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 TAS2R38 0 genome.wustl.edu 37 7 141673292 141673292 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 141673292 141673292 G A SNP TAS2R38 ENST00000547270 human ensembl 74_37 -1 known silent c.198 p.F66 0.912 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R38 HGNC ENSG00000257138 tier1 - - 34 0 0.00 42 9 17.65 NCSTN 0 genome.wustl.edu 37 1 160326887 160326887 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 160326887 160326887 C T SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known silent c.1851 p.L617 0.872 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 tier1 - - 68 0 0.00 67 13 16.25 FGFR3 0 genome.wustl.edu 37 4 1806225 1806225 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 1806225 1806225 C T SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known missense c.1250 p.S417F 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 FGFR3 HGNC ENSG00000068078 tier1 - - 72 0 0.00 75 14 15.56 IGF1 0 genome.wustl.edu 37 12 102796307 102796307 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 102796307 102796307 C T SNP IGF1 ENST00000337514 human ensembl 74_37 -1 known missense c.440 p.G147E 1.000 NULL pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF-I,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF1 HGNC ENSG00000017427 tier1 - - 35 0 0.00 39 11 22.00 PLIN4 0 genome.wustl.edu 37 19 4512775 4512775 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 4512775 4512775 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel silent c.1155 p.T385 0.176 superfamily_Ankyrin_rpt-contain_dom pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 tier1 - - 73 0 0.00 80 17 17.53 DH10 0 genome.wustl.edu 37 12 124343772 124343772 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 124343772 124343772 G A SNP DH10 ENST00000409039 human ensembl 74_37 +1 known missense c.6352 p.G2118S 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 - - 52 0 0.00 55 10 15.15 TSEN2 0 genome.wustl.edu 37 3 12571292 12571292 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 12571292 12571292 C T SNP TSEN2 ENST00000284995 human ensembl 74_37 +1 known missense c.1168 p.H390Y 0.000 pfam_tR_intron_Endonuc_cat-like,superfamily_tR_intron_Endonuc_cat-like,pirsf_tR_splic_SEN2 pfam_tR_intron_Endonuc_cat-like,pfam_tR_intron_Endonuc_N,superfamily_tR_intron_Endonuc_cat-like,pirsf_tR_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 tier1 - - 44 0 0.00 68 10 12.82 C2orf76 0 genome.wustl.edu 37 2 120097419 120097419 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 120097419 120097419 G A SNP C2orf76 ENST00000334816 human ensembl 74_37 -1 known silent c.117 p.I39 0.997 pfam_UPF0538 pfam_UPF0538 - no_errors C2orf76 HGNC ENSG00000186132 tier1 - - 56 0 0.00 64 13 16.88 CA5BP1 0 genome.wustl.edu 37 X 15721141 15721141 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 15721141 15721141 C T SNP CA5BP1 ENST00000380333 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CA5BP1 HGNC ENSG00000186312 tier1 - - 32 0 0.00 36 19 34.55 IQCE 0 genome.wustl.edu 37 7 2627481 2627481 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 2627481 2627481 G A SNP IQCE ENST00000402050 human ensembl 74_37 +1 known silent c.1014 p.R338 1.000 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 IQCE HGNC ENSG00000106012 tier1 - - 86 0 0.00 99 22 18.18 CCDC144A 0 genome.wustl.edu 37 17 16638166 16638166 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 16638166 16638166 G A SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known missense c.2581 p.D861N 0.986 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 tier1 - - 32 0 0.00 39 8 16.67 SPEN 0 genome.wustl.edu 37 1 16260291 16260291 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 16260291 16260291 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.7556 p.P2519L 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 - - 34 0 0.00 44 8 15.38 NPIPA1 0 genome.wustl.edu 37 16 15018437 15018437 + R SNP C C A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 15018437 15018437 C A SNP NPIPA1 ENST00000472413 human ensembl 74_37 +1 known rna NULL NULL 0.374 - - - no_errors NPIPA1 HGNC ENSG00000183426 tier1 - - 211 0 0.00 257 35 11.99 ITK 0 genome.wustl.edu 37 5 156668658 156668658 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 156668658 156668658 C T SNP ITK ENST00000422843 human ensembl 74_37 +1 known silent c.988 p.L330 1.000 pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 63 0 0.00 67 6 8.22 TEC 0 genome.wustl.edu 37 4 48230594 48230594 + Missense_Mutation SNP T T C TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 48230594 48230594 T C SNP TEC ENST00000381501 human ensembl 74_37 -1 known missense c.38 p.K13R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors TEC HGNC ENSG00000135605 tier1 - - 60 0 0.00 64 16 20.00 DH12 0 genome.wustl.edu 37 3 57443834 57443834 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 57443834 57443834 G A SNP DH12 ENST00000351747 human ensembl 74_37 -1 known silent c.2976 p.F992 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 DH12 HGNC ENSG00000174844 tier1 - - 46 0 0.00 52 12 18.75 CNTFR 0 genome.wustl.edu 37 9 34552181 34552181 + Missense_Mutation SNP T T G TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 34552181 34552181 T G SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known missense c.1096 p.T366P 0.544 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 tier1 - - 18 0 0.00 23 14 37.84 LRRC3 0 genome.wustl.edu 37 21 45877037 45877037 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 21 45877037 45877037 C T SNP LRRC3 ENST00000291592 human ensembl 74_37 +1 known silent c.510 p.I170 0.550 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC ENSG00000160233 tier1 - - 48 0 0.00 44 21 31.82 CREBRF 0 genome.wustl.edu 37 5 172537591 172537591 + Missense_Mutation SNP T T C TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 172537591 172537591 T C SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known missense c.1490 p.L497P 0.998 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 tier1 - - 29 0 0.00 26 8 23.53 OPALIN 0 genome.wustl.edu 37 10 98105735 98105735 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 98105735 98105735 C T SNP OPALIN ENST00000371172 human ensembl 74_37 -1 known missense c.389 p.G130E 0.016 NULL NULL - no_errors OPALIN HGNC ENSG00000197430 tier1 - - 53 0 0.00 74 19 20.43 SPATA17 0 genome.wustl.edu 37 1 217955540 217955540 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 217955540 217955540 G A SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known missense c.748 p.V250I 1.000 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 SPATA17 HGNC ENSG00000162814 tier1 - - 43 0 0.00 38 12 24.00 TACC2 0 genome.wustl.edu 37 10 124008163 124008163 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 124008163 124008163 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.8398 p.E2800K 0.997 pfam_TACC pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 - - 37 0 0.00 43 21 32.81 CTNND2 0 genome.wustl.edu 37 5 11023048 11023048 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 11023048 11023048 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.2832 p.G944 0.971 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 74 0 0.00 99 13 11.61 URAHP 0 genome.wustl.edu 37 16 90113551 90113551 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 90113551 90113551 C T SNP URAHP ENST00000521551 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors URAHP HGNC ENSG00000222019 tier1 - - 79 0 0.00 77 17 17.89 LRP1B 0 genome.wustl.edu 37 2 141359181 141359181 + Missense_Mutation SNP T T C TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 141359181 141359181 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.6827 p.Y2276C 1.000 smart_LDLR_classB_rpt 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 - - 54 0 0.00 55 19 25.68 DYM 0 genome.wustl.edu 37 18 46645158 46645158 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 18 46645158 46645158 G A SNP DYM ENST00000269445 human ensembl 74_37 -1 known nonsense c.1702 p.R568* 1.000 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 tier1 - - 66 0 0.00 61 18 22.78 ACAN 0 genome.wustl.edu 37 15 89382065 89382065 + Missense_Mutation SNP A A T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 89382065 89382065 A T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.242 p.E81V 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_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 ACAN HGNC ENSG00000157766 tier1 - - 51 0 0.00 29 13 30.95 ZNF560 0 genome.wustl.edu 37 19 9581134 9581134 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 9581134 9581134 C T SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.382 p.D128N 0.004 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 ZNF560 HGNC ENSG00000198028 tier1 - - 53 0 0.00 55 14 20.29 FOXI1 0 genome.wustl.edu 37 5 169533045 169533045 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 169533045 169533045 G A SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known missense c.84 p.M28I 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 tier1 - - 82 0 0.00 93 9 8.82 CCDC144A 0 genome.wustl.edu 37 17 16593774 16593774 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 16593774 16593774 C T SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known silent c.60 p.V20 0.006 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 tier1 - - 91 0 0.00 109 13 10.66 KIT 0 genome.wustl.edu 37 4 55589796 55589796 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 55589796 55589796 C T SNP KIT ENST00000288135 human ensembl 74_37 +1 known silent c.1278 p.L426 0.654 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 KIT HGNC ENSG00000157404 tier1 - - 95 0 0.00 102 20 16.39 LPHN2 0 genome.wustl.edu 37 1 82372860 82372860 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 82372860 82372860 C T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known nonsense c.232 p.Q78* 1.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom 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,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 44 0 0.00 66 10 12.99 ADH6 0 genome.wustl.edu 37 4 100129805 100129805 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 100129805 100129805 C T SNP ADH6 ENST00000504257 human ensembl 74_37 -1 putative rna NULL NULL 0.032 - - - no_errors ADH6 HGNC ENSG00000172955 tier1 - - 40 0 0.00 52 12 18.75 SPATA31A6 0 genome.wustl.edu 37 9 43626627 43626627 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 43626627 43626627 C T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.2060 p.R687Q 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 144 0 0.00 186 33 15.07 KMT2A 0 genome.wustl.edu 37 11 118348798 118348798 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 118348798 118348798 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known nonsense c.3451 p.R1151* 1.000 pfam_Znf_CXXC,pirsf_MeTrfase_trithorax,pfscan_Znf_CXXC pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 56 0 0.00 48 8 14.29 DSC3 0 genome.wustl.edu 37 18 28588263 28588263 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 18 28588263 28588263 G A SNP DSC3 ENST00000360428 human ensembl 74_37 -1 known missense c.1492 p.P498S 1.000 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,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 tier1 - - 54 0 0.00 56 17 23.29 SH2D4B 0 genome.wustl.edu 37 10 82298269 82298269 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 82298269 82298269 G A SNP SH2D4B ENST00000470604 human ensembl 74_37 +1 known missense c.182 p.R61Q 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2D4B HGNC ENSG00000178217 tier1 - - 45 0 0.00 67 11 14.10 DOCK2 0 genome.wustl.edu 37 5 169508871 169508871 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 169508871 169508871 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.5313 p.I1771 0.000 NULL 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 - - 79 0 0.00 64 14 17.95 CHRDL2 0 genome.wustl.edu 37 11 74413853 74413853 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 74413853 74413853 C T SNP CHRDL2 ENST00000263671 human ensembl 74_37 -1 known nonsense c.1106 p.W369* 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL2 HGNC ENSG00000054938 tier1 - - 41 0 0.00 55 9 14.06 EPHA2 0 genome.wustl.edu 37 1 16456750 16456750 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 16456750 16456750 G A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known silent c.2640 p.S880 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom 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_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 tier1 - - 86 0 0.00 91 12 11.65 SNORD116-20 0 genome.wustl.edu 37 15 25332918 25332918 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 25332918 25332918 G A SNP SNORD116-20 ENST00000567527 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-20 HGNC ENSG00000261069 tier1 - - 59 0 0.00 62 14 17.95 NLRP2 0 genome.wustl.edu 37 19 55501975 55501975 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 55501975 55501975 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.2643 p.G881 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP2 HGNC ENSG00000022556 tier1 - - 58 0 0.00 56 9 13.85 C6orf89 0 genome.wustl.edu 37 6 36882452 36882452 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 36882452 36882452 C T SNP C6orf89 ENST00000355190 human ensembl 74_37 +1 known silent c.699 p.F233 1.000 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 tier1 - - 41 0 0.00 34 10 22.73 SH2D6 0 genome.wustl.edu 37 2 85662200 85662200 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 85662200 85662200 C T SNP SH2D6 ENST00000340326 human ensembl 74_37 +1 known missense c.122 p.S41L 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D6 HGNC ENSG00000152292 tier1 - - 74 0 0.00 70 17 19.10 ITIH1 0 genome.wustl.edu 37 3 52820317 52820317 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 52820317 52820317 C T SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known nonsense c.1600 p.Q534* 0.997 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 - - 34 0 0.00 38 11 22.45 C8orf34 0 genome.wustl.edu 37 8 69552622 69552622 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 69552622 69552622 G A SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.1117 p.D373N 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 60 0 0.00 70 15 17.65 KCNK5 0 genome.wustl.edu 37 6 39159187 39159187 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 39159187 39159187 G A SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known silent c.979 p.L327 0.058 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 tier1 - - 34 0 0.00 30 11 26.83 MYH7 0 genome.wustl.edu 37 14 23899003 23899003 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 23899003 23899003 C T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.1119 p.A373 0.106 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,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 MYH7 HGNC ENSG00000092054 tier1 - - 51 0 0.00 60 17 22.08 TRPC6 0 genome.wustl.edu 37 11 101359678 101359678 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 101359678 101359678 G A SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.1283 p.P428L 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,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 - - 39 0 0.00 39 14 26.42 CAC1G 0 genome.wustl.edu 37 17 48695414 48695414 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 48695414 48695414 G A SNP CAC1G ENST00000359106 human ensembl 74_37 +1 known silent c.5232 p.G1744 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 CAC1G HGNC ENSG00000006283 tier1 - - 47 0 0.00 45 13 22.41 STK33 0 genome.wustl.edu 37 11 8457588 8457588 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 8457588 8457588 G A SNP STK33 ENST00000315204 human ensembl 74_37 -1 known missense c.1046 p.S349F 0.227 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 STK33 HGNC ENSG00000130413 tier1 - - 43 0 0.00 86 23 21.10 CAC1S 0 genome.wustl.edu 37 1 201020239 201020239 + Missense_Mutation SNP A A T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 201020239 201020239 A T SNP CAC1S ENST00000362061 human ensembl 74_37 -1 known missense c.3986 p.L1329Q 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel 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 - - 46 0 0.00 35 9 20.45 LRRFIP1 0 genome.wustl.edu 37 2 238668788 238668788 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 238668788 238668788 C T SNP LRRFIP1 ENST00000392000 human ensembl 74_37 +1 known missense c.829 p.P277S 0.000 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC ENSG00000124831 tier1 - - 62 0 0.00 70 12 14.63 PSG9 0 genome.wustl.edu 37 19 43762226 43762226 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 43762226 43762226 G A SNP PSG9 ENST00000244293 human ensembl 74_37 -1 putative silent c.1092 p.L364 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG9 HGNC ENSG00000183668 tier1 - - 106 0 0.00 120 28 18.92 ZNF804A 0 genome.wustl.edu 37 2 185803113 185803113 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 185803113 185803113 G A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2990 p.G997E 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 31 0 0.00 38 6 13.64 TCF4 0 genome.wustl.edu 37 18 52921843 52921843 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 18 52921843 52921843 G A SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known missense c.1541 p.P514L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 tier1 - - 37 0 0.00 46 5 9.80 CCDC113 0 genome.wustl.edu 37 16 58312541 58312541 + Missense_Mutation SNP G G T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 58312541 58312541 G T SNP CCDC113 ENST00000219299 human ensembl 74_37 +1 known missense c.1047 p.E349D 1.000 NULL NULL - no_errors CCDC113 HGNC ENSG00000103021 tier1 - - 17 0 0.00 36 9 20.00 ENSG00000257057 0 genome.wustl.edu 37 11 94265128 94265128 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 94265128 94265128 G A SNP ENSG00000257057 ENST00000542198 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors RP11-867G2.2 Clone_based_vega_gene ENSG00000257057 tier1 - - 55 0 0.00 58 12 17.14 RGS4 0 genome.wustl.edu 37 1 163044073 163044073 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 163044073 163044073 G A SNP RGS4 ENST00000491263 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RGS4 HGNC ENSG00000117152 tier1 - - 36 0 0.00 35 11 23.91 DPY19L2P1 0 genome.wustl.edu 37 7 35144265 35144265 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 35144265 35144265 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 80 0 0.00 82 16 16.33 PTPN11 0 genome.wustl.edu 37 12 112926909 112926909 + Missense_Mutation SNP A A T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 112926909 112926909 A T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.1529 p.Q510L 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 - - 36 0 0.00 45 15 25.00 SCN11A 0 genome.wustl.edu 37 3 38938429 38938429 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 38938429 38938429 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.2310 p.I770 0.086 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 44 0 0.00 47 11 18.97 DCAF4 0 genome.wustl.edu 37 14 73409712 73409712 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 73409712 73409712 G A SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known missense c.442 p.E148K 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 tier1 - - 37 0 0.00 44 12 21.43 SCN3A 0 genome.wustl.edu 37 2 165947040 165947040 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 165947040 165947040 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.5623 p.E1875K 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 30 0 0.00 43 8 15.69 PIK3C2G 0 genome.wustl.edu 37 12 18715756 18715756 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 18715756 18715756 C T SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.3710 p.S1237F 0.887 superfamily_Phox pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 tier1 - - 33 0 0.00 46 10 17.86 FL 0 genome.wustl.edu 37 X 153583286 153583286 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 153583286 153583286 G A SNP FL ENST00000369850 human ensembl 74_37 -1 known silent c.5124 p.F1708 0.965 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 FL HGNC ENSG00000196924 tier1 - - 39 0 0.00 36 16 30.77 CENPT 0 genome.wustl.edu 37 16 67864385 67864385 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 67864385 67864385 G A SNP CENPT ENST00000219172 human ensembl 74_37 -1 known missense c.770 p.S257F 0.036 NULL superfamily_Histone-fold - no_errors CENPT HGNC ENSG00000102901 tier1 - - 27 0 0.00 38 11 22.45 LINC00943 0 genome.wustl.edu 37 12 127229561 127229561 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 127229561 127229561 G A SNP LINC00943 ENST00000345111 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors LINC00943 HGNC ENSG00000189238 tier1 - - 77 0 0.00 88 22 20.00 OBSCN 0 genome.wustl.edu 37 1 228487765 228487765 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 228487765 228487765 C T SNP OBSCN ENST00000366707 human ensembl 74_37 +1 known missense c.3727 p.R1243C 0.022 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,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 - - 37 0 0.00 51 8 13.56 DH10 0 genome.wustl.edu 37 12 124363844 124363844 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 124363844 124363844 G A SNP DH10 ENST00000409039 human ensembl 74_37 +1 known nonsense c.8052 p.W2684* 1.000 superfamily_P-loop_NTPase 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 - - 25 0 0.00 38 7 15.22 ZNF358 0 genome.wustl.edu 37 19 7585743 7585743 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 7585743 7585743 C T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.1615 p.P539S 0.011 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 tier1 - - 47 0 0.00 61 16 20.78 TTN 0 genome.wustl.edu 37 2 179427137 179427137 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 179427137 179427137 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.76018 p.E25340K 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 - - 50 0 0.00 55 20 26.32 INF2 0 genome.wustl.edu 37 14 105180850 105180850 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 105180850 105180850 C T SNP INF2 ENST00000392634 human ensembl 74_37 +1 known silent c.3351 p.S1117 0.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 tier1 - - 56 0 0.00 69 11 13.75 OR4C15 0 genome.wustl.edu 37 11 55322124 55322124 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 55322124 55322124 C T SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known silent c.342 p.F114 0.976 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 65 0 0.00 79 22 21.57 NDRG4 0 genome.wustl.edu 37 16 58545342 58545342 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 58545342 58545342 G A SNP NDRG4 ENST00000394282 human ensembl 74_37 +1 known missense c.1038 p.M346I 1.000 NULL pfam_Ndr - no_errors NDRG4 HGNC ENSG00000103034 tier1 - - 70 0 0.00 108 29 21.17 C1orf87 0 genome.wustl.edu 37 1 60463384 60463384 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 60463384 60463384 G A SNP C1orf87 ENST00000371201 human ensembl 74_37 -1 known silent c.1377 p.F459 0.000 NULL NULL - no_errors C1orf87 HGNC ENSG00000162598 tier1 - - 70 0 0.00 87 22 20.18 NCR3 0 genome.wustl.edu 37 6 31556769 31556769 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 31556769 31556769 G A SNP NCR3 ENST00000491161 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NCR3 HGNC ENSG00000204475 tier1 - - 31 0 0.00 36 4 10.00 CDK5RAP3 0 genome.wustl.edu 37 17 46058895 46058895 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 46058895 46058895 C T SNP CDK5RAP3 ENST00000578663 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CDK5RAP3 HGNC ENSG00000108465 tier1 - - 49 0 0.00 59 13 18.06 CXCR2P1 0 genome.wustl.edu 37 2 218925105 218925105 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 218925105 218925105 G A SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 0.874 - - - no_errors CXCR2P1 HGNC ENSG00000229754 tier1 - - 55 0 0.00 66 14 17.50 CDH9 0 genome.wustl.edu 37 5 26885786 26885786 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 26885786 26885786 G A SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1819 p.L607F 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 49 0 0.00 62 14 18.42 GPR179 0 genome.wustl.edu 37 17 36499244 36499244 + Missense_Mutation SNP T T G TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 36499244 36499244 T G SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.429 p.R143S 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 39 0 0.00 59 9 13.24 LIX1 0 genome.wustl.edu 37 5 96443162 96443162 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 96443162 96443162 C T SNP LIX1 ENST00000274382 human ensembl 74_37 -1 known missense c.289 p.V97M 1.000 NULL NULL - no_errors LIX1 HGNC ENSG00000145721 tier1 - - 79 0 0.00 82 15 15.46 CAPN13 0 genome.wustl.edu 37 2 30976012 30976012 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 30976012 30976012 C T SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.994 p.E332K 0.222 smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 tier1 - - 78 0 0.00 89 18 16.67 MYT1 0 genome.wustl.edu 37 20 62859350 62859350 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 20 62859350 62859350 C T SNP MYT1 ENST00000360149 human ensembl 74_37 +1 known missense c.1738 p.H580Y 0.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 tier1 - - 49 0 0.00 66 9 12.00 SLC38A11 0 genome.wustl.edu 37 2 165802202 165802202 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 165802202 165802202 G A SNP SLC38A11 ENST00000409149 human ensembl 74_37 -1 known missense c.97 p.L33F 0.998 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A11 HGNC ENSG00000169507 tier1 - - 63 0 0.00 64 14 17.95 TRIM64C 0 genome.wustl.edu 37 11 49079704 49079704 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 49079704 49079704 C T SNP TRIM64C ENST00000530230 human ensembl 74_37 -1 known missense c.433 p.D145N 0.003 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64C HGNC ENSG00000214891 tier1 - - 76 0 0.00 98 26 20.97 MXRA5 0 genome.wustl.edu 37 X 3235787 3235787 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 3235787 3235787 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.5935 p.A1979T 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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 MXRA5 HGNC ENSG00000101825 tier1 - - 46 0 0.00 34 22 39.29 SMPD3 0 genome.wustl.edu 37 16 68405025 68405025 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 68405025 68405025 G A SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known missense c.1060 p.P354S 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 tier1 - - 71 0 0.00 77 30 28.04 NF1 0 genome.wustl.edu 37 17 29576111 29576111 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 29576111 29576111 C T SNP NF1 ENST00000358273 human ensembl 74_37 +1 known nonsense c.4084 p.R1362* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 tier1 rs137854560 - 37 0 0.00 42 14 25.00 RELN 0 genome.wustl.edu 37 7 103301848 103301848 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 103301848 103301848 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.1416 p.G472 0.998 NULL 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 - - 57 0 0.00 43 15 25.42 CCDC78 0 genome.wustl.edu 37 16 775537 775537 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 775537 775537 C T SNP CCDC78 ENST00000293889 human ensembl 74_37 -1 known missense c.311 p.G104E 0.026 NULL NULL - no_errors CCDC78 HGNC ENSG00000162004 tier1 - - 26 0 0.00 32 5 13.51 CDCP1 0 genome.wustl.edu 37 3 45153654 45153654 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 45153654 45153654 C T SNP CDCP1 ENST00000296129 human ensembl 74_37 -1 known silent c.576 p.V192 0.125 NULL superfamily_CUB_dom - no_errors CDCP1 HGNC ENSG00000163814 tier1 - - 41 0 0.00 58 6 9.38 ENSG00000234722 0 genome.wustl.edu 37 7 153109985 153109985 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 153109985 153109985 G A SNP ENSG00000234722 ENST00000416982 human ensembl 74_37 -1 known rna NULL NULL 0.078 - - - no_errors AC073236.3 Clone_based_vega_gene ENSG00000234722 tier1 - - 66 0 0.00 77 25 24.51 PIN1 0 genome.wustl.edu 37 19 9949265 9949265 + Nonsense_Mutation SNP C C A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 9949265 9949265 C A SNP PIN1 ENST00000247970 human ensembl 74_37 +1 known nonsense c.212 p.S71* 0.995 pfam_PPIase_PpiC,pfscan_PPIase_PpiC pfam_PPIase_PpiC,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,pfscan_PPIase_PpiC - no_errors PIN1 HGNC ENSG00000127445 tier1 - - 122 0 0.00 164 25 13.16 HHIPL1 0 genome.wustl.edu 37 14 100118632 100118632 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 100118632 100118632 G A SNP HHIPL1 ENST00000330710 human ensembl 74_37 +1 known silent c.327 p.G109 0.984 pfam_Folate_rcpt-like pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors HHIPL1 HGNC ENSG00000182218 tier1 - - 44 0 0.00 41 5 10.87 DCAF5 0 genome.wustl.edu 37 14 69521402 69521402 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 69521402 69521402 G A SNP DCAF5 ENST00000341516 human ensembl 74_37 -1 known silent c.2001 p.L667 0.964 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF5 HGNC ENSG00000139990 tier1 - - 56 0 0.00 84 16 16.00 MXRA5 0 genome.wustl.edu 37 X 3242793 3242793 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 3242793 3242793 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.933 p.F311 0.239 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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 MXRA5 HGNC ENSG00000101825 tier1 - - 30 0 0.00 16 7 30.43 IRF6 0 genome.wustl.edu 37 1 209961786 209961786 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 209961786 209961786 G A SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known silent c.1383 p.P461 0.061 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_D-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom - no_errors IRF6 HGNC ENSG00000117595 tier1 - - 48 0 0.00 79 33 29.46 OSGEP 0 genome.wustl.edu 37 14 20915590 20915590 + Missense_Mutation SNP A A G TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 20915590 20915590 A G SNP OSGEP ENST00000206542 human ensembl 74_37 -1 known missense c.959 p.V320A 1.000 NULL pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEP HGNC ENSG00000092094 tier1 - - 53 0 0.00 53 14 20.59 ENSG00000189275 0 genome.wustl.edu 37 10 133608270 133608270 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 133608270 133608270 C T SNP ENSG00000189275 ENST00000341866 human ensembl 74_37 -1 known missense c.106 p.E36K 0.000 NULL NULL - no_errors AL450307.1 Clone_based_ensembl_gene ENSG00000189275 tier1 - - 89 0 0.00 113 32 22.07 ABCC3 0 genome.wustl.edu 37 17 48745306 48745306 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 48745306 48745306 C T SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.1718 p.S573F 1.000 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 - - 28 0 0.00 34 5 12.82 CRNN 0 genome.wustl.edu 37 1 152383410 152383410 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 152383410 152383410 C T SNP CRNN ENST00000271835 human ensembl 74_37 -1 known missense c.148 p.D50N 0.752 pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 tier1 - - 41 0 0.00 44 12 21.43 AKD1 0 genome.wustl.edu 37 1 109391374 109391374 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 109391374 109391374 C T SNP AKD1 ENST00000370001 human ensembl 74_37 -1 known silent c.1245 p.L415 0.995 pfam_TF_AT-hook pfam_TF_AT-hook - no_errors AKD1 HGNC ENSG00000162641 tier1 - - 50 0 0.00 65 9 12.16 ELL 0 genome.wustl.edu 37 19 18576666 18576666 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 18576666 18576666 G A SNP ELL ENST00000262809 human ensembl 74_37 -1 known silent c.246 p.S82 0.998 pfam_R_pol_II_elong_fac_ELL pfam_R_pol_II_elong_fac_ELL,pfam_Occludin_Rpol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 tier1 - - 73 0 0.00 82 22 21.15 SMYD1 0 genome.wustl.edu 37 2 88409874 88409874 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 88409874 88409874 C T SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known missense c.1316 p.A439V 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 tier1 - - 53 0 0.00 47 6 11.32 FCGBP 0 genome.wustl.edu 37 19 40408491 40408491 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 40408491 40408491 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.4348 p.E1450K 0.894 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 87 0 0.00 114 27 19.15 DPY19L4 0 genome.wustl.edu 37 8 95746906 95746906 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 95746906 95746906 C T SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known missense c.176 p.A59V 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 tier1 rs147410800 GMAF=0.0005 66 0 0.00 64 12 15.79 RSPH6A 0 genome.wustl.edu 37 19 46308052 46308052 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 46308052 46308052 C T SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.1111 p.E371K 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 tier1 - - 63 0 0.00 94 13 12.15 EVI5 0 genome.wustl.edu 37 1 92979091 92979124 + Splice_Site DEL TATATATATATATATATATATATATATATATATG TATATATATATATATATATATATATATATATATG - TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 TATATATATATATATATATATATATATATATATG TATATATATATATATATATATATATATATATATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 92979091 92979124 TATATATATATATATATATATATATATATATATG - DEL EVI5 ENST00000540033 human ensembl 74_37 -1 known splice_site_del c.2433+4_-29 e19-1 0.813:0.811:0.805:0.795:0.780:0.757:0.752:0.742:0.726:0.703:0.669:0.621:0.592:0.563:0.533:0.506:0.417:0.346:0.284:0.101:0.051:0.001:0.001:0.001:0.001:0.003:0.005:0.006:0.006:0.005:0.259:0.426:0.412:0.410 - - - no_errors EVI5 HGNC ENSG00000067208 tier1 CMKLR1 0 genome.wustl.edu 37 12 108685802 108685802 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 108685802 108685802 G A SNP CMKLR1 ENST00000312143 human ensembl 74_37 -1 known missense c.938 p.P313L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 tier1 - - 34 0 0.00 50 8 13.79 EPHA2 0 genome.wustl.edu 37 1 16456751 16456751 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 16456751 16456751 G A SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.2639 p.S880F 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom 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_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 tier1 - - 87 0 0.00 91 13 12.50 CUZD1 0 genome.wustl.edu 37 10 124600736 124600736 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 124600736 124600736 C T SNP CUZD1 ENST00000368904 human ensembl 74_37 -1 known missense c.191 p.R64K 0.949 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC ENSG00000138161 tier1 - - 41 0 0.00 54 11 16.92 UTP6 0 genome.wustl.edu 37 17 30202316 30202316 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 30202316 30202316 G A SNP UTP6 ENST00000261708 human ensembl 74_37 -1 known silent c.1242 p.I414 0.009 NULL pfam_U3_snoR_assoc-6,smart_HAT - no_errors UTP6 HGNC ENSG00000108651 tier1 - - 43 0 0.00 84 13 13.40 CAC1D 0 genome.wustl.edu 37 3 53778779 53778779 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 53778779 53778779 C T SNP CAC1D ENST00000288139 human ensembl 74_37 +1 known silent c.2991 p.I997 1.000 pfam_Ion_trans_dom 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 - - 54 0 0.00 62 16 20.51 VN1R2 0 genome.wustl.edu 37 19 53762706 53762706 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 53762706 53762706 C T SNP VN1R2 ENST00000341702 human ensembl 74_37 +1 known missense c.1078 p.P360S 0.593 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC ENSG00000196131 tier1 - - 45 0 0.00 55 14 20.29 OR2L13 0 genome.wustl.edu 37 1 248263537 248263537 + Frame_Shift_Del DEL T T - TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 248263537 248263537 T - DEL OR2L13 ENST00000358120 human ensembl 74_37 +1 known frame_shift_del c.860 p.I288fs 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 OR2L13 HGNC ENSG00000196071 tier1 46 0 0.00 70 10 12.50 TNRC18 0 genome.wustl.edu 37 7 5427839 5427839 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 5427839 5427839 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.1616 p.A539V 0.196 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 11 0 0.00 20 6 23.08 DSP 0 genome.wustl.edu 37 6 7568118 7568118 + Silent SNP G G T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 7568118 7568118 G T SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.1245 p.L415 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 - - 34 0 0.00 36 5 12.20 SLC12A7 0 genome.wustl.edu 37 5 1081841 1081841 + Missense_Mutation SNP T T G TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 1081841 1081841 T G SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1148 p.Y383S 0.903 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 81 0 0.00 66 14 17.50 ZNF597 0 genome.wustl.edu 37 16 3486648 3486648 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 3486648 3486648 G A SNP ZNF597 ENST00000301744 human ensembl 74_37 -1 known missense c.1051 p.P351S 0.569 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 - no_errors ZNF597 HGNC ENSG00000167981 tier1 - - 47 0 0.00 54 11 16.92 SMARCD3 0 genome.wustl.edu 37 7 150936125 150936125 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 150936125 150936125 G A SNP SMARCD3 ENST00000496530 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SMARCD3 HGNC ENSG00000082014 tier1 - - 31 0 0.00 36 16 30.77 BMS1P20 0 genome.wustl.edu 37 22 22664722 22664722 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 22 22664722 22664722 G A SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors BMS1P20 HGNC ENSG00000236850 tier1 - - 129 0 0.00 143 14 8.92 LOC100129434 0 genome.wustl.edu 37 2 56404842 56404842 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 56404842 56404842 C T SNP LOC100129434 ENST00000432793 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC007743.1 Clone_based_vega_gene ENSG00000233251 tier1 - - 48 0 0.00 33 15 31.25 GPR98 0 genome.wustl.edu 37 5 90052412 90052412 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 90052412 90052412 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.11722 p.D3908N 1.000 smart_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 - - 37 0 0.00 24 7 22.58 BMP1 0 genome.wustl.edu 37 8 22033795 22033795 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 22033795 22033795 C T SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known silent c.402 p.V134 1.000 pirsf_BMP_1/tolloid-like,pfam_Peptidase_M12A,smart_Peptidase_Metallo pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 tier1 - - 50 0 0.00 56 6 9.68 PCDHA4 0 genome.wustl.edu 37 5 140188055 140188055 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 140188055 140188055 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1283 p.R428Q 0.000 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 PCDHA4 HGNC ENSG00000204967 tier1 - - 95 0 0.00 152 31 16.94 AMN 0 genome.wustl.edu 37 14 103394780 103394780 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 103394780 103394780 G A SNP AMN ENST00000299155 human ensembl 74_37 +1 known silent c.225 p.G75 0.261 NULL NULL - no_errors AMN HGNC ENSG00000166126 tier1 - - 37 0 0.00 53 9 14.29 ENSG00000215958 0 genome.wustl.edu 37 15 70077755 70077756 + R INS - - TGTGTG TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 70077755 70077756 - TGTGTG INS ENSG00000215958 ENST00000401139 human ensembl 74_37 -1 novel rna NULL NULL 0.176:0.181 - - - no_errors AC021818.1 Clone_based_ensembl_gene ENSG00000215958 tier1 RDH13 0 genome.wustl.edu 37 19 55574429 55574430 + R INS - - GGCGTCC TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 55574429 55574430 - GGCGTCC INS RDH13 ENST00000589305 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.003 - - - no_errors RDH13 HGNC ENSG00000160439 tier1 HLA-E 0 genome.wustl.edu 37 6 30458215 30458215 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 30458215 30458215 G A SNP HLA-E ENST00000376630 human ensembl 74_37 +1 known missense c.533 p.R178K 0.094 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-E HGNC ENSG00000204592 tier1 - - 27 0 0.00 42 13 23.64 DCC 0 genome.wustl.edu 37 18 50683867 50683867 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 18 50683867 50683867 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.1403 p.R468K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 48 0 0.00 52 13 20.00 POU3F2 0 genome.wustl.edu 37 6 99283814 99283814 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 99283814 99283814 G A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known silent c.1065 p.R355 1.000 pirsf_Transcription_factor_POU,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 tier1 - - 42 0 0.00 64 14 17.95 TNPO1 0 genome.wustl.edu 37 5 72171473 72171473 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 72171473 72171473 C T SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.710 p.P237L 1.000 pfam_HEAT,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 - - 33 0 0.00 45 18 28.57 TTF1 0 genome.wustl.edu 37 9 135277166 135277166 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 135277166 135277166 G A SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.1043 p.A348V 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 tier1 - - 52 0 0.00 45 21 31.34 TRIM66 0 genome.wustl.edu 37 11 8646081 8646081 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 8646081 8646081 G A SNP TRIM66 ENST00000402157 human ensembl 74_37 -1 novel silent c.2403 p.S801 0.006 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_B-box,smart_Znf_PHD,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors TRIM66 HGNC ENSG00000166436 tier1 - - 50 0 0.00 46 11 19.30 MMP16 0 genome.wustl.edu 37 8 89086866 89086866 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 89086866 89086866 C T SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1189 p.E397K 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat 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 MMP16 HGNC ENSG00000156103 tier1 - - 47 0 0.00 61 11 15.28 KL 0 genome.wustl.edu 37 13 33628363 33628363 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 13 33628363 33628363 G A SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.1279 p.D427N 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 tier1 - - 55 0 0.00 40 22 35.48 SRSF1 0 genome.wustl.edu 37 17 56084431 56084431 + Missense_Mutation SNP A A G TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 56084431 56084431 A G SNP SRSF1 ENST00000258962 human ensembl 74_37 -1 known missense c.68 p.L23S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC ENSG00000136450 tier1 - - 42 0 0.00 61 16 20.78 ENSG00000188477 0 genome.wustl.edu 37 16 19318867 19318867 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 19318867 19318867 G A SNP ENSG00000188477 ENST00000468219 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC003003.5 Clone_based_vega_gene ENSG00000188477 tier1 - - 11 0 0.00 22 6 21.43 PCLO 0 genome.wustl.edu 37 7 82579048 82579048 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 82579048 82579048 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.10856 p.S3619F 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 - - 56 0 0.00 38 14 26.92 WDR36 0 genome.wustl.edu 37 5 110448791 110448791 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 110448791 110448791 C T SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.1903 p.R635C 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 tier1 - - 99 0 0.00 104 24 18.75 ZDHHC23 0 genome.wustl.edu 37 3 113679744 113679744 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 113679744 113679744 C T SNP ZDHHC23 ENST00000488129 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ZDHHC23 HGNC ENSG00000184307 tier1 - - 14 0 0.00 23 7 23.33 MPPED1 0 genome.wustl.edu 37 22 43831086 43831086 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 22 43831086 43831086 C T SNP MPPED1 ENST00000538182 human ensembl 74_37 +1 known silent c.456 p.F152 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED1 HGNC ENSG00000186732 tier1 - - 75 0 0.00 60 19 23.75 BTN2A3P 0 genome.wustl.edu 37 6 26428148 26428148 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 26428148 26428148 C T SNP BTN2A3P ENST00000463944 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BTN2A3P HGNC ENSG00000124549 tier1 - - 49 0 0.00 49 12 19.67 TRPC4AP 0 genome.wustl.edu 37 20 33632313 33632313 + Missense_Mutation SNP T T G TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 20 33632313 33632313 T G SNP TRPC4AP ENST00000252015 human ensembl 74_37 -1 known missense c.860 p.N287T 1.000 NULL pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 tier1 - - 49 0 0.00 47 9 16.07 KCNRG 0 genome.wustl.edu 37 13 50594376 50594376 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 13 50594376 50594376 G A SNP KCNRG ENST00000312942 human ensembl 74_37 +1 known missense c.605 p.R202Q 0.988 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCNRG HGNC ENSG00000198553 tier1 - - 66 0 0.00 57 31 34.83 FARP2 0 genome.wustl.edu 37 2 242371175 242371175 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 242371175 242371175 C T SNP FARP2 ENST00000264042 human ensembl 74_37 +1 known missense c.853 p.H285Y 1.000 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP2 HGNC ENSG00000006607 tier1 - - 69 0 0.00 77 19 19.79 KIAA1549 0 genome.wustl.edu 37 7 138583853 138583853 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 138583853 138583853 C T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.3695 p.G1232E 1.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 59 0 0.00 68 15 18.07 ANKK1 0 genome.wustl.edu 37 11 113270707 113270707 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 113270707 113270707 C T SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known silent c.2016 p.F672 0.998 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 tier1 - - 42 0 0.00 61 12 16.44 PRR23C 0 genome.wustl.edu 37 3 138763066 138763066 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 138763066 138763066 C T SNP PRR23C ENST00000413199 human ensembl 74_37 -1 known missense c.397 p.E133K 0.006 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23C HGNC ENSG00000233701 tier1 - - 42 0 0.00 50 12 19.35 ACAP1 0 genome.wustl.edu 37 17 7253484 7253484 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 7253484 7253484 G A SNP ACAP1 ENST00000158762 human ensembl 74_37 +1 known missense c.2000 p.G667E 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 tier1 - - 94 0 0.00 112 25 18.12 TLR2 0 genome.wustl.edu 37 4 154624787 154624787 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 154624787 154624787 C T SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known missense c.728 p.S243F 0.002 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 tier1 - - 48 0 0.00 68 12 15.00 IGSF9 0 genome.wustl.edu 37 1 159899162 159899162 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 159899162 159899162 G A SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known missense c.2348 p.P783L 0.004 NULL pfam_Ig_I-set,pfam_Immunoglobulin,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 IGSF9 HGNC ENSG00000085552 tier1 - - 24 0 0.00 28 8 22.22 MEX3B 0 genome.wustl.edu 37 15 82336250 82336250 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 82336250 82336250 G A SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known missense c.961 p.P321S 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 tier1 - - 27 0 0.00 33 7 17.50 MUC16 0 genome.wustl.edu 37 19 9056817 9056817 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 9056817 9056817 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30629 p.S10210L 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 24 0 0.00 31 6 16.22 ANKS1A 0 genome.wustl.edu 37 6 35051241 35051241 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 35051241 35051241 C T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known silent c.2955 p.I985 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 tier1 - - 35 0 0.00 40 5 11.11 SDC2 0 genome.wustl.edu 37 8 97620692 97620692 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 97620692 97620692 C T SNP SDC2 ENST00000302190 human ensembl 74_37 +1 known silent c.436 p.L146 1.000 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC2 HGNC ENSG00000169439 tier1 - - 27 0 0.00 42 11 20.75 LAMC1 0 genome.wustl.edu 37 1 183086567 183086567 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 183086567 183086567 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known silent c.1677 p.F559 1.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,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 LAMC1 HGNC ENSG00000135862 tier1 - - 38 0 0.00 57 9 13.64 RASL11A 0 genome.wustl.edu 37 13 27847334 27847334 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 13 27847334 27847334 C T SNP RASL11A ENST00000241463 human ensembl 74_37 +1 known silent c.432 p.I144 0.943 pfam_Small_GTPase,pfam_MIRO-like,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 pfam_Small_GTPase,pfam_MIRO-like,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 RASL11A HGNC ENSG00000122035 tier1 rs149565737 GMAF=0.0005 39 0 0.00 33 17 34.00 COL4A5 0 genome.wustl.edu 37 X 107898618 107898618 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 107898618 107898618 G A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.3304 p.D1102N 0.489 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 30 0 0.00 24 16 40.00 IRF6 0 genome.wustl.edu 37 1 209961873 209961873 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 209961873 209961873 G A SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known silent c.1296 p.I432 0.134 superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_D-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom - no_errors IRF6 HGNC ENSG00000117595 tier1 - - 67 0 0.00 81 17 17.35 SORBS2 0 genome.wustl.edu 37 4 186578613 186578613 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 186578613 186578613 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.232 p.V78M 1.000 pfam_Sorb,smart_Sorb,pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 - - 33 0 0.00 37 4 9.76 ST6GAL2 0 genome.wustl.edu 37 2 107460171 107460171 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 107460171 107460171 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.263 p.S88F 0.003 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 tier1 - - 46 0 0.00 64 14 17.95 ABCB5 0 genome.wustl.edu 37 7 20762706 20762706 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 20762706 20762706 C T SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.1154 p.S385F 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 tier1 - - 48 0 0.00 45 11 19.30 OR14K1 0 genome.wustl.edu 37 1 247902365 247902365 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 247902365 247902365 G A SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.449 p.R150K 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 tier1 - - 31 0 0.00 30 5 14.29 FMO6P 0 genome.wustl.edu 37 1 171118800 171118800 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 171118800 171118800 C T SNP FMO6P ENST00000236166 human ensembl 74_37 +1 novel silent c.729 p.L243 0.368 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D 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 - - 88 0 0.00 97 16 14.16 GABRA6 0 genome.wustl.edu 37 5 161118974 161118974 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 161118974 161118974 C T SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.854 p.T285I 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_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 tier1 - - 39 0 0.00 45 11 19.64 SCP2D1 0 genome.wustl.edu 37 20 18794541 18794541 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 20 18794541 18794541 G A SNP SCP2D1 ENST00000377428 human ensembl 74_37 +1 known missense c.82 p.V28I 0.075 NULL pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom - no_errors SCP2D1 HGNC ENSG00000132631 tier1 - - 39 0 0.00 50 7 12.28 PRAM1 0 genome.wustl.edu 37 19 8563136 8563136 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 8563136 8563136 G A SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known silent c.1470 p.F490 0.037 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 tier1 - - 125 0 0.00 116 24 17.14 ENSG00000257829 0 genome.wustl.edu 37 12 52702068 52702068 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 52702068 52702068 C T SNP ENSG00000257829 ENST00000552441 human ensembl 74_37 -1 known rna NULL NULL 0.069 - - - no_errors RP11-845M18.6 Clone_based_vega_gene ENSG00000257829 tier1 - - 151 1 0.65 176 33 15.79 OBSCN 0 genome.wustl.edu 37 1 228547866 228547866 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 228547866 228547866 G A SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known missense c.10630 p.E3544K 0.012 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,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,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 22 0 0.00 27 9 25.00 C7orf34 0 genome.wustl.edu 37 7 142636666 142636666 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 142636666 142636666 C T SNP C7orf34 ENST00000409607 human ensembl 74_37 +1 known missense c.23 p.S8F 0.000 NULL NULL - no_errors C7orf34 HGNC ENSG00000165131 tier1 rs200663678 - 25 0 0.00 17 7 29.17 HVCN1 0 genome.wustl.edu 37 12 111087228 111087228 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 111087228 111087228 C T SNP HVCN1 ENST00000242607 human ensembl 74_37 -1 known missense c.809 p.G270D 0.002 NULL pfam_Ion_trans_dom - no_errors HVCN1 HGNC ENSG00000122986 tier1 - - 91 0 0.00 83 14 14.43 SLN 0 genome.wustl.edu 37 11 107578584 107578584 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 107578584 107578584 G A SNP SLN ENST00000305991 human ensembl 74_37 -1 known missense c.73 p.L25F 0.996 pfam_Sarcolipin pfam_Sarcolipin - no_errors SLN HGNC ENSG00000170290 tier1 - - 37 0 0.00 37 6 13.95 IGSF22 0 genome.wustl.edu 37 11 18731163 18731163 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 18731163 18731163 C T SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known nonsense c.2769 p.W923* 0.996 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 IGSF22 HGNC ENSG00000179057 tier1 - - 25 0 0.00 36 5 12.20 SCN10A 0 genome.wustl.edu 37 3 38783839 38783839 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 38783839 38783839 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.2049 p.A683 1.000 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 - - 32 0 0.00 29 6 17.14 ELN 0 genome.wustl.edu 37 7 73470692 73470692 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 73470692 73470692 C T SNP ELN ENST00000358929 human ensembl 74_37 +1 known silent c.1242 p.I414 0.009 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 tier1 - - 110 0 0.00 101 14 12.17 GVINP1 0 genome.wustl.edu 37 11 6738447 6738447 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 6738447 6738447 G A SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 14 0 0.00 38 8 17.39 TARSL2 0 genome.wustl.edu 37 15 102215839 102215839 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 102215839 102215839 G A SNP TARSL2 ENST00000335968 human ensembl 74_37 -1 known silent c.1752 p.F584 1.000 pfam_aa-tR-synt_IIb_cons-dom,pfscan_aa-tR-synth_II,tigrfam_Thr-tR-ligase_IIa pfam_aa-tR-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tR_SAD,superfamily_Thr/Ala-tR-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tR_SAD,pfscan_aa-tR-synth_II,prints_Thr-tR-ligase_IIa,tigrfam_Thr-tR-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 tier1 - - 57 0 0.00 98 12 10.91 OR5K4 0 genome.wustl.edu 37 3 98072975 98072975 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 98072975 98072975 C T SNP OR5K4 ENST00000354924 human ensembl 74_37 +1 known missense c.278 p.S93F 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 OR5K4 HGNC ENSG00000196098 tier1 - - 47 0 0.00 60 15 20.00 LRIG2 0 genome.wustl.edu 37 1 113662088 113662088 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 113662088 113662088 C T SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.2914 p.P972S 1.000 NULL 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 - - 27 0 0.00 31 8 20.51 DH17 0 genome.wustl.edu 37 17 76482056 76482056 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 76482056 76482056 C T SNP DH17 ENST00000389840 human ensembl 74_37 -1 known missense c.7219 p.D2407N 0.990 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,superfamily_HR1_rho-bd - no_errors DH17 HGNC ENSG00000187775 tier1 rs201273328 - 51 0 0.00 62 7 10.14 NLRC3 0 genome.wustl.edu 37 16 3614547 3614547 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 3614547 3614547 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.532 p.L178F 0.999 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 19 0 0.00 9 5 35.71 DCHS2 0 genome.wustl.edu 37 4 155156102 155156102 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 155156102 155156102 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known nonsense c.8337 p.W2779* 1.000 NULL pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 26 0 0.00 26 5 16.13 RBFOX1 0 genome.wustl.edu 37 16 7102075 7102075 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 7102075 7102075 G A SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.132 p.M44I 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 - - 51 0 0.00 48 11 18.64 SLC34A1 0 genome.wustl.edu 37 5 176815283 176815283 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 176815283 176815283 C T SNP SLC34A1 ENST00000324417 human ensembl 74_37 +1 known silent c.846 p.D282 1.000 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 tier1 - - 34 0 0.00 51 11 17.74 KP2 0 genome.wustl.edu 37 17 66041988 66041988 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 66041988 66041988 C T SNP KP2 ENST00000330459 human ensembl 74_37 +1 known missense c.1448 p.S483F 0.849 superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KP2 HGNC ENSG00000182481 tier1 - - 53 0 0.00 71 15 17.44 TMC7 0 genome.wustl.edu 37 16 19020580 19020580 + Missense_Mutation SNP A A G TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 19020580 19020580 A G SNP TMC7 ENST00000304381 human ensembl 74_37 +1 known missense c.154 p.R52G 0.463 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 tier1 - - 56 0 0.00 45 16 26.23 MAGEC1 0 genome.wustl.edu 37 X 140994946 140994946 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 140994946 140994946 G A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.1756 p.G586R 0.675 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 43 0 0.00 43 16 26.67 SEC14L4 0 genome.wustl.edu 37 22 30887889 30887889 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 22 30887889 30887889 C T SNP SEC14L4 ENST00000255858 human ensembl 74_37 -1 known silent c.843 p.T281 0.000 superfamily_GOLD,pfscan_GOLD 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 SEC14L4 HGNC ENSG00000133488 tier1 - - 61 0 0.00 52 21 28.77 AAK1 0 genome.wustl.edu 37 2 69746219 69746219 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 69746219 69746219 G A SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known missense c.1364 p.A455V 0.736 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 AAK1 HGNC ENSG00000115977 tier1 - - 94 0 0.00 131 26 16.56 TUBA4B 0 genome.wustl.edu 37 2 220118077 220118077 + R DEL G G - TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 220118077 220118077 G - DEL TUBA4B ENST00000473885 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TUBA4B HGNC ENSG00000243910 tier1 15 0 0.00 23 5 17.86 FAM71B 0 genome.wustl.edu 37 5 156589653 156589653 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 156589653 156589653 G A SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known silent c.1623 p.L541 0.002 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 tier1 - - 75 0 0.00 65 15 18.75 POLR2J4 0 genome.wustl.edu 37 7 44005872 44005872 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 44005872 44005872 G A SNP POLR2J4 ENST00000427076 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors POLR2J4 HGNC ENSG00000214783 tier1 - - 115 0 0.00 146 38 20.54 ABR 0 genome.wustl.edu 37 17 913999 913999 + Missense_Mutation SNP G G C TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 913999 913999 G C SNP ABR ENST00000302538 human ensembl 74_37 -1 known missense c.2206 p.R736G 0.994 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 tier1 - - 43 0 0.00 33 8 19.51 SNHG14 0 genome.wustl.edu 37 15 25490553 25490553 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 25490553 25490553 C T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.080 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 25 0 0.00 41 9 18.00 TNIP3 0 genome.wustl.edu 37 4 122085294 122085294 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 122085294 122085294 C T SNP TNIP3 ENST00000509841 human ensembl 74_37 -1 putative missense c.218 p.G73E 0.575 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 tier1 - - 37 0 0.00 41 10 19.61 LY6G6C 0 genome.wustl.edu 37 6 31686914 31686914 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 31686914 31686914 G A SNP LY6G6C ENST00000375819 human ensembl 74_37 -1 known missense c.337 p.L113F 0.697 NULL NULL - no_errors LY6G6C HGNC ENSG00000204421 tier1 - - 38 0 0.00 50 12 19.35 OXGR1 0 genome.wustl.edu 37 13 97639515 97639515 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 13 97639515 97639515 G A SNP OXGR1 ENST00000298440 human ensembl 74_37 -1 known missense c.499 p.P167S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXGR1 HGNC ENSG00000165621 tier1 - - 35 0 0.00 31 12 27.91 OR2L5 0 genome.wustl.edu 37 1 248185768 248185768 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 248185768 248185768 C T SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known silent c.519 p.I173 0.003 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 OR2L5 HGNC ENSG00000197454 tier1 - - 65 0 0.00 73 16 17.98 INHBA 0 genome.wustl.edu 37 7 41729832 41729832 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 41729832 41729832 G A SNP INHBA ENST00000242208 human ensembl 74_37 -1 known nonsense c.697 p.Q233* 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 tier1 - - 51 0 0.00 58 14 19.44 GEMIN5 0 genome.wustl.edu 37 5 154305483 154305483 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 154305483 154305483 G A SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known missense c.1232 p.S411F 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 tier1 - - 22 0 0.00 47 10 17.54 SRSF1 0 genome.wustl.edu 37 17 56084432 56084432 + Missense_Mutation SNP A A T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 56084432 56084432 A T SNP SRSF1 ENST00000258962 human ensembl 74_37 -1 known missense c.67 p.L23I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC ENSG00000136450 tier1 - - 42 0 0.00 62 16 20.51 PLCB4 0 genome.wustl.edu 37 20 9370585 9370585 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 20 9370585 9370585 C T SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known silent c.1218 p.L406 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,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,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 tier1 - - 22 0 0.00 35 6 14.63 KIAA1239 0 genome.wustl.edu 37 4 37446810 37446810 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 37446810 37446810 C T SNP KIAA1239 ENST00000309447 human ensembl 74_37 +1 known missense c.3200 p.S1067F 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 tier1 - - 25 0 0.00 29 4 12.12 CNTN6 0 genome.wustl.edu 37 3 1418690 1418690 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 1418690 1418690 C T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.2097 p.V699 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 tier1 - - 57 0 0.00 81 20 19.80 ACTG2 0 genome.wustl.edu 37 2 74146599 74146599 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 74146599 74146599 G A SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known missense c.1028 p.G343E 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 tier1 - - 61 0 0.00 61 7 10.29 MYO7B 0 genome.wustl.edu 37 2 128341770 128341770 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 128341770 128341770 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.1417 p.E473K 1.000 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 - - 49 0 0.00 53 11 17.19 SLC13A1 0 genome.wustl.edu 37 7 122759271 122759271 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 122759271 122759271 C T SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.1376 p.G459E 0.895 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 tier1 - - 40 0 0.00 22 9 29.03 WDR11 0 genome.wustl.edu 37 10 122667788 122667789 + R INS - - TGGGAGAATC TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 122667788 122667789 - TGGGAGAATC INS WDR11 ENST00000604714 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.086 - - - no_errors WDR11 HGNC ENSG00000120008 tier1 WEE2 0 genome.wustl.edu 37 7 141427177 141427177 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 141427177 141427177 C T SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known missense c.1466 p.S489F 0.467 superfamily_Kinase-like_dom,pirsf_Wee1-like_protein_kinase 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 - - 44 0 0.00 32 16 33.33 OR5D14 0 genome.wustl.edu 37 11 55563415 55563415 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 55563415 55563415 C T SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known silent c.384 p.I128 0.994 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 OR5D14 HGNC ENSG00000186113 tier1 - - 77 0 0.00 89 17 15.89 ZNF335 0 genome.wustl.edu 37 20 44582452 44582452 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 20 44582452 44582452 G A SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known nonsense c.2578 p.Q860* 0.971 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 tier1 - - 56 0 0.00 77 16 17.20 RAB31 0 genome.wustl.edu 37 18 9815151 9815151 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 18 9815151 9815151 G A SNP RAB31 ENST00000578921 human ensembl 74_37 +1 known silent c.312 p.L104 1.000 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,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom 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,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB31 HGNC ENSG00000168461 tier1 - - 41 0 0.00 67 6 8.00 MUC2 0 genome.wustl.edu 37 11 1084347 1084347 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 1084347 1084347 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.2479 p.D827N 0.001 smart_VWC_out,smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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 MUC2 HGNC ENSG00000198788 tier1 - - 91 0 0.00 87 14 13.86 BRINP3 0 genome.wustl.edu 37 1 190423993 190423993 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 190423993 190423993 C T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.28 p.E10K 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 50 0 0.00 40 8 16.67 FGFR4 0 genome.wustl.edu 37 5 176517791 176517791 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 176517791 176517791 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.401 p.R134K 0.001 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 FGFR4 HGNC ENSG00000160867 tier1 - - 87 0 0.00 83 23 21.70 LINC00639 0 genome.wustl.edu 37 14 39304592 39304592 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 39304592 39304592 G A SNP LINC00639 ENST00000553932 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors LINC00639 HGNC ENSG00000259070 tier1 - - 21 0 0.00 26 8 23.53 SYNGAP1 0 genome.wustl.edu 37 6 33408709 33408709 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 33408709 33408709 C T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.1880 p.A627V 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 tier1 - - 33 0 0.00 43 13 23.21 TTN 0 genome.wustl.edu 37 2 179593002 179593002 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 179593002 179593002 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15817 p.D5273N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,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,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 36 10 21.74 S1PR1 0 genome.wustl.edu 37 1 101704967 101704967 + Missense_Mutation SNP T T C TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 101704967 101704967 T C SNP S1PR1 ENST00000305352 human ensembl 74_37 +1 known missense c.427 p.Y143H 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_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 tier1 - - 23 0 0.00 25 6 19.35 NOX4 0 genome.wustl.edu 37 11 89177369 89177369 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 89177369 89177369 G A SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known silent c.444 p.A148 0.996 pfam_Fe3_Rdtase_TM_dom pfam_Fe_red_D-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 tier1 - - 30 0 0.00 37 7 15.91 NXF1 0 genome.wustl.edu 37 11 62568587 62568587 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 62568587 62568587 G A SNP NXF1 ENST00000294172 human ensembl 74_37 -1 known silent c.885 p.I295 1.000 pfam_Leu-rich_rpt pfam_Tap_R-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 tier1 rs144471031 - 56 0 0.00 44 20 31.25 KLF13 0 genome.wustl.edu 37 15 31670093 31670093 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 31670093 31670093 C T SNP KLF13 ENST00000558673 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors KLF13 HGNC ENSG00000169926 tier1 - - 33 0 0.00 23 7 23.33 KALRN 0 genome.wustl.edu 37 3 124207076 124207076 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 124207076 124207076 G A SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.4304 p.G1435E 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 - - 57 0 0.00 40 11 21.57 SEL1L3 0 genome.wustl.edu 37 4 25806367 25806367 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 25806367 25806367 C T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known silent c.1572 p.R524 0.815 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 tier1 - - 45 0 0.00 52 8 13.33 PCDHAC2 0 genome.wustl.edu 37 5 140348244 140348244 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 140348244 140348244 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known silent c.1893 p.D631 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 PCDHAC2 HGNC ENSG00000243232 tier1 - - 33 0 0.00 42 19 31.15 SLC6A5 0 genome.wustl.edu 37 11 20673895 20673895 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 20673895 20673895 C T SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.2131 p.P711S 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 tier1 - - 53 0 0.00 56 9 13.85 PRIM2 0 genome.wustl.edu 37 6 57512787 57512788 + R INS - - CACCAAGGC TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 57512787 57512788 - CACCAAGGC INS PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 0.057:0.034 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 SYT10 0 genome.wustl.edu 37 12 33538212 33538212 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 33538212 33538212 C T SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known silent c.1092 p.L364 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 tier1 - - 37 0 0.00 41 7 14.58 POTEB2 0 genome.wustl.edu 37 15 21051205 21051205 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 21051205 21051205 C T SNP POTEB2 ENST00000454856 human ensembl 74_37 -1 known missense c.1255 p.E419K 0.000 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 POTEB2 HGNC ENSG00000230031 tier1 - - 175 0 0.00 190 26 12.04 MUC16 0 genome.wustl.edu 37 19 9076249 9076249 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 9076249 9076249 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.11197 p.L3733 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 39 0 0.00 49 6 10.91 MGAM 0 genome.wustl.edu 37 7 141756678 141756678 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 141756678 141756678 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.3629 p.G1210E 1.000 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 MGAM HGNC ENSG00000257335 tier1 - - 78 0 0.00 122 25 17.01 KRT33A 0 genome.wustl.edu 37 17 39503390 39503390 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 39503390 39503390 G A SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known silent c.673 p.L225 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 tier1 - - 81 0 0.00 108 23 17.42 CILP 0 genome.wustl.edu 37 15 65499297 65499297 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 65499297 65499297 C T SNP CILP ENST00000261883 human ensembl 74_37 -1 known missense c.247 p.D83N 0.917 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 - - 52 0 0.00 55 8 12.70 LMX1A 0 genome.wustl.edu 37 1 165175183 165175183 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 165175183 165175183 G A SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known silent c.906 p.I302 0.532 NULL 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 - - 34 0 0.00 34 10 22.73 RPRD2 0 genome.wustl.edu 37 1 150444277 150444277 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 150444277 150444277 C T SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known silent c.2853 p.T951 0.657 NULL pfam_R_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 tier1 - - 41 0 0.00 61 18 22.50 AFF2 0 genome.wustl.edu 37 X 148062301 148062301 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 148062301 148062301 C T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.3604 p.P1202S 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 22 0 0.00 15 12 42.86 CSMD2 0 genome.wustl.edu 37 1 34209095 34209095 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 34209095 34209095 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.1959 p.E653 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 CSMD2 HGNC ENSG00000121904 tier1 - - 41 0 0.00 39 9 18.75 SYNE1 0 genome.wustl.edu 37 6 152730338 152730338 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 152730338 152730338 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.6405 p.M2135I 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin 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 - - 58 0 0.00 69 22 24.18 SP1 0 genome.wustl.edu 37 12 53800456 53800456 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 53800456 53800456 G A SNP SP1 ENST00000327443 human ensembl 74_37 +1 known missense c.1763 p.S588N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 tier1 - - 77 0 0.00 85 18 17.31 PTX4 0 genome.wustl.edu 37 16 1536178 1536178 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 1536178 1536178 G A SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.1199 p.S400F 0.927 pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 tier1 - - 90 0 0.00 85 24 22.02 DDX11L9 0 genome.wustl.edu 37 15 102516816 102516816 + R SNP G G T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 102516816 102516816 G T SNP DDX11L9 ENST00000559159 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DDX11L9 HGNC ENSG00000248472 tier1 - - 12 0 0.00 12 4 25.00 PRKCH 0 genome.wustl.edu 37 14 61997257 61997257 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 61997257 61997257 G A SNP PRKCH ENST00000332981 human ensembl 74_37 +1 known missense c.1705 p.D569N 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_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom 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 PRKCH HGNC ENSG00000027075 tier1 - - 83 0 0.00 107 17 13.71 KRT86 0 genome.wustl.edu 37 12 52699530 52699530 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 52699530 52699530 G A SNP KRT86 ENST00000293525 human ensembl 74_37 +1 known missense c.984 p.M328I 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 HGNC ENSG00000170442 tier1 - - 103 1 0.96 135 28 17.18 CHODL 0 genome.wustl.edu 37 21 19629360 19629360 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 21 19629360 19629360 C T SNP CHODL ENST00000299295 human ensembl 74_37 +1 known missense c.463 p.P155S 1.000 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 - no_errors CHODL HGNC ENSG00000154645 tier1 - - 41 0 0.00 35 6 14.63 FAT4 0 genome.wustl.edu 37 4 126373193 126373193 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 126373193 126373193 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.11022 p.S3674 0.574 superfamily_Cadherin-like pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 29 0 0.00 36 8 18.18 HHIPL1 0 genome.wustl.edu 37 14 100119155 100119155 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 100119155 100119155 G A SNP HHIPL1 ENST00000330710 human ensembl 74_37 +1 known missense c.850 p.E284K 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors HHIPL1 HGNC ENSG00000182218 tier1 - - 26 0 0.00 47 13 21.67 CHAT 0 genome.wustl.edu 37 10 50857626 50857626 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 50857626 50857626 G A SNP CHAT ENST00000337653 human ensembl 74_37 +1 known nonsense c.1455 p.W485* 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 - - 26 0 0.00 29 11 27.50 A2M 0 genome.wustl.edu 37 12 9225050 9225050 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 9225050 9225050 C T SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.4008 p.K1336 0.000 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,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 tier1 - - 58 0 0.00 61 15 19.74 TRIOBP 0 genome.wustl.edu 37 22 38121467 38121467 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 22 38121467 38121467 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known silent c.2904 p.T968 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 38 0 0.00 40 6 13.04 NLRP6 0 genome.wustl.edu 37 11 285284 285284 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 285284 285284 G A SNP NLRP6 ENST00000312165 human ensembl 74_37 +1 known missense c.2659 p.E887K 0.001 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 NLRP6 HGNC ENSG00000174885 tier1 - - 66 0 0.00 87 11 11.22 CAND1 0 genome.wustl.edu 37 12 67699121 67699121 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 67699121 67699121 C T SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.1673 p.S558L 0.994 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 tier1 - - 36 0 0.00 43 5 10.42 RAD51D 0 genome.wustl.edu 37 17 33448323 33448323 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 33448323 33448323 C T SNP RAD51D ENST00000415064 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors RAD51D HGNC ENSG00000185379 tier1 - - 69 0 0.00 70 19 21.35 ITIH5 0 genome.wustl.edu 37 10 7679438 7679438 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 7679438 7679438 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known silent c.405 p.E135 0.980 pfam_VIT,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 - - 32 0 0.00 30 8 20.51 OR2A14 0 genome.wustl.edu 37 7 143826692 143826692 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 143826692 143826692 C T SNP OR2A14 ENST00000408899 human ensembl 74_37 +1 known silent c.487 p.L163 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A14 HGNC ENSG00000221938 tier1 - - 63 0 0.00 57 7 10.94 ASXL3 0 genome.wustl.edu 37 18 31324429 31324429 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 18 31324429 31324429 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.4617 p.F1539 0.586 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 42 0 0.00 27 10 27.03 CSNK1G2 0 genome.wustl.edu 37 19 1980163 1980163 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 1980163 1980163 C T SNP CSNK1G2 ENST00000255641 human ensembl 74_37 +1 known silent c.1209 p.F403 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G2 HGNC ENSG00000133275 tier1 - - 73 0 0.00 83 16 16.16 CBX8 0 genome.wustl.edu 37 17 77769185 77769185 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 77769185 77769185 C T SNP CBX8 ENST00000269385 human ensembl 74_37 -1 known missense c.419 p.S140N 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 tier1 - - 55 0 0.00 47 9 16.07 KRTAP10-11 0 genome.wustl.edu 37 21 46067223 46067223 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 21 46067223 46067223 C T SNP KRTAP10-11 ENST00000334670 human ensembl 74_37 +1 known missense c.848 p.S283F 0.002 NULL NULL - no_errors KRTAP10-11 HGNC ENSG00000243489 tier1 - - 128 0 0.00 82 21 20.39 ATP2B2 0 genome.wustl.edu 37 3 10417133 10417133 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 10417133 10417133 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.1397 p.S466L 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase 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 - - 23 0 0.00 31 10 24.39 LOC100128682 0 genome.wustl.edu 37 19 35899507 35899507 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 35899507 35899507 G A SNP LOC100128682 ENST00000536898 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AC002511.1 Clone_based_vega_gene ENSG00000205786 tier1 - - 39 0 0.00 65 18 21.69 BHMT2 0 genome.wustl.edu 37 5 78373369 78373369 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 78373369 78373369 G A SNP BHMT2 ENST00000255192 human ensembl 74_37 +1 known missense c.100 p.E34K 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT2 HGNC ENSG00000132840 tier1 - - 67 0 0.00 58 13 18.31 ADCY7 0 genome.wustl.edu 37 16 50325793 50325793 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 50325793 50325793 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known silent c.522 p.V174 0.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 tier1 - - 53 0 0.00 61 16 20.78 C22orf42 0 genome.wustl.edu 37 22 32548573 32548573 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 22 32548573 32548573 C T SNP C22orf42 ENST00000382097 human ensembl 74_37 -1 known silent c.348 p.V116 0.003 NULL NULL - no_errors C22orf42 HGNC ENSG00000205856 tier1 - - 49 0 0.00 77 16 17.20 SH2D1B 0 genome.wustl.edu 37 1 162381845 162381845 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 162381845 162381845 G A SNP SH2D1B ENST00000493550 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors SH2D1B HGNC ENSG00000198574 tier1 - - 26 0 0.00 30 10 25.00 TRIM51HP 0 genome.wustl.edu 37 11 55065005 55065005 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 55065005 55065005 C T SNP TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TRIM51HP HGNC ENSG00000166007 tier1 - - 188 0 0.00 239 48 16.72 CYP2C18 0 genome.wustl.edu 37 10 96495020 96495020 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 96495020 96495020 G A SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known missense c.1292 p.G431E 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV 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 - - 55 0 0.00 80 12 13.04 SIRPB2 0 genome.wustl.edu 37 20 1460499 1460499 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 20 1460499 1460499 G A SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known silent c.297 p.I99 0.147 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 - - 55 0 0.00 77 11 12.50 PCDHA1 0 genome.wustl.edu 37 5 140165938 140165938 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 140165938 140165938 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.63 p.L21 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 48 0 0.00 74 16 17.78 COL16A1 0 genome.wustl.edu 37 1 32124108 32124108 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 32124108 32124108 G A SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.4001 p.P1334L 0.998 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 tier1 - - 46 0 0.00 43 11 20.37 CCDC108 0 genome.wustl.edu 37 2 219903267 219903267 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 219903267 219903267 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.187 p.P63S 0.007 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 tier1 - - 33 0 0.00 34 4 10.53 ZNF518A 0 genome.wustl.edu 37 10 97922324 97922324 + R DEL T T - TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 97922324 97922324 T - DEL ZNF518A ENST00000534948 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 21 0 0.00 23 2 8.00 CDH16 0 genome.wustl.edu 37 16 66949219 66949219 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 66949219 66949219 G A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.487 p.L163F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 tier1 - - 40 0 0.00 45 17 27.42 CYP1A2 0 genome.wustl.edu 37 15 75042719 75042719 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 75042719 75042719 G A SNP CYP1A2 ENST00000343932 human ensembl 74_37 +1 known missense c.640 p.D214N 0.621 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 tier1 - - 46 0 0.00 67 13 16.25 ASTL 0 genome.wustl.edu 37 2 96799753 96799753 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 96799753 96799753 C T SNP ASTL ENST00000342380 human ensembl 74_37 -1 known missense c.288 p.M96I 0.341 smart_Peptidase_Metallo pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 tier1 - - 32 0 0.00 36 21 36.84 FAM25C 0 genome.wustl.edu 37 10 49199679 49199679 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 49199679 49199679 C T SNP FAM25C ENST00000479781 human ensembl 74_37 -1 known rna NULL NULL 0.017 - - - no_errors FAM25C HGNC ENSG00000188279 tier1 - - 109 0 0.00 139 20 12.58 ADAM28 0 genome.wustl.edu 37 8 24193162 24193162 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 24193162 24193162 G A SNP ADAM28 ENST00000437154 human ensembl 74_37 +1 known silent c.1575 p.R525 0.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 - - 51 0 0.00 56 9 13.85 OR51A2 0 genome.wustl.edu 37 11 4976386 4976386 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 4976386 4976386 G A SNP OR51A2 ENST00000380371 human ensembl 74_37 -1 known silent c.558 p.V186 0.750 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 OR51A2 HGNC ENSG00000205496 tier1 - - 57 0 0.00 60 15 20.00 ZNF729 0 genome.wustl.edu 37 19 22497754 22497754 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 22497754 22497754 G A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.1535 p.G512E 0.999 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 ZNF729 HGNC ENSG00000196350 tier1 - - 38 0 0.00 54 10 15.62 ADGB 0 genome.wustl.edu 37 6 147047248 147047248 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 147047248 147047248 C T SNP ADGB ENST00000397944 human ensembl 74_37 +1 known missense c.2267 p.S756F 0.283 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 tier1 - - 63 0 0.00 74 18 19.57 VWA3A 0 genome.wustl.edu 37 16 22157664 22157664 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 22157664 22157664 C T SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known silent c.2838 p.S946 0.976 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 tier1 - - 41 0 0.00 40 9 18.37 PHLDB2 0 genome.wustl.edu 37 3 111632168 111632168 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 111632168 111632168 G A SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known silent c.1338 p.E446 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 37 0 0.00 31 4 11.43 WDR49 0 genome.wustl.edu 37 3 167344937 167344937 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 167344937 167344937 C T SNP WDR49 ENST00000479765 human ensembl 74_37 -1 putative nonsense c.309 p.W103* 1.000 pfscan_EF_hand_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_EF_hand_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR49 HGNC ENSG00000174776 tier1 - - 50 0 0.00 44 11 20.00 PENK 0 genome.wustl.edu 37 8 57353921 57353921 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 57353921 57353921 G A SNP PENK ENST00000314922 human ensembl 74_37 -1 known silent c.714 p.A238 0.003 NULL pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 tier1 - - 63 0 0.00 57 9 13.64 PCDHB2 0 genome.wustl.edu 37 5 140474915 140474915 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 140474915 140474915 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.541 p.H181Y 0.022 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 PCDHB2 HGNC ENSG00000112852 tier1 - - 39 0 0.00 53 7 11.67 RIMS2 0 genome.wustl.edu 37 8 105260948 105260948 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 105260948 105260948 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3496 p.R1166C 1.000 NULL 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 - - 73 0 0.00 78 20 20.41 FYCO1 0 genome.wustl.edu 37 3 46014638 46014638 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 46014638 46014638 G A SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known nonsense c.481 p.Q161* 1.000 pfam_Run,pfscan_Run pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 tier1 - - 40 0 0.00 47 8 14.29 PCDHA8 0 genome.wustl.edu 37 5 140221013 140221013 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 140221013 140221013 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.107 p.P36L 0.019 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 93 0 0.00 102 23 18.40 DMRTC2 0 genome.wustl.edu 37 19 42351926 42351926 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 42351926 42351926 G A SNP DMRTC2 ENST00000269945 human ensembl 74_37 +1 known missense c.347 p.G116E 0.062 NULL pfam_DM_D-bd,superfamily_DM_D-bd,smart_DM_D-bd,pfscan_DM_D-bd - no_errors DMRTC2 HGNC ENSG00000142025 tier1 - - 34 0 0.00 45 11 19.64 AGAP8 0 genome.wustl.edu 37 10 51246208 51246208 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 51246208 51246208 G A SNP AGAP8 ENST00000425119 human ensembl 74_37 -1 known missense c.202 p.R68C 0.945 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP8 HGNC ENSG00000174194 tier1 - - 22 0 0.00 18 15 45.45 TTN 0 genome.wustl.edu 37 2 179594530 179594530 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 179594530 179594530 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.14718 p.Q4906 0.076 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,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 - - 31 0 0.00 45 7 13.46 SPTAN1 0 genome.wustl.edu 37 9 131355381 131355381 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 131355381 131355381 C T SNP SPTAN1 ENST00000475367 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SPTAN1 HGNC ENSG00000197694 tier1 - - 36 0 0.00 18 12 40.00 AQP12B 0 genome.wustl.edu 37 2 241622024 241622024 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 241622024 241622024 G A SNP AQP12B ENST00000407834 human ensembl 74_37 -1 known silent c.231 p.F77 1.000 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_MIP pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 tier1 - - 97 0 0.00 134 26 16.25 RNFT2 0 genome.wustl.edu 37 12 117217132 117217132 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 117217132 117217132 C T SNP RNFT2 ENST00000257575 human ensembl 74_37 +1 known silent c.861 p.I287 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT2 HGNC ENSG00000135119 tier1 - - 59 0 0.00 70 20 22.22 FCRL1 0 genome.wustl.edu 37 1 157771909 157771909 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 157771909 157771909 G A SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known missense c.682 p.H228Y 0.947 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 tier1 - - 33 0 0.00 26 11 29.73 C12orf43 0 genome.wustl.edu 37 12 121442845 121442845 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 121442845 121442845 G A SNP C12orf43 ENST00000288757 human ensembl 74_37 -1 known missense c.413 p.S138F 0.031 NULL NULL - no_errors C12orf43 HGNC ENSG00000157895 tier1 - - 147 0 0.00 132 32 19.51 MIR521-1 0 genome.wustl.edu 37 19 54251935 54251935 + R SNP A A T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 54251935 54251935 A T SNP MIR521-1 ENST00000384902 human ensembl 74_37 +1 known rna NULL NULL 0.655 - - - no_errors MIR521-1 HGNC ENSG00000207634 tier1 - - 48 0 0.00 53 14 20.90 PTPRS 0 genome.wustl.edu 37 19 5244376 5244376 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 5244376 5244376 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.1109 p.S370F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 39 0 0.00 54 14 20.59 FREM3 0 genome.wustl.edu 37 4 144617710 144617710 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 144617710 144617710 C T SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.4119 p.M1373I 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 41 0 0.00 49 6 10.91 OR2AJ1 0 genome.wustl.edu 37 1 248097772 248097772 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 248097772 248097772 G A SNP OR2AJ1 ENST00000318244 human ensembl 74_37 +1 known silent c.702 p.R234 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 OR2AJ1 HGNC ENSG00000177275 tier1 - - 42 0 0.00 53 13 19.70 ZRANB3 0 genome.wustl.edu 37 2 135975070 135975070 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 135975070 135975070 G A SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known silent c.2460 p.I820 0.942 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 tier1 - - 45 0 0.00 75 11 12.79 SP140 0 genome.wustl.edu 37 2 231103060 231103060 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 231103060 231103060 C T SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.370 p.P124S 0.529 pfam_Sp100 pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 tier1 - - 50 0 0.00 34 16 32.00 EPHA4 0 genome.wustl.edu 37 2 222290846 222290846 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 222290846 222290846 C T SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.2863 p.G955S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM 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 - - 37 0 0.00 30 4 11.76 PENK 0 genome.wustl.edu 37 8 57353922 57353922 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 57353922 57353922 G A SNP PENK ENST00000314922 human ensembl 74_37 -1 known missense c.713 p.A238V 0.850 NULL pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 tier1 - - 63 0 0.00 55 9 14.06 REG3G 0 genome.wustl.edu 37 2 79254218 79254218 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 79254218 79254218 G A SNP REG3G ENST00000272324 human ensembl 74_37 +1 known missense c.254 p.G85E 0.040 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 - no_errors REG3G HGNC ENSG00000143954 tier1 - - 56 0 0.00 45 16 26.23 SLC17A6 0 genome.wustl.edu 37 11 22399270 22399270 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 22399270 22399270 G A SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.1733 p.R578Q 0.998 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 26 0 0.00 20 5 20.00 SEPT1 0 genome.wustl.edu 37 16 30392489 30392489 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 30392489 30392489 C T SNP SEPT1 ENST00000321367 human ensembl 74_37 -1 known missense c.658 p.D220N 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 SEPT1 HGNC ENSG00000180096 tier1 - - 46 0 0.00 70 15 17.65 TNFRSF8 0 genome.wustl.edu 37 1 12183373 12183373 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 12183373 12183373 C T SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known missense c.979 p.P327S 0.004 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 - - 161 1 0.61 160 21 11.60 GPRIN1 0 genome.wustl.edu 37 5 176025456 176025456 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 176025456 176025456 G A SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known silent c.1380 p.S460 0.000 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 tier1 - - 24 0 0.00 29 4 12.12 LOXL4 0 genome.wustl.edu 37 10 100022501 100022501 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 100022501 100022501 C T SNP LOXL4 ENST00000260702 human ensembl 74_37 -1 known silent c.276 p.E92 0.997 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL4 HGNC ENSG00000138131 tier1 - - 89 0 0.00 105 20 16.00 SDK1 0 genome.wustl.edu 37 7 4304978 4304978 + Missense_Mutation SNP G G C TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 4304978 4304978 G C SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.6604 p.A2202P 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,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 SDK1 HGNC ENSG00000146555 tier1 - - 55 0 0.00 54 15 21.74 IL2RB 0 genome.wustl.edu 37 22 37532306 37532306 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 22 37532306 37532306 G A SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known missense c.665 p.P222L 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 tier1 - - 106 0 0.00 110 32 22.54 OR10K1 0 genome.wustl.edu 37 1 158435387 158435387 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 158435387 158435387 C T SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known silent c.36 p.F12 0.858 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 tier1 rs200159566 GMAF=0.0005 58 0 0.00 75 8 9.52 PMCHL1 0 genome.wustl.edu 37 5 22142502 22142502 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 22142502 22142502 G A SNP PMCHL1 ENST00000418902 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors PMCHL1 HGNC ENSG00000168967 tier1 - - 59 0 0.00 63 12 16.00 C9 0 genome.wustl.edu 37 5 39315915 39315915 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 39315915 39315915 C T SNP C9 ENST00000263408 human ensembl 74_37 -1 known missense c.832 p.E278K 0.011 pfam_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 tier1 - - 39 0 0.00 57 8 12.31 DLGAP3 0 genome.wustl.edu 37 1 35370254 35370254 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 35370254 35370254 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.731 p.S244N 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 tier1 - - 63 0 0.00 65 17 20.73 ETNK2 0 genome.wustl.edu 37 1 204115825 204115825 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 204115825 204115825 G A SNP ETNK2 ENST00000367201 human ensembl 74_37 -1 known missense c.586 p.L196F 0.999 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors ETNK2 HGNC ENSG00000143845 tier1 - - 35 0 0.00 41 9 18.00 LINC00661 0 genome.wustl.edu 37 19 16136399 16136399 + R SNP T T C TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 16136399 16136399 T C SNP LINC00661 ENST00000549354 human ensembl 74_37 +1 known rna NULL NULL 0.072 - - - no_errors LINC00661 HGNC ENSG00000205396 tier1 - - 73 0 0.00 64 25 28.09 ADCY1 0 genome.wustl.edu 37 7 45697426 45697426 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 45697426 45697426 G A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.1249 p.D417N 0.998 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 tier1 - - 68 0 0.00 84 15 15.15 RAB4A 0 genome.wustl.edu 37 1 229422292 229422292 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 229422292 229422292 C T SNP RAB4A ENST00000366690 human ensembl 74_37 +1 known missense c.91 p.H31Y 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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 RAB4A HGNC ENSG00000168118 tier1 - - 38 0 0.00 62 9 12.68 PTMAP5 0 genome.wustl.edu 37 13 82264599 82264599 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 13 82264599 82264599 C T SNP PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTMAP5 HGNC ENSG00000214182 tier1 - - 41 0 0.00 45 12 21.05 TCL6 0 genome.wustl.edu 37 14 96129896 96129896 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 96129896 96129896 C T SNP TCL6 ENST00000352367 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TCL6 HGNC ENSG00000187621 tier1 - - 74 0 0.00 84 25 22.94 ULK1 0 genome.wustl.edu 37 12 132402037 132402037 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 132402037 132402037 C T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.2264 p.T755I 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,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 ULK1 HGNC ENSG00000177169 tier1 - - 74 0 0.00 86 12 12.24 ENSG00000206532 0 genome.wustl.edu 37 3 110612126 110612126 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 110612126 110612126 C T SNP ENSG00000206532 ENST00000383686 human ensembl 74_37 -1 known silent c.84 p.R28 0.004 NULL NULL - no_errors RP11-553A10.1 Clone_based_vega_gene ENSG00000206532 tier1 - - 99 0 0.00 99 33 25.00 RELA 0 genome.wustl.edu 37 11 65429171 65429171 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 65429171 65429171 G A SNP RELA ENST00000406246 human ensembl 74_37 -1 known missense c.322 p.R108C 1.000 pfam_RHD,superfamily_p53-like_TF_D-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 tier1 - - 51 0 0.00 42 11 20.75 ENSG00000221379 0 genome.wustl.edu 37 15 31093559 31093559 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 31093559 31093559 G A SNP ENSG00000221379 ENST00000408452 human ensembl 74_37 +1 novel rna NULL NULL 0.735 - - - no_errors AC004460.1 Clone_based_ensembl_gene ENSG00000221379 tier1 - - 169 0 0.00 186 37 16.59 SLC10A6 0 genome.wustl.edu 37 4 87744874 87744874 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 87744874 87744874 G A SNP SLC10A6 ENST00000273905 human ensembl 74_37 -1 known silent c.1101 p.L367 0.000 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 tier1 - - 47 0 0.00 69 16 18.82 ABCF3 0 genome.wustl.edu 37 3 183909015 183909015 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 183909015 183909015 C T SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known missense c.1541 p.S514F 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 tier1 - - 55 0 0.00 94 20 17.54 KHSRP 0 genome.wustl.edu 37 19 6416548 6416548 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 6416548 6416548 G A SNP KHSRP ENST00000398148 human ensembl 74_37 -1 known missense c.1441 p.P481S 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC ENSG00000088247 tier1 - - 62 0 0.00 73 24 24.74 DSTNP2 0 genome.wustl.edu 37 12 6994123 6994123 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 6994123 6994123 C T SNP DSTNP2 ENST00000602547 human ensembl 74_37 +1 known rna NULL NULL 0.765 - - - no_errors DSTNP2 HGNC ENSG00000248593 tier1 - - 36 0 0.00 42 4 8.70 SEC31B 0 genome.wustl.edu 37 10 102275970 102275970 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 102275970 102275970 G A SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.86 p.S29F 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 tier1 - - 46 0 0.00 38 7 15.56 CSMD2 0 genome.wustl.edu 37 1 34058088 34058088 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 34058088 34058088 C T SNP CSMD2 ENST00000373380 human ensembl 74_37 -1 known silent c.3477 p.G1159 0.013 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 CSMD2 HGNC ENSG00000121904 tier1 - - 37 0 0.00 47 10 17.54 TRIAP1 0 genome.wustl.edu 37 12 120882635 120882635 + R SNP A A T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 120882635 120882635 A T SNP TRIAP1 ENST00000302432 human ensembl 74_37 -1 putative rna NULL NULL 0.370 - - - no_errors TRIAP1 HGNC ENSG00000170855 tier1 - - 47 0 0.00 49 17 25.76 RAB11FIP4 0 genome.wustl.edu 37 17 29844724 29844724 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 29844724 29844724 C T SNP RAB11FIP4 ENST00000325874 human ensembl 74_37 +1 known missense c.392 p.P131L 0.313 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP4 HGNC ENSG00000131242 tier1 - - 64 0 0.00 69 18 20.69 MAGEB17 0 genome.wustl.edu 37 X 16189228 16189228 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 16189228 16189228 G A SNP MAGEB17 ENST00000400003 human ensembl 74_37 +1 known silent c.723 p.E241 0.811 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB17 HGNC ENSG00000182798 tier1 - - 23 0 0.00 24 10 29.41 OR5B2 0 genome.wustl.edu 37 11 58190110 58190110 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 58190110 58190110 G A SNP OR5B2 ENST00000302581 human ensembl 74_37 -1 known missense c.625 p.L209F 0.004 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 OR5B2 HGNC ENSG00000172365 tier1 - - 26 0 0.00 29 7 19.44 ZMYM3 0 genome.wustl.edu 37 X 70462039 70462039 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 70462039 70462039 G A SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known silent c.3789 p.V1263 0.115 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 58 0 0.00 45 26 36.62 BEST2 0 genome.wustl.edu 37 19 12867020 12867020 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 12867020 12867020 G A SNP BEST2 ENST00000042931 human ensembl 74_37 +1 known nonsense c.1014 p.W338* 1.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 tier1 - - 36 0 0.00 38 8 17.39 ENSG00000267943 0 genome.wustl.edu 37 19 53512688 53512688 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 53512688 53512688 G A SNP ENSG00000267943 ENST00000596769 human ensembl 74_37 +1 known rna NULL NULL 0.595 - - - no_errors CTD-2620I22.3 Clone_based_vega_gene ENSG00000267943 tier1 - - 45 0 0.00 53 6 10.17 ADAM7 0 genome.wustl.edu 37 8 24364997 24364997 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 24364997 24364997 C T SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.2213 p.P738L 0.936 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 ADAM7 HGNC ENSG00000069206 tier1 rs80271195 GMAF=0 41 0 0.00 49 9 15.52 CEACAM4 0 genome.wustl.edu 37 19 42125953 42125953 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 42125953 42125953 C T SNP CEACAM4 ENST00000600925 human ensembl 74_37 -1 putative silent c.753 p.R251 0.001 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors CEACAM4 HGNC ENSG00000105352 tier1 - - 39 0 0.00 71 13 15.48 FBLN5 0 genome.wustl.edu 37 14 92403475 92403475 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 92403475 92403475 C T SNP FBLN5 ENST00000342058 human ensembl 74_37 -1 known silent c.195 p.G65 0.978 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBLN5 HGNC ENSG00000140092 tier1 - - 57 0 0.00 77 12 13.48 RSEL 0 genome.wustl.edu 37 1 182555704 182555704 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 182555704 182555704 G A SNP RSEL ENST00000367559 human ensembl 74_37 -1 known missense c.238 p.R80C 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RSEL HGNC ENSG00000135828 tier1 - - 38 0 0.00 38 6 13.64 ENSG00000237265 0 genome.wustl.edu 37 X 70884813 70884813 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 70884813 70884813 G A SNP ENSG00000237265 ENST00000422194 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors RP11-402P6.9 Clone_based_vega_gene ENSG00000237265 tier1 - - 76 0 0.00 54 32 37.21 ABCA1 0 genome.wustl.edu 37 9 107555470 107555470 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 107555470 107555470 C T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.5618 p.R1873K 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 48 0 0.00 40 25 38.46 TNNT3 0 genome.wustl.edu 37 11 1955791 1955791 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 1955791 1955791 G A SNP TNNT3 ENST00000397301 human ensembl 74_37 +1 known missense c.529 p.G177S 1.000 pfam_Troponin pfam_Troponin - no_errors TNNT3 HGNC ENSG00000130595 tier1 - - 32 0 0.00 48 9 15.79 GZMK 0 genome.wustl.edu 37 5 54327291 54327291 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 54327291 54327291 G A SNP GZMK ENST00000231009 human ensembl 74_37 +1 known missense c.463 p.G155R 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 tier1 - - 50 0 0.00 58 18 23.68 PTPN11 0 genome.wustl.edu 37 12 112888139 112888139 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 112888139 112888139 C T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.155 p.T52I 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 - - 31 0 0.00 49 5 9.26 C11orf42 0 genome.wustl.edu 37 11 6232180 6232180 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 6232180 6232180 G A SNP C11orf42 ENST00000316375 human ensembl 74_37 +1 known missense c.910 p.A304T 1.000 NULL NULL - no_errors C11orf42 HGNC ENSG00000180878 tier1 - - 42 0 0.00 53 11 17.19 CEP170P1 0 genome.wustl.edu 37 4 119461423 119461423 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 119461423 119461423 C T SNP CEP170P1 ENST00000412784 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CEP170P1 HGNC ENSG00000154608 tier1 - - 66 0 0.00 106 24 18.46 TUBB 0 genome.wustl.edu 37 6 30692042 30692042 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 30692042 30692042 G A SNP TUBB ENST00000327892 human ensembl 74_37 +1 known silent c.1203 p.E401 1.000 superfamily_Tub_FtsZ_C,prints_Delta_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 TUBB HGNC ENSG00000196230 tier1 - - 64 0 0.00 110 15 12.00 TMIE 0 genome.wustl.edu 37 3 46751105 46751105 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 46751105 46751105 G A SNP TMIE ENST00000326431 human ensembl 74_37 +1 known missense c.398 p.S133N 0.981 NULL NULL - no_errors TMIE HGNC ENSG00000181585 tier1 - - 32 0 0.00 37 14 27.45 DMBT1 0 genome.wustl.edu 37 10 124389895 124389895 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 124389895 124389895 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.5527 p.D1843N 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 42 0 0.00 38 10 20.83 CCHCR1 0 genome.wustl.edu 37 6 31113065 31113065 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 31113065 31113065 G A SNP CCHCR1 ENST00000396268 human ensembl 74_37 -1 known missense c.1754 p.P585L 0.831 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 tier1 - - 61 0 0.00 62 10 13.89 TRIM67 0 genome.wustl.edu 37 1 231355688 231355688 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 231355688 231355688 C T SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.2261 p.S754F 0.000 smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 - no_errors TRIM67 HGNC ENSG00000119283 tier1 - - 61 0 0.00 77 15 16.30 C6 0 genome.wustl.edu 37 5 41176764 41176764 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 41176764 41176764 C T SNP C6 ENST00000263413 human ensembl 74_37 -1 known silent c.981 p.T327 1.000 pfam_MACPF,smart_MACPF 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 rs146851023 - 39 0 0.00 34 11 24.44 SCN10A 0 genome.wustl.edu 37 3 38783840 38783840 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 38783840 38783840 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.2048 p.A683V 1.000 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 - - 30 0 0.00 28 6 17.65 DMRT2 0 genome.wustl.edu 37 9 1056594 1056594 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 1056594 1056594 C T SNP DMRT2 ENST00000302441 human ensembl 74_37 +1 known missense c.1007 p.P336L 1.000 NULL pfam_DM_D-bd,superfamily_DM_D-bd,smart_DM_D-bd,pfscan_DM_D-bd - no_errors DMRT2 HGNC ENSG00000173253 tier1 - - 37 0 0.00 23 13 36.11 EP400NL 0 genome.wustl.edu 37 12 132589042 132589042 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 132589042 132589042 C T SNP EP400NL ENST00000376625 human ensembl 74_37 +1 known silent c.477 p.F159 0.999 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 tier1 - - 70 0 0.00 69 23 25.00 GRK7 0 genome.wustl.edu 37 3 141499263 141499263 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 141499263 141499263 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known silent c.660 p.K220 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_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 tier1 - - 33 0 0.00 39 13 25.00 PRSS41 0 genome.wustl.edu 37 16 2855019 2855019 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 2855019 2855019 C T SNP PRSS41 ENST00000399677 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors PRSS41 HGNC ENSG00000215148 tier1 - - 51 0 0.00 42 12 22.22 ARHGEF38 0 genome.wustl.edu 37 4 106588413 106588413 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 106588413 106588413 G A SNP ARHGEF38 ENST00000420470 human ensembl 74_37 +1 putative missense c.1817 p.G606E 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 tier1 - - 32 0 0.00 46 8 14.81 ENSG00000221137 0 genome.wustl.edu 37 8 87670098 87670098 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 87670098 87670098 C T SNP ENSG00000221137 ENST00000408210 human ensembl 74_37 -1 novel rna NULL NULL 1.000 - - - no_errors AC013751.1 Clone_based_ensembl_gene ENSG00000221137 tier1 - - 40 0 0.00 58 18 23.68 LILRA3 0 genome.wustl.edu 37 19 54802114 54802114 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 54802114 54802114 G A SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known silent c.1074 p.T358 0.026 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 tier1 - - 82 0 0.00 94 21 18.26 COL4A6 0 genome.wustl.edu 37 X 107424153 107424153 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 107424153 107424153 C T SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.2000 p.G667E 0.996 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 tier1 - - 32 0 0.00 33 22 40.00 KRT75 0 genome.wustl.edu 37 12 52826886 52826886 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 52826886 52826886 C T SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.649 p.E217K 0.998 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 tier1 - - 31 0 0.00 39 10 20.41 TJP3 0 genome.wustl.edu 37 19 3747891 3747891 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 3747891 3747891 G A SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.2521 p.E841K 1.000 prints_ZonOcculdens pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 tier1 rs144472063 GMAF=0.0005 165 1 0.60 139 31 18.24 ABCC12 0 genome.wustl.edu 37 16 48145570 48145570 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 48145570 48145570 G A SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.2128 p.P710S 1.000 NULL 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 - - 60 0 0.00 57 7 10.94 ATOH8 0 genome.wustl.edu 37 2 86014817 86014817 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 86014817 86014817 C T SNP ATOH8 ENST00000469442 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATOH8 HGNC ENSG00000168874 tier1 - - 36 0 0.00 25 4 13.79 LRRD1 0 genome.wustl.edu 37 7 91793031 91793031 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 91793031 91793031 C T SNP LRRD1 ENST00000430130 human ensembl 74_37 -1 known missense c.1486 p.G496R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death_domain - no_errors LRRD1 HGNC ENSG00000240720 tier1 - - 47 0 0.00 38 6 13.64 RTL1 0 genome.wustl.edu 37 14 101350316 101350316 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 101350316 101350316 G A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known silent c.810 p.F270 1.000 pfam_Retrotrans_gag_dom pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 38 0 0.00 26 9 25.71 DMRT3 0 genome.wustl.edu 37 9 990189 990189 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 990189 990189 G A SNP DMRT3 ENST00000190165 human ensembl 74_37 +1 known silent c.603 p.E201 0.909 NULL pfam_DM_D-bd,pfam_DMA,superfamily_DM_D-bd,superfamily_UBA-like,smart_DM_D-bd,pfscan_DM_D-bd - no_errors DMRT3 HGNC ENSG00000064218 tier1 - - 37 0 0.00 30 15 33.33 HNRNPM 0 genome.wustl.edu 37 19 8538588 8538588 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 8538588 8538588 G A SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.1038 p.M346I 1.000 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 tier1 rs140407642 - 23 0 0.00 35 8 18.60 GBP2 0 genome.wustl.edu 37 1 89582835 89582835 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 89582835 89582835 G A SNP GBP2 ENST00000370466 human ensembl 74_37 -1 known silent c.708 p.F236 0.954 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 - - 41 0 0.00 58 7 10.77 GRIN2B 0 genome.wustl.edu 37 12 13906442 13906442 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 13906442 13906442 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.819 p.F273 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 tier1 - - 24 0 0.00 34 9 20.93 PTPRB 0 genome.wustl.edu 37 12 70988263 70988263 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 70988263 70988263 C T SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known nonsense c.1500 p.W500* 0.765 pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 tier1 - - 72 0 0.00 77 13 14.44 EFCAB6 0 genome.wustl.edu 37 22 44079699 44079699 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 22 44079699 44079699 G A SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.1179 p.I393 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 tier1 - - 62 0 0.00 41 12 22.64 CGNL1 0 genome.wustl.edu 37 15 57821011 57821011 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 57821011 57821011 G A SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.3199 p.E1067K 1.000 pfam_Myosin_tail pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 tier1 - - 40 0 0.00 31 5 13.89 WDR72 0 genome.wustl.edu 37 15 53994475 53994475 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 53994475 53994475 C T SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known silent c.1425 p.S475 0.786 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 tier1 - - 70 0 0.00 71 15 17.44 DH7 0 genome.wustl.edu 37 2 196729166 196729166 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 196729166 196729166 C T SNP DH7 ENST00000312428 human ensembl 74_37 -1 known missense c.7213 p.E2405K 0.038 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DH7 HGNC ENSG00000118997 tier1 - - 39 0 0.00 39 9 18.75 GRM8 0 genome.wustl.edu 37 7 126078688 126078688 + R SNP A A T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 126078688 126078688 A T SNP GRM8 ENST00000489939 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 45 0 0.00 48 11 18.64 GRIK1 0 genome.wustl.edu 37 21 30959769 30959769 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 21 30959769 30959769 G A SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known silent c.1716 p.F572 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 GRIK1 HGNC ENSG00000171189 tier1 - - 44 0 0.00 49 5 9.26 ENSG00000256982 0 genome.wustl.edu 37 16 89114070 89114070 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 89114070 89114070 C T SNP ENSG00000256982 ENST00000537498 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2555A7.2 Clone_based_vega_gene ENSG00000256982 tier1 - - 53 0 0.00 67 22 24.72 RSF1 0 genome.wustl.edu 37 11 77378474 77378474 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 77378474 77378474 G A SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known nonsense c.3814 p.R1272* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 tier1 - - 45 0 0.00 49 10 16.95 GRID2 0 genome.wustl.edu 37 4 94436461 94436461 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 94436461 94436461 C T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2092 p.P698S 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 43 0 0.00 68 13 16.05 ICOSLG 0 genome.wustl.edu 37 21 45649640 45649641 + In_Frame_Ins INS - - ACG TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 21 45649640 45649641 - ACG INS ICOSLG ENST00000400379 human ensembl 74_37 -1 putative in_frame_ins c.1195_1194 p.398in_frame_insR 0.000:0.001 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors ICOSLG HGNC ENSG00000160223 tier1 17 0 0.00 16 5 23.81 HCFC1 0 genome.wustl.edu 37 X 153222933 153222933 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 153222933 153222933 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.2185 p.D729N 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 tier1 - - 63 0 0.00 40 23 36.51 CYP3A4 0 genome.wustl.edu 37 7 99358558 99358558 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 99358558 99358558 G A SNP CYP3A4 ENST00000336411 human ensembl 74_37 -1 known missense c.1300 p.P434S 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A4 HGNC ENSG00000160868 tier1 - - 82 0 0.00 98 20 16.95 RPS5 0 genome.wustl.edu 37 19 58904510 58904510 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 58904510 58904510 C T SNP RPS5 ENST00000196551 human ensembl 74_37 +1 known silent c.276 p.I92 0.899 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC ENSG00000083845 tier1 - - 35 0 0.00 44 8 15.38 ESAM 0 genome.wustl.edu 37 11 124626140 124626140 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 124626140 124626140 C T SNP ESAM ENST00000278927 human ensembl 74_37 -1 known silent c.570 p.Q190 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ESAM HGNC ENSG00000149564 tier1 - - 51 0 0.00 86 17 16.50 SPTBN1 0 genome.wustl.edu 37 2 54839468 54839468 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 54839468 54839468 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.471 p.F157 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain 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 - - 43 0 0.00 62 6 8.82 CUL7 0 genome.wustl.edu 37 6 43019973 43019973 + Missense_Mutation SNP A A G TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 43019973 43019973 A G SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.710 p.I237T 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 tier1 - - 40 0 0.00 50 9 15.25 ZNF331 0 genome.wustl.edu 37 19 54080238 54080238 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 54080238 54080238 C T SNP ZNF331 ENST00000253144 human ensembl 74_37 +1 known missense c.424 p.R142C 0.026 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 ZNF331 HGNC ENSG00000130844 tier1 - - 33 0 0.00 44 13 22.81 OR2AP1 0 genome.wustl.edu 37 12 55968256 55968256 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 55968256 55968256 G A SNP OR2AP1 ENST00000321688 human ensembl 74_37 +1 known missense c.58 p.E20K 0.000 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AP1 HGNC ENSG00000179615 tier1 - - 54 0 0.00 75 10 11.76 FAT1 0 genome.wustl.edu 37 4 187541765 187541765 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 187541765 187541765 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.5975 p.S1992F 1.000 pfam_Cadherin,superfamily_Cadherin-like,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 - - 44 0 0.00 59 16 21.33 CCDC171 0 genome.wustl.edu 37 9 15578931 15578931 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 15578931 15578931 C T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known silent c.262 p.L88 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 tier1 - - 76 0 0.00 53 21 28.38 PSG5 0 genome.wustl.edu 37 19 43680253 43680253 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 43680253 43680253 C T SNP PSG5 ENST00000342951 human ensembl 74_37 -1 known missense c.478 p.E160K 0.024 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 tier1 - - 147 0 0.00 158 34 17.71 DCAF8L2 0 genome.wustl.edu 37 X 27766187 27766187 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 27766187 27766187 G A SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known missense c.1175 p.R392K 0.979 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 tier1 - - 23 0 0.00 18 12 40.00 DLAT 0 genome.wustl.edu 37 11 111904147 111904147 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 111904147 111904147 C T SNP DLAT ENST00000280346 human ensembl 74_37 +1 known missense c.680 p.S227F 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_LAT1 pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 tier1 - - 51 0 0.00 62 11 15.07 PDE6C 0 genome.wustl.edu 37 10 95422806 95422806 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 95422806 95422806 G A SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known missense c.2389 p.E797K 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 tier1 - - 48 0 0.00 49 12 19.67 OGDHL 0 genome.wustl.edu 37 10 50952755 50952755 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 50952755 50952755 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.1673 p.G558D 1.000 pfam_DH_E1,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 - - 41 0 0.00 55 6 9.84 PRR23C 0 genome.wustl.edu 37 3 138762997 138762997 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 138762997 138762997 C T SNP PRR23C ENST00000413199 human ensembl 74_37 -1 known missense c.466 p.E156K 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23C HGNC ENSG00000233701 tier1 - - 50 0 0.00 57 12 17.39 MTTP 0 genome.wustl.edu 37 4 100515993 100515993 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 100515993 100515993 C T SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.862 p.P288S 0.951 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 tier1 - - 50 0 0.00 61 11 15.28 ZER1 0 genome.wustl.edu 37 9 131516096 131516096 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 131516096 131516096 G A SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.301 p.R101C 0.991 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 tier1 - - 49 0 0.00 33 24 42.11 KIAA0195 0 genome.wustl.edu 37 17 73494563 73494563 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 73494563 73494563 C T SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.3677 p.A1226V 1.000 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 tier1 - - 31 0 0.00 27 4 12.90 SGK223 0 genome.wustl.edu 37 8 8235440 8235440 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 8235440 8235440 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.479 p.T160I 0.990 NULL 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 SGK223 Uniprot_gn ENSG00000182319 tier1 - - 57 0 0.00 69 15 17.86 SPTA1 0 genome.wustl.edu 37 1 158612247 158612247 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 158612247 158612247 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4691 p.S1564F 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 44 0 0.00 60 13 17.81 TSPAN10 0 genome.wustl.edu 37 17 79612351 79612351 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 79612351 79612351 C T SNP TSPAN10 ENST00000328585 human ensembl 74_37 +1 known silent c.370 p.L124 0.084 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 tier1 - - 103 0 0.00 161 41 20.30 KIAA0232 0 genome.wustl.edu 37 4 6864253 6864253 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 6864253 6864253 C T SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.2144 p.S715F 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 tier1 - - 28 0 0.00 29 4 12.12 DH6 0 genome.wustl.edu 37 2 84784863 84784863 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 84784863 84784863 G A SNP DH6 ENST00000237449 human ensembl 74_37 +1 known missense c.1607 p.G536D 1.000 NULL 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 - - 60 0 0.00 83 15 15.31 C7 0 genome.wustl.edu 37 5 40947843 40947843 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 40947843 40947843 G A SNP C7 ENST00000313164 human ensembl 74_37 +1 known missense c.878 p.R293Q 1.000 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,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,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 tier1 - - 50 0 0.00 42 13 23.64 NCF4 0 genome.wustl.edu 37 22 37273721 37273721 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 22 37273721 37273721 G A SNP NCF4 ENST00000248899 human ensembl 74_37 +1 known silent c.876 p.G292 0.952 pfam_OPR_PB1,smart_OPR_PB1 pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 tier1 - - 59 0 0.00 70 12 14.63 FSD2 0 genome.wustl.edu 37 15 83430979 83430979 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 83430979 83430979 C T SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known nonsense c.1872 p.W624* 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 tier1 - - 26 0 0.00 29 12 29.27 GOLGA6L6 0 genome.wustl.edu 37 15 20739961 20739961 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 20739961 20739961 C T SNP GOLGA6L6 ENST00000427390 human ensembl 74_37 -1 known missense c.1789 p.E597K 0.879 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 tier1 - - 47 0 0.00 48 25 34.25 ASTN1 0 genome.wustl.edu 37 1 176913033 176913033 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 176913033 176913033 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.2395 p.L799 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 51 0 0.00 40 12 23.08 HSP90AB1 0 genome.wustl.edu 37 6 44218310 44218310 + Missense_Mutation SNP G G T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 44218310 44218310 G T SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.931 p.D311Y 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 tier1 - - 30 0 0.00 32 9 21.95 SCN2A 0 genome.wustl.edu 37 2 166179976 166179976 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 166179976 166179976 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.1982 p.S661F 0.992 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 19 0 0.00 12 5 29.41 CCDC114 0 genome.wustl.edu 37 19 48801542 48801542 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 48801542 48801542 G A SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known silent c.1185 p.L395 0.996 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 tier1 - - 45 0 0.00 52 11 17.46 CALCRL 0 genome.wustl.edu 37 2 188247945 188247945 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 188247945 188247945 C T SNP CALCRL ENST00000392370 human ensembl 74_37 -1 known missense c.139 p.E47K 1.000 pfscan_GPCR_2_extracellular_dom,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,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_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 tier1 - - 43 0 0.00 41 10 19.61 COL19A1 0 genome.wustl.edu 37 6 70637854 70637854 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 70637854 70637854 G A SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.320 p.R107Q 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 65 0 0.00 58 17 22.67 ABTB2 0 genome.wustl.edu 37 11 34180930 34180930 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 34180930 34180930 G A SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known silent c.2610 p.F870 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 tier1 - - 30 0 0.00 23 6 20.69 CHIAP2 0 genome.wustl.edu 37 1 111824826 111824827 + R INS - - AA TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 111824826 111824827 - AA INS CHIAP2 ENST00000369743 human ensembl 74_37 +1 known rna NULL NULL 0.013:0.029 - - - no_errors CHIAP2 HGNC ENSG00000203878 tier1 12 0 0.00 20 3 13.04 GON4L 0 genome.wustl.edu 37 1 155723175 155723175 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 155723175 155723175 C T SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.5662 p.E1888K 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 - - 40 0 0.00 36 12 24.49 HAUS4 0 genome.wustl.edu 37 14 23421835 23421835 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 23421835 23421835 G A SNP HAUS4 ENST00000206474 human ensembl 74_37 -1 known missense c.113 p.P38L 0.991 NULL NULL - no_errors HAUS4 HGNC ENSG00000092036 tier1 - - 32 0 0.00 37 8 17.78 EFCAB5 0 genome.wustl.edu 37 17 28405481 28405481 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 28405481 28405481 C T SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known silent c.2986 p.L996 0.263 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 tier1 - - 51 0 0.00 55 11 16.67 SHISA3 0 genome.wustl.edu 37 4 42403081 42403081 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 42403081 42403081 C T SNP SHISA3 ENST00000319234 human ensembl 74_37 +1 known silent c.330 p.I110 0.997 NULL NULL - no_errors SHISA3 HGNC ENSG00000178343 tier1 - - 84 0 0.00 87 16 15.53 PRAMEF12 0 genome.wustl.edu 37 1 12835790 12835790 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 12835790 12835790 G A SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.392 p.R131Q 0.000 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 tier1 - - 87 0 0.00 105 25 19.08 RPN2 0 genome.wustl.edu 37 20 35826834 35826834 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 20 35826834 35826834 C T SNP RPN2 ENST00000237530 human ensembl 74_37 +1 known missense c.242 p.P81L 1.000 pfam_Swp1 pfam_Swp1 - no_errors RPN2 HGNC ENSG00000118705 tier1 - - 30 0 0.00 25 10 28.57 PI16 0 genome.wustl.edu 37 6 36931377 36931377 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 36931377 36931377 C T SNP PI16 ENST00000373674 human ensembl 74_37 +1 known missense c.1259 p.S420L 0.901 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 tier1 - - 14 0 0.00 15 7 31.82 GOLPH3 0 genome.wustl.edu 37 5 32126496 32126496 + Missense_Mutation SNP A A T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 32126496 32126496 A T SNP GOLPH3 ENST00000265070 human ensembl 74_37 -1 known missense c.719 p.I240N 0.999 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3 HGNC ENSG00000113384 tier1 - - 123 0 0.00 143 22 13.33 PLCZ1 0 genome.wustl.edu 37 12 18852761 18852761 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 18852761 18852761 C T SNP PLCZ1 ENST00000266505 human ensembl 74_37 -1 known missense c.1141 p.E381K 0.996 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_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 - - 104 0 0.00 122 28 18.67 NFAT5 0 genome.wustl.edu 37 16 69681482 69681482 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 69681482 69681482 G A SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.805 p.G269R 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 - - 34 0 0.00 40 6 13.04 YLPM1 0 genome.wustl.edu 37 14 75266069 75266069 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 75266069 75266069 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known nonsense c.4069 p.R1357* 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 tier1 - - 24 0 0.00 27 8 22.86 KCNT2 0 genome.wustl.edu 37 1 196438156 196438156 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 196438156 196438156 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.427 p.E143K 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 91 0 0.00 121 21 14.79 CMKLR1 0 genome.wustl.edu 37 12 108685801 108685801 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 108685801 108685801 G A SNP CMKLR1 ENST00000312143 human ensembl 74_37 -1 known silent c.939 p.P313 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 tier1 - - 34 0 0.00 49 10 16.95 GPR115 0 genome.wustl.edu 37 6 47681807 47681807 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 47681807 47681807 C T SNP GPR115 ENST00000371220 human ensembl 74_37 +1 known missense c.997 p.P333S 0.989 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 tier1 - - 27 0 0.00 33 11 25.00 SLC12A7 0 genome.wustl.edu 37 5 1081840 1081840 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 1081840 1081840 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1149 p.Y383 0.001 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 rs199523332 - 82 0 0.00 68 14 17.07 ZSCAN18 0 genome.wustl.edu 37 19 58596421 58596421 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 58596421 58596421 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known silent c.1332 p.S444 0.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 tier1 - - 25 0 0.00 23 8 25.81 OR8K5 0 genome.wustl.edu 37 11 55927455 55927455 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 55927455 55927455 G A SNP OR8K5 ENST00000313447 human ensembl 74_37 -1 known silent c.339 p.F113 0.015 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 OR8K5 HGNC ENSG00000181752 tier1 - - 32 0 0.00 31 7 18.42 MYH7B 0 genome.wustl.edu 37 20 33572897 33572897 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 20 33572897 33572897 C T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.896 p.P299L 0.989 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tR-bd_arm,superfamily_t-SRE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 114 1 0.87 139 20 12.58 ENSG00000260628 0 genome.wustl.edu 37 16 31993285 31993285 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 31993285 31993285 G A SNP ENSG00000260628 ENST00000568570 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 tier1 - - 74 0 0.00 71 15 17.44 REXO1 0 genome.wustl.edu 37 19 1828546 1828546 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 1828546 1828546 G A SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known missense c.242 p.P81L 0.006 NULL pfam_Exonuclease_RNaseT/D_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 tier1 rs147534740 - 117 0 0.00 141 28 16.57 IFNL2 0 genome.wustl.edu 37 19 39759385 39759385 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 39759385 39759385 C T SNP IFNL2 ENST00000331982 human ensembl 74_37 +1 known missense c.79 p.P27S 0.030 NULL NULL - no_errors IFNL2 HGNC ENSG00000183709 tier1 - - 43 0 0.00 57 13 18.57 NOS2 0 genome.wustl.edu 37 17 26107795 26107795 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 26107795 26107795 G A SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.1002 p.P334 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 tier1 - - 49 0 0.00 53 17 24.29 CYP2C19 0 genome.wustl.edu 37 10 96609693 96609693 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 96609693 96609693 C T SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known missense c.1169 p.S390F 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B 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 CYP2C19 HGNC ENSG00000165841 tier1 - - 56 0 0.00 89 15 14.42 BRINP1 0 genome.wustl.edu 37 9 122075558 122075558 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 122075558 122075558 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.76 p.E26K 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 51 0 0.00 54 24 30.38 ZNF160 0 genome.wustl.edu 37 19 53571974 53571974 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 53571974 53571974 G A SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known missense c.1813 p.R605C 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 ZNF160 HGNC ENSG00000170949 tier1 - - 53 0 0.00 55 10 15.38 ASH1L 0 genome.wustl.edu 37 1 155450339 155450339 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 155450339 155450339 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.2322 p.F774 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_D-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 45 0 0.00 39 8 17.02 OR4D9 0 genome.wustl.edu 37 11 59283138 59283138 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 59283138 59283138 C T SNP OR4D9 ENST00000329328 human ensembl 74_37 +1 known silent c.753 p.F251 0.087 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D9 HGNC ENSG00000172742 tier1 - - 70 0 0.00 109 25 18.66 OR10W1 0 genome.wustl.edu 37 11 58035306 58035306 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 58035306 58035306 G A SNP OR10W1 ENST00000395079 human ensembl 74_37 -1 known missense c.25 p.P9S 0.983 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10W1 HGNC ENSG00000172772 tier1 - - 39 0 0.00 47 9 16.07 OTOF 0 genome.wustl.edu 37 2 26687736 26687736 + Splice_Site SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 26687736 26687736 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known splice_site c.4960+1 e39+1 1.000 - - - no_errors OTOF HGNC ENSG00000115155 tier1 - - 90 0 0.00 125 27 17.76 TCF12 0 genome.wustl.edu 37 15 57574769 57574769 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 57574769 57574769 C T SNP TCF12 ENST00000438423 human ensembl 74_37 +1 known missense c.2105 p.P702L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 tier1 - - 47 0 0.00 57 11 16.18 KCNMB4 0 genome.wustl.edu 37 12 70824430 70824430 + Silent SNP T T C TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 70824430 70824430 T C SNP KCNMB4 ENST00000258111 human ensembl 74_37 +1 known silent c.630 p.S210 0.997 NULL pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB4 HGNC ENSG00000135643 tier1 - - 36 0 0.00 23 5 17.86 PRKCQ 0 genome.wustl.edu 37 10 6540470 6540470 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 6540470 6540470 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known nonsense c.430 p.Q144* 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,superfamily_Kinase-like_dom,superfamily_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_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 tier1 - - 52 0 0.00 61 15 19.74 ZNF628 0 genome.wustl.edu 37 19 55994117 55994117 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 55994117 55994117 C T SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known silent c.1557 p.F519 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 tier1 - - 75 0 0.00 83 11 11.70 ITGAX 0 genome.wustl.edu 37 16 31371384 31371384 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 31371384 31371384 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.705 p.V235 0.723 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 ITGAX HGNC ENSG00000140678 tier1 - - 28 0 0.00 39 6 13.33 PADI2 0 genome.wustl.edu 37 1 17422425 17422425 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 17422425 17422425 C T SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known silent c.390 p.V130 1.000 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,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 PADI2 HGNC ENSG00000117115 tier1 - - 64 0 0.00 49 13 20.97 CLCA1 0 genome.wustl.edu 37 1 86959980 86959980 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 86959980 86959980 G A SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known silent c.1791 p.T597 0.994 pfam_DUF1973,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 - - 66 0 0.00 61 13 17.57 AK9 0 genome.wustl.edu 37 6 109907239 109907239 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 109907239 109907239 G A SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.1879 p.P627S 0.970 superfamily_P-loop_NTPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 - - 54 0 0.00 54 9 14.29 SHANK1 0 genome.wustl.edu 37 19 51170823 51170823 + Missense_Mutation SNP T T A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 51170823 51170823 T A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.4418 p.E1473V 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,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 SHANK1 HGNC ENSG00000161681 tier1 - - 10 0 0.00 7 6 46.15 DPPA3P2 0 genome.wustl.edu 37 14 36840694 36840694 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 36840694 36840694 G A SNP DPPA3P2 ENST00000557188 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors DPPA3P2 HGNC ENSG00000188831 tier1 - - 61 0 0.00 93 20 17.54 TRANK1 0 genome.wustl.edu 37 3 36940674 36940674 + Missense_Mutation SNP A A G TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 36940674 36940674 A G SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.227 p.L76P 0.990 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 60 0 0.00 78 22 22.00 PCDHB13 0 genome.wustl.edu 37 5 140595022 140595022 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 140595022 140595022 G A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.1327 p.D443N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 141 0 0.00 147 32 17.88 UNC5A 0 genome.wustl.edu 37 5 176301366 176301366 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 176301366 176301366 C T SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known nonsense c.1177 p.Q393* 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 tier1 - - 86 0 0.00 110 21 16.03 ZNF804A 0 genome.wustl.edu 37 2 185800578 185800578 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 185800578 185800578 C T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.455 p.S152F 0.005 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 rs147922206 - 35 0 0.00 33 11 25.00 MKLN1-AS1 0 genome.wustl.edu 37 7 130794804 130794805 + R INS - - GGCGGC TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 130794804 130794805 - GGCGGC INS MKLN1-AS1 ENST00000451786 human ensembl 74_37 -1 known rna NULL NULL 0.275:0.977 - - - no_errors MKLN1-AS1 HGNC ENSG00000231721 tier1 COL6A5 0 genome.wustl.edu 37 3 130107651 130107651 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 130107651 130107651 G A SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.2090 p.R697K 0.679 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 36 0 0.00 50 16 24.24 SIGLEC7 0 genome.wustl.edu 37 19 51645996 51645996 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 51645996 51645996 C T SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known missense c.370 p.R124C 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 tier1 - - 50 0 0.00 53 11 17.19 COL22A1 0 genome.wustl.edu 37 8 139833396 139833396 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 139833396 139833396 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.1228 p.D410N 0.999 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 rs150603745 - 35 0 0.00 28 4 12.50 FPR3 0 genome.wustl.edu 37 19 52327005 52327005 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 52327005 52327005 G A SNP FPR3 ENST00000339223 human ensembl 74_37 +1 known missense c.4 p.E2K 0.958 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 tier1 - - 56 0 0.00 70 20 22.22 USP30-AS1 0 genome.wustl.edu 37 12 109490426 109490427 + R INS - - CGGCGG TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 109490426 109490427 - CGGCGG INS USP30-AS1 ENST00000478808 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors USP30-AS1 HGNC ENSG00000256262 tier1 MYH1 0 genome.wustl.edu 37 17 10398388 10398388 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 10398388 10398388 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.5326 p.E1776K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 rs141339850 - 132 0 0.00 133 42 23.86 ASS1 0 genome.wustl.edu 37 9 133370324 133370324 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 133370324 133370324 G A SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known silent c.1041 p.G347 0.998 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 tier1 - - 40 0 0.00 28 16 36.36 RPL5 0 genome.wustl.edu 37 1 93306153 93306153 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 93306153 93306153 C T SNP RPL5 ENST00000370321 human ensembl 74_37 +1 known missense c.751 p.P251S 1.000 NULL pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc - no_errors RPL5 HGNC ENSG00000122406 tier1 - - 69 0 0.00 62 13 17.33 ERBB4 0 genome.wustl.edu 37 2 212483964 212483964 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 212483964 212483964 G A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2239 p.P747S 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 ERBB4 HGNC ENSG00000178568 tier1 - - 34 0 0.00 56 9 13.85 ZFX 0 genome.wustl.edu 37 X 24229432 24229432 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 24229432 24229432 G A SNP ZFX ENST00000540034 human ensembl 74_37 +1 known missense c.2474 p.R825Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 tier1 - - 20 0 0.00 22 14 38.89 RAD21L1 0 genome.wustl.edu 37 20 1223278 1223278 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 20 1223278 1223278 G A SNP RAD21L1 ENST00000409241 human ensembl 74_37 +1 known missense c.872 p.R291K 0.999 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors RAD21L1 HGNC ENSG00000244588 tier1 - - 23 0 0.00 27 11 28.95 GPATCH4 0 genome.wustl.edu 37 1 156567689 156567689 + Nonsense_Mutation SNP A A T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 156567689 156567689 A T SNP GPATCH4 ENST00000334588 human ensembl 74_37 -1 known nonsense c.333 p.C111* 0.030 NULL NULL - no_errors GPATCH4 HGNC ENSG00000160818 tier1 - - 44 0 0.00 40 12 23.08 LAMA2 0 genome.wustl.edu 37 6 129674347 129674347 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 129674347 129674347 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.4562 p.G1521E 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SRE,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 LAMA2 HGNC ENSG00000196569 tier1 - - 44 0 0.00 57 6 9.52 OR4X2 0 genome.wustl.edu 37 11 48266853 48266853 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 48266853 48266853 C T SNP OR4X2 ENST00000302329 human ensembl 74_37 +1 known silent c.198 p.S66 0.741 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X2 HGNC ENSG00000172208 tier1 - - 67 0 0.00 78 13 14.29 CPAMD8 0 genome.wustl.edu 37 19 17025498 17025498 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 17025498 17025498 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.3896 p.A1299V 0.995 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 tier1 - - 35 0 0.00 58 15 20.55 ASPH 0 genome.wustl.edu 37 8 62415936 62415936 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 62415936 62415936 G A SNP ASPH ENST00000379454 human ensembl 74_37 -1 known silent c.2259 p.R753 0.984 NULL 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 - - 49 0 0.00 45 8 15.09 GPATCH4 0 genome.wustl.edu 37 1 156567690 156567690 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 156567690 156567690 C T SNP GPATCH4 ENST00000474904 human ensembl 74_37 -1 known missense c.358 p.V120I 0.001 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 tier1 rs148605371 GMAF=0.0005 44 0 0.00 40 12 23.08 REG3A 0 genome.wustl.edu 37 2 79385793 79385793 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 79385793 79385793 G A SNP REG3A ENST00000305165 human ensembl 74_37 -1 known missense c.179 p.S60F 0.051 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 - no_errors REG3A HGNC ENSG00000172016 tier1 - - 30 0 0.00 38 4 9.52 BAHD1 0 genome.wustl.edu 37 15 40754377 40754377 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 15 40754377 40754377 C T SNP BAHD1 ENST00000416165 human ensembl 74_37 +1 known missense c.1699 p.P567S 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors BAHD1 HGNC ENSG00000140320 tier1 - - 47 0 0.00 58 6 9.38 SLC13A1 0 genome.wustl.edu 37 7 122774576 122774576 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 122774576 122774576 G A SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.820 p.P274S 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 tier1 - - 46 0 0.00 46 16 25.81 UNQ6975 0 genome.wustl.edu 37 2 45416340 45416340 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 45416340 45416340 C T SNP UNQ6975 ENST00000378479 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC009236.1 Clone_based_vega_gene ENSG00000205054 tier1 - - 45 0 0.00 73 11 13.10 PGAP1 0 genome.wustl.edu 37 2 197750179 197750179 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 197750179 197750179 G A SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.1241 p.S414L 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 tier1 - - 100 0 0.00 102 18 14.88 CREB3L1 0 genome.wustl.edu 37 11 46333926 46333926 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 46333926 46333926 G A SNP CREB3L1 ENST00000288400 human ensembl 74_37 +1 known silent c.804 p.R268 0.030 superfamily_TF_D-bd pfam_bZIP,superfamily_TF_D-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 tier1 - - 38 0 0.00 39 9 18.75 NID1 0 genome.wustl.edu 37 1 236201485 236201485 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 236201485 236201485 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.1204 p.E402K 0.951 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 tier1 - - 41 0 0.00 45 6 11.76 CA2 0 genome.wustl.edu 37 8 86392944 86392944 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 8 86392944 86392944 G A SNP CA2 ENST00000285379 human ensembl 74_37 +1 known missense c.709 p.E237K 0.003 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 tier1 rs143666045 - 41 0 0.00 56 16 22.22 ELTD1 0 genome.wustl.edu 37 1 79392644 79392644 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 79392644 79392644 G A SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.1010 p.S337L 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 tier1 - - 42 0 0.00 44 11 20.00 COL6A3 0 genome.wustl.edu 37 2 238280646 238280646 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 238280646 238280646 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.4014 p.Q1338 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 26 0 0.00 23 6 20.69 ZDHHC23 0 genome.wustl.edu 37 3 113675255 113675255 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 113675255 113675255 C T SNP ZDHHC23 ENST00000478793 human ensembl 74_37 +1 known silent c.942 p.T314 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 tier1 - - 46 0 0.00 51 15 22.73 ZNF536 0 genome.wustl.edu 37 19 31039417 31039417 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 31039417 31039417 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.2891 p.S964F 0.234 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 37 0 0.00 35 10 22.22 PTBP3 0 genome.wustl.edu 37 9 115038213 115038213 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 115038213 115038213 G A SNP PTBP3 ENST00000458258 human ensembl 74_37 -1 known missense c.217 p.P73S 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 tier1 - - 64 0 0.00 69 30 30.30 PTPRU 0 genome.wustl.edu 37 1 29611337 29611337 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 29611337 29611337 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.2274 p.V758 0.997 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 66 0 0.00 64 10 13.51 ATM 0 genome.wustl.edu 37 11 108159767 108159767 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 108159767 108159767 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known silent c.4173 p.A1391 0.994 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 - - 62 0 0.00 88 24 21.43 CST1 0 genome.wustl.edu 37 20 23728456 23728456 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 20 23728456 23728456 G A SNP CST1 ENST00000304749 human ensembl 74_37 -1 known silent c.423 p.S141 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 tier1 - - 62 0 0.00 69 11 13.75 TBC1D3P2 0 genome.wustl.edu 37 17 60352924 60352924 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 60352924 60352924 C T SNP TBC1D3P2 ENST00000339120 human ensembl 74_37 -1 known rna NULL NULL 0.162 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 tier1 - - 90 0 0.00 111 20 15.27 TMEM132C 0 genome.wustl.edu 37 12 128899972 128899972 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 128899972 128899972 G A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.781 p.E261K 0.334 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 70 0 0.00 67 9 11.84 SLC12A7 0 genome.wustl.edu 37 5 1081838 1081838 + Frame_Shift_Del DEL G G - TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 1081838 1081838 G - DEL SLC12A7 ENST00000264930 human ensembl 74_37 -1 known frame_shift_del c.1151 p.A384fs 0.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 81 0 0.00 71 14 16.47 PDGFB 0 genome.wustl.edu 37 22 39626130 39626130 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 22 39626130 39626130 C T SNP PDGFB ENST00000331163 human ensembl 74_37 -1 known missense c.560 p.R187Q 0.101 NULL pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 tier1 rs146204796 GMAF=0.0005 84 0 0.00 90 24 21.05 FNDC7 0 genome.wustl.edu 37 1 109261651 109261651 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 109261651 109261651 C T SNP FNDC7 ENST00000271311 human ensembl 74_37 +1 known missense c.581 p.S194F 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 tier1 - - 49 0 0.00 50 8 13.79 GMPS 0 genome.wustl.edu 37 3 155649568 155649568 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 155649568 155649568 C T SNP GMPS ENST00000496455 human ensembl 74_37 +1 known silent c.1575 p.S525 0.999 pfam_GMP_synth_C pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_D/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tR-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 tier1 - - 54 0 0.00 56 6 9.68 FADS1 0 genome.wustl.edu 37 11 61584070 61584070 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 11 61584070 61584070 C T SNP FADS1 ENST00000350997 human ensembl 74_37 -1 known missense c.332 p.G111E 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FADS1 HGNC ENSG00000149485 tier1 - - 51 0 0.00 83 15 15.31 DOCK2 0 genome.wustl.edu 37 5 169508872 169508872 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 169508872 169508872 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5314 p.P1772S 0.000 NULL 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 - - 81 0 0.00 64 13 16.88 MEFV 0 genome.wustl.edu 37 16 3293917 3293917 + Missense_Mutation SNP A A T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 3293917 3293917 A T SNP MEFV ENST00000541159 human ensembl 74_37 -1 putative missense c.1277 p.F426Y 0.000 NULL pfam_DAPIN,pfam_Znf_B-box,superfamily_DEATH-like_dom,smart_Znf_B-box,pfscan_DAPIN,pfscan_Znf_B-box - no_errors MEFV HGNC ENSG00000103313 tier1 - - 31 0 0.00 37 7 15.91 COL11A1 0 genome.wustl.edu 37 1 103355091 103355091 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 103355091 103355091 C T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.4420 p.G1474S 1.000 pfam_Collagen 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 COL11A1 HGNC ENSG00000060718 tier1 - - 107 0 0.00 102 25 19.69 MORC1 0 genome.wustl.edu 37 3 108836856 108836856 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 108836856 108836856 G A SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known silent c.51 p.F17 1.000 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 tier1 - - 153 0 0.00 167 33 16.50 ENSG00000235772 0 genome.wustl.edu 37 21 43981883 43981883 + R SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 21 43981883 43981883 C T SNP ENSG00000235772 ENST00000442605 human ensembl 74_37 -1 known rna NULL NULL 0.300 - - - no_errors AP001625.6 Clone_based_vega_gene ENSG00000235772 tier1 - - 29 0 0.00 23 4 14.81 ENSG00000205663 0 genome.wustl.edu 37 X 3824062 3824062 + R SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 X 3824062 3824062 G A SNP ENSG00000205663 ENST00000381106 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors RP11-706O15.5 Clone_based_vega_gene ENSG00000205663 tier1 - - 123 0 0.00 133 33 19.88 LEPREL1 0 genome.wustl.edu 37 3 189690672 189690672 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 189690672 189690672 C T SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.1690 p.A564T 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 tier1 - - 48 0 0.00 66 14 17.50 PDGFA 0 genome.wustl.edu 37 7 550608 550608 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 550608 550608 C T SNP PDGFA ENST00000354513 human ensembl 74_37 -1 known silent c.291 p.K97 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFA HGNC ENSG00000197461 tier1 - - 70 0 0.00 74 27 26.73 COL5A2 0 genome.wustl.edu 37 2 189906326 189906326 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 2 189906326 189906326 C T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.3619 p.E1207K 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 tier1 - - 49 0 0.00 44 15 25.42 MEGF10 0 genome.wustl.edu 37 5 126732295 126732295 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 126732295 126732295 C T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.484 p.P162S 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 tier1 - - 106 0 0.00 103 33 24.26 PPWD1 0 genome.wustl.edu 37 5 64867822 64867823 + Frame_Shift_Ins INS - - A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 64867822 64867823 - A INS PPWD1 ENST00000261308 human ensembl 74_37 +1 known frame_shift_ins c.678_679 p.T226fs 1.000:1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 tier1 59 0 0.00 50 7 12.28 LGR6 0 genome.wustl.edu 37 1 202283984 202283984 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 202283984 202283984 C T SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.1622 p.P541L 0.992 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 tier1 - - 43 0 0.00 54 17 23.94 CCDC144B 0 genome.wustl.edu 37 17 18511275 18511275 + R SNP C C A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 18511275 18511275 C A SNP CCDC144B ENST00000455629 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors CCDC144B HGNC ENSG00000154874 tier1 - - 173 0 0.00 208 35 14.40 DOCK2 0 genome.wustl.edu 37 5 169506118 169506118 + Missense_Mutation SNP G G C TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 169506118 169506118 G C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5134 p.E1712Q 1.000 NULL 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 - - 30 0 0.00 52 6 10.34 PDHB 0 genome.wustl.edu 37 3 58413849 58413849 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 58413849 58413849 G A SNP PDHB ENST00000302746 human ensembl 74_37 -1 known missense c.992 p.P331L 1.000 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC ENSG00000168291 tier1 - - 38 0 0.00 39 10 20.41 OR6C3 0 genome.wustl.edu 37 12 55726200 55726200 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 55726200 55726200 C T SNP OR6C3 ENST00000379667 human ensembl 74_37 +1 known missense c.716 p.S239F 0.098 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 OR6C3 HGNC ENSG00000205329 tier1 - - 41 0 0.00 47 11 18.97 IQCF2 0 genome.wustl.edu 37 3 51897111 51897111 + Nonsense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 51897111 51897111 C T SNP IQCF2 ENST00000333127 human ensembl 74_37 +1 known nonsense c.220 p.Q74* 0.996 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF2 HGNC ENSG00000184345 tier1 - - 36 0 0.00 44 6 12.00 NCF1 0 genome.wustl.edu 37 7 74197917 74197917 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 7 74197917 74197917 C T SNP NCF1 ENST00000289473 human ensembl 74_37 +1 known silent c.624 p.S208 0.998 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_DPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_P47PHOX - no_errors NCF1 HGNC ENSG00000158517 tier1 - - 86 0 0.00 80 13 13.98 ZNF687 0 genome.wustl.edu 37 1 151263000 151263000 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 151263000 151263000 C T SNP ZNF687 ENST00000324048 human ensembl 74_37 +1 known missense c.3170 p.S1057F 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 tier1 - - 43 0 0.00 48 17 26.15 MYOG 0 genome.wustl.edu 37 1 203054910 203054910 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 203054910 203054910 G A SNP MYOG ENST00000241651 human ensembl 74_37 -1 known silent c.180 p.H60 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOG HGNC ENSG00000122180 tier1 - - 33 0 0.00 40 9 18.37 TMEM232 0 genome.wustl.edu 37 5 110003051 110003051 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 5 110003051 110003051 C T SNP TMEM232 ENST00000429839 human ensembl 74_37 -1 known missense c.3 p.M1I 0.007 NULL NULL - no_errors TMEM232 HGNC ENSG00000186952 tier1 - - 41 0 0.00 65 12 15.58 MYO18A 0 genome.wustl.edu 37 17 27423801 27423801 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 27423801 27423801 C T SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.4363 p.E1455K 1.000 pfam_Myosin_tail 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 - - 50 0 0.00 46 18 28.12 CNTP3B 0 genome.wustl.edu 37 9 43884963 43884963 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 43884963 43884963 C T SNP CNTP3B ENST00000377564 human ensembl 74_37 +1 known silent c.2256 p.V752 0.999 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 CNTP3B HGNC ENSG00000154529 tier1 - - 72 0 0.00 128 18 12.33 ARID3A 0 genome.wustl.edu 37 19 972055 972055 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 972055 972055 C T SNP ARID3A ENST00000263620 human ensembl 74_37 +1 known missense c.1772 p.S591L 0.983 NULL pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID3A HGNC ENSG00000116017 tier1 - - 105 0 0.00 118 28 19.18 SALL1 0 genome.wustl.edu 37 16 51175382 51175382 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 16 51175382 51175382 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.751 p.R251C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 44 0 0.00 47 8 14.55 RNF150 0 genome.wustl.edu 37 4 141847187 141847187 + Missense_Mutation SNP C C A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 4 141847187 141847187 C A SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known missense c.931 p.D311Y 1.000 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 RNF150 HGNC ENSG00000170153 tier1 - - 27 0 0.00 28 4 12.50 FAM230A 0 genome.wustl.edu 37 22 20708719 20708719 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 22 20708719 20708719 G A SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.451 p.E151K 0.445 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 62 0 0.00 49 18 26.87 EML5 0 genome.wustl.edu 37 14 89202819 89202819 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 89202819 89202819 C T SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.938 p.R313K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 - - 47 0 0.00 59 10 14.49 RFX6 0 genome.wustl.edu 37 6 117237188 117237188 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 117237188 117237188 G A SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.798 p.M266I 1.000 NULL pfam_D-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 26 0 0.00 30 7 18.42 ZBTB32 0 genome.wustl.edu 37 19 36207192 36207192 + Silent SNP C C G TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 19 36207192 36207192 C G SNP ZBTB32 ENST00000262630 human ensembl 74_37 +1 known silent c.1182 p.V394 0.996 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 ZBTB32 HGNC ENSG00000011590 tier1 - - 40 0 0.00 30 5 14.29 GPAM 0 genome.wustl.edu 37 10 113915640 113915640 + Missense_Mutation SNP T T C TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 113915640 113915640 T C SNP GPAM ENST00000348367 human ensembl 74_37 -1 known missense c.2293 p.R765G 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 tier1 - - 55 0 0.00 68 17 19.77 ANKRD30A 0 genome.wustl.edu 37 10 37430649 37430649 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 37430649 37430649 G A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.656 p.G219E 0.177 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 - - 72 0 0.00 84 19 18.45 BRINP1 0 genome.wustl.edu 37 9 121929585 121929585 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 9 121929585 121929585 G A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.2063 p.S688F 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 24 0 0.00 24 7 22.58 DSE 0 genome.wustl.edu 37 6 116758475 116758475 + Nonsense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 116758475 116758475 G A SNP DSE ENST00000537543 human ensembl 74_37 +1 known nonsense c.2901 p.W967* 1.000 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 tier1 - - 50 0 0.00 51 10 16.39 MYO15A 0 genome.wustl.edu 37 17 18059639 18059639 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 18059639 18059639 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.8590 p.E2864K 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 - - 30 0 0.00 41 6 12.77 SLC26A9 0 genome.wustl.edu 37 1 205897105 205897105 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 1 205897105 205897105 G A SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known silent c.1026 p.I342 0.873 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 tier1 - - 37 0 0.00 34 8 19.05 ATG2B 0 genome.wustl.edu 37 14 96768417 96768417 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 96768417 96768417 G A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.5066 p.P1689L 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 tier1 - - 67 0 0.00 68 15 18.07 ME1 0 genome.wustl.edu 37 6 84025054 84025054 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 6 84025054 84025054 C T SNP ME1 ENST00000369705 human ensembl 74_37 -1 known missense c.679 p.E227K 1.000 pfam_Malic_N pfam_Malic_D-bd,pfam_Malic_N,smart_Malic_D-bd,prints_Malic_OxRdtase - no_errors ME1 HGNC ENSG00000065833 tier1 - - 95 0 0.00 97 22 18.33 SEMA3G 0 genome.wustl.edu 37 3 52473941 52473941 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 52473941 52473941 G A SNP SEMA3G ENST00000231721 human ensembl 74_37 -1 known silent c.1317 p.I439 0.030 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,pfscan_Ig-like_dom - no_errors SEMA3G HGNC ENSG00000010319 tier1 - - 57 0 0.00 62 12 16.22 COLQ 0 genome.wustl.edu 37 3 15515533 15515533 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 3 15515533 15515533 C T SNP COLQ ENST00000383788 human ensembl 74_37 -1 known missense c.610 p.G204R 1.000 NULL pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 tier1 - - 47 0 0.00 58 15 20.55 TACC2 0 genome.wustl.edu 37 10 123845786 123845786 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 10 123845786 123845786 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known silent c.3771 p.S1257 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 - - 29 0 0.00 40 8 16.67 TBC1D3F 0 genome.wustl.edu 37 17 36287676 36287676 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 17 36287676 36287676 C T SNP TBC1D3F ENST00000327454 human ensembl 74_37 +1 known missense c.205 p.R69W 0.884 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D3F HGNC ENSG00000185128 tier1 - - 36 0 0.00 34 9 20.93 TMEM119 0 genome.wustl.edu 37 12 108985691 108985691 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 12 108985691 108985691 C T SNP TMEM119 ENST00000392806 human ensembl 74_37 -1 known missense c.469 p.A157T 0.911 NULL NULL - no_errors TMEM119 HGNC ENSG00000183160 tier1 - - 71 0 0.00 93 17 15.45 OR4K13 0 genome.wustl.edu 37 14 20502851 20502851 + Missense_Mutation SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7b5b6759-0ab9-4272-b4b4-22cd138ed5a8 3f6bb728-6cc8-483f-85a4-4841d1d31718 14 20502851 20502851 G A SNP OR4K13 ENST00000315693 human ensembl 74_37 -1 known missense c.67 p.L23F 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K13 HGNC ENSG00000176253 tier1 - - 24 0 0.00 34 6 15.00