - 93 0 0.00 75 50 40.00 KCNJ13 0 genome.wustl.edu 37 2 233633287 233633287 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 233633287 233633287 C T SNP KCNJ13 ENST00000233826 human ensembl 74_37 -1 known missense c.697 p.E233K 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_KCNJ13,prints_K_chnl_inward-rec_Kir - no_errors KCNJ13 HGNC ENSG00000115474 tier1 - - 72 0 0.00 59 37 38.54 RSAD1 0 genome.wustl.edu 37 17 48560724 48560724 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 48560724 48560724 C T SNP RSAD1 ENST00000258955 human ensembl 74_37 +1 known nonsense c.928 p.Q310* 1.000 pfam_HemN_C_dom,tigrfam_Coprogen_oxidase_HemN-rel pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 tier1 - - 49 0 0.00 55 40 42.11 ADAMTS12 0 genome.wustl.edu 37 5 33684046 33684046 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 33684046 33684046 G A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.749 p.T250I 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 16 0 0.00 17 6 26.09 APPBP2 0 genome.wustl.edu 37 17 58603353 58603353 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 58603353 58603353 C T SNP APPBP2 ENST00000590244 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors APPBP2 HGNC ENSG00000062725 tier1 - - 34 0 0.00 45 27 36.99 SLC25A36 0 genome.wustl.edu 37 3 140660753 140660753 + R SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 140660753 140660753 G C SNP SLC25A36 ENST00000393015 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A36 HGNC ENSG00000114120 tier1 - - 13 0 0.00 23 11 32.35 ARHGEF11 0 genome.wustl.edu 37 1 156915734 156915734 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 156915734 156915734 G A SNP ARHGEF11 ENST00000461678 human ensembl 74_37 -1 known rna NULL NULL 0.308 - - - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 - - 15 0 0.00 15 10 40.00 IFITM5 0 genome.wustl.edu 37 11 299458 299458 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 299458 299458 C T SNP IFITM5 ENST00000382614 human ensembl 74_37 -1 known silent c.33 p.R11 0.583 NULL pfam_CD225/Dispanin_fam - no_errors IFITM5 HGNC ENSG00000206013 tier1 - - 28 0 0.00 41 22 34.92 MUC16 0 genome.wustl.edu 37 19 9076121 9076121 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 9076121 9076121 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.11325 p.Q3775 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 46 0 0.00 47 9 16.07 PKHD1L1 0 genome.wustl.edu 37 8 110471921 110471921 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 110471921 110471921 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.7102 p.G2368R 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 99 0 0.00 55 27 32.93 GRAMD2 0 genome.wustl.edu 37 15 72455621 72455621 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 72455621 72455621 C A SNP GRAMD2 ENST00000309731 human ensembl 74_37 -1 known missense c.942 p.K314N 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 tier1 - - 54 0 0.00 35 7 16.67 HCRTR2 0 genome.wustl.edu 37 6 55147026 55147026 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 55147026 55147026 A T SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known missense c.1109 p.K370I 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 tier1 - - 57 0 0.00 43 11 20.37 MICAL1 0 genome.wustl.edu 37 6 109765428 109765428 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 109765428 109765428 C T SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.3227 p.S1076N 0.980 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 tier1 - - 39 0 0.00 44 18 29.03 ARHGEF1 0 genome.wustl.edu 37 19 42396238 42396238 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 42396238 42396238 G A SNP ARHGEF1 ENST00000596957 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGEF1 HGNC ENSG00000076928 tier1 - - 21 0 0.00 12 8 40.00 BRWD1 0 genome.wustl.edu 37 21 40566665 40566665 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 40566665 40566665 G A SNP BRWD1 ENST00000380800 human ensembl 74_37 -1 putative missense c.6584 p.S2195F 0.022 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 tier1 - - 47 0 0.00 38 7 15.56 KCNK5 0 genome.wustl.edu 37 6 39159496 39159496 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 39159496 39159496 G A SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.670 p.R224C 1.000 pfam_2pore_dom_K_chnl_dom pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 tier1 - - 37 0 0.00 69 12 14.81 HS3ST4 0 genome.wustl.edu 37 16 26146954 26146954 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 26146954 26146954 G A SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known silent c.756 p.L252 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 tier1 - - 60 0 0.00 80 17 17.53 HRASLS5 0 genome.wustl.edu 37 11 63233660 63233660 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 63233660 63233660 G A SNP HRASLS5 ENST00000301790 human ensembl 74_37 -1 known silent c.669 p.I223 0.011 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors HRASLS5 HGNC ENSG00000168004 tier1 - - 47 0 0.00 45 19 29.69 LOC101927969 0 genome.wustl.edu 37 5 168135212 168135212 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 168135212 168135212 C T SNP LOC101927969 ENST00000522615 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-558O2.1 Clone_based_vega_gene ENSG00000254042 tier1 - - 19 0 0.00 7 12 63.16 PCDHGA8 0 genome.wustl.edu 37 5 140773133 140773133 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140773133 140773133 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known silent c.753 p.V251 0.024 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 tier1 - - 31 0 0.00 37 7 15.91 ZMAT1 0 genome.wustl.edu 37 X 101139137 101139137 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 101139137 101139137 G A SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.1262 p.S421F 0.085 NULL superfamily_Asn/Gln_tR_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 tier1 - - 39 0 0.00 14 19 57.58 ITIH4 0 genome.wustl.edu 37 3 52852107 52852107 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52852107 52852107 G A SNP ITIH4 ENST00000266041 human ensembl 74_37 -1 known missense c.2257 p.R753C 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 tier1 - - 32 0 0.00 27 11 28.95 ITIH1 0 genome.wustl.edu 37 3 52823792 52823792 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52823792 52823792 C T SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known missense c.2243 p.P748L 1.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 tier1 - - 50 0 0.00 56 12 17.39 PCLO 0 genome.wustl.edu 37 7 82545983 82545983 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 82545983 82545983 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.11319 p.V3773 0.616 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 41 0 0.00 26 10 27.78 PRR23A 0 genome.wustl.edu 37 3 138724344 138724344 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 138724344 138724344 G A SNP PRR23A ENST00000383163 human ensembl 74_37 -1 known missense c.767 p.P256L 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23A HGNC ENSG00000206260 tier1 - - 73 0 0.00 67 18 21.18 RYR2 0 genome.wustl.edu 37 1 237811832 237811832 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 237811832 237811832 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.7425 p.G2475 0.045 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 47 0 0.00 74 16 17.78 DDAH2 0 genome.wustl.edu 37 6 31696749 31696749 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 31696749 31696749 G T SNP DDAH2 ENST00000375787 human ensembl 74_37 -1 known missense c.190 p.P64T 1.000 NULL pfam_Amidino_trans - no_errors DDAH2 HGNC ENSG00000213722 tier1 - - 31 0 0.00 40 4 9.09 AOC1 0 genome.wustl.edu 37 7 150554585 150554585 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 150554585 150554585 G A SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.1027 p.G343R 0.698 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 tier1 - - 38 0 0.00 49 12 19.67 ACTN4 0 genome.wustl.edu 37 19 39218571 39218571 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 39218571 39218571 G A SNP ACTN4 ENST00000497637 human ensembl 74_37 +1 putative rna NULL NULL 0.910 - - - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 75 0 0.00 65 14 17.72 MEF2B 0 genome.wustl.edu 37 19 19257880 19257880 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 19257880 19257880 G A SNP MEF2B ENST00000162023 human ensembl 74_37 -1 known missense c.506 p.P169L 1.000 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2B HGNC ENSG00000213999 tier1 - - 33 0 0.00 28 7 20.00 ZNF17 0 genome.wustl.edu 37 19 57932771 57932771 + Silent SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 57932771 57932771 T G SNP ZNF17 ENST00000601808 human ensembl 74_37 +1 known silent c.1911 p.P637 0.000 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 ZNF17 HGNC ENSG00000186272 tier1 - - 62 0 0.00 50 24 32.43 SRBD1 0 genome.wustl.edu 37 2 45780861 45780861 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 45780861 45780861 G C SNP SRBD1 ENST00000263736 human ensembl 74_37 -1 known missense c.1418 p.P473R 1.000 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_R-bd_dom,superfamily_-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_R-binding_domain_S1,pfscan_Rbsml_prot_S1_R-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 tier1 - - 56 0 0.00 73 16 17.98 C19orf44 0 genome.wustl.edu 37 19 16612275 16612275 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 16612275 16612275 C T SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known silent c.672 p.S224 0.771 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 tier1 - - 76 0 0.00 71 23 24.47 DPYSL4 0 genome.wustl.edu 37 10 134012440 134012440 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 134012440 134012440 G A SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.776 p.G259E 0.963 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 tier1 - - 23 0 0.00 30 15 33.33 CROT 0 genome.wustl.edu 37 7 86998740 86998740 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 86998740 86998740 G C SNP CROT ENST00000331536 human ensembl 74_37 +1 known missense c.596 p.R199P 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 tier1 - - 110 0 0.00 104 46 30.46 VWA5B2 0 genome.wustl.edu 37 3 183954435 183954435 + Silent SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 183954435 183954435 C G SNP VWA5B2 ENST00000426955 human ensembl 74_37 +1 known silent c.1431 p.S477 1.000 NULL NULL - no_errors VWA5B2 HGNC ENSG00000145198 tier1 - - 45 0 0.00 37 21 36.21 NUP205 0 genome.wustl.edu 37 7 135309966 135309966 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 135309966 135309966 T C SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.4534 p.W1512R 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 tier1 - - 124 0 0.00 101 49 32.67 CPNE4 0 genome.wustl.edu 37 3 131261456 131261456 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 131261456 131261456 C T SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.1538 p.G513E 1.000 smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 tier1 - - 51 0 0.00 51 33 39.29 LAD1 0 genome.wustl.edu 37 1 201356225 201356225 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 201356225 201356225 G A SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known silent c.306 p.I102 0.976 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 tier1 - - 26 0 0.00 27 11 28.95 EPPK1 0 genome.wustl.edu 37 8 144946875 144946875 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 144946875 144946875 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.547 p.E183K 0.027 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 14 0 0.00 16 6 27.27 LCE1D 0 genome.wustl.edu 37 1 152770602 152770602 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 152770602 152770602 G A SNP LCE1D ENST00000326233 human ensembl 74_37 +1 known missense c.332 p.G111E 0.991 NULL NULL - no_errors LCE1D HGNC ENSG00000172155 tier1 - - 87 0 0.00 98 13 11.71 LOC100129534 0 genome.wustl.edu 37 1 2282809 2282809 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 2282809 2282809 C T SNP LOC100129534 ENST00000602865 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-740C4.6 Clone_based_vega_gene ENSG00000269896 tier1 - - 47 0 0.00 38 8 17.39 PDGFRA 0 genome.wustl.edu 37 4 55138666 55138666 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 55138666 55138666 T G SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known missense c.1343 p.M448R 0.999 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRA HGNC ENSG00000134853 tier1 - - 35 0 0.00 40 14 25.93 GPAA1 0 genome.wustl.edu 37 8 145140974 145140974 + Silent SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 145140974 145140974 C A SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known silent c.1812 p.S604 0.786 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 tier1 - - 25 0 0.00 14 15 51.72 BCAR3 0 genome.wustl.edu 37 1 94033401 94033401 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 94033401 94033401 C T SNP BCAR3 ENST00000260502 human ensembl 74_37 -1 known missense c.1982 p.R661K 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 tier1 - - 48 0 0.00 53 8 13.11 UNKL 0 genome.wustl.edu 37 16 1435326 1435326 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 1435326 1435326 C T SNP UNKL ENST00000397462 human ensembl 74_37 -1 known missense c.1744 p.A582T 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 tier1 - - 54 0 0.00 67 33 33.00 SLC16A4 0 genome.wustl.edu 37 1 110918101 110918101 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 110918101 110918101 G A SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known missense c.1315 p.L439F 0.868 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 tier1 - - 91 0 0.00 95 25 20.83 NR1H4 0 genome.wustl.edu 37 12 100934550 100934550 + Silent SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 100934550 100934550 T G SNP NR1H4 ENST00000551379 human ensembl 74_37 +1 known silent c.1062 p.L354 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 tier1 - - 77 0 0.00 66 14 17.50 CA 0 genome.wustl.edu 37 12 57113564 57113564 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 57113564 57113564 G A SNP CA ENST00000454682 human ensembl 74_37 -1 known missense c.1750 p.L584F 0.185 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors CA HGNC ENSG00000196531 tier1 - - 83 0 0.00 38 33 46.48 DPYD 0 genome.wustl.edu 37 1 97547995 97547995 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 97547995 97547995 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.2798 p.G933E 0.999 NULL pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_tR_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 - - 45 0 0.00 37 19 33.93 UCP3 0 genome.wustl.edu 37 11 73717404 73717404 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 73717404 73717404 C T SNP UCP3 ENST00000314032 human ensembl 74_37 -1 known silent c.147 p.A49 0.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier - no_errors UCP3 HGNC ENSG00000175564 tier1 rs201580635 - 24 0 0.00 33 12 26.67 NLRP11 0 genome.wustl.edu 37 19 56320365 56320365 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 56320365 56320365 T A SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.1611 p.E537D 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 tier1 - - 13 0 0.00 12 8 40.00 PYGB 0 genome.wustl.edu 37 20 25252028 25252028 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 25252028 25252028 T C SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.434 p.L145P 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 tier1 - - 62 0 0.00 68 23 25.27 ZNF471 0 genome.wustl.edu 37 19 57035875 57035875 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 57035875 57035875 A T SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.439 p.I147F 0.000 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 ZNF471 HGNC ENSG00000196263 tier1 - - 59 0 0.00 47 13 21.67 NRCAM 0 genome.wustl.edu 37 7 107824989 107824989 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 107824989 107824989 C T SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.2105 p.G702E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 tier1 - - 18 0 0.00 20 11 35.48 CALML3-AS1 0 genome.wustl.edu 37 10 5557791 5557791 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 5557791 5557791 C T SNP CALML3-AS1 ENST00000543008 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CALML3-AS1 HGNC ENSG00000205488 tier1 - - 37 0 0.00 52 10 16.13 PHB 0 genome.wustl.edu 37 17 47484201 47484201 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 47484201 47484201 C T SNP PHB ENST00000300408 human ensembl 74_37 -1 known missense c.526 p.G176R 1.000 pfam_Band_7,smart_Band_7,prints_Prohibitin pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB HGNC ENSG00000167085 tier1 - - 57 0 0.00 40 19 32.20 CYP27A1 0 genome.wustl.edu 37 2 219677814 219677814 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 219677814 219677814 G A SNP CYP27A1 ENST00000258415 human ensembl 74_37 +1 known missense c.1012 p.D338N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 tier1 - - 18 0 0.00 27 14 34.15 HNF1B 0 genome.wustl.edu 37 17 36093708 36093708 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 36093708 36093708 C T SNP HNF1B ENST00000225893 human ensembl 74_37 -1 known silent c.651 p.G217 1.000 NULL pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 tier1 - - 28 0 0.00 35 14 28.57 CD300LG 0 genome.wustl.edu 37 17 41926258 41926258 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 41926258 41926258 C T SNP CD300LG ENST00000317310 human ensembl 74_37 +1 known missense c.376 p.P126S 0.013 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LG HGNC ENSG00000161649 tier1 - - 18 0 0.00 34 6 15.00 ZDHHC8P1 0 genome.wustl.edu 37 22 23734880 23734880 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 23734880 23734880 C T SNP ZDHHC8P1 ENST00000456279 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 tier1 - - 85 0 0.00 58 27 31.40 MSANTD1 0 genome.wustl.edu 37 4 3255061 3255061 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 3255061 3255061 G A SNP MSANTD1 ENST00000438480 human ensembl 74_37 +1 known missense c.448 p.G150R 1.000 NULL NULL - no_errors MSANTD1 HGNC ENSG00000188981 tier1 - - 57 0 0.00 76 33 30.28 MUC12 0 genome.wustl.edu 37 7 100635518 100635518 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 100635518 100635518 C T SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known silent c.1674 p.P558 0.001 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 247 1 0.40 255 41 13.85 MYO16 0 genome.wustl.edu 37 13 109792911 109792911 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 109792911 109792911 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.4285 p.E1429K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 18 0 0.00 13 5 27.78 ARMC4 0 genome.wustl.edu 37 10 28270465 28270465 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 28270465 28270465 G A SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.866 p.S289L 0.389 superfamily_GSKIP_dom pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 119 0 0.00 97 23 19.17 SLC22A24 0 genome.wustl.edu 37 11 62863494 62863494 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 62863494 62863494 G A SNP SLC22A24 ENST00000417740 human ensembl 74_37 -1 putative nonsense c.1039 p.R347* 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 tier1 - - 53 0 0.00 50 12 19.35 ST6GALC4 0 genome.wustl.edu 37 9 130670790 130670790 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 130670790 130670790 G A SNP ST6GALC4 ENST00000335791 human ensembl 74_37 -1 known silent c.790 p.L264 0.955 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALC4 HGNC ENSG00000136840 tier1 - - 82 0 0.00 67 42 38.53 NEURL4 0 genome.wustl.edu 37 17 7229606 7229606 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 7229606 7229606 C T SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.1261 p.E421K 1.000 smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 tier1 - - 46 0 0.00 44 24 35.29 GREB1 0 genome.wustl.edu 37 2 11721013 11721013 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 11721013 11721013 C T SNP GREB1 ENST00000389825 human ensembl 74_37 +1 putative missense c.626 p.A209V 0.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 40 0 0.00 42 8 16.00 GK5 0 genome.wustl.edu 37 3 141923410 141923410 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 141923410 141923410 G A SNP GK5 ENST00000466685 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GK5 HGNC ENSG00000175066 tier1 - - 97 0 0.00 66 32 32.65 ENSG00000259426 0 genome.wustl.edu 37 15 69689909 69689909 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 69689909 69689909 G A SNP ENSG00000259426 ENST00000558617 human ensembl 74_37 -1 known rna NULL NULL 0.500 - - - no_errors RP11-253M7.1 Clone_based_vega_gene ENSG00000259426 tier1 - - 61 0 0.00 18 11 37.93 CLSTN1 0 genome.wustl.edu 37 1 9795085 9795085 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 9795085 9795085 G A SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known silent c.2031 p.F677 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 tier1 - - 48 0 0.00 46 23 33.33 CHRND 0 genome.wustl.edu 37 2 233399932 233399932 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 233399932 233399932 C T SNP CHRND ENST00000258385 human ensembl 74_37 +1 known silent c.1464 p.I488 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 tier1 - - 63 0 0.00 75 8 9.64 KRTAP21-2 0 genome.wustl.edu 37 21 32119340 32119340 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 32119340 32119340 A C SNP KRTAP21-2 ENST00000333892 human ensembl 74_37 -1 known missense c.181 p.C61G 0.004 NULL pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP21-2 HGNC ENSG00000187026 tier1 - - 56 0 0.00 69 18 20.69 CD109 0 genome.wustl.edu 37 6 74498282 74498282 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 74498282 74498282 C T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.2648 p.S883L 0.995 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 - - 37 0 0.00 45 12 21.05 CCDC30 0 genome.wustl.edu 37 1 43011180 43011180 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 43011180 43011180 G A SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known missense c.355 p.D119N 1.000 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 tier1 - - 119 0 0.00 90 54 37.50 RGS22 0 genome.wustl.edu 37 8 101065132 101065132 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 101065132 101065132 G A SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known silent c.1587 p.L529 0.564 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 tier1 - - 75 0 0.00 97 10 9.35 GTSE1 0 genome.wustl.edu 37 22 46704373 46704373 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 46704373 46704373 G A SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known missense c.295 p.V99M 0.997 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 tier1 rs200240747 - 96 0 0.00 66 43 39.45 HSPA12B 0 genome.wustl.edu 37 20 3721480 3721480 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 3721480 3721480 C T SNP HSPA12B ENST00000254963 human ensembl 74_37 +1 known missense c.62 p.S21F 0.102 NULL NULL - no_errors HSPA12B HGNC ENSG00000132622 tier1 - - 42 0 0.00 36 15 29.41 BMPR2 0 genome.wustl.edu 37 2 203384915 203384915 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 203384915 203384915 C T SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known missense c.958 p.P320S 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 tier1 - - 54 0 0.00 51 12 19.05 FOXD4L1 0 genome.wustl.edu 37 2 114257069 114257069 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 114257069 114257069 C T SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known missense c.236 p.P79L 0.001 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 tier1 - - 100 0 0.00 109 31 22.14 CYP4Z1 0 genome.wustl.edu 37 1 47571853 47571853 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 47571853 47571853 G A SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known missense c.1121 p.R374H 0.207 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 tier1 - - 111 0 0.00 101 50 32.89 TEX13A 0 genome.wustl.edu 37 X 104463704 104463704 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 104463704 104463704 G A SNP TEX13A ENST00000413579 human ensembl 74_37 -1 known missense c.1172 p.S391L 0.947 pfam_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 tier1 - - 30 0 0.00 17 38 69.09 PCDHA3 0 genome.wustl.edu 37 5 140181134 140181134 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140181134 140181134 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.352 p.H118Y 0.999 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 110 0 0.00 104 34 24.64 MACF1 0 genome.wustl.edu 37 1 39800360 39800360 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 39800360 39800360 A G SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative silent c.8211 p.K2737 0.992 pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 54 0 0.00 48 12 20.00 RSAD1 0 genome.wustl.edu 37 17 48560723 48560723 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 48560723 48560723 C T SNP RSAD1 ENST00000515221 human ensembl 74_37 +1 known missense c.524 p.P175L 0.992 NULL NULL - no_errors RSAD1 HGNC ENSG00000136444 tier1 - - 47 0 0.00 54 39 41.94 PCDHB11 0 genome.wustl.edu 37 5 140580724 140580724 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140580724 140580724 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.1377 p.F459 0.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 tier1 - - 174 0 0.00 190 37 16.30 HOXA3 0 genome.wustl.edu 37 7 27149779 27149779 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 27149779 27149779 C T SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known missense c.481 p.E161K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 tier1 - - 44 0 0.00 36 12 25.00 ZNF571 0 genome.wustl.edu 37 19 38046816 38046816 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38046816 38046816 C T SNP ZNF571 ENST00000590751 human ensembl 74_37 -1 putative silent c.384 p.G128 0.570 superfamily_FMuLV_rcpt-bd pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_FMuLV_rcpt-bd,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 tier1 - - 41 0 0.00 52 16 23.53 SPIRE1 0 genome.wustl.edu 37 18 12463463 12463463 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 12463463 12463463 T A SNP SPIRE1 ENST00000409402 human ensembl 74_37 -1 known missense c.1525 p.T509S 0.999 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE1 HGNC ENSG00000134278 tier1 - - 52 0 0.00 42 30 41.67 POLG2 0 genome.wustl.edu 37 17 62486789 62486789 + R SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 62486789 62486789 C A SNP POLG2 ENST00000580893 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors POLG2 HGNC ENSG00000256525 tier1 - - 10 0 0.00 11 9 45.00 MCM3AP 0 genome.wustl.edu 37 21 47704036 47704036 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47704036 47704036 G A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.1165 p.R389W 0.949 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 tier1 - - 64 0 0.00 77 31 28.70 WDR87 0 genome.wustl.edu 37 19 38378207 38378207 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38378207 38378207 C T SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.6104 p.R2035K 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 37 0 0.00 34 4 10.53 FAM187A 0 genome.wustl.edu 37 17 42981923 42981923 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 42981923 42981923 C T SNP FAM187A ENST00000331733 human ensembl 74_37 +1 known silent c.726 p.P242 1.000 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors FAM187A HGNC ENSG00000214447 tier1 - - 26 0 0.00 51 12 19.05 GPR107 0 genome.wustl.edu 37 9 132841942 132841942 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 132841942 132841942 C T SNP GPR107 ENST00000372410 human ensembl 74_37 +1 known silent c.420 p.T140 0.958 NULL pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt - no_errors GPR107 HGNC ENSG00000148358 tier1 rs147298143 - 61 0 0.00 37 12 24.49 KMT2D 0 genome.wustl.edu 37 12 49426709 49426709 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 49426709 49426709 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.11779 p.Q3927* 0.007 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 22 0 0.00 16 12 42.86 SETD1A 0 genome.wustl.edu 37 16 30977487 30977487 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30977487 30977487 C T SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.2285 p.S762F 0.996 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 SETD1A HGNC ENSG00000099381 tier1 - - 18 0 0.00 23 13 36.11 ALDH4A1 0 genome.wustl.edu 37 1 19200961 19200961 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 19200961 19200961 G A SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known silent c.1575 p.A525 0.982 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 tier1 rs200337577 GMAF=0.0005 129 0 0.00 102 59 36.65 PAF1 0 genome.wustl.edu 37 19 39880307 39880307 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 39880307 39880307 G A SNP PAF1 ENST00000221265 human ensembl 74_37 -1 known missense c.265 p.P89S 1.000 pfam_R_pol_II-assoc_Paf1 pfam_R_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 tier1 - - 42 0 0.00 31 9 22.50 PRAM1 0 genome.wustl.edu 37 19 8564148 8564148 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 8564148 8564148 C T SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.544 p.E182K 0.001 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 tier1 - - 38 0 0.00 39 34 46.58 DIP2A 0 genome.wustl.edu 37 21 47918713 47918713 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47918713 47918713 G T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.622 p.A208S 0.155 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 tier1 - - 76 0 0.00 50 20 28.57 PCLO 0 genome.wustl.edu 37 7 82546087 82546087 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 82546087 82546087 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11215 p.T3739P 0.003 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 43 0 0.00 26 32 55.17 FCGRT 0 genome.wustl.edu 37 19 50028814 50028814 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 50028814 50028814 G A SNP FCGRT ENST00000221466 human ensembl 74_37 +1 known missense c.972 p.M324I 0.010 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors FCGRT HGNC ENSG00000104870 tier1 - - 64 0 0.00 53 22 29.33 ADAMTS3 0 genome.wustl.edu 37 4 73169770 73169770 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 73169770 73169770 T C SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.2288 p.Y763C 1.000 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 tier1 - - 45 0 0.00 36 23 38.98 ZNF790 0 genome.wustl.edu 37 19 37310645 37310645 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 37310645 37310645 T C SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.601 p.K201E 0.000 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 ZNF790 HGNC ENSG00000197863 tier1 - - 42 0 0.00 25 21 45.65 NBEA 0 genome.wustl.edu 37 13 35733976 35733976 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 35733976 35733976 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.3668 p.R1223I 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 61 0 0.00 46 5 9.80 GPX8 0 genome.wustl.edu 37 5 54456137 54456137 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 54456137 54456137 C T SNP GPX8 ENST00000503787 human ensembl 74_37 +1 known silent c.117 p.F39 0.996 pirsf_Glutathione_peroxidase pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 - no_errors GPX8 HGNC ENSG00000164294 tier1 - - 68 0 0.00 37 29 43.94 LINC00657 0 genome.wustl.edu 37 20 34638437 34638437 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 34638437 34638437 C T SNP LINC00657 ENST00000565493 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00657 HGNC ENSG00000260032 tier1 - - 36 0 0.00 20 16 44.44 RERE 0 genome.wustl.edu 37 1 8601375 8601375 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 8601375 8601375 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.728 p.G243E 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 tier1 - - 42 0 0.00 19 21 52.50 FBN2 0 genome.wustl.edu 37 5 127674749 127674749 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 127674749 127674749 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.3348 p.I1116 0.922 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 41 0 0.00 38 14 26.92 LRRC56 0 genome.wustl.edu 37 11 541617 541617 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 541617 541617 G A SNP LRRC56 ENST00000270115 human ensembl 74_37 +1 known silent c.258 p.G86 0.992 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 tier1 - - 26 0 0.00 25 20 44.44 ZNF570 0 genome.wustl.edu 37 19 37974812 37974812 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 37974812 37974812 A T SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.288 p.L96F 0.016 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 ZNF570 HGNC ENSG00000171827 tier1 - - 86 0 0.00 50 38 43.18 SORCS3 0 genome.wustl.edu 37 10 107016627 107016627 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 107016627 107016627 C T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known silent c.3388 p.L1130 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 76 0 0.00 43 24 35.82 ZNF541 0 genome.wustl.edu 37 19 48048923 48048923 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 48048923 48048923 G A SNP ZNF541 ENST00000314121 human ensembl 74_37 -1 known missense c.863 p.P288L 0.221 NULL pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ENSG00000118156 tier1 - - 30 0 0.00 28 9 24.32 KIAA1755 0 genome.wustl.edu 37 20 36846744 36846744 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 36846744 36846744 C T SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.2581 p.G861R 0.994 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 - - 55 0 0.00 49 20 28.99 CDH4 0 genome.wustl.edu 37 20 60348069 60348069 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 60348069 60348069 G A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.407 p.G136E 0.215 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 44 0 0.00 38 7 15.56 CCDC134 0 genome.wustl.edu 37 22 42205974 42205974 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 42205974 42205974 C T SNP CCDC134 ENST00000255784 human ensembl 74_37 +1 known silent c.195 p.I65 1.000 NULL NULL - no_errors CCDC134 HGNC ENSG00000100147 tier1 - - 45 0 0.00 34 18 34.62 KCNK5 0 genome.wustl.edu 37 6 39162039 39162039 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 39162039 39162039 G A SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known silent c.540 p.F180 0.996 pfam_2pore_dom_K_chnl_dom pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 tier1 - - 59 0 0.00 64 14 17.95 STIL 0 genome.wustl.edu 37 1 47746546 47746546 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 47746546 47746546 A G SNP STIL ENST00000371877 human ensembl 74_37 -1 known silent c.1584 p.N528 0.002 NULL NULL - no_errors STIL HGNC ENSG00000123473 tier1 - - 55 0 0.00 52 17 24.64 HECTD4 0 genome.wustl.edu 37 12 112630518 112630518 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 112630518 112630518 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.8622 p.G2874 0.999 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 42 0 0.00 26 11 29.73 LRRC8D 0 genome.wustl.edu 37 1 90400617 90400617 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 90400617 90400617 G C SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known missense c.1990 p.D664H 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 tier1 - - 79 0 0.00 35 32 47.76 HDGFL1 0 genome.wustl.edu 37 6 22570533 22570533 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 22570533 22570533 G A SNP HDGFL1 ENST00000230012 human ensembl 74_37 +1 known silent c.729 p.P243 0.000 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFL1 HGNC ENSG00000112273 tier1 - - 22 0 0.00 53 12 18.46 TMBIM4 0 genome.wustl.edu 37 12 66531763 66531763 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 66531763 66531763 G A SNP TMBIM4 ENST00000358230 human ensembl 74_37 -1 known silent c.694 p.L232 0.449 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 tier1 - - 66 0 0.00 43 20 31.75 POU6F2 0 genome.wustl.edu 37 7 39491226 39491226 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 39491226 39491226 C T SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.1328 p.P443L 0.999 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_D-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 tier1 rs202234462 GMAF=0.0005 53 0 0.00 73 16 17.98 DEFB119 0 genome.wustl.edu 37 20 29976941 29976941 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 29976941 29976941 G A SNP DEFB119 ENST00000376315 human ensembl 74_37 -1 known missense c.154 p.P52S 0.906 superfamily_Scorpion_toxin-like superfamily_Scorpion_toxin-like - no_errors DEFB119 HGNC ENSG00000180483 tier1 - - 103 0 0.00 100 56 35.90 PRG4 0 genome.wustl.edu 37 1 186276984 186276984 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 186276984 186276984 G A SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known silent c.2133 p.G711 0.001 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 - - 134 0 0.00 127 91 41.74 HCFC1 0 genome.wustl.edu 37 X 153219588 153219588 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 153219588 153219588 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.4262 p.P1421L 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 tier1 - - 27 0 0.00 25 10 28.57 ECE2 0 genome.wustl.edu 37 3 183994375 183994375 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 183994375 183994375 C T SNP ECE2 ENST00000357474 human ensembl 74_37 +1 novel missense c.146 p.P49L 0.071 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 28 0 0.00 37 23 38.33 RANBP3 0 genome.wustl.edu 37 19 5941824 5941824 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 5941824 5941824 G A SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known missense c.305 p.P102L 1.000 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 tier1 - - 32 0 0.00 38 10 20.83 CNTN4 0 genome.wustl.edu 37 3 3084769 3084769 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 3084769 3084769 C T SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2620 p.H874Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 tier1 - - 39 0 0.00 20 6 23.08 ZNF445 0 genome.wustl.edu 37 3 44496724 44496724 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 44496724 44496724 G A SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known silent c.318 p.I106 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 tier1 - - 70 0 0.00 84 16 16.00 ZNF668 0 genome.wustl.edu 37 16 31075147 31075147 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 31075147 31075147 G A SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known missense c.703 p.R235C 0.714 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 tier1 - - 29 0 0.00 29 29 50.00 BSN 0 genome.wustl.edu 37 3 49698615 49698615 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49698615 49698615 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.9337 p.R3113C 0.996 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 25 0 0.00 29 15 34.09 METTL21EP 0 genome.wustl.edu 37 13 103547978 103547978 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 103547978 103547978 C T SNP METTL21EP ENST00000605100 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors METTL21EP HGNC ENSG00000250878 tier1 - - 40 0 0.00 22 9 29.03 HDGF 0 genome.wustl.edu 37 1 156714910 156714910 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 156714910 156714910 G A SNP HDGF ENST00000368206 human ensembl 74_37 -1 known missense c.241 p.P81S 1.000 pfam_PWWP_dom pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 tier1 - - 62 0 0.00 48 21 30.43 CCDC38 0 genome.wustl.edu 37 12 96310927 96310927 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 96310927 96310927 G A SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known missense c.284 p.P95L 0.013 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 tier1 - - 121 0 0.00 73 51 41.13 ZCCHC2 0 genome.wustl.edu 37 18 60237413 60237413 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 60237413 60237413 C T SNP ZCCHC2 ENST00000269499 human ensembl 74_37 +1 known missense c.1924 p.P642S 1.000 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 tier1 - - 45 0 0.00 17 21 55.26 GTF3C5 0 genome.wustl.edu 37 9 135919222 135919222 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 135919222 135919222 C T SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.481 p.H161Y 1.000 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 tier1 - - 40 0 0.00 42 24 36.36 ANK1 0 genome.wustl.edu 37 8 41529933 41529933 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 41529933 41529933 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.5035 p.G1679R 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 38 0 0.00 46 15 24.59 TTN 0 genome.wustl.edu 37 2 179452029 179452029 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179452029 179452029 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.56205 p.V18735 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 - - 25 0 0.00 22 4 15.38 AKAP8L 0 genome.wustl.edu 37 19 15508397 15508397 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 15508397 15508397 G A SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known nonsense c.1339 p.R447* 0.989 pfam_AKAP95 pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 tier1 - - 86 0 0.00 68 51 42.86 COL22A1 0 genome.wustl.edu 37 8 139838954 139838954 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 139838954 139838954 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.916 p.R306W 0.994 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 52 0 0.00 66 9 12.00 LOC728586 0 genome.wustl.edu 37 5 127277084 127277084 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 127277084 127277084 C T SNP LOC728586 ENST00000513708 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors CTC-228N24.1 Clone_based_vega_gene ENSG00000230561 tier1 - - 56 0 0.00 65 48 42.48 PEG3 0 genome.wustl.edu 37 19 57326183 57326183 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 57326183 57326183 C T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.3627 p.R1209 0.002 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 13 0 0.00 14 5 26.32 ADCK5 0 genome.wustl.edu 37 8 145616618 145616618 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 145616618 145616618 C T SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known silent c.742 p.L248 1.000 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 tier1 - - 82 0 0.00 111 46 29.11 MAPK12 0 genome.wustl.edu 37 22 50691884 50691884 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 50691884 50691884 G A SNP MAPK12 ENST00000215659 human ensembl 74_37 -1 known silent c.1050 p.S350 1.000 superfamily_Kinase-like_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,prints_MAPK_p38 - no_errors MAPK12 HGNC ENSG00000188130 tier1 - - 93 0 0.00 85 43 33.59 TLR9 0 genome.wustl.edu 37 3 52256651 52256651 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52256651 52256651 T A SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.1753 p.M585L 0.994 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 tier1 - - 32 0 0.00 16 9 36.00 CPN2 0 genome.wustl.edu 37 3 194063260 194063260 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 194063260 194063260 C T SNP CPN2 ENST00000323830 human ensembl 74_37 -1 known missense c.172 p.E58K 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CPN2 HGNC ENSG00000178772 tier1 - - 35 0 0.00 33 21 38.89 SORCS2 0 genome.wustl.edu 37 4 7728597 7728597 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 7728597 7728597 G A SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known missense c.2836 p.V946M 0.950 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 tier1 - - 42 0 0.00 37 22 36.67 ENSG00000230578 0 genome.wustl.edu 37 X 154578932 154578932 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 154578932 154578932 G A SNP ENSG00000230578 ENST00000453508 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP13-228J13.5 Clone_based_vega_gene ENSG00000230578 tier1 - - 56 0 0.00 48 8 14.29 COL5A3 0 genome.wustl.edu 37 19 10103505 10103505 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 10103505 10103505 G A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.1846 p.P616S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 20 0 0.00 34 22 39.29 TBX22 0 genome.wustl.edu 37 X 79286459 79286459 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 79286459 79286459 C T SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.1412 p.S471F 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 tier1 - - 42 0 0.00 9 22 70.97 LINC00843 0 genome.wustl.edu 37 10 51732758 51732758 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 51732758 51732758 T C SNP LINC00843 ENST00000429104 human ensembl 74_37 +1 known rna NULL NULL 0.137 - - - no_errors LINC00843 HGNC ENSG00000178440 tier1 - - 32 0 0.00 17 13 43.33 NOTCH4 0 genome.wustl.edu 37 6 32181931 32181931 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 32181931 32181931 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.2123 p.P708L 0.993 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 16 0 0.00 23 7 23.33 GMDS 0 genome.wustl.edu 37 6 1960165 1960165 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 1960165 1960165 G A SNP GMDS ENST00000380815 human ensembl 74_37 -1 known silent c.579 p.F193 1.000 pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase - no_errors GMDS HGNC ENSG00000112699 tier1 - - 61 0 0.00 35 14 28.57 PODXL 0 genome.wustl.edu 37 7 131191021 131191021 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 131191021 131191021 C T SNP PODXL ENST00000541194 human ensembl 74_37 -1 known missense c.1315 p.E439K 0.030 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 tier1 - - 76 0 0.00 59 35 37.23 N4BP2L2 0 genome.wustl.edu 37 13 33018251 33018251 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 33018251 33018251 C A SNP N4BP2L2 ENST00000399396 human ensembl 74_37 -1 known missense c.423 p.L141F 0.499 NULL superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 tier1 - - 35 0 0.00 17 8 32.00 SKOR1 0 genome.wustl.edu 37 15 68124680 68124680 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 68124680 68124680 C T SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.2656 p.L886F 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_D-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 tier1 - - 63 0 0.00 22 24 52.17 ARHGEF16 0 genome.wustl.edu 37 1 3389732 3389732 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 3389732 3389732 C T SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known silent c.1113 p.F371 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 tier1 - - 19 0 0.00 15 15 50.00 OR2AP1 0 genome.wustl.edu 37 12 55968495 55968495 + Nonsense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 55968495 55968495 T A SNP OR2AP1 ENST00000321688 human ensembl 74_37 +1 known nonsense c.297 p.Y99* 0.007 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AP1 HGNC ENSG00000179615 tier1 - - 57 0 0.00 57 11 16.18 PER3 0 genome.wustl.edu 37 1 7889942 7889942 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 7889942 7889942 G A SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.2908 p.G970S 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 tier1 - - 81 0 0.00 51 33 39.29 RAB11FIP1 0 genome.wustl.edu 37 8 37727931 37727931 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 37727931 37727931 G A SNP RAB11FIP1 ENST00000524118 human ensembl 74_37 -1 known missense c.1294 p.P432S 0.021 NULL NULL - no_errors RAB11FIP1 HGNC ENSG00000156675 tier1 - - 48 0 0.00 42 16 27.59 RAP1GAP2 0 genome.wustl.edu 37 17 2921430 2921430 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 2921430 2921430 C T SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.1570 p.P524S 1.000 NULL pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 tier1 - - 65 0 0.00 89 43 32.58 ZFYVE9 0 genome.wustl.edu 37 1 52732455 52732455 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 52732455 52732455 C T SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.2407 p.P803S 1.000 pfam_SARA_Smad-bd,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 - - 100 0 0.00 70 35 33.33 NCOA1 0 genome.wustl.edu 37 2 24930035 24930035 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 24930035 24930035 T G SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.1696 p.S566A 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 tier1 - - 46 0 0.00 52 32 38.10 METTL21EP 0 genome.wustl.edu 37 13 103547977 103547977 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 103547977 103547977 C T SNP METTL21EP ENST00000605100 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors METTL21EP HGNC ENSG00000250878 tier1 - - 40 0 0.00 25 7 21.88 DST 0 genome.wustl.edu 37 6 56480985 56480985 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 56480985 56480985 A G SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.7280 p.L2427P 0.807 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 tier1 - - 47 0 0.00 61 18 22.78 SPDYC 0 genome.wustl.edu 37 11 64939415 64939415 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 64939415 64939415 G T SNP SPDYC ENST00000377185 human ensembl 74_37 +1 known missense c.201 p.E67D 1.000 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 tier1 - - 42 0 0.00 37 27 41.54 PDE4C 0 genome.wustl.edu 37 19 18333087 18333087 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 18333087 18333087 G A SNP PDE4C ENST00000355502 human ensembl 74_37 -1 known missense c.289 p.P97S 0.984 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 tier1 - - 15 0 0.00 14 12 46.15 ENSG00000268650 0 genome.wustl.edu 37 19 18331176 18331176 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 18331176 18331176 C T SNP ENSG00000268650 ENST00000594805 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors AC068499.10 Clone_based_vega_gene ENSG00000268650 tier1 - - 42 0 0.00 32 34 50.75 SCAND3 0 genome.wustl.edu 37 6 28543503 28543503 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 28543503 28543503 C T SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.979 p.E327K 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 - - 45 0 0.00 17 12 41.38 ALG13 0 genome.wustl.edu 37 X 111002986 111002986 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 111002986 111002986 C T SNP ALG13 ENST00000251943 human ensembl 74_37 +1 known missense c.2624 p.S875L 0.007 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 tier1 - - 25 0 0.00 13 17 56.67 LRRC30 0 genome.wustl.edu 37 18 7231470 7231470 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 7231470 7231470 G A SNP LRRC30 ENST00000383467 human ensembl 74_37 +1 known missense c.334 p.E112K 0.920 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC30 HGNC ENSG00000206422 tier1 - - 54 0 0.00 58 7 10.77 BDP1 0 genome.wustl.edu 37 5 70810863 70810863 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 70810863 70810863 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known silent c.4563 p.R1521 0.027 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 - - 57 0 0.00 46 18 28.12 DF5 0 genome.wustl.edu 37 7 24756994 24756994 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 24756994 24756994 C T SNP DF5 ENST00000342947 human ensembl 74_37 -1 known splice_site c.577-1 e4-1 1.000 - - - no_errors DF5 HGNC ENSG00000105928 tier1 - - 25 0 0.00 22 14 38.89 TRPC7 0 genome.wustl.edu 37 5 135587462 135587462 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 135587462 135587462 G A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.1454 p.S485F 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 tier1 - - 60 0 0.00 70 26 27.08 C14orf182 0 genome.wustl.edu 37 14 50470034 50470034 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 50470034 50470034 G A SNP C14orf182 ENST00000529902 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C14orf182 HGNC ENSG00000214900 tier1 - - 31 0 0.00 22 8 26.67 RELN 0 genome.wustl.edu 37 7 103236958 103236958 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 103236958 103236958 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.3484 p.G1162S 1.000 superfamily_Growth_fac_rcpt_N_dom,superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 50 0 0.00 50 44 46.81 PDE4DIP 0 genome.wustl.edu 37 1 144931147 144931147 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 144931147 144931147 G A SNP PDE4DIP ENST00000313431 human ensembl 74_37 -1 known nonsense c.562 p.R188* 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 70 0 0.00 78 19 19.59 CREBBP 0 genome.wustl.edu 37 16 3832702 3832702 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 3832702 3832702 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.1556 p.R519K 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 64 0 0.00 59 33 35.87 GNPTAB 0 genome.wustl.edu 37 12 102160056 102160056 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 102160056 102160056 A G SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known silent c.1425 p.S475 0.445 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 tier1 - - 29 0 0.00 12 13 52.00 NEB 0 genome.wustl.edu 37 2 152381747 152381747 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 152381747 152381747 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.22202 p.S7401F 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 65 0 0.00 35 8 18.60 LPHN2 0 genome.wustl.edu 37 1 82450155 82450155 + R SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 82450155 82450155 A G SNP LPHN2 ENST00000498776 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 10 0 0.00 14 8 36.36 FAM102A 0 genome.wustl.edu 37 9 130703842 130703842 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 130703842 130703842 T C SNP FAM102A ENST00000300434 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors FAM102A HGNC ENSG00000167106 tier1 - - 20 0 0.00 14 9 39.13 PLEKHM1 0 genome.wustl.edu 37 17 43528023 43528023 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 43528023 43528023 C T SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known silent c.2604 p.P868 0.090 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 tier1 - - 91 0 0.00 63 43 40.57 SAA3P 0 genome.wustl.edu 37 11 18134110 18134110 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 18134110 18134110 C T SNP SAA3P ENST00000534768 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors SAA3P HGNC ENSG00000166787 tier1 - - 36 0 0.00 38 20 34.48 PRRT1 0 genome.wustl.edu 37 6 32116627 32116627 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 32116627 32116627 G A SNP PRRT1 ENST00000467780 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors PRRT1 HGNC ENSG00000204314 tier1 - - 136 0 0.00 123 75 37.88 FMO6P 0 genome.wustl.edu 37 1 171121086 171121086 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 171121086 171121086 C T SNP FMO6P ENST00000236166 human ensembl 74_37 +1 novel missense c.865 p.P289S 0.975 pfam_Flavin_mOase-like pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1 - no_errors FMO6P HGNC ENSG00000117507 tier1 - - 92 0 0.00 61 52 45.61 BRSK2 0 genome.wustl.edu 37 11 1432834 1432834 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 1432834 1432834 C T SNP BRSK2 ENST00000382179 human ensembl 74_37 +1 known missense c.200 p.T67I 0.420 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 BRSK2 HGNC ENSG00000174672 tier1 - - 17 0 0.00 7 9 56.25 SCEL 0 genome.wustl.edu 37 13 78171701 78171701 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 78171701 78171701 C T SNP SCEL ENST00000349847 human ensembl 74_37 +1 known silent c.774 p.I258 0.999 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 tier1 - - 91 0 0.00 51 18 26.09 ARHGEF1 0 genome.wustl.edu 37 19 42396237 42396237 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 42396237 42396237 G A SNP ARHGEF1 ENST00000596957 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGEF1 HGNC ENSG00000076928 tier1 - - 21 0 0.00 14 8 36.36 CDH23 0 genome.wustl.edu 37 10 73337680 73337680 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 73337680 73337680 G A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.898 p.V300M 0.999 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 51 0 0.00 26 23 46.94 PLIN5 0 genome.wustl.edu 37 19 4533973 4533973 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 4533973 4533973 G A SNP PLIN5 ENST00000586133 human ensembl 74_37 -1 putative silent c.114 p.V38 0.000 NULL NULL - no_errors PLIN5 HGNC ENSG00000214456 tier1 - - 32 0 0.00 27 6 18.18 BMP5 0 genome.wustl.edu 37 6 55739214 55739214 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 55739214 55739214 A C SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known missense c.450 p.F150L 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 tier1 - - 68 0 0.00 49 10 16.95 CNTN4 0 genome.wustl.edu 37 3 3085331 3085331 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 3085331 3085331 C T SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known silent c.2754 p.I918 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 tier1 - - 135 0 0.00 96 70 42.17 MEGF9 0 genome.wustl.edu 37 9 123476543 123476548 + In_Frame_Del DEL CGGCGG CGGCGG - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 CGGCGG CGGCGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 123476543 123476548 CGGCGG - DEL MEGF9 ENST00000426959 human ensembl 74_37 -1 known in_frame_del c.70_65 p.AA22in_frame_del 0.255:0.243:0.247:0.263:0.993:0.998 NULL pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC ENSG00000106780 tier1 TARBP1 0 genome.wustl.edu 37 1 234561434 234561434 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 234561434 234561434 G A SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel silent c.3429 p.I1143 1.000 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 tier1 - - 83 0 0.00 64 24 27.27 HSD3B1 0 genome.wustl.edu 37 1 120050144 120050144 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 120050144 120050144 G A SNP HSD3B1 ENST00000235547 human ensembl 74_37 +1 known silent c.51 p.L17 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_D-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_D-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 tier1 - - 104 0 0.00 109 28 20.44 CLSTN2 0 genome.wustl.edu 37 3 140178487 140178487 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 140178487 140178487 C T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known silent c.1098 p.V366 0.973 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 70 0 0.00 47 28 37.33 SH3BP5L 0 genome.wustl.edu 37 1 249105793 249105793 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 249105793 249105793 G A SNP SH3BP5L ENST00000475978 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors SH3BP5L HGNC ENSG00000175137 tier1 - - 27 0 0.00 52 11 17.46 CSMD2 0 genome.wustl.edu 37 1 34090845 34090845 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 34090845 34090845 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.5306 p.R1769Q 0.994 NULL 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 CSMD2 HGNC ENSG00000121904 tier1 - - 18 0 0.00 14 9 39.13 LAMA3 0 genome.wustl.edu 37 18 21437869 21437869 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 21437869 21437869 C T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.4198 p.P1400S 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 85 0 0.00 87 16 15.53 C8orf56 0 genome.wustl.edu 37 8 104145533 104145533 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 104145533 104145533 T C SNP C8orf56 ENST00000436771 human ensembl 74_37 -1 known missense c.40 p.R14G 0.001 NULL NULL - no_errors C8orf56 HGNC ENSG00000236939 tier1 - - 60 0 0.00 47 17 26.56 DNMT3B 0 genome.wustl.edu 37 20 31389085 31389085 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 31389085 31389085 G A SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known silent c.1998 p.E666 1.000 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 tier1 - - 72 0 0.00 94 12 11.32 MAST1 0 genome.wustl.edu 37 19 12962986 12962986 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 12962986 12962986 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.934 p.E312K 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 tier1 - - 39 0 0.00 23 20 46.51 TNXB 0 genome.wustl.edu 37 6 32017937 32017937 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 32017937 32017937 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known nonsense c.9271 p.Q3091* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 54 0 0.00 46 11 19.30 B3GAT1 0 genome.wustl.edu 37 11 134254068 134254068 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 134254068 134254068 G A SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.166 p.P56S 0.037 NULL pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 tier1 - - 9 0 0.00 7 5 41.67 LTBP4 0 genome.wustl.edu 37 19 41119327 41119327 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 41119327 41119327 G A SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.2650 p.E884K 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 tier1 - - 38 0 0.00 37 35 48.61 MMP15 0 genome.wustl.edu 37 16 58079137 58079137 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 58079137 58079137 G A SNP MMP15 ENST00000219271 human ensembl 74_37 +1 known silent c.1797 p.G599 0.003 NULL pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP15 HGNC ENSG00000102996 tier1 - - 52 0 0.00 29 47 61.84 ENSG00000269636 0 genome.wustl.edu 37 5 150158214 150158214 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 150158214 150158214 C T SNP ENSG00000269636 ENST00000600109 human ensembl 74_37 +1 known missense c.83 p.S28F 0.000 NULL NULL - no_errors AC010441.1 Clone_based_ensembl_gene ENSG00000269636 tier1 - - 67 0 0.00 60 27 31.03 NUP85 0 genome.wustl.edu 37 17 73227683 73227683 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 73227683 73227683 G A SNP NUP85 ENST00000245544 human ensembl 74_37 +1 known missense c.1194 p.M398I 1.000 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 tier1 - - 33 0 0.00 24 16 40.00 KHDC3L 0 genome.wustl.edu 37 6 74072498 74072498 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 74072498 74072498 C T SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known missense c.46 p.P16S 0.002 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 tier1 - - 53 0 0.00 54 11 16.92 GADD45G 0 genome.wustl.edu 37 9 92220181 92220181 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 92220181 92220181 G A SNP GADD45G ENST00000494726 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GADD45G HGNC ENSG00000130222 tier1 - - 41 0 0.00 38 12 24.00 COL4A3 0 genome.wustl.edu 37 2 228104874 228104874 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 228104874 228104874 C T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.160 p.P54S 0.853 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 52 0 0.00 40 22 35.48 ACSM2B 0 genome.wustl.edu 37 16 20554275 20554275 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 20554275 20554275 C T SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known silent c.1470 p.E490 0.736 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 tier1 - - 87 0 0.00 115 26 18.31 PCMT1 0 genome.wustl.edu 37 6 150114782 150114782 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 150114782 150114782 C T SNP PCMT1 ENST00000367384 human ensembl 74_37 +1 known missense c.569 p.S190F 1.000 pfam_PCMT,tigrfam_PCMT pfam_PCMT,tigrfam_PCMT - no_errors PCMT1 HGNC ENSG00000120265 tier1 - - 112 0 0.00 76 48 38.10 CNBD1 0 genome.wustl.edu 37 8 88298887 88298887 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 88298887 88298887 C T SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.1030 p.P344S 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 tier1 - - 136 0 0.00 79 50 38.46 THOC3 0 genome.wustl.edu 37 5 175387067 175387067 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 175387067 175387067 G A SNP THOC3 ENST00000265097 human ensembl 74_37 -1 known silent c.961 p.L321 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_TIF_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors THOC3 HGNC ENSG00000051596 tier1 - - 69 0 0.00 61 18 22.78 TCHHL1 0 genome.wustl.edu 37 1 152058558 152058558 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 152058558 152058558 C T SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.1600 p.D534N 0.001 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 37 0 0.00 34 19 35.85 ANO2 0 genome.wustl.edu 37 12 5687149 5687149 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 5687149 5687149 C T SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.2414 p.G805E 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 32 0 0.00 27 8 22.86 PCDHA13 0 genome.wustl.edu 37 5 140262754 140262754 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140262754 140262754 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.901 p.E301K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 tier1 - - 50 0 0.00 57 13 18.57 USH2A 0 genome.wustl.edu 37 1 216270490 216270490 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 216270490 216270490 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4693 p.N1565H 0.092 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G 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 tier1 - - 77 0 0.00 84 15 15.15 MTFR1 0 genome.wustl.edu 37 8 66605949 66605949 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 66605949 66605949 T C SNP MTFR1 ENST00000262146 human ensembl 74_37 +1 known missense c.236 p.V79A 1.000 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 tier1 - - 83 0 0.00 72 22 23.40 DEPDC1 0 genome.wustl.edu 37 1 68947951 68947951 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 68947951 68947951 G A SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known missense c.1540 p.L514F 1.000 superfamily_Rho_GTPase_activation_prot pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 tier1 - - 114 0 0.00 98 52 34.67 ERCC5 0 genome.wustl.edu 37 13 103518130 103518130 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 103518130 103518130 G A SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.2068 p.E690K 0.031 tigrfam_XPG/Rad2_eukaryotes pfam_XPG_D_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_D_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 tier1 - - 51 0 0.00 51 7 12.07 TMEM132B 0 genome.wustl.edu 37 12 126128723 126128723 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 126128723 126128723 C T SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known silent c.1524 p.F508 0.065 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 109 0 0.00 113 20 15.04 PCDHB6 0 genome.wustl.edu 37 5 140531767 140531767 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140531767 140531767 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.1929 p.K643 0.281 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 PCDHB6 HGNC ENSG00000113211 tier1 - - 42 0 0.00 61 23 27.06 PRAMENP 0 genome.wustl.edu 37 22 22348915 22348915 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 22348915 22348915 G A SNP PRAMENP ENST00000337471 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PRAMENP HGNC ENSG00000197549 tier1 - - 11 0 0.00 6 5 45.45 SRRM1 0 genome.wustl.edu 37 1 24996033 24996033 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 24996033 24996033 C T SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.2195 p.P732L 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 tier1 - - 20 0 0.00 15 11 42.31 LCK 0 genome.wustl.edu 37 1 32742051 32742051 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 32742051 32742051 G A SNP LCK ENST00000333070 human ensembl 74_37 +1 known missense c.745 p.E249K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LCK HGNC ENSG00000182866 tier1 - - 111 0 0.00 147 26 15.03 CLSTN1 0 genome.wustl.edu 37 1 9795078 9795078 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 9795078 9795078 G A SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known missense c.2038 p.P680S 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 tier1 - - 47 0 0.00 44 22 33.33 ANO7 0 genome.wustl.edu 37 2 242142872 242142872 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 242142872 242142872 G A SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.1010 p.R337K 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 tier1 - - 126 0 0.00 142 45 24.06 AMBN 0 genome.wustl.edu 37 4 71472327 71472327 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 71472327 71472327 C T SNP AMBN ENST00000322937 human ensembl 74_37 +1 known silent c.1224 p.F408 0.003 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 tier1 - - 40 0 0.00 45 9 16.67 PCF11 0 genome.wustl.edu 37 11 82880096 82880096 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 82880096 82880096 C T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.2719 p.P907S 1.000 NULL pfam_R_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 tier1 - - 63 0 0.00 68 22 24.44 WHAMMP3 0 genome.wustl.edu 37 15 23191902 23191902 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 23191902 23191902 G A SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 0.967 - - - no_errors WHAMMP3 HGNC ENSG00000187667 tier1 - - 23 0 0.00 12 7 36.84 GPRC6A 0 genome.wustl.edu 37 6 117150000 117150000 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 117150000 117150000 T A SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.177 p.Q59H 1.000 superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 tier1 - - 48 0 0.00 50 14 21.88 C19orf44 0 genome.wustl.edu 37 19 16611858 16611858 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 16611858 16611858 C T SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known silent c.255 p.A85 0.000 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 tier1 - - 88 0 0.00 60 47 43.93 NCAPD2 0 genome.wustl.edu 37 12 6637747 6637747 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 6637747 6637747 G A SNP NCAPD2 ENST00000535804 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors NCAPD2 HGNC ENSG00000010292 tier1 - - 25 0 0.00 30 11 26.83 ZFP14 0 genome.wustl.edu 37 19 36831859 36831859 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 36831859 36831859 C A SNP ZFP14 ENST00000270001 human ensembl 74_37 -1 known missense c.869 p.G290V 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 ZFP14 HGNC ENSG00000142065 tier1 - - 60 0 0.00 41 41 50.00 FGFR3 0 genome.wustl.edu 37 4 1807115 1807115 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 1807115 1807115 C T SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known silent c.1452 p.C484 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 tier1 - - 30 0 0.00 46 9 16.36 MMRN1 0 genome.wustl.edu 37 4 90857534 90857534 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 90857534 90857534 C T SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known silent c.2703 p.S901 0.801 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 tier1 - - 111 0 0.00 76 68 47.22 DIAPH3 0 genome.wustl.edu 37 13 60435391 60435391 + R SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 60435391 60435391 T A SNP DIAPH3 ENST00000498416 human ensembl 74_37 -1 known rna NULL NULL 0.592 - - - no_errors DIAPH3 HGNC ENSG00000139734 tier1 - - 50 0 0.00 36 13 26.53 TMEM210 0 genome.wustl.edu 37 9 140066474 140066474 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 140066474 140066474 G A SNP TMEM210 ENST00000413619 human ensembl 74_37 -1 known silent c.6 p.A2 0.952 NULL NULL - no_errors TMEM210 HGNC ENSG00000185863 tier1 - - 78 0 0.00 102 29 22.14 PER3 0 genome.wustl.edu 37 1 7889943 7889943 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 7889943 7889943 G A SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.2909 p.G970D 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 tier1 - - 82 0 0.00 50 34 40.48 RAB4B 0 genome.wustl.edu 37 19 41292580 41292580 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 41292580 41292580 C T SNP RAB4B ENST00000378307 human ensembl 74_37 +1 known missense c.286 p.P96S 0.999 smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB4B HGNC ENSG00000167578 tier1 - - 49 0 0.00 48 12 20.00 FTL 0 genome.wustl.edu 37 19 49469165 49469165 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 49469165 49469165 G A SNP FTL ENST00000331825 human ensembl 74_37 +1 known missense c.241 p.D81N 1.000 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTL HGNC ENSG00000087086 tier1 - - 41 0 0.00 36 7 16.28 SNRNP200 0 genome.wustl.edu 37 2 96958812 96958812 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 96958812 96958812 T A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.2058 p.E686D 0.996 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_C pfam_Sec63-dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 tier1 - - 76 0 0.00 58 34 36.96 GRAMD1B 0 genome.wustl.edu 37 11 123448193 123448193 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 123448193 123448193 C T SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known missense c.142 p.H48Y 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 tier1 - - 82 0 0.00 74 38 33.63 C1orf105 0 genome.wustl.edu 37 1 172425563 172425563 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 172425563 172425563 G A SNP C1orf105 ENST00000367727 human ensembl 74_37 +1 known silent c.207 p.R69 0.028 NULL NULL - no_errors C1orf105 HGNC ENSG00000180999 tier1 - - 54 0 0.00 37 29 43.94 SOD2 0 genome.wustl.edu 37 6 160182501 160182501 + R DEL G G - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 160182501 160182501 G - DEL SOD2 ENST00000535372 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors SOD2 HGNC ENSG00000112096 tier1 48 0 0.00 64 33 34.02 DCT 0 genome.wustl.edu 37 13 95114318 95114318 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 95114318 95114318 G A SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.989 p.S330F 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 tier1 - - 95 0 0.00 55 15 21.43 CUBN 0 genome.wustl.edu 37 10 16960740 16960740 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 16960740 16960740 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.6881 p.S2294F 0.994 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 67 0 0.00 68 37 35.24 C14orf166B 0 genome.wustl.edu 37 14 77292847 77292847 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 77292847 77292847 C T SNP C14orf166B ENST00000393774 human ensembl 74_37 +1 known silent c.9 p.I3 0.023 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors C14orf166B HGNC ENSG00000100565 tier1 - - 42 0 0.00 24 9 27.27 NES 0 genome.wustl.edu 37 1 156639422 156639422 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 156639422 156639422 G A SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.4558 p.P1520S 0.002 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 tier1 - - 41 0 0.00 50 8 13.56 PCNP 0 genome.wustl.edu 37 3 101312033 101312033 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 101312033 101312033 G A SNP PCNP ENST00000486406 human ensembl 74_37 +1 known rna NULL NULL 0.916 - - - no_errors PCNP HGNC ENSG00000081154 tier1 - - 34 0 0.00 34 18 34.62 PCDH15 0 genome.wustl.edu 37 10 55719580 55719580 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 55719580 55719580 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3034 p.G1012R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 74 0 0.00 44 21 32.31 CCNF 0 genome.wustl.edu 37 16 2506847 2506847 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 2506847 2506847 C T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known silent c.2187 p.S729 0.027 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 tier1 - - 36 0 0.00 41 22 34.92 TNXB 0 genome.wustl.edu 37 6 32017184 32017184 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 32017184 32017184 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.9614 p.P3205L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 73 0 0.00 35 41 53.95 MTRNR2L13 0 genome.wustl.edu 37 4 117221025 117221025 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 117221025 117221025 G A SNP MTRNR2L13 ENST00000604093 human ensembl 74_37 +1 known silent c.69 p.R23 1.000 NULL NULL - no_errors MTRNR2L13 HGNC ENSG00000270394 tier1 - - 34 0 0.00 37 13 26.00 GRM5 0 genome.wustl.edu 37 11 88330491 88330491 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 88330491 88330491 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.1424 p.G475E 1.000 superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 tier1 - - 44 0 0.00 43 5 10.42 PSG3 0 genome.wustl.edu 37 19 43226221 43226221 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 43226221 43226221 G A SNP PSG3 ENST00000595140 human ensembl 74_37 -1 putative missense c.1265 p.S422L 0.046 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 tier1 - - 50 0 0.00 30 29 48.33 USH2A 0 genome.wustl.edu 37 1 215990402 215990402 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 215990402 215990402 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.9507 p.K3169 0.000 superfamily_Fibronectin_type3,smart_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 tier1 - - 53 0 0.00 45 21 31.82 ADAM2 0 genome.wustl.edu 37 8 39602383 39602383 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 39602383 39602383 C T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.2204 p.G735E 0.007 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 tier1 - - 22 0 0.00 18 13 41.94 GCAT 0 genome.wustl.edu 37 22 38203986 38203986 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 38203986 38203986 G A SNP GCAT ENST00000248924 human ensembl 74_37 +1 known silent c.12 p.G4 0.000 NULL pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC ENSG00000100116 tier1 - - 17 0 0.00 34 21 38.18 SEC63 0 genome.wustl.edu 37 6 108222574 108222574 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 108222574 108222574 C T SNP SEC63 ENST00000369002 human ensembl 74_37 -1 known missense c.1357 p.V453M 1.000 pfam_Sec63-dom,superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 tier1 - - 64 0 0.00 49 10 16.95 XPNPEP1 0 genome.wustl.edu 37 10 111637563 111637563 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 111637563 111637563 G A SNP XPNPEP1 ENST00000502935 human ensembl 74_37 -1 known missense c.1304 p.A435V 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 tier1 - - 73 0 0.00 73 11 13.10 PYGO1 0 genome.wustl.edu 37 15 55839183 55839183 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 55839183 55839183 C T SNP PYGO1 ENST00000302000 human ensembl 74_37 -1 known missense c.298 p.G100S 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 tier1 - - 69 0 0.00 29 24 45.28 ANKRD33B 0 genome.wustl.edu 37 5 10649624 10649624 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 10649624 10649624 C T SNP ANKRD33B ENST00000296657 human ensembl 74_37 +1 novel missense c.884 p.S295F 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33B HGNC ENSG00000164236 tier1 - - 16 0 0.00 18 12 40.00 GPR12 0 genome.wustl.edu 37 13 27333164 27333164 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 27333164 27333164 G T SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known missense c.801 p.F267L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 tier1 - - 34 0 0.00 26 4 13.33 TRAPPC2P1 0 genome.wustl.edu 37 19 57876603 57876603 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 57876603 57876603 G A SNP TRAPPC2P1 ENST00000543226 human ensembl 74_37 +1 putative silent c.402 p.G134 1.000 pfam_Sedlin,superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2P1 HGNC ENSG00000256060 tier1 - - 57 0 0.00 40 45 52.33 ATP2A1 0 genome.wustl.edu 37 16 28912047 28912047 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 28912047 28912047 G A SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known missense c.1910 p.R637Q 0.995 pfam_HAD-like_dom,superfamily_HAD-like_dom,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 ATP2A1 HGNC ENSG00000196296 tier1 rs182084601 GMAF=0.0005 65 0 0.00 55 34 37.78 ENSG00000254815 0 genome.wustl.edu 37 11 557835 557835 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 557835 557835 G A SNP ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 tier1 - - 20 0 0.00 32 15 31.91 NBPF5P 0 genome.wustl.edu 37 1 108926209 108926209 + R SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 108926209 108926209 T G SNP NBPF5P ENST00000357046 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NBPF5P HGNC ENSG00000243967 tier1 - - 112 0 0.00 100 16 13.79 CEBPZ 0 genome.wustl.edu 37 2 37455748 37455748 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 37455748 37455748 G A SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known silent c.588 p.P196 0.059 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 tier1 - - 35 0 0.00 35 14 28.57 TTN 0 genome.wustl.edu 37 2 179606002 179606002 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179606002 179606002 G A SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.11445 p.I3815 0.985 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 - - 43 0 0.00 50 9 15.25 SLC22A5 0 genome.wustl.edu 37 5 131719897 131719897 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 131719897 131719897 C T SNP SLC22A5 ENST00000435065 human ensembl 74_37 +1 known silent c.628 p.L210 0.994 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A5 HGNC ENSG00000197375 tier1 - - 98 0 0.00 73 41 35.96 ZNF99 0 genome.wustl.edu 37 19 22941204 22941204 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 22941204 22941204 G A SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.1234 p.H412Y 0.977 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 ZNF99 HGNC ENSG00000213973 tier1 - - 83 0 0.00 95 29 23.39 ACCSL 0 genome.wustl.edu 37 11 44074618 44074618 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 44074618 44074618 G A SNP ACCSL ENST00000378832 human ensembl 74_37 +1 known silent c.948 p.E316 0.952 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCSL HGNC ENSG00000205126 tier1 - - 48 0 0.00 39 11 22.00 DIP2A 0 genome.wustl.edu 37 21 47953932 47953932 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47953932 47953932 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.1448 p.S483F 0.551 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 tier1 - - 37 0 0.00 41 22 34.92 SLC2A9 0 genome.wustl.edu 37 4 9889256 9889256 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 9889256 9889256 G A SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known missense c.1226 p.P409L 0.653 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 - - 71 0 0.00 81 26 24.30 TESK1 0 genome.wustl.edu 37 9 35607352 35607352 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 35607352 35607352 G A SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known missense c.566 p.G189D 0.936 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 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 tier1 - - 56 0 0.00 26 19 42.22 SOHLH1 0 genome.wustl.edu 37 9 138588519 138588519 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 138588519 138588519 C T SNP SOHLH1 ENST00000425225 human ensembl 74_37 -1 known silent c.600 p.T200 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SOHLH1 HGNC ENSG00000165643 tier1 - - 93 0 0.00 96 46 32.39 C20orf96 0 genome.wustl.edu 37 20 257745 257745 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 257745 257745 C T SNP C20orf96 ENST00000360321 human ensembl 74_37 -1 known silent c.765 p.L255 0.762 NULL NULL - no_errors C20orf96 HGNC ENSG00000196476 tier1 - - 20 0 0.00 27 15 35.71 GBP2 0 genome.wustl.edu 37 1 89585888 89585888 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 89585888 89585888 G A SNP GBP2 ENST00000370466 human ensembl 74_37 -1 known silent c.402 p.I134 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP2 HGNC ENSG00000162645 tier1 - - 105 0 0.00 115 21 15.44 C17orf76-AS1 0 genome.wustl.edu 37 17 16342292 16342292 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 16342292 16342292 C T SNP C17orf76-AS1 ENST00000487066 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 tier1 - - 24 0 0.00 30 13 30.23 CCKAR 0 genome.wustl.edu 37 4 26483651 26483651 + Frame_Shift_Del DEL T T - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 26483651 26483651 T - DEL CCKAR ENST00000295589 human ensembl 74_37 -1 known frame_shift_del c.896 p.N299fs 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 tier1 52 0 0.00 52 12 18.75 TMEM192 0 genome.wustl.edu 37 4 166006749 166006749 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 166006749 166006749 C T SNP TMEM192 ENST00000306480 human ensembl 74_37 -1 known silent c.666 p.E222 1.000 NULL NULL - no_errors TMEM192 HGNC ENSG00000170088 tier1 - - 93 0 0.00 63 31 32.98 NBPF1 0 genome.wustl.edu 37 1 16918513 16918513 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 16918513 16918513 C G SNP NBPF1 ENST00000392963 human ensembl 74_37 -1 known missense c.4 p.V2L 0.030 NULL NULL - no_errors NBPF1 HGNC ENSG00000219481 tier1 - - 471 0 0.00 533 56 9.48 SNED1 0 genome.wustl.edu 37 2 242002276 242002276 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 242002276 242002276 C T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known silent c.2326 p.L776 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 tier1 - - 32 0 0.00 46 11 19.30 MS4A1 0 genome.wustl.edu 37 11 60235885 60235885 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 60235885 60235885 C T SNP MS4A1 ENST00000345732 human ensembl 74_37 +1 known missense c.838 p.P280S 0.957 NULL pfam_CD20-like - no_errors MS4A1 HGNC ENSG00000156738 tier1 - - 88 0 0.00 88 38 30.16 MYLK 0 genome.wustl.edu 37 3 123401113 123401113 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 123401113 123401113 G A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.3610 p.R1204W 0.999 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 tier1 rs151294221 - 70 0 0.00 64 21 24.71 LIPC 0 genome.wustl.edu 37 15 58855853 58855853 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 58855853 58855853 G A SNP LIPC ENST00000299022 human ensembl 74_37 +1 known missense c.1319 p.S440N 0.651 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC ENSG00000166035 tier1 rs6079 - 36 0 0.00 21 25 54.35 DPF2 0 genome.wustl.edu 37 11 65108977 65108977 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 65108977 65108977 C T SNP DPF2 ENST00000528416 human ensembl 74_37 +1 known nonsense c.409 p.R137* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF2 HGNC ENSG00000133884 tier1 - - 61 0 0.00 74 36 32.73 C8orf34 0 genome.wustl.edu 37 8 69358599 69358599 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 69358599 69358599 G A SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.511 p.D171N 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 74 0 0.00 47 16 25.40 NPTXR 0 genome.wustl.edu 37 22 39219093 39219093 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 39219093 39219093 C T SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known missense c.1273 p.E425K 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 tier1 - - 29 0 0.00 31 10 24.39 NENF 0 genome.wustl.edu 37 1 212617712 212617712 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 212617712 212617712 C T SNP NENF ENST00000366988 human ensembl 74_37 +1 known silent c.270 p.A90 0.999 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors NENF HGNC ENSG00000117691 tier1 - - 77 0 0.00 51 46 47.42 CSMD3 0 genome.wustl.edu 37 8 113323300 113323300 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 113323300 113323300 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.7792 p.R2598* 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 CSMD3 HGNC ENSG00000164796 tier1 - - 60 0 0.00 46 45 48.39 ZNF311 0 genome.wustl.edu 37 6 28966513 28966513 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 28966513 28966513 G A SNP ZNF311 ENST00000377179 human ensembl 74_37 -1 known missense c.413 p.P138L 0.997 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 ZNF311 HGNC ENSG00000197935 tier1 - - 45 0 0.00 52 16 23.53 TTN 0 genome.wustl.edu 37 2 179466063 179466063 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179466063 179466063 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.47957 p.R15986Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 rs202126861 - 42 0 0.00 39 8 17.02 OR10A5 0 genome.wustl.edu 37 11 6867796 6867796 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 6867796 6867796 A T SNP OR10A5 ENST00000379831 human ensembl 74_37 +1 known missense c.895 p.N299Y 0.998 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 tier1 - - 59 0 0.00 43 24 35.82 CFTR 0 genome.wustl.edu 37 7 117304782 117304782 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 117304782 117304782 T A SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.4004 p.L1335H 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 45 0 0.00 61 20 24.69 GDF5 0 genome.wustl.edu 37 20 34025453 34025453 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 34025453 34025453 G A SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known silent c.256 p.L86 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 tier1 - - 16 0 0.00 38 15 28.30 SLC22A9 0 genome.wustl.edu 37 11 63137867 63137867 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 63137867 63137867 G A SNP SLC22A9 ENST00000279178 human ensembl 74_37 +1 known missense c.339 p.M113I 0.017 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 tier1 - - 80 0 0.00 104 20 16.13 ARSJ 0 genome.wustl.edu 37 4 114899666 114899666 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 114899666 114899666 C T SNP ARSJ ENST00000315366 human ensembl 74_37 -1 known missense c.325 p.E109K 0.353 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 tier1 - - 70 0 0.00 48 30 38.46 PYGO2 0 genome.wustl.edu 37 1 154932276 154932276 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 154932276 154932276 G A SNP PYGO2 ENST00000368457 human ensembl 74_37 -1 known missense c.200 p.P67L 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 tier1 - - 58 0 0.00 65 37 36.27 TBX21 0 genome.wustl.edu 37 17 45819979 45819979 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 45819979 45819979 G A SNP TBX21 ENST00000177694 human ensembl 74_37 +1 known silent c.495 p.R165 1.000 pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX21 HGNC ENSG00000073861 tier1 - - 27 0 0.00 36 14 28.00 ITGB2 0 genome.wustl.edu 37 21 46330403 46330403 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 46330403 46330403 G A SNP ITGB2 ENST00000523126 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors ITGB2 HGNC ENSG00000160255 tier1 - - 44 0 0.00 36 18 33.33 ASXL3 0 genome.wustl.edu 37 18 31320396 31320396 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 31320396 31320396 C G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3028 p.P1010A 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 75 0 0.00 66 20 23.26 CCER1 0 genome.wustl.edu 37 12 91348286 91348286 + Silent SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 91348286 91348286 T C SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known silent c.234 p.Q78 0.009 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 tier1 - - 30 0 0.00 28 18 39.13 STXBP5L 0 genome.wustl.edu 37 3 120840490 120840490 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 120840490 120840490 C T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.608 p.S203F 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_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 - - 53 0 0.00 48 23 32.39 SLCO1B7 0 genome.wustl.edu 37 12 21196418 21196418 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 21196418 21196418 C T SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known missense c.878 p.S293L 0.002 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 tier1 - - 87 0 0.00 64 13 16.88 PHF3 0 genome.wustl.edu 37 6 64408446 64408446 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 64408446 64408446 A G SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.2933 p.K978R 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 tier1 - - 106 0 0.00 65 47 41.96 GPR124 0 genome.wustl.edu 37 8 37687454 37687454 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 37687454 37687454 G A SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.640 p.E214K 0.994 smart_Cys-rich_flank_reg_C pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 tier1 - - 18 0 0.00 26 7 21.21 ARHGAP15 0 genome.wustl.edu 37 2 144525590 144525590 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 144525590 144525590 C T SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known missense c.1277 p.S426F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 tier1 - - 45 0 0.00 27 25 48.08 YIF1A 0 genome.wustl.edu 37 11 66055073 66055073 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 66055073 66055073 G C SNP YIF1A ENST00000376901 human ensembl 74_37 -1 known missense c.423 p.I141M 1.000 pfam_Hrf1,pfam_Yip1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 tier1 - - 69 0 0.00 65 36 35.64 CLEC16A 0 genome.wustl.edu 37 16 11272360 11272360 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 11272360 11272360 C T SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.2975 p.S992F 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 tier1 - - 58 0 0.00 46 19 29.23 KDM4B 0 genome.wustl.edu 37 19 5144825 5144825 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 5144825 5144825 C T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.2933 p.S978F 0.079 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 tier1 - - 105 0 0.00 102 16 13.56 NFASC 0 genome.wustl.edu 37 1 204991701 204991701 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 204991701 204991701 C T SNP NFASC ENST00000495396 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 40 0 0.00 35 13 27.08 GRPR 0 genome.wustl.edu 37 X 16168572 16168572 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 16168572 16168572 G A SNP GRPR ENST00000380289 human ensembl 74_37 +1 known silent c.558 p.E186 0.657 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 tier1 - - 39 0 0.00 10 29 74.36 TNIP1 0 genome.wustl.edu 37 5 150413231 150413231 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 150413231 150413231 G A SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known missense c.1717 p.P573S 0.996 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 tier1 - - 25 0 0.00 29 22 43.14 FAAH 0 genome.wustl.edu 37 1 46879243 46879243 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 46879243 46879243 C T SNP FAAH ENST00000243167 human ensembl 74_37 +1 known missense c.1736 p.S579F 0.008 NULL pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 tier1 - - 40 0 0.00 45 14 23.73 ZNF230 0 genome.wustl.edu 37 19 44512953 44512953 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 44512953 44512953 C T SNP ZNF230 ENST00000429154 human ensembl 74_37 +1 known silent c.27 p.T9 0.567 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 ZNF230 HGNC ENSG00000159882 tier1 - - 108 0 0.00 77 27 25.71 LRP12 0 genome.wustl.edu 37 8 105509592 105509592 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 105509592 105509592 A C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1131 p.D377E 0.913 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 45 0 0.00 35 7 16.67 PCDHA11 0 genome.wustl.edu 37 5 140250272 140250272 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140250272 140250272 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1584 p.E528 0.989 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 89 0 0.00 97 47 32.41 ENSG00000228998 0 genome.wustl.edu 37 15 90820841 90820842 + R INS - - A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 90820841 90820842 - A INS ENSG00000228998 ENST00000411845 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors RP11-697E2.7 Clone_based_vega_gene ENSG00000228998 tier1 25 0 0.00 22 2 8.33 F5 0 genome.wustl.edu 37 1 169541485 169541485 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 169541485 169541485 C T SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.347 p.G116E 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 tier1 - - 71 0 0.00 87 29 25.00 CD34 0 genome.wustl.edu 37 1 208062945 208062945 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 208062945 208062945 C T SNP CD34 ENST00000310833 human ensembl 74_37 -1 known missense c.619 p.G207R 0.029 pfam_CD34/Podocalyxin pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 tier1 - - 55 0 0.00 48 27 36.00 PHLDB2 0 genome.wustl.edu 37 3 111604149 111604149 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 111604149 111604149 C A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.1225 p.L409I 0.256 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 43 0 0.00 23 13 36.11 DSE1L2 0 genome.wustl.edu 37 16 2287478 2287478 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 2287478 2287478 G A SNP DSE1L2 ENST00000382437 human ensembl 74_37 +1 novel splice_site c.418+1 e4+1 0.970 - - - no_errors DSE1L2 HGNC ENSG00000167968 tier1 - - 11 0 0.00 11 6 35.29 XIRP2 0 genome.wustl.edu 37 2 168103768 168103768 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 168103768 168103768 T A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.5866 p.S1956T 0.005 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 21 0 0.00 13 6 31.58 LLGL2 0 genome.wustl.edu 37 17 73559835 73559835 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 73559835 73559835 C A SNP LLGL2 ENST00000392550 human ensembl 74_37 +1 known missense c.829 p.P277T 1.000 pfam_LLGL2,superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 tier1 - - 50 0 0.00 47 23 32.86 FAM47B 0 genome.wustl.edu 37 X 34961452 34961452 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 34961452 34961452 C T SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known silent c.504 p.A168 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 tier1 - - 49 0 0.00 66 41 38.32 C18orf8 0 genome.wustl.edu 37 18 21087014 21087014 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 21087014 21087014 C T SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known missense c.260 p.T87I 1.000 superfamily_WD40_repeat_dom pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 tier1 - - 113 0 0.00 94 22 18.97 ZAN 0 genome.wustl.edu 37 7 100350371 100350371 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 100350371 100350371 C T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known silent c.2643 p.P881 0.004 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 169 0 0.00 164 63 27.75 FREM2 0 genome.wustl.edu 37 13 39425879 39425879 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 39425879 39425879 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.6799 p.G2267R 0.860 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 55 0 0.00 43 15 25.42 HMHA1 0 genome.wustl.edu 37 19 1083181 1083181 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1083181 1083181 G A SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.2784 p.G928 0.995 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 tier1 - - 28 0 0.00 42 13 23.64 UNC93B1 0 genome.wustl.edu 37 11 67766791 67766791 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 67766791 67766791 G A SNP UNC93B1 ENST00000524455 human ensembl 74_37 -1 known silent c.609 p.L203 0.001 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 tier1 - - 42 0 0.00 69 9 11.54 HSPH1 0 genome.wustl.edu 37 13 31725864 31725864 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 31725864 31725864 C T SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known missense c.551 p.G184E 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 tier1 - - 55 0 0.00 36 10 21.74 WNK4 0 genome.wustl.edu 37 17 40940798 40940798 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 40940798 40940798 G A SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.2140 p.E714K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 tier1 - - 70 0 0.00 58 44 43.14 TCEAL5 0 genome.wustl.edu 37 X 102529112 102529112 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 102529112 102529112 G A SNP TCEAL5 ENST00000372680 human ensembl 74_37 -1 known missense c.380 p.S127F 0.002 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL5 HGNC ENSG00000204065 tier1 - - 44 0 0.00 15 37 71.15 XIRP2 0 genome.wustl.edu 37 2 168106081 168106081 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 168106081 168106081 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.8179 p.H2727Y 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 29 0 0.00 30 6 16.67 SLC7A9 0 genome.wustl.edu 37 19 33353441 33353441 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 33353441 33353441 T C SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known missense c.530 p.Q177R 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 tier1 - - 54 0 0.00 58 19 24.36 FAT1 0 genome.wustl.edu 37 4 187524966 187524966 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 187524966 187524966 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known nonsense c.10714 p.Q3572* 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 49 0 0.00 49 20 28.99 HSPG2 0 genome.wustl.edu 37 1 22176548 22176548 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 22176548 22176548 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.7432 p.P2478S 0.935 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 32 0 0.00 33 14 29.79 POM121L12 0 genome.wustl.edu 37 7 53104211 53104211 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 53104211 53104211 T A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.847 p.F283I 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 tier1 - - 30 0 0.00 31 10 23.81 ALDH2 0 genome.wustl.edu 37 12 112247357 112247357 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 112247357 112247357 A C SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known missense c.1532 p.K511T 1.000 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 tier1 - - 37 0 0.00 35 11 23.91 MTRR 0 genome.wustl.edu 37 5 7892992 7892992 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 7892992 7892992 C T SNP MTRR ENST00000264668 human ensembl 74_37 +1 known missense c.1604 p.S535F 0.000 superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC ENSG00000124275 tier1 - - 44 0 0.00 35 29 45.31 TET3 0 genome.wustl.edu 37 2 74326476 74326476 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 74326476 74326476 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.2936 p.P979L 0.999 NULL NULL - no_errors TET3 HGNC ENSG00000187605 tier1 - - 30 0 0.00 29 8 21.05 PEG3 0 genome.wustl.edu 37 19 57335673 57335673 + Silent SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 57335673 57335673 G T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.351 p.L117 0.007 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 42 0 0.00 55 19 25.33 PIK3R1 0 genome.wustl.edu 37 5 67590975 67590975 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 67590975 67590975 G A SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known splice_site c.1569-1 e12-1 1.000 - - - no_errors PIK3R1 HGNC ENSG00000145675 tier1 - - 63 0 0.00 49 33 40.24 RPSA 0 genome.wustl.edu 37 3 39449826 39449826 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 39449826 39449826 G A SNP RPSA ENST00000490490 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RPSA HGNC ENSG00000168028 tier1 - - 22 0 0.00 27 9 25.00 SVEP1 0 genome.wustl.edu 37 9 113244718 113244718 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 113244718 113244718 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.2093 p.G698E 1.000 pfam_Hyalin,pfscan_Hyalin pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 49 0 0.00 63 30 32.26 TRPM4 0 genome.wustl.edu 37 19 49674906 49674906 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 49674906 49674906 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known silent c.930 p.C310 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 23 0 0.00 27 18 40.00 C17orf99 0 genome.wustl.edu 37 17 76160461 76160461 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 76160461 76160461 G A SNP C17orf99 ENST00000451352 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf99 HGNC ENSG00000187997 tier1 - - 23 0 0.00 20 4 16.67 ADAMTS19 0 genome.wustl.edu 37 5 128983562 128983562 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 128983562 128983562 C T SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known silent c.1959 p.I653 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 46 0 0.00 71 14 16.47 SIPA1L1 0 genome.wustl.edu 37 14 72152078 72152078 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 72152078 72152078 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known splice_site c.3105-1 e9-1 1.000 - - - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 117 0 0.00 49 48 49.48 PDHA2 0 genome.wustl.edu 37 4 96762304 96762304 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 96762304 96762304 G A SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.1003 p.E335K 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 - - 53 0 0.00 44 19 29.69 PDE4DIP 0 genome.wustl.edu 37 1 144892041 144892041 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 144892041 144892041 T C SNP PDE4DIP ENST00000467859 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 41 0 0.00 42 5 10.64 XIRP2 0 genome.wustl.edu 37 2 168105380 168105380 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 168105380 168105380 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7478 p.S2493F 0.003 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 rs112479318 - 51 0 0.00 48 24 33.33 PAK3 0 genome.wustl.edu 37 X 110366499 110366499 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 110366499 110366499 G A SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known silent c.168 p.G56 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 tier1 - - 17 0 0.00 13 23 63.89 HINFP 0 genome.wustl.edu 37 11 118997780 118997780 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 118997780 118997780 G A SNP HINFP ENST00000350777 human ensembl 74_37 +1 known silent c.126 p.Q42 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HINFP HGNC ENSG00000172273 tier1 - - 37 0 0.00 42 4 8.70 MAP3K11 0 genome.wustl.edu 37 11 65381110 65381110 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 65381110 65381110 C T SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known missense c.118 p.G40S 0.206 pirsf_MAPKKK9/10/11,superfamily_SH3_domain pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 tier1 - - 21 0 0.00 26 16 38.10 ZNF844 0 genome.wustl.edu 37 19 12187617 12187617 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 12187617 12187617 G A SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.1682 p.R561K 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 tier1 - - 41 0 0.00 27 23 46.00 MAP3K19 0 genome.wustl.edu 37 2 135744628 135744628 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 135744628 135744628 C T SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.1814 p.R605Q 0.000 NULL 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 MAP3K19 HGNC ENSG00000176601 tier1 rs200920212 - 44 0 0.00 39 14 26.42 DOCK3 0 genome.wustl.edu 37 3 51265457 51265457 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 51265457 51265457 A G SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.1585 p.T529A 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 41 0 0.00 41 6 12.50 ACPL2 0 genome.wustl.edu 37 3 141011754 141011754 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 141011754 141011754 C T SNP ACPL2 ENST00000286353 human ensembl 74_37 +1 known missense c.1150 p.P384S 0.997 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 tier1 - - 44 0 0.00 13 8 38.10 PPP6R3 0 genome.wustl.edu 37 11 68367956 68367956 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 68367956 68367956 C T SNP PPP6R3 ENST00000393799 human ensembl 74_37 +1 known missense c.2186 p.S729F 0.320 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 tier1 - - 51 0 0.00 45 24 34.78 RBM48 0 genome.wustl.edu 37 7 92161864 92161864 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 92161864 92161864 G A SNP RBM48 ENST00000265732 human ensembl 74_37 +1 known splice_site c.448+1 e3+1 1.000 - - - no_errors RBM48 HGNC ENSG00000127993 tier1 - - 28 0 0.00 27 16 37.21 MASP1 0 genome.wustl.edu 37 3 186944249 186944249 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 186944249 186944249 G A SNP MASP1 ENST00000337774 human ensembl 74_37 -1 known missense c.1501 p.P501S 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 39 0 0.00 56 42 42.86 SMC4 0 genome.wustl.edu 37 3 160135718 160135718 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 160135718 160135718 C T SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.1645 p.P549S 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 tier1 - - 56 0 0.00 39 21 35.00 C6orf195 0 genome.wustl.edu 37 6 2623974 2623974 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 2623974 2623974 C T SNP C6orf195 ENST00000296847 human ensembl 74_37 -1 known missense c.83 p.R28K 0.000 NULL NULL - no_errors C6orf195 HGNC ENSG00000164385 tier1 - - 33 0 0.00 20 23 53.49 KLHDC4 0 genome.wustl.edu 37 16 87734445 87734445 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 87734445 87734445 C T SNP KLHDC4 ENST00000568346 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors KLHDC4 HGNC ENSG00000104731 tier1 - - 22 0 0.00 17 10 37.04 MUC16 0 genome.wustl.edu 37 19 9072715 9072715 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 9072715 9072715 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.14731 p.E4911K 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 50 0 0.00 42 28 40.00 PCDHGA4 0 genome.wustl.edu 37 5 140735371 140735371 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140735371 140735371 C T SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.604 p.R202C 1.000 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 PCDHGA4 HGNC ENSG00000262576 tier1 - - 32 0 0.00 48 9 15.79 C1orf131 0 genome.wustl.edu 37 1 231376911 231376911 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 231376911 231376911 C T SNP C1orf131 ENST00000471936 human ensembl 74_37 -1 known rna NULL NULL 0.954 - - - no_errors C1orf131 HGNC ENSG00000143633 tier1 - - 55 0 0.00 41 40 49.38 KDM3A 0 genome.wustl.edu 37 2 86693707 86693707 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 86693707 86693707 C T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.1220 p.P407L 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 tier1 - - 57 0 0.00 69 34 33.01 ZNF155 0 genome.wustl.edu 37 19 44501414 44501414 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 44501414 44501414 T A SNP ZNF155 ENST00000270014 human ensembl 74_37 +1 known missense c.1405 p.S469T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF155 HGNC ENSG00000204920 tier1 - - 70 0 0.00 77 14 15.38 FAM83C 0 genome.wustl.edu 37 20 33875114 33875114 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 33875114 33875114 C T SNP FAM83C ENST00000374408 human ensembl 74_37 -1 known missense c.1468 p.E490K 0.998 NULL pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 tier1 - - 53 0 0.00 53 18 25.00 KNDC1 0 genome.wustl.edu 37 10 135025213 135025213 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 135025213 135025213 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.4093 p.L1365 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 43 0 0.00 27 5 15.62 LPHN3 0 genome.wustl.edu 37 4 62929261 62929261 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 62929261 62929261 C T SNP LPHN3 ENST00000506720 human ensembl 74_37 +1 novel missense c.3853 p.R1285C 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 74 0 0.00 95 17 15.18 SNX29P2 0 genome.wustl.edu 37 16 29323747 29323747 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 29323747 29323747 C T SNP SNX29P2 ENST00000398878 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors SNX29P2 HGNC ENSG00000198106 tier1 - - 37 0 0.00 30 14 31.82 PPP1R13L 0 genome.wustl.edu 37 19 45895455 45895455 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 45895455 45895455 C T SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.1498 p.E500K 0.986 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 tier1 - - 52 0 0.00 42 4 8.70 TTN 0 genome.wustl.edu 37 2 179615141 179615141 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179615141 179615141 C T SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.11986 p.E3996K 0.496 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 48 0 0.00 35 26 41.94 NEK6 0 genome.wustl.edu 37 9 127088703 127088703 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 127088703 127088703 G A SNP NEK6 ENST00000373600 human ensembl 74_37 +1 known missense c.602 p.R201Q 1.000 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,prints_Ser-Thr/Tyr_kinase_cat_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 tier1 - - 24 0 0.00 29 20 40.82 GPR56 0 genome.wustl.edu 37 16 57697426 57697426 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 57697426 57697426 C T SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known silent c.2014 p.L672 0.996 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 tier1 - - 92 0 0.00 48 15 23.81 JOSD2 0 genome.wustl.edu 37 19 51009439 51009439 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 51009439 51009439 C T SNP JOSD2 ENST00000391815 human ensembl 74_37 -1 known silent c.558 p.R186 0.059 pfscan_Josephin pfam_Josephin,prints_Josephin,pfscan_Josephin - no_errors JOSD2 HGNC ENSG00000161677 tier1 - - 59 0 0.00 63 41 39.42 ST6GALC5 0 genome.wustl.edu 37 1 77510053 77510053 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 77510053 77510053 G A SNP ST6GALC5 ENST00000477717 human ensembl 74_37 +1 known silent c.426 p.R142 0.994 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALC5 HGNC ENSG00000117069 tier1 - - 52 0 0.00 50 9 15.00 CEBPZ 0 genome.wustl.edu 37 2 37455747 37455747 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 37455747 37455747 G A SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known nonsense c.589 p.Q197* 1.000 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 tier1 - - 38 0 0.00 36 12 25.00 PCDHGA8 0 genome.wustl.edu 37 5 140773134 140773134 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140773134 140773134 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.754 p.L252F 0.033 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 tier1 - - 31 0 0.00 39 7 15.22 ARPP21 0 genome.wustl.edu 37 3 35763105 35763105 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 35763105 35763105 G A SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.902 p.R301K 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 27 0 0.00 31 14 31.11 SMG6 0 genome.wustl.edu 37 17 2075958 2075958 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 2075958 2075958 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known silent c.3351 p.S1117 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 - - 95 0 0.00 56 88 61.11 DPP6 0 genome.wustl.edu 37 7 154677386 154677386 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 154677386 154677386 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2177 p.G726E 0.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 60 0 0.00 48 31 39.24 PTPRG-AS1 0 genome.wustl.edu 37 3 62248344 62248344 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 62248344 62248344 C T SNP PTPRG-AS1 ENST00000462497 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTPRG-AS1 HGNC ENSG00000241472 tier1 - - 23 0 0.00 16 10 38.46 PRAMEF10 0 genome.wustl.edu 37 1 12954572 12954572 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 12954572 12954572 G A SNP PRAMEF10 ENST00000235347 human ensembl 74_37 -1 known silent c.711 p.L237 0.001 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 tier1 - - 194 0 0.00 202 40 16.46 SVOPL 0 genome.wustl.edu 37 7 138313074 138313074 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 138313074 138313074 G A SNP SVOPL ENST00000288513 human ensembl 74_37 -1 known silent c.442 p.L148 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 tier1 - - 28 0 0.00 38 19 33.33 DCDC1 0 genome.wustl.edu 37 11 30902755 30902755 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 30902755 30902755 C T SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.5174 p.R1725Q 0.163 smart_Doublecortin_dom pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 rs201047907 - 51 0 0.00 63 26 29.21 KGFLP2 0 genome.wustl.edu 37 9 41963856 41963856 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 41963856 41963856 C T SNP KGFLP2 ENST00000454645 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 tier1 - - 917 0 0.00 926 138 12.93 C3orf27 0 genome.wustl.edu 37 3 128292214 128292214 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 128292214 128292214 G A SNP C3orf27 ENST00000356020 human ensembl 74_37 -1 known missense c.359 p.S120F 0.000 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 tier1 - - 42 0 0.00 38 27 40.91 GJA5 0 genome.wustl.edu 37 1 147230586 147230586 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 147230586 147230586 G A SNP GJA5 ENST00000271348 human ensembl 74_37 -1 known missense c.761 p.S254F 0.019 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 tier1 - - 32 0 0.00 24 22 47.83 EM 0 genome.wustl.edu 37 4 71500252 71500252 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 71500252 71500252 A G SNP EM ENST00000396073 human ensembl 74_37 +1 known silent c.438 p.Q146 0.000 NULL NULL - no_errors EM HGNC ENSG00000132464 tier1 - - 41 0 0.00 29 14 32.56 ATXN7L3 0 genome.wustl.edu 37 17 42271725 42271725 + Frame_Shift_Del DEL A A - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 42271725 42271725 A - DEL ATXN7L3 ENST00000454077 human ensembl 74_37 -1 known frame_shift_del c.971 p.L324fs 1.000 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 tier1 59 0 0.00 44 22 33.33 GIMAP4 0 genome.wustl.edu 37 7 150269276 150269276 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 150269276 150269276 G A SNP GIMAP4 ENST00000255945 human ensembl 74_37 +1 known missense c.118 p.G40R 1.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP4 HGNC ENSG00000133574 tier1 - - 47 0 0.00 42 18 29.03 FUCA1 0 genome.wustl.edu 37 1 24191983 24191983 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 24191983 24191983 C T SNP FUCA1 ENST00000374479 human ensembl 74_37 -1 known silent c.522 p.K174 0.999 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA1 HGNC ENSG00000179163 tier1 - - 41 0 0.00 45 19 29.69 ZNF792 0 genome.wustl.edu 37 19 35449413 35449413 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 35449413 35449413 G A SNP ZNF792 ENST00000404801 human ensembl 74_37 -1 known missense c.1346 p.P449L 0.965 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF792 HGNC ENSG00000180884 tier1 - - 34 0 0.00 35 9 19.57 OR2AG1 0 genome.wustl.edu 37 11 6807180 6807180 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 6807180 6807180 C T SNP OR2AG1 ENST00000307401 human ensembl 74_37 +1 known silent c.912 p.V304 0.006 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AG1 HGNC ENSG00000170803 tier1 - - 55 0 0.00 47 28 37.33 TCF20 0 genome.wustl.edu 37 22 42610264 42610264 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 42610264 42610264 G A SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.1048 p.P350S 0.997 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 - - 74 0 0.00 103 30 22.56 CDH4 0 genome.wustl.edu 37 20 60348068 60348068 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 60348068 60348068 G A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.406 p.G136R 0.358 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 43 0 0.00 37 7 15.91 HILPDA 0 genome.wustl.edu 37 7 128096093 128096093 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 128096093 128096093 G A SNP HILPDA ENST00000481454 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors HILPDA HGNC ENSG00000135245 tier1 - - 28 0 0.00 30 14 31.82 SHROOM3 0 genome.wustl.edu 37 4 77631425 77631425 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 77631425 77631425 T G SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.440 p.L147R 1.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 70 0 0.00 84 18 17.65 NOD1 0 genome.wustl.edu 37 7 30490912 30490912 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 30490912 30490912 G A SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known silent c.2121 p.A707 0.974 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 tier1 - - 37 0 0.00 55 16 22.54 PYDC2 0 genome.wustl.edu 37 3 191179057 191179057 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 191179057 191179057 G A SNP PYDC2 ENST00000518817 human ensembl 74_37 +1 known missense c.106 p.G36R 0.007 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN - no_errors PYDC2 HGNC ENSG00000253548 tier1 - - 62 0 0.00 55 36 39.56 GPRIN1 0 genome.wustl.edu 37 5 176026413 176026413 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 176026413 176026413 G A SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known silent c.423 p.S141 0.005 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 tier1 - - 58 0 0.00 53 30 36.14 C10orf120 0 genome.wustl.edu 37 10 124457606 124457606 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 124457606 124457606 G A SNP C10orf120 ENST00000329446 human ensembl 74_37 -1 known silent c.651 p.T217 0.000 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 tier1 - - 42 0 0.00 42 12 22.22 TNFRSF19 0 genome.wustl.edu 37 13 24233222 24233222 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 24233222 24233222 C T SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known missense c.479 p.S160F 1.000 prints_TNFR_19 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 tier1 - - 25 0 0.00 18 4 18.18 LTBP1 0 genome.wustl.edu 37 2 33359995 33359995 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 33359995 33359995 C T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.1169 p.A390V 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 33 0 0.00 28 10 26.32 CYP4B1 0 genome.wustl.edu 37 1 47280916 47280916 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 47280916 47280916 G A SNP CYP4B1 ENST00000371923 human ensembl 74_37 +1 known silent c.1053 p.G351 0.574 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4B1 HGNC ENSG00000142973 tier1 - - 22 0 0.00 41 11 21.15 WDFY3 0 genome.wustl.edu 37 4 85701377 85701377 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 85701377 85701377 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.4249 p.L1417 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 56 0 0.00 57 27 32.14 RASGRF2 0 genome.wustl.edu 37 5 80422965 80422965 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 80422965 80422965 G A SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.2669 p.G890E 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 tier1 - - 31 0 0.00 41 6 12.77 RFX6 0 genome.wustl.edu 37 6 117203573 117203573 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 117203573 117203573 G A SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.548 p.G183E 1.000 pfam_D-bd_RFX pfam_D-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 72 0 0.00 42 42 50.00 KIAA1614 0 genome.wustl.edu 37 1 180905046 180905046 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 180905046 180905046 C T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known silent c.2001 p.L667 0.001 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 tier1 - - 39 0 0.00 46 34 42.50 RYR1 0 genome.wustl.edu 37 19 38937392 38937392 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38937392 38937392 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.784 p.E262K 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 45 0 0.00 35 5 12.50 RIT1 0 genome.wustl.edu 37 1 155874291 155874291 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 155874291 155874291 T A SNP RIT1 ENST00000461050 human ensembl 74_37 -1 known missense c.248 p.Q83L 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT1 HGNC ENSG00000143622 tier1 - - 51 0 0.00 39 30 43.48 ARHGAP19-SLIT1 0 genome.wustl.edu 37 10 98988928 98988928 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 98988928 98988928 C T SNP ARHGAP19-SLIT1 ENST00000453547 human ensembl 74_37 -1 known missense c.1450 p.E484K 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP19-SLIT1 HGNC ENSG00000269891 tier1 - - 81 0 0.00 60 13 17.81 PLA2G4F 0 genome.wustl.edu 37 15 42437881 42437881 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 42437881 42437881 C T SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known splice_site c.1679-1 e16-1 1.000 - - - no_errors PLA2G4F HGNC ENSG00000168907 tier1 - - 69 0 0.00 33 42 56.00 SIRPD 0 genome.wustl.edu 37 20 1532496 1532496 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 1532496 1532496 C T SNP SIRPD ENST00000381623 human ensembl 74_37 -1 known missense c.262 p.E88K 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIRPD HGNC ENSG00000125900 tier1 - - 79 0 0.00 69 38 35.51 KRT14 0 genome.wustl.edu 37 17 39739349 39739349 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 39739349 39739349 C T SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known missense c.1318 p.D440N 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 tier1 - - 43 0 0.00 52 33 38.82 FBXO46 0 genome.wustl.edu 37 19 46216114 46216114 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 46216114 46216114 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.640 p.G214R 0.714 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 tier1 - - 55 0 0.00 48 14 22.58 PANX1 0 genome.wustl.edu 37 11 93912979 93912979 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 93912979 93912979 C T SNP PANX1 ENST00000227638 human ensembl 74_37 +1 known silent c.757 p.L253 1.000 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX1 HGNC ENSG00000110218 tier1 - - 49 0 0.00 37 13 26.00 TBPL2 0 genome.wustl.edu 37 14 55903529 55903529 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 55903529 55903529 C T SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known missense c.358 p.E120K 0.032 NULL pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 tier1 rs147025657 - 83 0 0.00 37 21 36.21 SHFM1 0 genome.wustl.edu 37 7 96339125 96339125 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 96339125 96339125 C T SNP SHFM1 ENST00000476463 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SHFM1 HGNC ENSG00000127922 tier1 - - 45 0 0.00 51 31 37.80 OR2T6 0 genome.wustl.edu 37 1 248551773 248551773 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 248551773 248551773 C T SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known silent c.864 p.L288 0.133 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 tier1 - - 28 0 0.00 29 14 31.82 TTN 0 genome.wustl.edu 37 2 179638990 179638990 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179638990 179638990 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.7001 p.G2334V 1.000 pfam_Ig_I-set,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 - - 27 0 0.00 30 22 42.31 VAV1 0 genome.wustl.edu 37 19 6850689 6850689 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 6850689 6850689 T G SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.2138 p.V713G 0.954 pfam_SH2,smart_SH2,pfscan_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 tier1 - - 34 0 0.00 30 18 37.50 USH1C 0 genome.wustl.edu 37 11 17544370 17544370 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 17544370 17544370 G A SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.980 p.S327F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 tier1 - - 31 0 0.00 29 23 44.23 FAM198A 0 genome.wustl.edu 37 3 43074081 43074081 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 43074081 43074081 G A SNP FAM198A ENST00000273146 human ensembl 74_37 +1 known missense c.326 p.G109E 0.000 NULL NULL - no_errors FAM198A HGNC ENSG00000144649 tier1 - - 24 0 0.00 33 10 23.26 LOC101927832 0 genome.wustl.edu 37 3 142720353 142720353 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 142720353 142720353 C T SNP LOC101927832 ENST00000595248 human ensembl 74_37 +1 known rna NULL NULL 0.146 - - - no_errors RP11-372E1.6 Clone_based_vega_gene ENSG00000241570 tier1 - - 38 0 0.00 37 10 21.28 ATP8B3 0 genome.wustl.edu 37 19 1787147 1787147 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 1787147 1787147 G A SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known silent c.3138 p.L1046 0.057 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 tier1 - - 56 0 0.00 38 20 34.48 SCNN1D 0 genome.wustl.edu 37 1 1222294 1222294 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 1222294 1222294 G A SNP SCNN1D ENST00000379116 human ensembl 74_37 +1 known missense c.1058 p.R353Q 0.390 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 tier1 - - 35 0 0.00 29 9 23.68 SNTB1 0 genome.wustl.edu 37 8 121706083 121706083 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 121706083 121706083 C T SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known missense c.637 p.E213K 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 tier1 - - 102 0 0.00 82 38 31.15 TMIGD2 0 genome.wustl.edu 37 19 4292720 4292720 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 4292720 4292720 G A SNP TMIGD2 ENST00000301272 human ensembl 74_37 -1 known missense c.725 p.P242L 0.195 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors TMIGD2 HGNC ENSG00000167664 tier1 - - 32 0 0.00 33 9 21.43 ATN1 0 genome.wustl.edu 37 12 7043434 7043434 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 7043434 7043434 C T SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known silent c.123 p.S41 1.000 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 tier1 - - 14 0 0.00 13 5 27.78 PAK3 0 genome.wustl.edu 37 X 110366498 110366498 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 110366498 110366498 G A SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known missense c.167 p.G56E 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 tier1 - - 16 0 0.00 13 24 64.86 MCM3AP-AS1 0 genome.wustl.edu 37 21 47669508 47669508 + R DEL A A - TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47669508 47669508 A - DEL MCM3AP-AS1 ENST00000414659 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MCM3AP-AS1 HGNC ENSG00000215424 tier1 37 0 0.00 39 15 27.78 ZFAT 0 genome.wustl.edu 37 8 135596114 135596114 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 135596114 135596114 C A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.2848 p.G950W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 94 0 0.00 74 43 36.75 ZFYVE1 0 genome.wustl.edu 37 14 73437767 73437767 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 73437767 73437767 G A SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known silent c.2157 p.L719 0.986 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 tier1 - - 21 0 0.00 25 10 27.78 LOC100129534 0 genome.wustl.edu 37 1 2282810 2282810 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 2282810 2282810 C T SNP LOC100129534 ENST00000602865 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-740C4.6 Clone_based_vega_gene ENSG00000269896 tier1 - - 48 0 0.00 39 8 17.02 OR2L8 0 genome.wustl.edu 37 1 248112520 248112520 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 248112520 248112520 C T SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.361 p.R121C 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 tier1 - - 77 0 0.00 87 15 14.71 ACTR5 0 genome.wustl.edu 37 20 37400343 37400343 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 37400343 37400343 G A SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.1708 p.A570T 1.000 smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 tier1 - - 21 0 0.00 35 15 30.00 TRPM5 0 genome.wustl.edu 37 11 2443398 2443398 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 2443398 2443398 C T SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known missense c.271 p.G91R 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 tier1 - - 35 0 0.00 46 17 26.98 GNL1 0 genome.wustl.edu 37 6 30522613 30522613 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 30522613 30522613 G A SNP GNL1 ENST00000376621 human ensembl 74_37 -1 known silent c.456 p.F152 1.000 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL1 HGNC ENSG00000204590 tier1 - - 41 0 0.00 25 14 35.90 ENDOV 0 genome.wustl.edu 37 17 78409984 78409984 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 78409984 78409984 C T SNP ENDOV ENST00000518907 human ensembl 74_37 +1 putative nonsense c.184 p.R62* 0.036 NULL pfam_Endonuclease-V - no_errors ENDOV HGNC ENSG00000173818 tier1 - - 33 0 0.00 29 9 23.68 GPRC5A 0 genome.wustl.edu 37 12 13061396 13061396 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 13061396 13061396 C T SNP GPRC5A ENST00000014914 human ensembl 74_37 +1 known silent c.213 p.F71 1.000 pfam_GPCR_3_C pfam_GPCR_3_C - no_errors GPRC5A HGNC ENSG00000013588 tier1 - - 31 0 0.00 34 7 17.07 TICAM2 0 genome.wustl.edu 37 5 114916909 114916909 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 114916909 114916909 G A SNP TICAM2 ENST00000427199 human ensembl 74_37 -1 known silent c.45 p.L15 0.000 NULL pfam_TIR_dom,superfamily_TIR_dom,pfscan_TIR_dom - no_errors TICAM2 HGNC ENSG00000243414 tier1 - - 58 0 0.00 49 25 33.78 PPP1R13L 0 genome.wustl.edu 37 19 45899667 45899667 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 45899667 45899667 G A SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.740 p.P247L 0.996 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 tier1 - - 96 0 0.00 105 16 13.22 PCDHGA2 0 genome.wustl.edu 37 5 140719794 140719794 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140719794 140719794 A G SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.1256 p.N419S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 tier1 - - 38 0 0.00 40 20 33.33 MIR1261 0 genome.wustl.edu 37 11 90602360 90602360 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 90602360 90602360 T C SNP MIR1261 ENST00000408659 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MIR1261 HGNC ENSG00000221586 tier1 - - 42 0 0.00 42 14 25.00 BSND 0 genome.wustl.edu 37 1 55472945 55472945 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 55472945 55472945 G A SNP BSND ENST00000371265 human ensembl 74_37 +1 known missense c.548 p.G183D 0.791 NULL NULL - no_errors BSND HGNC ENSG00000162399 tier1 - - 86 0 0.00 74 36 32.73 ENSG00000235881 0 genome.wustl.edu 37 2 111469902 111469902 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 111469902 111469902 G A SNP ENSG00000235881 ENST00000414159 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC114776.3 Clone_based_vega_gene ENSG00000235881 tier1 - - 78 0 0.00 76 16 17.39 GABRR1 0 genome.wustl.edu 37 6 89907897 89907897 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 89907897 89907897 G A SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known silent c.414 p.T138 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 tier1 - - 72 0 0.00 82 14 14.58 SRCAP 0 genome.wustl.edu 37 16 30740868 30740868 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30740868 30740868 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.6102 p.D2034 0.999 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_D-bd_motif,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 - - 48 0 0.00 48 14 22.58 SCN10A 0 genome.wustl.edu 37 3 38768108 38768108 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 38768108 38768108 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.3076 p.P1026S 0.004 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 21 0 0.00 18 9 33.33 BATF2 0 genome.wustl.edu 37 11 64757112 64757112 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 64757112 64757112 C T SNP BATF2 ENST00000301887 human ensembl 74_37 -1 known missense c.314 p.G105E 0.000 NULL pfam_bZIP,superfamily_TF_D-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC ENSG00000168062 tier1 - - 43 0 0.00 75 22 22.68 TET1 0 genome.wustl.edu 37 10 70405073 70405073 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 70405073 70405073 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.2587 p.P863S 0.010 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 65 0 0.00 29 13 30.95 TPST2 0 genome.wustl.edu 37 22 26937024 26937024 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 26937024 26937024 G A SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known silent c.573 p.S191 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 tier1 - - 60 0 0.00 67 42 38.53 CSMD3 0 genome.wustl.edu 37 8 113299463 113299463 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 113299463 113299463 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9161 p.G3054E 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 CSMD3 HGNC ENSG00000164796 tier1 rs150721502 - 62 0 0.00 58 18 23.68 CXCR6 0 genome.wustl.edu 37 3 45988819 45988819 + Nonsense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 45988819 45988819 C A SNP CXCR6 ENST00000304552 human ensembl 74_37 +1 known nonsense c.846 p.C282* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR6 HGNC ENSG00000172215 tier1 - - 58 0 0.00 47 14 22.95 SVEP1 0 genome.wustl.edu 37 9 113209263 113209263 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 113209263 113209263 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.4178 p.R1393K 0.947 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 33 0 0.00 38 30 44.12 SETD1A 0 genome.wustl.edu 37 16 30978303 30978303 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 30978303 30978303 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known silent c.2604 p.K868 1.000 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 SETD1A HGNC ENSG00000099381 tier1 - - 63 0 0.00 53 34 39.08 OR6C75 0 genome.wustl.edu 37 12 55759635 55759635 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 55759635 55759635 C T SNP OR6C75 ENST00000343399 human ensembl 74_37 +1 known silent c.741 p.S247 0.186 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC ENSG00000187857 tier1 - - 35 0 0.00 45 10 18.18 PPFIA2 0 genome.wustl.edu 37 12 81741332 81741332 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 81741332 81741332 G A SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.2212 p.R738W 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 59 0 0.00 48 29 37.66 EEFSEC 0 genome.wustl.edu 37 3 127981053 127981053 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 127981053 127981053 C T SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.607 p.P203S 0.532 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 tier1 - - 31 0 0.00 32 23 41.82 PRDM15 0 genome.wustl.edu 37 21 43243717 43243717 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 43243717 43243717 A T SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.2816 p.F939Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 - - 29 0 0.00 32 14 29.79 LINC00617 0 genome.wustl.edu 37 14 96389202 96389202 + R SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 96389202 96389202 A G SNP LINC00617 ENST00000503525 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00617 HGNC ENSG00000250366 tier1 - - 66 0 0.00 24 34 58.62 MUC5B 0 genome.wustl.edu 37 11 1256379 1256379 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 1256379 1256379 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.2704 p.G902R 1.000 pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D 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 - - 35 0 0.00 45 14 23.73 FCGR1A 0 genome.wustl.edu 37 1 149755507 149755507 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 149755507 149755507 C T SNP FCGR1A ENST00000489479 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FCGR1A HGNC ENSG00000150337 tier1 - - 15 0 0.00 15 15 50.00 ZFP69B 0 genome.wustl.edu 37 1 40928636 40928636 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 40928636 40928636 G A SNP ZFP69B ENST00000411995 human ensembl 74_37 +1 known missense c.980 p.R327K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZFP69B HGNC ENSG00000187801 tier1 - - 41 0 0.00 47 20 29.41 WDR11 0 genome.wustl.edu 37 10 122659643 122659643 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 122659643 122659643 C T SNP WDR11 ENST00000263461 human ensembl 74_37 +1 known missense c.2618 p.S873F 0.963 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 tier1 - - 35 0 0.00 26 12 31.58 GUCY1B3 0 genome.wustl.edu 37 4 156698696 156698696 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 156698696 156698696 C T SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known missense c.199 p.L67F 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 tier1 - - 60 0 0.00 57 23 28.75 ZNRF2P2 0 genome.wustl.edu 37 7 29690807 29690807 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 29690807 29690807 C T SNP ZNRF2P2 ENST00000426767 human ensembl 74_37 -1 known rna NULL NULL 0.122 - - - no_errors ZNRF2P2 HGNC ENSG00000225264 tier1 - - 9 0 0.00 6 5 45.45 PLBD1 0 genome.wustl.edu 37 12 14689593 14689593 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 14689593 14689593 C T SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known missense c.610 p.D204N 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 tier1 - - 84 0 0.00 70 14 16.67 MYOM3 0 genome.wustl.edu 37 1 24432456 24432456 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 24432456 24432456 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known silent c.517 p.L173 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 tier1 - - 34 0 0.00 37 17 31.48 CHD6 0 genome.wustl.edu 37 20 40192714 40192714 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 40192714 40192714 A T SNP CHD6 ENST00000373222 human ensembl 74_37 -1 known missense c.74 p.I25K 0.000 NULL NULL - no_errors CHD6 HGNC ENSG00000124177 tier1 - - 88 0 0.00 74 27 26.73 XRCC6 0 genome.wustl.edu 37 22 42018077 42018077 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 42018077 42018077 C T SNP XRCC6 ENST00000405506 human ensembl 74_37 +1 putative missense c.32 p.T11I 0.033 pirsf_Ku70 pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 tier1 - - 77 0 0.00 63 43 40.57 MAN2C1 0 genome.wustl.edu 37 15 75658862 75658862 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 75658862 75658862 C T SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known splice_site c.422+1 e4+1 1.000 - - - no_errors MAN2C1 HGNC ENSG00000140400 tier1 rs138736683 - 40 0 0.00 19 7 26.92 PRRC2C 0 genome.wustl.edu 37 1 171511038 171511038 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 171511038 171511038 C T SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.4433 p.S1478F 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 - - 22 0 0.00 31 15 32.61 ASAP1 0 genome.wustl.edu 37 8 131129212 131129212 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 131129212 131129212 C T SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.1910 p.G637E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 tier1 - - 59 0 0.00 41 12 22.64 CAC1D 0 genome.wustl.edu 37 3 53845286 53845286 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 53845286 53845286 C T SNP CAC1D ENST00000288139 human ensembl 74_37 +1 known silent c.6399 p.P2133 0.975 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CAC1D HGNC ENSG00000157388 tier1 - - 34 0 0.00 20 6 23.08 CALHM1 0 genome.wustl.edu 37 10 105215167 105215167 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 105215167 105215167 G A SNP CALHM1 ENST00000329905 human ensembl 74_37 -1 known missense c.893 p.T298I 0.961 NULL NULL - no_errors CALHM1 HGNC ENSG00000185933 tier1 - - 44 0 0.00 36 11 22.45 ENSG00000265899 0 genome.wustl.edu 37 2 65894475 65894475 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 65894475 65894475 G A SNP ENSG00000265899 ENST00000583614 human ensembl 74_37 +1 novel rna NULL NULL 0.522 - - - no_errors AC007389.4 Clone_based_ensembl_gene ENSG00000265899 tier1 - - 27 0 0.00 32 8 20.00 AK5 0 genome.wustl.edu 37 1 77987609 77987609 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 77987609 77987609 G A SNP AK5 ENST00000354567 human ensembl 74_37 +1 known missense c.1409 p.G470E 0.996 pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenylate_kin1 pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 tier1 - - 62 0 0.00 74 31 29.52 ENSG00000205018 0 genome.wustl.edu 37 16 89016999 89016999 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 89016999 89016999 C T SNP ENSG00000205018 ENST00000378347 human ensembl 74_37 +1 putative missense c.473 p.P158L 0.049 NULL NULL - no_errors RP11-830F9.6 Clone_based_vega_gene ENSG00000205018 tier1 - - 207 0 0.00 105 84 44.44 MAP7D1 0 genome.wustl.edu 37 1 36638986 36638986 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 36638986 36638986 C T SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known nonsense c.646 p.Q216* 1.000 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 tier1 - - 76 0 0.00 81 35 30.17 CNNM4 0 genome.wustl.edu 37 2 97463353 97463353 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 97463353 97463353 C T SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known silent c.1650 p.L550 0.932 NULL pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 tier1 - - 45 0 0.00 51 44 46.32 TTN 0 genome.wustl.edu 37 2 179498051 179498051 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 179498051 179498051 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.35245 p.R11749* 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 - - 70 0 0.00 78 16 17.02 TMEM176A 0 genome.wustl.edu 37 7 150500764 150500764 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 150500764 150500764 C T SNP TMEM176A ENST00000004103 human ensembl 74_37 +1 known silent c.399 p.L133 0.000 pfam_CD20-like pfam_CD20-like - no_errors TMEM176A HGNC ENSG00000002933 tier1 - - 73 0 0.00 60 31 34.07 EMB 0 genome.wustl.edu 37 5 49699285 49699285 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 49699285 49699285 G A SNP EMB ENST00000303221 human ensembl 74_37 -1 known missense c.604 p.P202S 0.996 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors EMB HGNC ENSG00000170571 tier1 - - 125 0 0.00 110 37 25.00 ENSG00000254844 0 genome.wustl.edu 37 11 117691207 117691207 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 117691207 117691207 C T SNP ENSG00000254844 ENST00000531850 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-728F11.3 Clone_based_vega_gene ENSG00000254844 tier1 - - 11 0 0.00 16 4 20.00 GIMAP2 0 genome.wustl.edu 37 7 150389535 150389535 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 150389535 150389535 C T SNP GIMAP2 ENST00000223293 human ensembl 74_37 +1 known missense c.161 p.S54F 0.023 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP2 HGNC ENSG00000106560 tier1 - - 59 0 0.00 54 19 26.03 PMCHL1 0 genome.wustl.edu 37 5 22142675 22142675 + R SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 22142675 22142675 G T SNP PMCHL1 ENST00000418902 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors PMCHL1 HGNC ENSG00000168967 tier1 - - 81 0 0.00 65 39 37.50 C6orf89 0 genome.wustl.edu 37 6 36870121 36870121 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 36870121 36870121 G A SNP C6orf89 ENST00000355190 human ensembl 74_37 +1 known missense c.335 p.R112K 1.000 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 tier1 - - 54 0 0.00 24 23 48.94 ITIH1 0 genome.wustl.edu 37 3 52819120 52819120 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52819120 52819120 G A SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known missense c.1468 p.D490N 0.781 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 tier1 - - 79 0 0.00 69 25 26.60 FAM110B 0 genome.wustl.edu 37 8 59059503 59059503 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 59059503 59059503 C T SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known silent c.714 p.S238 0.998 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 tier1 - - 35 0 0.00 32 10 23.81 NLRP4 0 genome.wustl.edu 37 19 56392906 56392906 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 56392906 56392906 C T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known silent c.2938 p.L980 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 tier1 - - 52 0 0.00 73 14 15.91 KIT 0 genome.wustl.edu 37 4 55565855 55565855 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 55565855 55565855 G A SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.679 p.E227K 0.972 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 - - 83 0 0.00 59 16 21.33 CAMTA1 0 genome.wustl.edu 37 1 7798376 7798376 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 7798376 7798376 C A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.4016 p.P1339Q 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 27 0 0.00 23 3 11.54 SLC8A1 0 genome.wustl.edu 37 2 40657359 40657359 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 40657359 40657359 A T SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.62 p.V21D 0.000 prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 39 0 0.00 22 15 40.54 SNORD116-14 0 genome.wustl.edu 37 15 25325355 25325355 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 25325355 25325355 C T SNP SNORD116-14 ENST00000383894 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors SNORD116-14 HGNC ENSG00000206621 tier1 - - 139 0 0.00 45 51 53.12 HERC5 0 genome.wustl.edu 37 4 89385033 89385033 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 89385033 89385033 G C SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known missense c.808 p.G270R 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 tier1 - - 106 0 0.00 68 39 36.45 COL4A4 0 genome.wustl.edu 37 2 227892684 227892684 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 227892684 227892684 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.4015 p.P1339S 0.608 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 tier1 - - 57 0 0.00 52 12 18.75 SPSB4 0 genome.wustl.edu 37 3 140866004 140866004 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 140866004 140866004 G A SNP SPSB4 ENST00000310546 human ensembl 74_37 +1 known missense c.715 p.D239N 1.000 pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SOCS_C,pfscan_SOCS_C pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB4 HGNC ENSG00000175093 tier1 - - 47 0 0.00 64 24 27.27 SLC7A2 0 genome.wustl.edu 37 8 17406327 17406327 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 17406327 17406327 C T SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known missense c.793 p.L265F 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 tier1 - - 173 0 0.00 95 39 29.10 TPT1-AS1 0 genome.wustl.edu 37 13 45957971 45957971 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 45957971 45957971 G A SNP TPT1-AS1 ENST00000519454 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors TPT1-AS1 HGNC ENSG00000170919 tier1 - - 32 0 0.00 13 9 40.91 AGER 0 genome.wustl.edu 37 6 32150476 32150476 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 32150476 32150476 C T SNP AGER ENST00000375070 human ensembl 74_37 -1 known splice_site c.785-1 e7-1 0.992 - - - no_errors AGER HGNC ENSG00000204305 tier1 - - 19 0 0.00 26 12 31.58 EB1BP2 0 genome.wustl.edu 37 1 43638024 43638024 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 43638024 43638024 G A SNP EB1BP2 ENST00000431635 human ensembl 74_37 -1 known silent c.69 p.S23 1.000 NULL pfam_Ebp2 - no_errors EB1BP2 HGNC ENSG00000117395 tier1 - - 38 0 0.00 22 4 14.81 PBXIP1 0 genome.wustl.edu 37 1 154918538 154918538 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 154918538 154918538 G A SNP PBXIP1 ENST00000542459 human ensembl 74_37 -1 known missense c.1147 p.P383S 0.000 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 tier1 - - 19 0 0.00 17 10 37.04 C3 0 genome.wustl.edu 37 19 6697788 6697788 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 6697788 6697788 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2458 p.P820S 1.000 pfam_Macroglobln_a2 pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 43 0 0.00 36 7 16.28 HIC1 0 genome.wustl.edu 37 17 1961396 1961396 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 1961396 1961396 G A SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known missense c.1469 p.G490E 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 tier1 - - 21 0 0.00 32 17 34.69 JAKMIP2 0 genome.wustl.edu 37 5 146971250 146971250 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 146971250 146971250 C T SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known splice_site c.2413-1 e20-1 1.000 - - - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 - - 40 0 0.00 27 17 38.64 RPL7L1 0 genome.wustl.edu 37 6 42854258 42854258 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 42854258 42854258 C T SNP RPL7L1 ENST00000397415 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RPL7L1 HGNC ENSG00000146223 tier1 - - 23 0 0.00 33 9 21.43 TRPC3 0 genome.wustl.edu 37 4 122836087 122836087 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 122836087 122836087 G A SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.1189 p.P397S 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 40 0 0.00 59 11 15.71 APOL4 0 genome.wustl.edu 37 22 36587954 36587954 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 36587954 36587954 C T SNP APOL4 ENST00000352371 human ensembl 74_37 -1 known missense c.223 p.E75K 0.023 pfam_ApoL pfam_ApoL - no_errors APOL4 HGNC ENSG00000100336 tier1 - - 49 0 0.00 44 38 45.78 BAI3 0 genome.wustl.edu 37 6 69665971 69665971 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 69665971 69665971 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.1251 p.S417 0.399 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 27 0 0.00 31 8 20.51 PKHD1 0 genome.wustl.edu 37 6 51890774 51890774 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 51890774 51890774 G A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.3834 p.F1278 0.000 superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 rs145960781 - 25 0 0.00 22 9 29.03 OGDHL 0 genome.wustl.edu 37 10 50944182 50944182 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 50944182 50944182 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known silent c.2796 p.E932 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 tier1 - - 25 0 0.00 15 11 42.31 PPP1R12B 0 genome.wustl.edu 37 1 202318211 202318211 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 202318211 202318211 C T SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known silent c.232 p.L78 0.965 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 tier1 - - 12 0 0.00 11 8 42.11 ELSPBP1 0 genome.wustl.edu 37 19 48511991 48511991 + Nonsense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 48511991 48511991 G T SNP ELSPBP1 ENST00000339841 human ensembl 74_37 +1 known nonsense c.67 p.G23* 0.090 smart_FN_type2_col-bd pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors ELSPBP1 HGNC ENSG00000169393 tier1 - - 48 0 0.00 45 4 8.16 MAP3K10 0 genome.wustl.edu 37 19 40711137 40711137 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 40711137 40711137 C T SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known silent c.1122 p.H374 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 tier1 - - 20 0 0.00 22 6 21.43 ANK1 0 genome.wustl.edu 37 8 41552192 41552192 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 41552192 41552192 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.3245 p.S1082F 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 23 0 0.00 18 16 47.06 KIAA0513 0 genome.wustl.edu 37 16 85112039 85112039 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 85112039 85112039 C T SNP KIAA0513 ENST00000258180 human ensembl 74_37 +1 known silent c.801 p.P267 0.999 NULL pfam_SBF2 - no_errors KIAA0513 HGNC ENSG00000135709 tier1 - - 16 0 0.00 4 5 55.56 EDC4 0 genome.wustl.edu 37 16 67913638 67913638 + Silent SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 67913638 67913638 A C SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known silent c.1782 p.T594 0.445 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 tier1 - - 27 0 0.00 15 11 42.31 USP42 0 genome.wustl.edu 37 7 6193488 6193488 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 6193488 6193488 G A SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.2303 p.G768D 0.001 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 tier1 - - 32 0 0.00 51 18 26.09 ELMOD2 0 genome.wustl.edu 37 4 141446625 141446625 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 141446625 141446625 C T SNP ELMOD2 ENST00000323570 human ensembl 74_37 +1 known nonsense c.43 p.R15* 1.000 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD2 HGNC ENSG00000179387 tier1 - - 74 0 0.00 66 25 27.47 HELQ 0 genome.wustl.edu 37 4 84339339 84339339 + Silent SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 84339339 84339339 A T SNP HELQ ENST00000295488 human ensembl 74_37 -1 known silent c.2970 p.V990 0.997 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_D_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 tier1 - - 101 0 0.00 84 37 30.58 KRT12 0 genome.wustl.edu 37 17 39022967 39022967 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 39022967 39022967 G A SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known nonsense c.472 p.R158* 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 tier1 - - 39 0 0.00 29 4 12.12 C5orf42 0 genome.wustl.edu 37 5 37169560 37169560 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 37169560 37169560 G A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.6566 p.P2189L 0.001 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 59 0 0.00 54 34 38.64 ECEL1 0 genome.wustl.edu 37 2 233345431 233345431 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 233345431 233345431 G A SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known silent c.2148 p.A716 0.998 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 tier1 - - 58 0 0.00 32 37 53.62 PCID2 0 genome.wustl.edu 37 13 113845241 113845241 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 113845241 113845241 A G SNP PCID2 ENST00000246505 human ensembl 74_37 -1 known silent c.574 p.L192 0.988 NULL pfam_PCI_dom,smart_PAM - no_errors PCID2 HGNC ENSG00000126226 tier1 - - 53 0 0.00 50 17 25.37 NYAP2 0 genome.wustl.edu 37 2 226447297 226447297 + Silent SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 226447297 226447297 C G SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.1164 p.P388 0.093 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 tier1 - - 44 0 0.00 34 22 39.29 SIK1 0 genome.wustl.edu 37 21 44839293 44839293 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 44839293 44839293 G A SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known silent c.1185 p.T395 0.003 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 tier1 - - 59 0 0.00 55 26 32.10 ACAD9 0 genome.wustl.edu 37 3 128629615 128629615 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 128629615 128629615 C T SNP ACAD9 ENST00000308982 human ensembl 74_37 +1 known missense c.1724 p.A575V 0.999 superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ENSG00000177646 tier1 - - 49 0 0.00 31 20 39.22 DALRD3 0 genome.wustl.edu 37 3 49053742 49053742 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49053742 49053742 G A SNP DALRD3 ENST00000341949 human ensembl 74_37 -1 known missense c.1178 p.S393F 1.000 NULL pfam_DALR_anticod-bd,superfamily_tRsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC ENSG00000178149 tier1 - - 23 0 0.00 37 19 33.93 OR8H3 0 genome.wustl.edu 37 11 55890478 55890478 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 55890478 55890478 C T SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.630 p.S210 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 64 0 0.00 58 14 19.44 CDC42BPA 0 genome.wustl.edu 37 1 227335252 227335252 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 227335252 227335252 G A SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known silent c.702 p.S234 1.000 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 pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 35 0 0.00 14 7 33.33 HIF3A 0 genome.wustl.edu 37 19 46832653 46832653 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 46832653 46832653 G A SNP HIF3A ENST00000377670 human ensembl 74_37 +1 known missense c.1630 p.G544R 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 tier1 - - 48 0 0.00 40 13 24.53 MUC4 0 genome.wustl.edu 37 3 195507565 195507565 + Missense_Mutation SNP T T G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 195507565 195507565 T G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.10886 p.Q3629P 0.332 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 - - 165 0 0.00 221 23 9.43 SPOCK3 0 genome.wustl.edu 37 4 167675837 167675837 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 167675837 167675837 G A SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known silent c.762 p.G254 0.957 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 42 0 0.00 54 17 23.94 PPEF1 0 genome.wustl.edu 37 X 18725934 18725934 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 18725934 18725934 G A SNP PPEF1 ENST00000361511 human ensembl 74_37 +1 known missense c.35 p.R12K 0.000 pirsf_Ser/Thr-Pase_EF-hand_contain pfam_PEstase_dom,pfam_EF_hand_dom,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 tier1 - - 37 0 0.00 14 36 72.00 ASB5 0 genome.wustl.edu 37 4 177158510 177158510 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 177158510 177158510 C T SNP ASB5 ENST00000511879 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ASB5 HGNC ENSG00000164122 tier1 - - 69 0 0.00 56 40 41.67 GVINP1 0 genome.wustl.edu 37 11 6738517 6738517 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 6738517 6738517 C T SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 31 0 0.00 30 8 21.05 DVL3 0 genome.wustl.edu 37 3 183884038 183884038 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 183884038 183884038 A G SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known silent c.888 p.G296 0.936 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 tier1 - - 30 0 0.00 33 10 23.26 CPXM1 0 genome.wustl.edu 37 20 2776316 2776316 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 2776316 2776316 G A SNP CPXM1 ENST00000380605 human ensembl 74_37 -1 known missense c.1649 p.P550L 0.900 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 CPXM1 HGNC ENSG00000088882 tier1 - - 56 0 0.00 47 32 40.51 ECHDC3 0 genome.wustl.edu 37 10 11805393 11805393 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 11805393 11805393 C T SNP ECHDC3 ENST00000379215 human ensembl 74_37 +1 known silent c.762 p.T254 1.000 NULL pfam_Crotonase_core_superfam - no_errors ECHDC3 HGNC ENSG00000134463 tier1 - - 61 0 0.00 66 21 24.14 TNS1 0 genome.wustl.edu 37 2 218682868 218682868 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 218682868 218682868 A T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.3875 p.I1292K 0.001 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 tier1 - - 61 0 0.00 57 56 49.56 DHCR24 0 genome.wustl.edu 37 1 55340802 55340802 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 55340802 55340802 C T SNP DHCR24 ENST00000371269 human ensembl 74_37 -1 known silent c.576 p.L192 1.000 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors DHCR24 HGNC ENSG00000116133 tier1 - - 33 0 0.00 33 19 36.54 NEDD9 0 genome.wustl.edu 37 6 11185840 11185840 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 11185840 11185840 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known nonsense c.2060 p.W687* 1.000 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 tier1 - - 41 0 0.00 39 22 36.07 CDH12 0 genome.wustl.edu 37 5 21817074 21817074 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 21817074 21817074 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.982 p.G328R 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 CDH12 HGNC ENSG00000154162 tier1 - - 43 0 0.00 48 15 23.44 NOTCH2 0 genome.wustl.edu 37 1 120510232 120510232 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 120510232 120510232 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.1277 p.P426L 1.000 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 tier1 - - 57 0 0.00 28 17 37.78 OR5L1 0 genome.wustl.edu 37 11 55579651 55579651 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 55579651 55579651 G A SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.709 p.A237T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 tier1 - - 58 0 0.00 42 10 19.23 LYPLA1 0 genome.wustl.edu 37 8 54960518 54960519 + R INS - - T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 54960518 54960519 - T INS LYPLA1 ENST00000519272 human ensembl 74_37 -1 known rna NULL NULL 0.982:0.984 - - - no_errors LYPLA1 HGNC ENSG00000120992 tier1 68 0 0.00 68 26 27.66 PNLIPRP1 0 genome.wustl.edu 37 10 118354011 118354011 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 118354011 118354011 G A SNP PNLIPRP1 ENST00000480870 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PNLIPRP1 HGNC ENSG00000187021 tier1 - - 17 0 0.00 21 9 30.00 TCEB2 0 genome.wustl.edu 37 16 2825483 2825483 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 2825483 2825483 G A SNP TCEB2 ENST00000262306 human ensembl 74_37 -1 known silent c.213 p.A71 0.996 smart_Ubiquitin_dom pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors TCEB2 HGNC ENSG00000103363 tier1 - - 48 0 0.00 51 8 13.33 NLRP8 0 genome.wustl.edu 37 19 56467043 56467043 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 56467043 56467043 G C SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1619 p.R540P 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 tier1 - - 58 0 0.00 49 9 15.52 ENSG00000254571 0 genome.wustl.edu 37 9 102677427 102677427 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 102677427 102677427 G A SNP ENSG00000254571 ENST00000524512 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-60I3.4 Clone_based_vega_gene ENSG00000254571 tier1 - - 47 0 0.00 18 15 45.45 SALL2 0 genome.wustl.edu 37 14 21993214 21993214 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 21993214 21993214 C T SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known silent c.648 p.T216 0.004 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 tier1 - - 66 0 0.00 39 34 46.58 PTPN21 0 genome.wustl.edu 37 14 88945912 88945912 + Missense_Mutation SNP G G C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 88945912 88945912 G C SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1863 p.S621R 0.999 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,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 PTPN21 HGNC ENSG00000070778 tier1 - - 30 0 0.00 16 24 60.00 MUC16 0 genome.wustl.edu 37 19 9061119 9061119 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 9061119 9061119 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.26327 p.P8776L 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 57 0 0.00 60 13 17.81 RYR3 0 genome.wustl.edu 37 15 34147010 34147010 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 34147010 34147010 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.13904 p.G4635D 1.000 pfam_Ion_trans_dom pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 64 0 0.00 18 25 58.14 KRT5 0 genome.wustl.edu 37 12 52912820 52912820 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 52912820 52912820 C T SNP KRT5 ENST00000252242 human ensembl 74_37 -1 known missense c.680 p.R227K 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 tier1 - - 79 0 0.00 80 18 18.37 WDR87 0 genome.wustl.edu 37 19 38375718 38375718 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38375718 38375718 G T SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known missense c.8593 p.P2865T 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 33 0 0.00 57 15 20.83 LOC100506321 0 genome.wustl.edu 37 14 65560416 65560416 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 65560416 65560416 G A SNP LOC100506321 ENST00000553633 human ensembl 74_37 +1 known rna NULL NULL 0.414 - - - no_errors RP11-840I19.3 Clone_based_vega_gene ENSG00000259118 tier1 - - 42 0 0.00 25 19 43.18 GABRE 0 genome.wustl.edu 37 X 151123886 151123886 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 151123886 151123886 A C SNP GABRE ENST00000370328 human ensembl 74_37 -1 known missense c.1091 p.L364R 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 tier1 - - 14 0 0.00 14 8 36.36 RABL6 0 genome.wustl.edu 37 9 139732377 139732377 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 139732377 139732377 A T SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.1193 p.D398V 0.863 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 tier1 - - 67 0 0.00 66 29 30.21 FYN 0 genome.wustl.edu 37 6 112021423 112021423 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 112021423 112021423 C T SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.746 p.G249E 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 tier1 - - 60 0 0.00 48 14 22.58 PLIN4 0 genome.wustl.edu 37 19 4510569 4510569 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 4510569 4510569 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.3361 p.G1121R 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 tier1 - - 83 0 0.00 58 38 39.58 SALL2 0 genome.wustl.edu 37 14 21993213 21993213 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 21993213 21993213 C T SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known missense c.649 p.V217M 0.949 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 tier1 - - 65 0 0.00 40 33 45.21 SATB1 0 genome.wustl.edu 37 3 18392878 18392878 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 18392878 18392878 C T SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.1802 p.G601E 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 tier1 - - 81 0 0.00 63 26 29.21 TLK1 0 genome.wustl.edu 37 2 171939308 171939308 + Missense_Mutation SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 171939308 171939308 T C SNP TLK1 ENST00000431350 human ensembl 74_37 -1 known missense c.313 p.S105G 1.000 NULL 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 TLK1 HGNC ENSG00000198586 tier1 - - 115 0 0.00 52 53 50.48 OR2T33 0 genome.wustl.edu 37 1 248436694 248436694 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 248436694 248436694 C T SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known silent c.423 p.R141 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 tier1 - - 107 0 0.00 142 51 26.29 ZMYM3 0 genome.wustl.edu 37 X 70469918 70469918 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 70469918 70469918 G A SNP ZMYM3 ENST00000373978 human ensembl 74_37 -1 known missense c.920 p.P307L 0.000 NULL NULL - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 26 0 0.00 16 34 68.00 PKHD1L1 0 genome.wustl.edu 37 8 110439312 110439312 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 110439312 110439312 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.2927 p.R976Q 0.963 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 63 0 0.00 84 17 16.67 GVINP1 0 genome.wustl.edu 37 11 6742293 6742293 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 6742293 6742293 G A SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 38 0 0.00 33 15 31.25 SERINC5 0 genome.wustl.edu 37 5 79439606 79439606 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 79439606 79439606 G A SNP SERINC5 ENST00000512721 human ensembl 74_37 -1 novel silent c.1266 p.F422 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC ENSG00000164300 tier1 - - 38 0 0.00 34 21 38.18 C3 0 genome.wustl.edu 37 19 6693028 6693028 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 6693028 6693028 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known silent c.3297 p.V1099 0.991 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 53 0 0.00 33 18 35.29 IGF2BP2 0 genome.wustl.edu 37 3 185407306 185407306 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 185407306 185407306 C T SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known missense c.514 p.G172R 1.000 NULL pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 tier1 - - 28 0 0.00 51 14 21.54 FAM71E2 0 genome.wustl.edu 37 19 55869808 55869808 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 55869808 55869808 C T SNP FAM71E2 ENST00000424985 human ensembl 74_37 -1 novel missense c.2428 p.E810K 0.000 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 tier1 - - 46 0 0.00 47 12 20.34 PCOLCE 0 genome.wustl.edu 37 7 100202811 100202811 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 100202811 100202811 C T SNP PCOLCE ENST00000223061 human ensembl 74_37 +1 known silent c.561 p.S187 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE HGNC ENSG00000106333 tier1 - - 72 0 0.00 66 21 24.14 ARHGAP28 0 genome.wustl.edu 37 18 6824815 6824815 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 6824815 6824815 C T SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known silent c.177 p.L59 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 50 0 0.00 28 15 34.88 NTM 0 genome.wustl.edu 37 11 131530993 131530993 + R SNP T T C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 131530993 131530993 T C SNP NTM ENST00000477098 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors NTM HGNC ENSG00000182667 tier1 - - 39 0 0.00 40 15 27.27 DOC2B 0 genome.wustl.edu 37 17 11269 11269 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 11269 11269 G A SNP DOC2B ENST00000343572 human ensembl 74_37 -1 known silent c.702 p.P234 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors DOC2B HGNC ENSG00000272636 tier1 - - 60 0 0.00 57 35 38.04 KIF21A 0 genome.wustl.edu 37 12 39757000 39757000 + Missense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 39757000 39757000 C A SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.919 p.V307L 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 tier1 - - 56 0 0.00 45 32 41.56 TONSL 0 genome.wustl.edu 37 8 145659074 145659074 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 145659074 145659074 G A SNP TONSL ENST00000409379 human ensembl 74_37 -1 known silent c.3456 p.L1152 0.973 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 - - 48 0 0.00 40 13 24.53 TTC16 0 genome.wustl.edu 37 9 130485607 130485607 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 130485607 130485607 C T SNP TTC16 ENST00000373289 human ensembl 74_37 +1 known silent c.867 p.L289 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC16 HGNC ENSG00000167094 tier1 - - 46 0 0.00 53 26 32.91 KCNK7 0 genome.wustl.edu 37 11 65363172 65363172 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 65363172 65363172 C T SNP KCNK7 ENST00000340313 human ensembl 74_37 -1 known silent c.72 p.G24 1.000 pirsf_2pore_dom_K_chnl_TASK pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 tier1 - - 9 0 0.00 9 10 52.63 AGTPBP1 0 genome.wustl.edu 37 9 88204543 88204543 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 88204543 88204543 C T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known silent c.2658 p.R886 0.951 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 tier1 - - 103 0 0.00 64 39 37.86 MTMR7 0 genome.wustl.edu 37 8 17206510 17206510 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 17206510 17206510 C T SNP MTMR7 ENST00000180173 human ensembl 74_37 -1 known silent c.549 p.R183 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR7 HGNC ENSG00000003987 tier1 - - 59 0 0.00 49 11 18.33 ZNF71 0 genome.wustl.edu 37 19 57133647 57133647 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 57133647 57133647 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.992 p.C331Y 1.000 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 - - 40 0 0.00 45 10 18.18 ENSG00000263264 0 genome.wustl.edu 37 19 7440735 7440735 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 7440735 7440735 C T SNP ENSG00000263264 ENST00000576789 human ensembl 74_37 +1 novel silent c.405 p.T135 0.011 NULL NULL - no_errors CTB-133G6.1 Clone_based_vega_gene ENSG00000263264 tier1 - - 35 0 0.00 23 22 48.89 STRA13 0 genome.wustl.edu 37 17 79977184 79977184 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 79977184 79977184 C T SNP STRA13 ENST00000584347 human ensembl 74_37 -1 putative missense c.347 p.R116K 0.999 NULL pfam_CENP-X - no_errors STRA13 HGNC ENSG00000169689 tier1 - - 49 0 0.00 55 33 37.50 CLTC 0 genome.wustl.edu 37 17 57758360 57758360 + Nonsense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 57758360 57758360 G T SNP CLTC ENST00000269122 human ensembl 74_37 +1 known nonsense c.3007 p.E1003* 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 tier1 - - 44 0 0.00 44 4 8.33 SRRM3 0 genome.wustl.edu 37 7 75889235 75889235 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 75889235 75889235 C T SNP SRRM3 ENST00000388802 human ensembl 74_37 +1 known missense c.347 p.T116I 0.988 NULL pfam_mR_splic_Cwf21 - no_errors SRRM3 HGNC ENSG00000177679 tier1 - - 95 0 0.00 135 34 20.12 FER1L4 0 genome.wustl.edu 37 20 34164206 34164206 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 34164206 34164206 C T SNP FER1L4 ENST00000440443 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors FER1L4 HGNC ENSG00000088340 tier1 - - 95 0 0.00 129 18 12.24 LRP4 0 genome.wustl.edu 37 11 46900749 46900749 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 46900749 46900749 C T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.2932 p.D978N 0.895 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 tier1 - - 51 0 0.00 57 27 32.14 NES 0 genome.wustl.edu 37 1 156641983 156641983 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 156641983 156641983 G A SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.1997 p.S666L 0.010 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 tier1 - - 36 0 0.00 23 9 28.12 SMYD4 0 genome.wustl.edu 37 17 1704154 1704154 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 1704154 1704154 G A SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known silent c.534 p.A178 0.000 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 tier1 - - 44 0 0.00 48 11 18.33 TDRD15 0 genome.wustl.edu 37 2 21365616 21365616 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 21365616 21365616 G A SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.5277 p.M1759I 0.995 pfam_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 69 0 0.00 54 8 12.90 CILP 0 genome.wustl.edu 37 15 65496613 65496613 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 65496613 65496613 C T SNP CILP ENST00000261883 human ensembl 74_37 -1 known silent c.912 p.V304 0.078 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 tier1 - - 100 0 0.00 60 30 33.33 RP1L1 0 genome.wustl.edu 37 8 10465862 10465862 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 10465862 10465862 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known nonsense c.5746 p.Q1916* 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 47 0 0.00 40 16 28.57 PRKCB 0 genome.wustl.edu 37 16 24043503 24043503 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 24043503 24043503 C T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.335 p.P112L 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 36 0 0.00 22 14 37.84 DPPA2 0 genome.wustl.edu 37 3 109027921 109027921 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 109027921 109027921 G A SNP DPPA2 ENST00000478945 human ensembl 74_37 -1 known silent c.348 p.I116 0.870 pfscan_SAP_dom pfscan_SAP_dom - no_errors DPPA2 HGNC ENSG00000163530 tier1 - - 46 0 0.00 36 11 23.40 DH8 0 genome.wustl.edu 37 6 38690730 38690730 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 38690730 38690730 C T SNP DH8 ENST00000449981 human ensembl 74_37 +1 known missense c.145 p.P49S 0.000 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH8 HGNC ENSG00000124721 tier1 - - 46 0 0.00 43 11 20.37 TUBA4B 0 genome.wustl.edu 37 2 220136223 220136223 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 220136223 220136223 C T SNP TUBA4B ENST00000490341 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBA4B HGNC ENSG00000243910 tier1 - - 69 0 0.00 40 39 49.37 ZNF469 0 genome.wustl.edu 37 16 88494374 88494374 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 88494374 88494374 C T SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.496 p.L166F 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 9 0 0.00 6 5 45.45 UQCRB 0 genome.wustl.edu 37 8 97247742 97247742 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 97247742 97247742 G A SNP UQCRB ENST00000521036 human ensembl 74_37 -1 known missense c.17 p.A6V 0.006 superfamily_QCR7 pfam_QCR7,superfamily_QCR7 - no_errors UQCRB HGNC ENSG00000156467 tier1 rs200758329 GMAF=0.0005 71 0 0.00 66 32 32.65 GEN1 0 genome.wustl.edu 37 2 17962840 17962840 + Silent SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 17962840 17962840 G T SNP GEN1 ENST00000317402 human ensembl 74_37 +1 known silent c.2361 p.R787 0.015 NULL pfam_XPG-I_dom,pfam_XPG_D_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_D_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 tier1 - - 41 0 0.00 56 5 8.20 WDR87 0 genome.wustl.edu 37 19 38378830 38378830 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 38378830 38378830 C T SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known silent c.5481 p.K1827 0.000 superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 37 0 0.00 23 6 20.69 CDC5L 0 genome.wustl.edu 37 6 44394440 44394440 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 44394440 44394440 C T SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known silent c.1872 p.F624 1.000 pfam_DUF3351 pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 tier1 - - 60 0 0.00 56 19 25.33 CTN3 0 genome.wustl.edu 37 10 68979616 68979616 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 68979616 68979616 G A SNP CTN3 ENST00000373744 human ensembl 74_37 -1 known missense c.592 p.P198S 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN3 HGNC ENSG00000183230 tier1 - - 68 0 0.00 45 21 31.82 SLC26A2 0 genome.wustl.edu 37 5 149360913 149360913 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 149360913 149360913 C T SNP SLC26A2 ENST00000286298 human ensembl 74_37 +1 known missense c.1757 p.P586L 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC ENSG00000155850 tier1 - - 43 0 0.00 28 19 40.43 KIFC2 0 genome.wustl.edu 37 8 145694172 145694172 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 145694172 145694172 C T SNP KIFC2 ENST00000301332 human ensembl 74_37 +1 known silent c.1068 p.T356 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 tier1 - - 82 0 0.00 63 27 30.00 CIC 0 genome.wustl.edu 37 19 42794778 42794778 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 42794778 42794778 C T SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.1858 p.P620S 0.955 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 tier1 rs138450756 - 24 0 0.00 21 13 38.24 PER1 0 genome.wustl.edu 37 17 8046952 8046952 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 8046952 8046952 G A SNP PER1 ENST00000317276 human ensembl 74_37 -1 known missense c.2704 p.P902S 0.956 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 tier1 - - 24 0 0.00 19 14 42.42 GLP1R 0 genome.wustl.edu 37 6 39025329 39025329 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 39025329 39025329 C T SNP GLP1R ENST00000373256 human ensembl 74_37 +1 known missense c.257 p.P86L 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC ENSG00000112164 tier1 - - 99 0 0.00 94 22 18.97 MAGEB10 0 genome.wustl.edu 37 X 27839441 27839441 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 27839441 27839441 G A SNP MAGEB10 ENST00000356790 human ensembl 74_37 +1 known silent c.18 p.K6 0.015 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 tier1 - - 17 0 0.00 27 11 28.95 ACTBL2 0 genome.wustl.edu 37 5 56777818 56777818 + Silent SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 56777818 56777818 C G SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known silent c.717 p.R239 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 tier1 - - 34 0 0.00 26 16 38.10 PRDM2 0 genome.wustl.edu 37 1 14108398 14108398 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 14108398 14108398 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.4108 p.P1370S 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 tier1 - - 74 0 0.00 54 43 44.33 C12orf50 0 genome.wustl.edu 37 12 88379735 88379735 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 88379735 88379735 C T SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.1018 p.D340N 0.997 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 tier1 - - 44 0 0.00 60 12 16.67 SCN1A 0 genome.wustl.edu 37 2 166848835 166848835 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 166848835 166848835 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.4950 p.I1650 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 125 0 0.00 133 50 27.17 THSD7B 0 genome.wustl.edu 37 2 137917851 137917851 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 137917851 137917851 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.1438 p.P480S 0.996 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 61 0 0.00 47 15 24.19 CLK4 0 genome.wustl.edu 37 5 178039427 178039427 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 178039427 178039427 C T SNP CLK4 ENST00000316308 human ensembl 74_37 -1 known silent c.1041 p.E347 1.000 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 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 CLK4 HGNC ENSG00000113240 tier1 - - 83 0 0.00 51 26 33.77 FAM71B 0 genome.wustl.edu 37 5 156590528 156590528 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 156590528 156590528 G A SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.748 p.P250S 0.000 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 tier1 - - 39 0 0.00 28 25 47.17 OLFML3 0 genome.wustl.edu 37 1 114523969 114523969 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 114523969 114523969 G A SNP OLFML3 ENST00000320334 human ensembl 74_37 +1 known missense c.799 p.G267S 0.271 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 tier1 - - 30 0 0.00 18 11 37.93 COL6A1 0 genome.wustl.edu 37 21 47417647 47417647 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47417647 47417647 C T SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.1495 p.P499S 0.992 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 107 0 0.00 118 25 17.48 ENSG00000261709 0 genome.wustl.edu 37 15 45507195 45507195 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 45507195 45507195 G A SNP ENSG00000261709 ENST00000564565 human ensembl 74_37 -1 known rna NULL NULL 0.229 - - - no_errors SNORA11 RFAM ENSG00000261709 tier1 - - 155 0 0.00 70 78 52.70 IQCH 0 genome.wustl.edu 37 15 67709268 67709268 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 67709268 67709268 G A SNP IQCH ENST00000335894 human ensembl 74_37 +1 known splice_site c.2098-1 e15-1 1.000 - - - no_errors IQCH HGNC ENSG00000103599 tier1 - - 33 0 0.00 11 13 54.17 NPAS3 0 genome.wustl.edu 37 14 34269006 34269006 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 34269006 34269006 C T SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.1493 p.P498L 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 tier1 - - 101 0 0.00 49 54 52.43 ENSG00000256209 0 genome.wustl.edu 37 12 131953915 131953915 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 131953915 131953915 C T SNP ENSG00000256209 ENST00000535133 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-897M7.1 Clone_based_vega_gene ENSG00000256209 tier1 - - 16 0 0.00 10 18 64.29 SPAG16 0 genome.wustl.edu 37 2 214161842 214161842 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 214161842 214161842 C T SNP SPAG16 ENST00000420497 human ensembl 74_37 +1 known missense c.280 p.H94Y 0.030 NULL NULL - no_errors SPAG16 HGNC ENSG00000144451 tier1 - - 54 0 0.00 39 7 15.22 C6orf47-AS1 0 genome.wustl.edu 37 6 31628398 31628398 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 31628398 31628398 C T SNP C6orf47-AS1 ENST00000422049 human ensembl 74_37 +1 known rna NULL NULL 0.324 - - - no_errors C6orf47-AS1 HGNC ENSG00000227198 tier1 - - 27 0 0.00 22 29 56.86 SLC39A7 0 genome.wustl.edu 37 6 33171585 33171585 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 33171585 33171585 G A SNP SLC39A7 ENST00000374675 human ensembl 74_37 +1 known missense c.1405 p.E469K 0.999 NULL pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 tier1 - - 25 0 0.00 12 7 36.84 PDYN 0 genome.wustl.edu 37 20 1961227 1961227 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 1961227 1961227 C T SNP PDYN ENST00000217305 human ensembl 74_37 -1 known silent c.507 p.K169 0.932 NULL pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 tier1 - - 37 0 0.00 68 14 17.07 NUP93 0 genome.wustl.edu 37 16 56855473 56855473 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 56855473 56855473 C T SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known missense c.622 p.L208F 1.000 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 tier1 - - 97 0 0.00 47 36 43.37 NMUR2 0 genome.wustl.edu 37 5 151784535 151784535 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 151784535 151784535 G A SNP NMUR2 ENST00000255262 human ensembl 74_37 -1 known missense c.140 p.P47L 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 tier1 - - 68 0 0.00 48 23 32.39 TOE1 0 genome.wustl.edu 37 1 45806842 45806842 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 45806842 45806842 C T SNP TOE1 ENST00000372090 human ensembl 74_37 +1 known silent c.150 p.S50 0.981 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom - no_errors TOE1 HGNC ENSG00000132773 tier1 - - 69 0 0.00 101 20 16.53 ABI3BP 0 genome.wustl.edu 37 3 100470480 100470480 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 100470480 100470480 C T SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.3028 p.E1010K 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 tier1 - - 115 0 0.00 64 45 40.91 NCAPD2 0 genome.wustl.edu 37 12 6637024 6637024 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 6637024 6637024 C T SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.2989 p.R997C 1.000 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 tier1 - - 54 0 0.00 42 15 26.32 FCRL4 0 genome.wustl.edu 37 1 157550198 157550198 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 157550198 157550198 C T SNP FCRL4 ENST00000479869 human ensembl 74_37 -1 known rna NULL NULL 0.041 - - - no_errors FCRL4 HGNC ENSG00000163518 tier1 - - 41 0 0.00 44 20 31.25 GOLGB1 0 genome.wustl.edu 37 3 121411130 121411130 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 121411130 121411130 A T SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.7066 p.Y2356N 0.996 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 30 0 0.00 25 12 32.43 GTF3C1 0 genome.wustl.edu 37 16 27503659 27503659 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 27503659 27503659 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.3151 p.G1051S 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 - - 50 0 0.00 36 23 38.98 CAC1E 0 genome.wustl.edu 37 1 181701796 181701796 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 181701796 181701796 G A SNP CAC1E ENST00000367573 human ensembl 74_37 +1 known silent c.2574 p.G858 0.566 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CAC1E HGNC ENSG00000198216 tier1 - - 99 0 0.00 65 49 42.98 DH9 0 genome.wustl.edu 37 17 11795159 11795159 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 11795159 11795159 G A SNP DH9 ENST00000262442 human ensembl 74_37 +1 known silent c.11178 p.R3726 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH9 HGNC ENSG00000007174 tier1 - - 57 0 0.00 47 24 33.33 SP29 0 genome.wustl.edu 37 22 21224624 21224624 + Splice_Site SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 21224624 21224624 G A SNP SP29 ENST00000215730 human ensembl 74_37 +1 known splice_site c.238-1 e2-1 1.000 - - - no_errors SP29 HGNC ENSG00000099940 tier1 - - 39 0 0.00 48 31 39.24 C6orf165 0 genome.wustl.edu 37 6 88128033 88128033 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 88128033 88128033 G A SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.739 p.A247T 0.000 pfam_DUF3508 pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 tier1 - - 88 0 0.00 39 52 57.14 POLRMT 0 genome.wustl.edu 37 19 621793 621793 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 621793 621793 C T SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known silent c.1905 p.A635 0.000 NULL pfam_D-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 tier1 - - 22 0 0.00 14 8 36.36 ZNF623 0 genome.wustl.edu 37 8 144733164 144733164 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 144733164 144733164 C T SNP ZNF623 ENST00000501748 human ensembl 74_37 +1 known silent c.1122 p.L374 0.785 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 tier1 - - 61 0 0.00 59 34 36.56 OR56B4 0 genome.wustl.edu 37 11 6129372 6129372 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 6129372 6129372 C T SNP OR56B4 ENST00000316529 human ensembl 74_37 +1 known missense c.364 p.L122F 0.053 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR56B4 HGNC ENSG00000180919 tier1 - - 22 0 0.00 24 4 14.29 TIE1 0 genome.wustl.edu 37 1 43775167 43775167 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 43775167 43775167 G A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1297 p.G433S 1.000 smart_Ig_sub pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 tier1 - - 78 0 0.00 82 19 18.81 AP2M1 0 genome.wustl.edu 37 3 183897978 183897978 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 183897978 183897978 C T SNP AP2M1 ENST00000292807 human ensembl 74_37 +1 known missense c.362 p.P121L 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC ENSG00000161203 tier1 - - 58 0 0.00 49 21 29.58 ZSCAN29 0 genome.wustl.edu 37 15 43658600 43658600 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 43658600 43658600 C T SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known silent c.930 p.R310 0.938 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 tier1 - - 33 0 0.00 22 11 33.33 AOX1 0 genome.wustl.edu 37 2 201515794 201515794 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 201515794 201515794 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.2945 p.A982V 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 tier1 - - 82 0 0.00 50 43 46.24 OR5T2 0 genome.wustl.edu 37 11 56000263 56000263 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 56000263 56000263 G A SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known silent c.399 p.F133 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 tier1 - - 45 0 0.00 33 18 34.62 TIG 0 genome.wustl.edu 37 6 54185424 54185424 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 54185424 54185424 G A SNP TIG ENST00000259782 human ensembl 74_37 +1 known missense c.403 p.E135K 1.000 NULL pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TIG HGNC ENSG00000137251 tier1 - - 72 0 0.00 77 12 13.33 PDE4DIP 0 genome.wustl.edu 37 1 144882558 144882558 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 144882558 144882558 A G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.3461 p.V1154A 0.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 111 1 0.89 128 21 14.09 RIMBP2 0 genome.wustl.edu 37 12 130926872 130926872 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 130926872 130926872 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.974 p.G325E 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 tier1 - - 92 0 0.00 61 16 20.51 ST3GAL6 0 genome.wustl.edu 37 3 98501056 98501056 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 98501056 98501056 G A SNP ST3GAL6 ENST00000468553 human ensembl 74_37 +1 novel missense c.341 p.R114K 0.001 NULL NULL - no_errors ST3GAL6 HGNC ENSG00000064225 tier1 - - 43 0 0.00 39 18 31.58 CAC1A 0 genome.wustl.edu 37 19 13346467 13346467 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 13346467 13346467 G A SNP CAC1A ENST00000360228 human ensembl 74_37 -1 known silent c.5028 p.T1676 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CAC1A HGNC ENSG00000141837 tier1 - - 53 0 0.00 54 35 39.33 PDGFRB 0 genome.wustl.edu 37 5 149495421 149495421 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 149495421 149495421 G A SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.3226 p.L1076F 0.191 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 tier1 - - 70 0 0.00 80 32 28.57 ALDOB 0 genome.wustl.edu 37 9 104190751 104190751 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 104190751 104190751 C G SNP ALDOB ENST00000374855 human ensembl 74_37 -1 known missense c.379 p.G127R 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ENSG00000136872 tier1 - - 44 0 0.00 32 8 20.00 KIF9-AS1 0 genome.wustl.edu 37 3 47281506 47281506 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 47281506 47281506 C T SNP KIF9-AS1 ENST00000429315 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KIF9-AS1 HGNC ENSG00000227398 tier1 - - 44 0 0.00 37 27 42.19 BPTF 0 genome.wustl.edu 37 17 65940483 65940483 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 65940483 65940483 C T SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.7073 p.A2358V 0.974 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 tier1 - - 33 0 0.00 20 9 31.03 DH8 0 genome.wustl.edu 37 6 38835890 38835890 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 38835890 38835890 G A SNP DH8 ENST00000359357 human ensembl 74_37 +1 known missense c.6095 p.G2032E 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH8 HGNC ENSG00000124721 tier1 - - 115 0 0.00 75 15 16.67 HECW2 0 genome.wustl.edu 37 2 197122601 197122601 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 197122601 197122601 C T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.3365 p.G1122E 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 tier1 - - 61 0 0.00 33 8 19.51 CECR2 0 genome.wustl.edu 37 22 17978523 17978523 + Missense_Mutation SNP C C G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 17978523 17978523 C G SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.421 p.R141G 0.997 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 62 0 0.00 58 27 31.76 BST1 0 genome.wustl.edu 37 4 15716984 15716984 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 15716984 15716984 G A SNP BST1 ENST00000265016 human ensembl 74_37 +1 known missense c.611 p.G204D 1.000 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 tier1 - - 83 0 0.00 61 42 40.78 C4orf21 0 genome.wustl.edu 37 4 113479385 113479385 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 113479385 113479385 G A SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.5041 p.P1681S 0.000 superfamily_P-loop_NTPase pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 rs141009919 - 72 0 0.00 64 27 29.67 PCDHB8 0 genome.wustl.edu 37 5 140558546 140558546 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140558546 140558546 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.931 p.E311K 1.000 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 PCDHB8 HGNC ENSG00000120322 tier1 rs148140727 - 107 1 0.93 113 16 12.40 THRAP3 0 genome.wustl.edu 37 1 36752123 36752123 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 36752123 36752123 C T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known nonsense c.292 p.Q98* 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 tier1 - - 63 0 0.00 59 24 28.92 MYH15 0 genome.wustl.edu 37 3 108107885 108107885 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 108107885 108107885 G A SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.5527 p.R1843C 0.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_D-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 tier1 - - 29 0 0.00 43 25 35.71 C12orf40 0 genome.wustl.edu 37 12 40076480 40076480 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 40076480 40076480 G A SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known missense c.754 p.D252N 0.000 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 tier1 - - 99 0 0.00 93 21 18.42 FMNL1 0 genome.wustl.edu 37 17 43320530 43320530 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 43320530 43320530 C T SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known nonsense c.2056 p.Q686* 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 tier1 - - 59 0 0.00 63 24 27.27 DACT1 0 genome.wustl.edu 37 14 59113234 59113234 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 59113234 59113234 G A SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known silent c.1893 p.G631 0.002 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 tier1 - - 110 0 0.00 49 48 49.48 AGAP2 0 genome.wustl.edu 37 12 58127883 58127883 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 58127883 58127883 C T SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.1475 p.R492H 0.995 pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 tier1 - - 55 0 0.00 33 28 45.90 SCAF8 0 genome.wustl.edu 37 6 155154371 155154371 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 155154371 155154371 G A SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known missense c.3856 p.E1286K 1.000 NULL pfam_R_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 tier1 - - 19 0 0.00 19 9 32.14 PTPN21 0 genome.wustl.edu 37 14 88974314 88974314 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 88974314 88974314 G A SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.401 p.P134L 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,prints_Band_41_fam pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,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 PTPN21 HGNC ENSG00000070778 tier1 - - 25 0 0.00 7 14 66.67 CRHR2 0 genome.wustl.edu 37 7 30728566 30728566 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 30728566 30728566 G A SNP CRHR2 ENST00000462882 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CRHR2 HGNC ENSG00000106113 tier1 - - 34 0 0.00 53 7 11.67 DZIP1L 0 genome.wustl.edu 37 3 137790632 137790632 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 137790632 137790632 G A SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known silent c.1468 p.L490 0.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 tier1 - - 34 0 0.00 22 15 40.54 CAPN11 0 genome.wustl.edu 37 6 44137153 44137153 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 44137153 44137153 G A SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known missense c.224 p.R75K 0.405 smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 tier1 rs190216536 GMAF=0.0005 42 0 0.00 43 13 23.21 LTBP1 0 genome.wustl.edu 37 2 33335687 33335687 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 33335687 33335687 A T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.902 p.H301L 0.990 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 55 0 0.00 57 13 18.57 GLI1 0 genome.wustl.edu 37 12 57859445 57859445 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 57859445 57859445 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.590 p.G197D 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 - - 28 0 0.00 26 22 45.83 NEGR1 0 genome.wustl.edu 37 1 72163699 72163699 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 72163699 72163699 A G SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.659 p.V220A 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 tier1 - - 89 0 0.00 47 37 44.05 DNHD1 0 genome.wustl.edu 37 11 6591239 6591239 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 6591239 6591239 G A SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known nonsense c.12864 p.W4288* 0.999 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SRE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 56 0 0.00 41 21 33.87 C3P1 0 genome.wustl.edu 37 19 10163019 10163019 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 10163019 10163019 G A SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.184 - - - no_errors C3P1 HGNC ENSG00000167798 tier1 - - 42 0 0.00 26 16 38.10 NFAT5 0 genome.wustl.edu 37 16 69726553 69726553 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 69726553 69726553 G T SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.2825 p.G942V 1.000 NULL pfam_RHD,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 tier1 - - 44 0 0.00 46 4 8.00 C14orf93 0 genome.wustl.edu 37 14 23467848 23467848 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 23467848 23467848 C T SNP C14orf93 ENST00000299088 human ensembl 74_37 -1 known missense c.385 p.E129K 1.000 NULL NULL - no_errors C14orf93 HGNC ENSG00000100802 tier1 - - 47 0 0.00 20 8 28.57 GRAMD2 0 genome.wustl.edu 37 15 72456010 72456010 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 72456010 72456010 G A SNP GRAMD2 ENST00000309731 human ensembl 74_37 -1 known missense c.689 p.P230L 0.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 tier1 - - 36 0 0.00 36 7 16.28 DNPEP 0 genome.wustl.edu 37 2 220246114 220246114 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 220246114 220246114 G A SNP DNPEP ENST00000273075 human ensembl 74_37 -1 known silent c.1182 p.N394 0.905 pfam_Peptidase_M18,pfam_Peptidase_M42 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 tier1 - - 35 0 0.00 25 18 40.91 OR1A2 0 genome.wustl.edu 37 17 3101036 3101036 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 3101036 3101036 C T SNP OR1A2 ENST00000381951 human ensembl 74_37 +1 known missense c.224 p.S75F 0.934 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A2 HGNC ENSG00000172150 tier1 - - 53 0 0.00 62 24 27.59 UNC79 0 genome.wustl.edu 37 14 94088139 94088139 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 94088139 94088139 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.4626 p.K1542 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 57 0 0.00 35 27 42.19 CA5BP1 0 genome.wustl.edu 37 X 15721249 15721249 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 15721249 15721249 C T SNP CA5BP1 ENST00000380333 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CA5BP1 HGNC ENSG00000186312 tier1 - - 23 0 0.00 11 39 78.00 LMTK3 0 genome.wustl.edu 37 19 49013395 49013395 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 49013395 49013395 C T SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known silent c.333 p.G111 0.995 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 tier1 - - 72 0 0.00 66 20 22.99 FGF14 0 genome.wustl.edu 37 13 102375268 102375268 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 102375268 102375268 C T SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known silent c.672 p.P224 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 tier1 - - 107 0 0.00 62 9 12.68 C4orf21 0 genome.wustl.edu 37 4 113509018 113509018 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 4 113509018 113509018 C T SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known silent c.3195 p.Q1065 0.000 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 - - 37 0 0.00 47 36 43.37 CLK4 0 genome.wustl.edu 37 5 178039426 178039426 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 178039426 178039426 C T SNP CLK4 ENST00000316308 human ensembl 74_37 -1 known missense c.1042 p.V348I 1.000 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 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 CLK4 HGNC ENSG00000113240 tier1 - - 81 0 0.00 51 27 34.62 SCAP 0 genome.wustl.edu 37 3 47461103 47461103 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 47461103 47461103 G A SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.1655 p.P552L 1.000 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 tier1 - - 51 0 0.00 49 24 32.88 IFRD2 0 genome.wustl.edu 37 3 50329919 50329919 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 50329919 50329919 G A SNP IFRD2 ENST00000336089 human ensembl 74_37 -1 known silent c.339 p.L113 0.011 NULL pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 tier1 - - 109 0 0.00 146 19 11.45 RYR3 0 genome.wustl.edu 37 15 34030743 34030743 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 34030743 34030743 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.7608 p.H2536 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 48 0 0.00 31 10 24.39 KALRN 0 genome.wustl.edu 37 3 124351510 124351510 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 124351510 124351510 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.5420 p.P1807L 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 tier1 - - 43 0 0.00 66 10 13.16 KIAA0513 0 genome.wustl.edu 37 16 85112038 85112038 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 85112038 85112038 C T SNP KIAA0513 ENST00000258180 human ensembl 74_37 +1 known missense c.800 p.P267L 0.997 NULL pfam_SBF2 - no_errors KIAA0513 HGNC ENSG00000135709 tier1 - - 17 0 0.00 4 5 55.56 KIAA1614 0 genome.wustl.edu 37 1 180905047 180905047 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 180905047 180905047 C T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known missense c.2002 p.P668S 0.001 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 tier1 - - 40 0 0.00 47 34 41.98 SP 0 genome.wustl.edu 37 1 46079853 46079853 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 46079853 46079853 G A SNP SP ENST00000402363 human ensembl 74_37 +1 known missense c.1598 p.R533K 1.000 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SP HGNC ENSG00000132780 tier1 - - 81 0 0.00 82 57 41.01 PPP1R9B 0 genome.wustl.edu 37 17 48212145 48212145 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 48212145 48212145 G A SNP PPP1R9B ENST00000501501 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PPP1R9B HGNC ENSG00000108819 tier1 - - 47 0 0.00 37 10 21.28 DISC1 0 genome.wustl.edu 37 1 232144551 232144551 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 232144551 232144551 G A SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known missense c.2063 p.G688E 0.419 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 tier1 - - 19 0 0.00 9 11 55.00 OSBPL3 0 genome.wustl.edu 37 7 24903200 24903200 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 24903200 24903200 G A SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known missense c.692 p.A231V 0.014 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 tier1 - - 43 0 0.00 37 21 36.21 CATSPERD 0 genome.wustl.edu 37 19 5733903 5733903 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 5733903 5733903 G A SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known missense c.313 p.G105S 0.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 tier1 - - 36 0 0.00 29 13 30.95 HLA-DRB1 0 genome.wustl.edu 37 6 32548563 32548563 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 32548563 32548563 G A SNP HLA-DRB1 ENST00000360004 human ensembl 74_37 -1 known silent c.723 p.F241 0.998 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRB1 HGNC ENSG00000196126 tier1 - - 160 0 0.00 160 32 16.67 PRPF8 0 genome.wustl.edu 37 17 1557276 1557276 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 1557276 1557276 G A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known nonsense c.6022 p.R2008* 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snR-bd,pfam_PRO8NT,pfam_Prp8_U5-snR-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 tier1 - - 37 0 0.00 24 6 20.00 DIDO1 0 genome.wustl.edu 37 20 61511108 61511108 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 61511108 61511108 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.6200 p.S2067L 0.002 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 58 0 0.00 63 23 26.74 OR4B1 0 genome.wustl.edu 37 11 48238822 48238822 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 48238822 48238822 C T SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known missense c.461 p.S154F 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4B1 HGNC ENSG00000175619 tier1 - - 57 0 0.00 50 20 28.17 MUC4 0 genome.wustl.edu 37 3 195513170 195513170 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 195513170 195513170 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.5281 p.L1761F 0.002 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 - - 283 0 0.00 353 71 16.71 EFTUD2 0 genome.wustl.edu 37 17 42937396 42937396 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 42937396 42937396 G A SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known silent c.1737 p.P579 0.951 NULL 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 tier1 - - 35 0 0.00 57 28 32.94 PASD1 0 genome.wustl.edu 37 X 150842501 150842501 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 150842501 150842501 C T SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.2018 p.P673L 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 tier1 - - 25 0 0.00 12 26 68.42 LILRB4 0 genome.wustl.edu 37 19 55179409 55179409 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 55179409 55179409 C T SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known missense c.1286 p.P429L 0.000 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 tier1 - - 95 0 0.00 101 13 11.40 STAB1 0 genome.wustl.edu 37 3 52557974 52557974 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 52557974 52557974 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.7483 p.G2495R 0.505 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 29 0 0.00 35 11 23.91 RYR2 0 genome.wustl.edu 37 1 237813397 237813397 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 237813397 237813397 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.7727 p.G2576E 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 59 0 0.00 64 10 13.51 EYS 0 genome.wustl.edu 37 6 65327426 65327426 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 65327426 65327426 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.3569 p.G1190E 0.281 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 87 0 0.00 66 12 15.38 SERPING1 0 genome.wustl.edu 37 11 57381830 57381830 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 57381830 57381830 C T SNP SERPING1 ENST00000278407 human ensembl 74_37 +1 known silent c.1279 p.L427 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPING1 HGNC ENSG00000149131 tier1 - - 42 0 0.00 38 17 30.91 SH2D4B 0 genome.wustl.edu 37 10 82405963 82405963 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 82405963 82405963 G A SNP SH2D4B ENST00000372150 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SH2D4B HGNC ENSG00000178217 tier1 - - 66 0 0.00 63 9 12.50 LENEP 0 genome.wustl.edu 37 1 154966129 154966129 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 154966129 154966129 C T SNP LENEP ENST00000368427 human ensembl 74_37 +1 known missense c.46 p.L16F 0.838 NULL NULL - no_errors LENEP HGNC ENSG00000163352 tier1 - - 78 0 0.00 80 66 44.90 TRAIP 0 genome.wustl.edu 37 3 49869411 49869411 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 49869411 49869411 G A SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known silent c.975 p.P325 0.011 NULL pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 tier1 - - 31 0 0.00 31 15 32.61 OR5D18 0 genome.wustl.edu 37 11 55587671 55587671 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 55587671 55587671 C T SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known missense c.566 p.S189F 0.430 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 tier1 - - 51 0 0.00 38 15 28.30 ZNF287 0 genome.wustl.edu 37 17 16470890 16470890 + Silent SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 16470890 16470890 A G SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known silent c.156 p.F52 0.997 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 tier1 - - 53 0 0.00 50 14 21.88 CGRRF1 0 genome.wustl.edu 37 14 55004467 55004467 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 55004467 55004467 C T SNP CGRRF1 ENST00000216420 human ensembl 74_37 +1 known missense c.598 p.P200S 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors CGRRF1 HGNC ENSG00000100532 tier1 - - 59 0 0.00 23 8 25.81 KRBA1 0 genome.wustl.edu 37 7 149425632 149425632 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 149425632 149425632 C T SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.1493 p.S498F 1.000 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 tier1 - - 59 0 0.00 58 8 12.12 OR2Z1 0 genome.wustl.edu 37 19 8842041 8842041 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 8842041 8842041 C T SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known silent c.651 p.S217 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 tier1 - - 27 0 0.00 31 11 26.19 TJP2 0 genome.wustl.edu 37 9 71844120 71844120 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 71844120 71844120 C T SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.1567 p.P523S 0.896 superfamily_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 tier1 - - 163 0 0.00 86 60 40.82 LRRC56 0 genome.wustl.edu 37 11 540690 540690 + Missense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 540690 540690 T A SNP LRRC56 ENST00000270115 human ensembl 74_37 +1 known missense c.6 p.D2E 0.189 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 tier1 - - 39 0 0.00 47 38 44.71 SLC15A5 0 genome.wustl.edu 37 12 16377443 16377443 + Nonsense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 16377443 16377443 G T SNP SLC15A5 ENST00000344941 human ensembl 74_37 -1 novel nonsense c.1256 p.S419* 0.958 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC ENSG00000188991 tier1 - - 51 0 0.00 40 32 44.44 RSE10 0 genome.wustl.edu 37 14 20978976 20978976 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 14 20978976 20978976 G A SNP RSE10 ENST00000328444 human ensembl 74_37 +1 known missense c.346 p.D116N 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RSE10 HGNC ENSG00000182545 tier1 - - 18 0 0.00 28 9 24.32 TENM1 0 genome.wustl.edu 37 X 123699273 123699273 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 123699273 123699273 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.2215 p.G739R 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 32 0 0.00 9 29 76.32 ITGBL1 0 genome.wustl.edu 37 13 102227890 102227890 + Missense_Mutation SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 102227890 102227890 A G SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known missense c.579 p.I193M 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 tier1 - - 100 0 0.00 68 29 29.90 CLCA3P 0 genome.wustl.edu 37 1 87113082 87113082 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 87113082 87113082 C T SNP CLCA3P ENST00000284054 human ensembl 74_37 +1 known rna NULL NULL 0.431 - - - no_errors CLCA3P HGNC ENSG00000153923 tier1 - - 113 0 0.00 89 42 31.82 CEP70 0 genome.wustl.edu 37 3 138219583 138219583 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 138219583 138219583 C T SNP CEP70 ENST00000264982 human ensembl 74_37 -1 known silent c.1362 p.K454 0.981 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC ENSG00000114107 tier1 - - 23 0 0.00 27 17 38.64 CSMD3 0 genome.wustl.edu 37 8 113358374 113358374 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 113358374 113358374 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6394 p.P2132S 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 CSMD3 HGNC ENSG00000164796 tier1 - - 48 0 0.00 50 16 24.24 CCDC125 0 genome.wustl.edu 37 5 68578736 68578736 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 68578736 68578736 G A SNP CCDC125 ENST00000396496 human ensembl 74_37 -1 known silent c.1356 p.F452 0.000 NULL NULL - no_errors CCDC125 HGNC ENSG00000183323 tier1 - - 56 0 0.00 65 29 30.53 CCKBR 0 genome.wustl.edu 37 11 6291073 6291073 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 6291073 6291073 C T SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.326 p.P109L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 - - 21 0 0.00 13 11 45.83 ZNF277 0 genome.wustl.edu 37 7 111927053 111927053 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 111927053 111927053 G A SNP ZNF277 ENST00000361822 human ensembl 74_37 +1 known missense c.217 p.D73N 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF277 HGNC ENSG00000198839 tier1 - - 73 0 0.00 56 21 27.27 SHBG 0 genome.wustl.edu 37 17 7533563 7533563 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 7533563 7533563 C T SNP SHBG ENST00000380450 human ensembl 74_37 +1 known missense c.73 p.R25C 0.001 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors SHBG HGNC ENSG00000129214 tier1 - - 22 0 0.00 33 17 34.00 SLC12A8 0 genome.wustl.edu 37 3 124839624 124839624 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 124839624 124839624 C T SNP SLC12A8 ENST00000430155 human ensembl 74_37 -1 known missense c.46 p.G16R 0.652 NULL pfam_AA-permease/SLC12A_dom,superfamily_ABC1_TM_dom - no_errors SLC12A8 HGNC ENSG00000221955 tier1 - - 48 0 0.00 55 23 29.49 SVEP1 0 genome.wustl.edu 37 9 113244719 113244719 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 113244719 113244719 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.2092 p.G698R 0.999 pfam_Hyalin,pfscan_Hyalin pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 51 0 0.00 64 30 31.91 HRNR 0 genome.wustl.edu 37 1 152185643 152185643 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 152185643 152185643 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.8462 p.G2821E 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 67 0 0.00 89 20 18.35 TCEAL5 0 genome.wustl.edu 37 X 102529111 102529111 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 102529111 102529111 G A SNP TCEAL5 ENST00000372680 human ensembl 74_37 -1 known silent c.381 p.S127 0.004 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL5 HGNC ENSG00000204065 tier1 - - 45 0 0.00 15 38 71.70 ZBBX 0 genome.wustl.edu 37 3 167068246 167068246 + Nonsense_Mutation SNP T T A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 167068246 167068246 T A SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known nonsense c.490 p.K164* 1.000 pfam_Znf_B-box pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 tier1 - - 97 0 0.00 90 48 34.78 WNT2 0 genome.wustl.edu 37 7 116918431 116918431 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 116918431 116918431 C T SNP WNT2 ENST00000265441 human ensembl 74_37 -1 known silent c.861 p.L287 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 tier1 - - 18 0 0.00 19 9 32.14 SNHG1 0 genome.wustl.edu 37 11 62622959 62622959 + R SNP A A G TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 62622959 62622959 A G SNP SNHG1 ENST00000537925 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG1 HGNC ENSG00000255717 tier1 - - 25 0 0.00 16 11 40.74 KCNK7 0 genome.wustl.edu 37 11 65363171 65363171 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 65363171 65363171 C T SNP KCNK7 ENST00000340313 human ensembl 74_37 -1 known missense c.73 p.A25T 1.000 pirsf_2pore_dom_K_chnl_TASK pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 tier1 - - 9 0 0.00 9 9 50.00 TACC2 0 genome.wustl.edu 37 10 123996963 123996963 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 123996963 123996963 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.8181 p.S2727 1.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 - - 58 0 0.00 47 10 17.54 ZNF600 0 genome.wustl.edu 37 19 53270681 53270681 + Missense_Mutation SNP G G T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 53270681 53270681 G T SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.328 p.Q110K 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 tier1 - - 84 0 0.00 58 39 40.21 LOC100287792 0 genome.wustl.edu 37 20 36306734 36306734 + R SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 20 36306734 36306734 C T SNP LOC100287792 ENST00000373508 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors RP4-640H8.2 Clone_based_vega_gene ENSG00000204117 tier1 - - 22 0 0.00 15 8 34.78 AHCTF1 0 genome.wustl.edu 37 1 247014708 247014708 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 247014708 247014708 C T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.4627 p.G1543R 0.985 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 95 0 0.00 109 28 20.44 ZBTB11 0 genome.wustl.edu 37 3 101375072 101375072 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 3 101375072 101375072 G A SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known silent c.2067 p.I689 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 tier1 - - 94 0 0.00 71 22 23.66 CDHR1 0 genome.wustl.edu 37 10 85978855 85978855 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 85978855 85978855 G A SNP CDHR1 ENST00000332904 human ensembl 74_37 +1 known missense c.2061 p.M687I 0.000 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 tier1 - - 73 0 0.00 80 20 20.00 TTC40 0 genome.wustl.edu 37 10 134751129 134751129 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 10 134751129 134751129 C T SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.587 p.R196K 0.093 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 37 0 0.00 27 24 47.06 M1AP 0 genome.wustl.edu 37 2 74808946 74808946 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 74808946 74808946 G A SNP M1AP ENST00000422394 human ensembl 74_37 -1 known missense c.455 p.T152I 0.997 NULL NULL - no_errors M1AP HGNC ENSG00000159374 tier1 - - 61 0 0.00 63 36 36.36 SAMD9 0 genome.wustl.edu 37 7 92734957 92734957 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 92734957 92734957 C T SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.454 p.E152K 0.002 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 - - 67 0 0.00 46 41 46.59 COL11A2 0 genome.wustl.edu 37 6 33144520 33144520 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 33144520 33144520 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.2093 p.P698L 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 71 0 0.00 70 31 30.69 PTPN7 0 genome.wustl.edu 37 1 202127347 202127347 + Nonsense_Mutation SNP C C A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 202127347 202127347 C A SNP PTPN7 ENST00000309017 human ensembl 74_37 -1 known nonsense c.520 p.E174* 1.000 prints_Tyr_Pase_KIM-con pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 tier1 - - 83 0 0.00 76 52 40.31 NCR3LG1 0 genome.wustl.edu 37 11 17378328 17378328 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 17378328 17378328 G A SNP NCR3LG1 ENST00000530403 human ensembl 74_37 +1 known nonsense c.201 p.W67* 0.001 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_G_retro_matrix_N,pfam_CD80_C2-set,superfamily_Retrovr_matrix_N,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors NCR3LG1 HGNC ENSG00000188211 tier1 - - 78 0 0.00 106 19 14.96 KIAA1984 0 genome.wustl.edu 37 9 139701265 139701265 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 139701265 139701265 G A SNP KIAA1984 ENST00000338005 human ensembl 74_37 +1 known silent c.1335 p.E445 0.524 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 tier1 - - 51 0 0.00 40 26 39.39 MYO1F 0 genome.wustl.edu 37 19 8586453 8586453 + Nonsense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 8586453 8586453 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known nonsense c.3256 p.Q1086* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 tier1 - - 89 0 0.00 115 35 23.33 TG 0 genome.wustl.edu 37 8 133923744 133923744 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 133923744 133923744 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.4125 p.I1375 0.026 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 52 0 0.00 73 26 26.26 RASGEF1C 0 genome.wustl.edu 37 5 179564927 179564927 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 179564927 179564927 G A SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known silent c.126 p.S42 0.996 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 tier1 - - 39 0 0.00 26 21 44.68 CATSPER2P1 0 genome.wustl.edu 37 15 44036389 44036389 + R SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 15 44036389 44036389 G A SNP CATSPER2P1 ENST00000429276 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 tier1 - - 92 0 0.00 26 30 53.57 OR2G6 0 genome.wustl.edu 37 1 248685894 248685894 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 248685894 248685894 A T SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.947 p.D316V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 tier1 - - 94 0 0.00 93 28 22.95 MFAP3 0 genome.wustl.edu 37 5 153433060 153433060 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 153433060 153433060 G A SNP MFAP3 ENST00000322602 human ensembl 74_37 +1 known silent c.876 p.R292 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3 HGNC ENSG00000037749 tier1 - - 42 0 0.00 52 14 21.21 FGD3 0 genome.wustl.edu 37 9 95797779 95797779 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 95797779 95797779 G A SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.2086 p.E696K 0.621 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 tier1 - - 40 0 0.00 42 22 34.38 DLGAP2 0 genome.wustl.edu 37 8 1497302 1497302 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 1497302 1497302 G A SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.443 p.R148Q 0.991 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 tier1 - - 11 0 0.00 9 8 47.06 TP53 0 genome.wustl.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 17 7577082 7577082 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.856 p.E286K 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 29 0 0.00 20 21 51.22 PROM2 0 genome.wustl.edu 37 2 95940496 95940496 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 2 95940496 95940496 C T SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known missense c.163 p.R55C 0.037 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 tier1 - - 10 0 0.00 21 8 27.59 PLEC 0 genome.wustl.edu 37 8 144991329 144991329 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 144991329 144991329 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.13071 p.D4357 1.000 NULL 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 - - 19 0 0.00 18 4 18.18 PCDHB12 0 genome.wustl.edu 37 5 140590363 140590363 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 140590363 140590363 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1884 p.R628 0.082 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 PCDHB12 HGNC ENSG00000120328 tier1 - - 54 0 0.00 64 12 15.79 ABCA13 0 genome.wustl.edu 37 7 48414002 48414002 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 48414002 48414002 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.11192 p.G3731E 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 65 0 0.00 79 10 11.24 OGT 0 genome.wustl.edu 37 X 70787568 70787568 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 X 70787568 70787568 C T SNP OGT ENST00000373719 human ensembl 74_37 +1 known silent c.2808 p.V936 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 tier1 - - 20 0 0.00 16 17 51.52 PGM1 0 genome.wustl.edu 37 1 64095223 64095223 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 64095223 64095223 G A SNP PGM1 ENST00000371083 human ensembl 74_37 +1 known missense c.428 p.G143E 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 tier1 - - 60 0 0.00 65 29 30.85 SPATC1L 0 genome.wustl.edu 37 21 47588307 47588307 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 21 47588307 47588307 C T SNP SPATC1L ENST00000291672 human ensembl 74_37 -1 known silent c.459 p.R153 1.000 NULL NULL - no_errors SPATC1L HGNC ENSG00000160284 tier1 - - 53 0 0.00 47 23 32.86 MEF2B 0 genome.wustl.edu 37 19 19257570 19257570 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 19257570 19257570 C T SNP MEF2B ENST00000162023 human ensembl 74_37 -1 known missense c.656 p.R219Q 0.631 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2B HGNC ENSG00000213999 tier1 - - 14 0 0.00 7 10 58.82 CD101 0 genome.wustl.edu 37 1 117556218 117556218 + Missense_Mutation SNP A A T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 117556218 117556218 A T SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.1032 p.R344S 0.754 smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 tier1 - - 35 0 0.00 52 9 14.75 ABCC8 0 genome.wustl.edu 37 11 17483346 17483346 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 17483346 17483346 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.606 p.R202 0.028 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 71 0 0.00 59 39 39.80 NBEA 0 genome.wustl.edu 37 13 36223811 36223811 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 36223811 36223811 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.7727 p.P2576L 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 56 0 0.00 41 9 18.00 SEPT5 0 genome.wustl.edu 37 22 19707965 19707965 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 22 19707965 19707965 C T SNP SEPT5 ENST00000383045 human ensembl 74_37 +1 known missense c.512 p.P171L 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT5 HGNC ENSG00000184702 tier1 - - 51 0 0.00 61 28 31.46 VWA7 0 genome.wustl.edu 37 6 31735445 31735445 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 31735445 31735445 G A SNP VWA7 ENST00000375686 human ensembl 74_37 -1 known silent c.1590 p.V530 0.135 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 tier1 - - 35 0 0.00 31 7 18.42 ZNF862 0 genome.wustl.edu 37 7 149558298 149558298 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 7 149558298 149558298 C T SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known silent c.2049 p.I683 1.000 superfamily_RNaseH-like_dom pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 tier1 - - 46 0 0.00 45 20 30.77 ASXL3 0 genome.wustl.edu 37 18 31323276 31323276 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 18 31323276 31323276 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3464 p.S1155L 0.995 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 31 0 0.00 11 18 62.07 DBH 0 genome.wustl.edu 37 9 136507497 136507497 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 9 136507497 136507497 C T SNP DBH ENST00000393056 human ensembl 74_37 +1 known missense c.655 p.P219S 0.988 pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors DBH HGNC ENSG00000123454 tier1 - - 86 0 0.00 108 39 26.53 TMC7 0 genome.wustl.edu 37 16 19049227 19049227 + Missense_Mutation SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 16 19049227 19049227 A C SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known missense c.1037 p.K346T 1.000 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 tier1 - - 55 0 0.00 56 18 24.32 MLXIP 0 genome.wustl.edu 37 12 122617972 122617972 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 12 122617972 122617972 C T SNP MLXIP ENST00000319080 human ensembl 74_37 +1 known silent c.1170 p.S390 0.545 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 tier1 - - 81 0 0.00 70 16 18.60 NPHS2 0 genome.wustl.edu 37 1 179533899 179533899 + Missense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 179533899 179533899 C T SNP NPHS2 ENST00000367615 human ensembl 74_37 -1 known missense c.304 p.E102K 1.000 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 tier1 - - 63 0 0.00 74 39 34.21 MUC5B 0 genome.wustl.edu 37 11 1264738 1264738 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 11 1264738 1264738 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.6637 p.V2213M 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 - - 68 0 0.00 68 22 24.44 CHI3L2 0 genome.wustl.edu 37 1 111778738 111778738 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 111778738 111778738 G A SNP CHI3L2 ENST00000369748 human ensembl 74_37 +1 known missense c.698 p.G233E 0.994 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L2 HGNC ENSG00000064886 tier1 - - 49 0 0.00 47 27 36.00 VCAN 0 genome.wustl.edu 37 5 82789387 82789387 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 5 82789387 82789387 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.468 p.A156 0.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 rs142013663 - 73 0 0.00 67 21 23.86 KIAA1244 0 genome.wustl.edu 37 6 138531092 138531092 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 6 138531092 138531092 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.265 p.D89N 0.998 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 74 0 0.00 61 27 30.68 LRRC41 0 genome.wustl.edu 37 1 46744895 46744895 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 1 46744895 46744895 G A SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known silent c.2178 p.F726 0.894 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 tier1 - - 29 0 0.00 51 25 32.89 TEX29 0 genome.wustl.edu 37 13 111995198 111995198 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 13 111995198 111995198 G A SNP TEX29 ENST00000283547 human ensembl 74_37 +1 known missense c.335 p.S112N 0.000 NULL NULL - no_errors TEX29 HGNC ENSG00000153495 tier1 - - 70 0 0.00 36 8 18.18 MIR2053 0 genome.wustl.edu 37 8 113655780 113655780 + R SNP A A C TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 8 113655780 113655780 A C SNP MIR2053 ENST00000459295 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR2053 HGNC ENSG00000238399 tier1 - - 102 0 0.00 90 46 33.82 NLRP13 0 genome.wustl.edu 37 19 56443432 56443432 + Nonsense_Mutation SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 fe0d50c5-33b2-4e05-b833-13a1f919cc85 02ddd768-a8f5-4d78-9327-e0664a10a269 19 56443432 56443432 C T SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known nonsense c.246 p.W82* 0.013 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 tier1 - - 57 0 0.00 65 15 18.75