Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCB5 0 genome.wustl.edu 37 7 20685713 20685713 + Silent SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 20685713 20685713 C A SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative silent c.933 p.S311 0.986 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 - - 43 0 0.00 14 5 26.32 ACE 0 genome.wustl.edu 37 17 61564014 61564014 + Silent SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 61564014 61564014 C A SNP ACE ENST00000290866 human ensembl 74_37 +1 known silent c.2155 p.R719 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 75 0 0.00 74 4 5.13 ACTN2 0 genome.wustl.edu 37 1 236918342 236918342 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 236918342 236918342 G T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1998 p.Q666H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 tier1 - - 51 0 0.00 14 5 26.32 ACVR1 0 genome.wustl.edu 37 2 158637047 158637047 + Nonsense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 158637047 158637047 C A SNP ACVR1 ENST00000263640 human ensembl 74_37 -1 known nonsense c.133 p.E45* 0.987 pfam_Activin_rcpt pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors ACVR1 HGNC ENSG00000115170 tier1 - - 33 0 0.00 13 3 18.75 ADAMTS20 0 genome.wustl.edu 37 12 43777766 43777766 + Nonsense_Mutation SNP A A T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 43777766 43777766 A T SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known nonsense c.4467 p.C1489* 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 38 0 0.00 14 2 12.50 ADAMTS4 0 genome.wustl.edu 37 1 161166327 161166327 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 161166327 161166327 G A SNP ADAMTS4 ENST00000367995 human ensembl 74_37 -1 known missense c.977 p.P326L 0.000 NULL pfam_Peptidase_M12B_N - no_errors ADAMTS4 HGNC ENSG00000158859 tier1 - - 46 0 0.00 37 21 36.21 ADAMTS8 0 genome.wustl.edu 37 11 130275784 130275784 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 130275784 130275784 C T SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.2339 p.R780Q 0.530 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 tier1 - - 32 0 0.00 21 7 25.00 ADCY8 0 genome.wustl.edu 37 8 131861901 131861901 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 131861901 131861901 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2359 p.V787I 0.999 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 34 0 0.00 8 6 42.86 ADGB 0 genome.wustl.edu 37 6 147013986 147013986 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 147013986 147013986 G T SNP ADGB ENST00000397944 human ensembl 74_37 +1 known silent c.1512 p.R504 0.948 smart_Peptidase_C2_calpain_cat 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 - - 40 0 0.00 23 4 14.81 AFAP1L1 0 genome.wustl.edu 37 5 148687091 148687091 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 148687091 148687091 G T SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known missense c.662 p.C221F 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 73 0 0.00 29 2 6.45 AGBL3 0 genome.wustl.edu 37 7 134743943 134743943 + Frame_Shift_Del DEL A A - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 134743943 134743943 A - DEL AGBL3 ENST00000458078 human ensembl 74_37 +1 known frame_shift_del c.1787 p.E596fs 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC ENSG00000146856 tier1 22 0 0.00 3 2 40.00 AHNAK2 0 genome.wustl.edu 37 14 105416271 105416271 + Silent SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 105416271 105416271 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.5517 p.G1839 0.679 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 242 0 0.00 92 56 37.84 AHNAK2 0 genome.wustl.edu 37 14 105416272 105416272 + Missense_Mutation SNP C C G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 105416272 105416272 C G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.5516 p.G1839A 0.417 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 244 0 0.00 91 55 37.67 ALLC 0 genome.wustl.edu 37 2 3744990 3744990 + Missense_Mutation SNP G G C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 3744990 3744990 G C SNP ALLC ENST00000252505 human ensembl 74_37 +1 known missense c.794 p.R265P 0.920 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 tier1 - - 61 0 0.00 25 32 56.14 AMPH 0 genome.wustl.edu 37 7 38431352 38431352 + Nonsense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 38431352 38431352 G T SNP AMPH ENST00000356264 human ensembl 74_37 -1 known nonsense c.1875 p.Y625* 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Amphiphysin,prints_SH3_domain pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 95 0 0.00 53 3 5.36 ANK1 0 genome.wustl.edu 37 8 41574498 41574498 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 41574498 41574498 G T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.1377 p.N459K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 80 0 0.00 75 4 5.06 ANKRD13D 0 genome.wustl.edu 37 11 67067035 67067035 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 67067035 67067035 G A SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known missense c.833 p.R278H 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 39 0 0.00 28 3 9.68 ANKRD30BL 0 genome.wustl.edu 37 2 132912337 132912337 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 132912337 132912337 C T SNP ANKRD30BL ENST00000295181 human ensembl 74_37 -1 known missense c.512 p.G171D 0.542 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC ENSG00000163046 tier1 - - 102 0 0.00 27 30 51.72 ANKS1B 0 genome.wustl.edu 37 12 99837501 99837501 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 99837501 99837501 G T SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.1525 p.P509T 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,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 ANKS1B HGNC ENSG00000185046 tier1 - - 28 0 0.00 10 4 28.57 ANXA5 0 genome.wustl.edu 37 4 122593777 122593777 + Frame_Shift_Del DEL A A - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 122593777 122593777 A - DEL ANXA5 ENST00000296511 human ensembl 74_37 -1 known frame_shift_del c.536 p.L179fs 0.995 pfam_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC ENSG00000164111 tier1 36 0 0.00 12 2 14.29 AP4M1 0 genome.wustl.edu 37 7 99702906 99702906 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 99702906 99702906 C A SNP AP4M1 ENST00000359593 human ensembl 74_37 +1 known missense c.771 p.S257R 0.970 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP4M1 HGNC ENSG00000221838 tier1 - - 53 0 0.00 38 4 9.52 ARHGAP11A 0 genome.wustl.edu 37 15 32920994 32920994 + Nonsense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 32920994 32920994 G T SNP ARHGAP11A ENST00000361627 human ensembl 74_37 +1 known nonsense c.928 p.E310* 0.995 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 tier1 - - 78 0 0.00 56 4 6.56 ARHGAP25 0 genome.wustl.edu 37 2 68962277 68962277 + RNA SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 68962277 68962277 G A SNP ARHGAP25 ENST00000456116 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGAP25 HGNC ENSG00000163219 tier1 - - 61 0 0.00 20 15 42.86 ARID4B 0 genome.wustl.edu 37 1 235383152 235383152 + Silent SNP G G C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 235383152 235383152 G C SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known silent c.1539 p.S513 0.952 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 26 0 0.00 18 2 10.00 ARSG 0 genome.wustl.edu 37 17 66303711 66303711 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 66303711 66303711 G T SNP ARSG ENST00000448504 human ensembl 74_37 +1 known missense c.77 p.C26F 0.000 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 82 0 0.00 73 4 5.19 ATAD5 0 genome.wustl.edu 37 17 29214209 29214209 + Splice_Site SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 29214209 29214209 G T SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known splice_site c.4078-1 e19-1 1.000 - - - no_errors ATAD5 HGNC ENSG00000176208 62 0 0.00 33 3 8.33 ATP10D 0 genome.wustl.edu 37 4 47538513 47538513 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 47538513 47538513 G T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.1075 p.D359Y 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 20 0 0.00 16 2 11.11 BABAM1 0 genome.wustl.edu 37 19 17389663 17389663 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 17389663 17389663 G T SNP BABAM1 ENST00000359435 human ensembl 74_37 +1 known missense c.796 p.A266S 0.997 NULL NULL - no_errors BABAM1 HGNC ENSG00000105393 tier1 - - 67 0 0.00 75 4 5.06 BRINP1 0 genome.wustl.edu 37 9 121930059 121930059 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 121930059 121930059 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1589 p.S530N 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 45 0 0.00 12 7 36.84 C15orf43 0 genome.wustl.edu 37 15 45270773 45270773 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 45270773 45270773 G T SNP C15orf43 ENST00000340827 human ensembl 74_37 +1 known missense c.610 p.V204F 1.000 NULL NULL - no_errors C15orf43 HGNC ENSG00000167014 tier1 - - 68 0 0.00 66 4 5.71 C16orf54 0 genome.wustl.edu 37 16 29756002 29756002 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 29756002 29756002 G A SNP C16orf54 ENST00000329410 human ensembl 74_37 -1 known missense c.271 p.R91C 1.000 NULL NULL - no_errors C16orf54 HGNC ENSG00000185905 tier1 - - 65 0 0.00 23 4 14.29 C16orf89 0 genome.wustl.edu 37 16 5105289 5105289 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 5105289 5105289 G T SNP C16orf89 ENST00000350219 human ensembl 74_37 -1 known missense c.940 p.L314I 1.000 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 tier1 - - 97 0 0.00 66 4 5.71 C16orf89 0 genome.wustl.edu 37 16 5094401 5094401 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 5094401 5094401 G T SNP C16orf89 ENST00000422873 human ensembl 74_37 -1 known missense c.1148 p.P383Q 0.000 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 64 0 0.00 38 2 5.00 C17orf75 0 genome.wustl.edu 37 17 30661542 30661542 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 30661542 30661542 G T SNP C17orf75 ENST00000225805 human ensembl 74_37 -1 known missense c.817 p.H273N 0.448 NULL NULL - no_errors C17orf75 HGNC ENSG00000108666 tier1 - - 42 0 0.00 12 3 20.00 C18orf63 0 genome.wustl.edu 37 18 72020612 72020612 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 18 72020612 72020612 G T SNP C18orf63 ENST00000579455 human ensembl 74_37 +1 known silent c.1110 p.V370 1.000 NULL NULL - no_errors C18orf63 HGNC ENSG00000206043 tier1 - - 32 0 0.00 0 2 100.00 C19orf68 0 genome.wustl.edu 37 19 48685861 48685861 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 48685861 48685861 C A SNP C19orf68 ENST00000328759 human ensembl 74_37 +1 known missense c.425 p.A142D 1.000 NULL NULL - no_errors C19orf68 HGNC ENSG00000185453 tier1 - - 66 0 0.00 51 4 7.27 C1orf123 0 genome.wustl.edu 37 1 53682462 53682462 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 53682462 53682462 G T SNP C1orf123 ENST00000294360 human ensembl 74_37 -1 known missense c.331 p.Q111K 1.000 pfam_DUF866_euk pfam_DUF866_euk - no_errors C1orf123 HGNC ENSG00000162384 tier1 - - 115 0 0.00 92 5 5.15 C21orf88 0 genome.wustl.edu 37 21 40971352 40971352 + RNA SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 21 40971352 40971352 C A SNP C21orf88 ENST00000489821 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors C21orf88 HGNC ENSG00000184809 tier1 - - 73 0 0.00 39 4 9.30 C2CD2L 0 genome.wustl.edu 37 11 118983046 118983046 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 118983046 118983046 G T SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.1028 p.G343V 0.999 superfamily_C2_dom superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 120 0 0.00 72 4 5.26 C8A 0 genome.wustl.edu 37 1 57378299 57378299 + Splice_Site SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 57378299 57378299 G T SNP C8A ENST00000361249 human ensembl 74_37 +1 known splice_site c.1603+1 e10+1 1.000 - - - no_errors C8A HGNC ENSG00000157131 tier1 - - 47 0 0.00 36 5 12.20 C8orf34 0 genome.wustl.edu 37 8 69728126 69728126 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 69728126 69728126 G T SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.1555 p.A519S 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 32 0 0.00 20 3 13.04 CACNA1C 0 genome.wustl.edu 37 12 2800177 2800177 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 2800177 2800177 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.6442 p.A2148S 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 25 0 0.00 28 2 6.67 CACNA1H 0 genome.wustl.edu 37 16 1254250 1254250 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 1254250 1254250 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.2243 p.A748V 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 tier1 - - 80 0 0.00 45 24 34.78 CACNA1I 0 genome.wustl.edu 37 22 40074028 40074028 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 22 40074028 40074028 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.4988 p.R1663Q 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 CACNA1I HGNC ENSG00000100346 tier1 - - 121 0 0.00 72 14 16.09 CASK 0 genome.wustl.edu 37 X 41446170 41446170 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d X 41446170 41446170 G T SNP CASK ENST00000378163 human ensembl 74_37 -1 known missense c.1304 p.P435H 1.000 pfam_L27_C,smart_L27,pfscan_L27 pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like - no_errors CASK HGNC ENSG00000147044 tier1 - - 64 0 0.00 55 4 6.78 CASP8AP2 0 genome.wustl.edu 37 6 90578514 90578514 + RNA SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 90578514 90578514 G T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors CASP8AP2 HGNC ENSG00000118412 42 0 0.00 26 3 10.34 CASZ1 0 genome.wustl.edu 37 1 10709147 10709147 + Silent SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 10709147 10709147 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.3138 p.D1046 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 111 0 0.00 74 14 15.91 CBWD6 0 genome.wustl.edu 37 9 69218755 69218755 + RNA SNP A A T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 69218755 69218755 A T SNP CBWD6 ENST00000477430 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CBWD6 HGNC ENSG00000204790 tier1 - - 46 0 0.00 15 4 21.05 CCDC130 0 genome.wustl.edu 37 19 13869785 13869785 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 13869785 13869785 C T SNP CCDC130 ENST00000221554 human ensembl 74_37 +1 known missense c.361 p.R121C 1.000 pfam_CWC16 pfam_CWC16 - no_errors CCDC130 HGNC ENSG00000104957 tier1 - - 66 0 0.00 5 31 86.11 CCDC88B 0 genome.wustl.edu 37 11 64111516 64111516 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 64111516 64111516 G T SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known silent c.1503 p.L501 0.000 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 tier1 - - 66 0 0.00 35 4 10.26 CCNE1 0 genome.wustl.edu 37 19 30312651 30312651 + Missense_Mutation SNP A A G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 30312651 30312651 A G SNP CCNE1 ENST00000262643 human ensembl 74_37 +1 known missense c.632 p.H211R 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 tier1 - - 83 0 0.00 48 12 20.00 CCR2 0 genome.wustl.edu 37 3 46401261 46401261 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 3 46401261 46401261 G T SNP CCR2 ENST00000292301 human ensembl 74_37 +1 known silent c.1035 p.V345 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2 - no_errors CCR2 HGNC ENSG00000121807 tier1 - - 35 0 0.00 16 17 51.52 CDYL2 0 genome.wustl.edu 37 16 80646529 80646529 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 80646529 80646529 G T SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known silent c.1212 p.V404 0.958 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 86 0 0.00 57 3 5.00 CEP250 0 genome.wustl.edu 37 20 34092220 34092220 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 20 34092220 34092220 G T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.6023 p.C2008F 0.968 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 tier1 - - 28 0 0.00 59 4 6.35 CEP85 0 genome.wustl.edu 37 1 26603961 26603961 + RNA SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 26603961 26603961 G T SNP CEP85 ENST00000469609 human ensembl 74_37 +1 known rna NULL NULL 0.091 - - - no_errors CEP85 HGNC ENSG00000130695 tier1 - - 98 0 0.00 70 4 5.41 CFH 0 genome.wustl.edu 37 1 196682864 196682864 + Splice_Site SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 196682864 196682864 G T SNP CFH ENST00000367429 human ensembl 74_37 +1 known splice_site c.1337-1 e10-1 1.000 - - - no_errors CFH HGNC ENSG00000000971 11 0 0.00 9 2 18.18 CHAF1B 0 genome.wustl.edu 37 21 37771856 37771856 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 21 37771856 37771856 G T SNP CHAF1B ENST00000314103 human ensembl 74_37 +1 known missense c.616 p.A206S 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B - no_errors CHAF1B HGNC ENSG00000159259 tier1 - - 50 0 0.00 26 4 13.33 CHFR 0 genome.wustl.edu 37 12 133434058 133434058 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 133434058 133434058 G T SNP CHFR ENST00000266880 human ensembl 74_37 -1 known silent c.1035 p.P345 0.002 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 tier1 - - 67 0 0.00 78 5 6.02 CHP1 0 genome.wustl.edu 37 15 41571030 41571030 + Silent SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 41571030 41571030 C A SNP CHP1 ENST00000334660 human ensembl 74_37 +1 known silent c.477 p.T159 0.998 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CHP1 HGNC ENSG00000187446 tier1 - - 72 0 0.00 47 4 7.84 CHRNB4 0 genome.wustl.edu 37 15 78921536 78921536 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 78921536 78921536 C T SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known missense c.1111 p.E371K 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 tier1 - - 103 0 0.00 76 21 21.21 CIAO1 0 genome.wustl.edu 37 2 96937046 96937046 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 96937046 96937046 G T SNP CIAO1 ENST00000488633 human ensembl 74_37 +1 known missense c.977 p.G326V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIAO1 HGNC ENSG00000144021 tier1 - - 63 0 0.00 35 4 10.26 CLINT1 0 genome.wustl.edu 37 5 157236744 157236744 + Frame_Shift_Del DEL G G - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 157236744 157236744 G - DEL CLINT1 ENST00000296951 human ensembl 74_37 -1 known frame_shift_del c.533 p.P178fs 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC ENSG00000113282 tier1 33 0 0.00 8 2 20.00 CMPK2 0 genome.wustl.edu 37 2 6989964 6989964 + RNA SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 6989964 6989964 G T SNP CMPK2 ENST00000478738 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CMPK2 HGNC ENSG00000134326 tier1 - - 51 0 0.00 17 3 15.00 CNRIP1 0 genome.wustl.edu 37 2 68546496 68546496 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 68546496 68546496 C T SNP CNRIP1 ENST00000263655 human ensembl 74_37 -1 known missense c.37 p.A13T 0.884 NULL NULL - no_errors CNRIP1 HGNC ENSG00000119865 tier1 - - 88 0 0.00 25 46 64.79 CNTN3 0 genome.wustl.edu 37 3 74350588 74350588 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 3 74350588 74350588 G T SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.2056 p.P686T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 69 0 0.00 33 2 5.71 COL17A1 0 genome.wustl.edu 37 10 105801271 105801271 + Silent SNP T T A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 10 105801271 105801271 T A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.2577 p.P859 0.998 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 120 0 0.00 35 35 50.00 COL1A2 0 genome.wustl.edu 37 7 94043006 94043006 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 94043006 94043006 C A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.1562 p.A521D 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 41 0 0.00 18 2 10.00 COL22A1 0 genome.wustl.edu 37 8 139715569 139715569 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 139715569 139715569 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.2539 p.P847S 0.809 pfam_Collagen 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 - - 69 0 0.00 28 18 38.30 COMMD9 0 genome.wustl.edu 37 11 36297787 36297787 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 36297787 36297787 G T SNP COMMD9 ENST00000263401 human ensembl 74_37 -1 known missense c.356 p.S119Y 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD9 HGNC ENSG00000110442 tier1 - - 26 0 0.00 19 4 17.39 CORIN 0 genome.wustl.edu 37 4 47605414 47605414 + Missense_Mutation SNP T T G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 47605414 47605414 T G SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.2812 p.M938L 1.000 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 tier1 - - 21 0 0.00 0 7 100.00 CPXM2 0 genome.wustl.edu 37 10 125639812 125639812 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 10 125639812 125639812 G T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.318 p.N106K 1.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 tier1 - - 58 0 0.00 47 4 7.84 CRAMP1L 0 genome.wustl.edu 37 16 1676115 1676115 + Nonsense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 1676115 1676115 G A SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known nonsense c.488 p.W163* 1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 tier1 - - 87 0 0.00 54 4 6.78 CRYGD 0 genome.wustl.edu 37 2 208986573 208986573 + Missense_Mutation SNP G G C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 208986573 208986573 G C SNP CRYGD ENST00000264376 human ensembl 74_37 -1 known missense c.349 p.R117G 0.722 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGD HGNC ENSG00000118231 tier1 - - 54 0 0.00 23 15 38.46 CTNNB1 0 genome.wustl.edu 37 3 41266100 41266100 + Missense_Mutation SNP T T G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 3 41266100 41266100 T G SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.97 p.S33A 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 tier1 - - 30 0 0.00 8 8 50.00 CTTNBP2 0 genome.wustl.edu 37 7 117432023 117432023 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 117432023 117432023 G T SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known silent c.1227 p.T409 0.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 tier1 - - 111 0 0.00 58 4 6.45 CUL9 0 genome.wustl.edu 37 6 43181534 43181534 + Nonsense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 43181534 43181534 G T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known nonsense c.5572 p.E1858* 0.999 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 tier1 - - 118 0 0.00 68 4 5.48 CUX2 0 genome.wustl.edu 37 12 111736347 111736347 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 111736347 111736347 C A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.707 p.A236E 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 133 0 0.00 68 4 5.56 CYFIP1 0 genome.wustl.edu 37 15 22999533 22999533 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 22999533 22999533 G T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.3405 p.Q1135H 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 38 0 0.00 33 4 10.81 CYP24A1 0 genome.wustl.edu 37 20 52779343 52779343 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 20 52779343 52779343 G T SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.903 p.F301L 0.998 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP24A_mit pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 tier1 - - 77 0 0.00 46 13 22.03 DAB2IP 0 genome.wustl.edu 37 9 124530738 124530738 + Silent SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 124530738 124530738 C A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.1725 p.S575 0.905 superfamily_Rho_GTPase_activation_prot,smart_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 DAB2IP HGNC ENSG00000136848 tier1 - - 78 0 0.00 40 4 9.09 DCC 0 genome.wustl.edu 37 18 50866153 50866153 + Nonsense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 18 50866153 50866153 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known nonsense c.2235 p.W745* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,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 - - 44 0 0.00 6 5 45.45 DHRS7B 0 genome.wustl.edu 37 17 21081549 21081549 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 21081549 21081549 G T SNP DHRS7B ENST00000395511 human ensembl 74_37 +1 known missense c.203 p.C68F 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7B HGNC ENSG00000109016 tier1 - - 75 0 0.00 30 4 11.76 DLGAP5 0 genome.wustl.edu 37 14 55615075 55615075 + Silent SNP T T C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 55615075 55615075 T C SNP DLGAP5 ENST00000247191 human ensembl 74_37 -1 known silent c.2535 p.E845 0.249 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 tier1 - - 94 0 0.00 33 4 10.81 DNAH12 0 genome.wustl.edu 37 3 57327776 57327776 + RNA SNP T T A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 3 57327776 57327776 T A SNP DNAH12 ENST00000462713 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DNAH12 HGNC ENSG00000174844 tier1 - - 19 0 0.00 5 5 50.00 DNAH14 0 genome.wustl.edu 37 1 225268353 225268353 + Frame_Shift_Del DEL T T - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 225268353 225268353 T - DEL DNAH14 ENST00000430092 human ensembl 74_37 +1 known frame_shift_del c.3039 p.W1014fs 0.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 53 0 0.00 12 2 14.29 DNAJC17 0 genome.wustl.edu 37 15 41067283 41067283 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 41067283 41067283 C A SNP DNAJC17 ENST00000220496 human ensembl 74_37 -1 known missense c.546 p.E182D 0.922 NULL pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC17 HGNC ENSG00000104129 tier1 - - 51 0 0.00 72 4 5.26 EHMT2 0 genome.wustl.edu 37 6 31851610 31851610 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 31851610 31851610 G T SNP EHMT2 ENST00000395728 human ensembl 74_37 -1 known missense c.3060 p.N1020K 0.998 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 tier1 - - 52 0 0.00 44 4 8.33 ELFN2 0 genome.wustl.edu 37 22 37771876 37771877 + RNA INS - - CCT TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 22 37771876 37771877 - CCT INS ELFN2 ENST00000414347 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.043 - - - no_errors ELFN2 HGNC ENSG00000166897 tier1 36 0 0.00 43 5 10.42 ENPEP 0 genome.wustl.edu 37 4 111430838 111430838 + Frame_Shift_Del DEL G G - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 111430838 111430838 G - DEL ENPEP ENST00000265162 human ensembl 74_37 +1 known frame_shift_del c.1069 p.G357fs 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 tier1 96 0 0.00 17 2 10.53 ENPP5 0 genome.wustl.edu 37 6 46133249 46133249 + Missense_Mutation SNP G G C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 46133249 46133249 G C SNP ENPP5 ENST00000230565 human ensembl 74_37 -1 known missense c.881 p.T294S 0.934 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 tier1 - - 79 0 0.00 29 7 19.44 ENSG00000253200 0 genome.wustl.edu 37 8 22473839 22473839 + RNA SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 22473839 22473839 C A SNP ENSG00000253200 ENST00000521025 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-582J16.5 Clone_based_vega_gene ENSG00000253200 tier1 - - 19 0 0.00 9 3 25.00 ENSG00000267879 0 genome.wustl.edu 37 19 51471489 51471489 + RNA SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 51471489 51471489 C T SNP ENSG00000267879 ENST00000594512 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTB-147C22.9 Clone_based_vega_gene ENSG00000267879 tier1 - - 30 0 0.00 25 15 37.50 EPHB2 0 genome.wustl.edu 37 1 23110900 23110900 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 23110900 23110900 G T SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.142 p.G48C 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_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_Tyr-kin_ephrin_A/B_rcpt-like,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 EPHB2 HGNC ENSG00000133216 42 0 0.00 37 3 7.50 ERC2 0 genome.wustl.edu 37 3 55543261 55543262 + RNA INS - - T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 3 55543261 55543262 - T INS ERC2 ENST00000484530 human ensembl 74_37 -1 known rna NULL NULL 0.078:0.002 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 28 0 0.00 16 3 15.79 FAM105A 0 genome.wustl.edu 37 5 14607502 14607502 + Nonsense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 14607502 14607502 G T SNP FAM105A ENST00000274217 human ensembl 74_37 +1 known nonsense c.562 p.E188* 1.000 prints_FAM105A prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ENSG00000145569 tier1 - - 88 0 0.00 44 4 8.33 FAM117A 0 genome.wustl.edu 37 17 47794910 47794910 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 47794910 47794910 G A SNP FAM117A ENST00000240364 human ensembl 74_37 -1 known missense c.875 p.A292V 0.091 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 tier1 - - 47 0 0.00 36 4 10.00 FAM162A 0 genome.wustl.edu 37 3 122121729 122121729 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 3 122121729 122121729 C A SNP FAM162A ENST00000477892 human ensembl 74_37 +1 known missense c.157 p.R53S 0.946 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162A HGNC ENSG00000114023 54 0 0.00 36 3 7.69 FAM26F 0 genome.wustl.edu 37 6 116784539 116784539 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 116784539 116784539 C A SNP FAM26F ENST00000368605 human ensembl 74_37 +1 known missense c.619 p.L207M 0.980 NULL NULL - no_errors FAM26F HGNC ENSG00000188820 tier1 - - 75 0 0.00 60 11 15.49 FAT2 0 genome.wustl.edu 37 5 150945577 150945577 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 150945577 150945577 G T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.2916 p.F972L 0.701 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 24 0 0.00 11 15 57.69 FAT3 0 genome.wustl.edu 37 11 92495313 92495313 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 92495313 92495313 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.3961 p.A1321S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,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,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 32 0 0.00 50 4 7.41 FAT4 0 genome.wustl.edu 37 4 126411719 126411719 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 126411719 126411719 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13742 p.P4581Q 1.000 NULL 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 - - 79 0 0.00 17 3 15.00 FGD3 0 genome.wustl.edu 37 9 95797636 95797636 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 95797636 95797636 G T SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.1943 p.R648L 0.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 62 0 0.00 44 3 6.38 FHDC1 0 genome.wustl.edu 37 4 153864387 153864387 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 153864387 153864387 C A SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.178 p.P60T 0.017 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 tier1 - - 88 0 0.00 48 5 9.43 FLVCR2 0 genome.wustl.edu 37 14 76100017 76100017 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 76100017 76100017 G T SNP FLVCR2 ENST00000238667 human ensembl 74_37 +1 known missense c.998 p.R333L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 87 0 0.00 24 2 7.69 FMN1 0 genome.wustl.edu 37 15 33445353 33445353 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 33445353 33445353 G T SNP FMN1 ENST00000320930 human ensembl 74_37 -1 known missense c.1763 p.A588D 0.967 NULL NULL - no_errors FMN1 HGNC ENSG00000248905 tier1 - - 57 0 0.00 36 4 10.00 FNIP1 0 genome.wustl.edu 37 5 131008399 131008399 + Nonsense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 131008399 131008399 C A SNP FNIP1 ENST00000510461 human ensembl 74_37 -1 known nonsense c.1738 p.E580* 1.000 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 42 0 0.00 18 2 10.00 FSCB 0 genome.wustl.edu 37 14 44974442 44974442 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 44974442 44974442 C T SNP FSCB ENST00000340446 human ensembl 74_37 -1 known silent c.1749 p.E583 0.004 NULL NULL - no_errors FSCB HGNC ENSG00000189139 46 0 0.00 12 2 14.29 GAK 0 genome.wustl.edu 37 4 862466 862466 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 862466 862466 C T SNP GAK ENST00000314167 human ensembl 74_37 -1 known silent c.2256 p.P752 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors GAK HGNC ENSG00000178950 114 0 0.00 48 3 5.88 GFRA1 0 genome.wustl.edu 37 10 117884831 117884831 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 10 117884831 117884831 C T SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known missense c.671 p.R224Q 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 tier1 - - 43 0 0.00 13 15 53.57 GOLGA2P5 0 genome.wustl.edu 37 12 100562920 100562921 + RNA INS - - T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 100562920 100562921 - T INS GOLGA2P5 ENST00000421840 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 tier1 25 0 0.00 24 3 11.11 GOLM1 0 genome.wustl.edu 37 9 88648293 88648293 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 88648293 88648293 G T SNP GOLM1 ENST00000388711 human ensembl 74_37 -1 known missense c.1033 p.L345M 0.000 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 44 0 0.00 16 2 11.11 GREB1 0 genome.wustl.edu 37 2 11767137 11767137 + Silent SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 11767137 11767137 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.4356 p.T1452 0.169 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 72 0 0.00 46 15 24.59 GRIN2B 0 genome.wustl.edu 37 12 13768094 13768094 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 13768094 13768094 G T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known silent c.1608 p.V536 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 - - 56 0 0.00 31 4 11.43 GSDMC 0 genome.wustl.edu 37 8 130789632 130789632 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 130789632 130789632 G A SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.202 p.P68S 0.259 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 - - 48 0 0.00 14 3 17.65 GSTM3 0 genome.wustl.edu 37 1 110280279 110280279 + Missense_Mutation SNP T T C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 110280279 110280279 T C SNP GSTM3 ENST00000256594 human ensembl 74_37 -1 known missense c.467 p.K156R 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,prints_GST_mu pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM3 HGNC ENSG00000134202 14 0 0.00 25 2 7.41 GTF2A1L 0 genome.wustl.edu 37 2 48845183 48845183 + RNA SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 48845183 48845183 G A SNP GTF2A1L ENST00000468326 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GTF2A1L HGNC ENSG00000242441 tier1 - - 51 0 0.00 12 23 65.71 GTF2F1 0 genome.wustl.edu 37 19 6381410 6381412 + In_Frame_Del DEL CTC CTC - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 6381410 6381412 CTC - DEL GTF2F1 ENST00000394456 human ensembl 74_37 -1 known in_frame_del c.978_976 p.E326in_frame_del 1.000:1.000:1.000 pfam_TFIIF-alpha pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 tier1 34 0 0.00 32 2 5.88 GTF3C3 0 genome.wustl.edu 37 2 197649613 197649614 + Frame_Shift_Ins INS - - T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 197649613 197649614 - T INS GTF3C3 ENST00000263956 human ensembl 74_37 -1 known frame_shift_ins c.1082_1081 p.T361fs 0.008:0.044 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 tier1 38 0 0.00 18 3 14.29 GUCA1C 0 genome.wustl.edu 37 3 108639294 108639294 + Frame_Shift_Del DEL C C - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 3 108639294 108639294 C - DEL GUCA1C ENST00000261047 human ensembl 74_37 -1 known frame_shift_del c.343 p.D115fs 0.973 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 tier1 63 0 0.00 17 2 10.53 GZF1 0 genome.wustl.edu 37 20 23345574 23345577 + Frame_Shift_Del DEL GAGA GAGA - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 GAGA GAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 20 23345574 23345577 GAGA - DEL GZF1 ENST00000338121 human ensembl 74_37 +1 known frame_shift_del c.554_557 p.R187fs 0.000:0.000:0.001:0.000 NULL pfam_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 GZF1 HGNC ENSG00000125812 tier1 64 0 0.00 88 17 16.19 HCN4 0 genome.wustl.edu 37 15 73635991 73635991 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 73635991 73635991 C T SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.944 p.R315H 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 tier1 - - 95 0 0.00 64 16 20.00 HCRTR2 0 genome.wustl.edu 37 6 55142396 55142396 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 55142396 55142396 G T SNP HCRTR2 ENST00000370862 human ensembl 74_37 +1 known missense c.981 p.K327N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt - no_errors HCRTR2 HGNC ENSG00000137252 tier1 - - 23 0 0.00 7 3 30.00 HERC1 0 genome.wustl.edu 37 15 64048745 64048745 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 64048745 64048745 G T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.1424 p.T475K 0.750 superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 72 0 0.00 38 2 5.00 HIF1A 0 genome.wustl.edu 37 14 62212426 62212426 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 62212426 62212426 G T SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known missense c.2292 p.Q764H 0.925 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 tier1 - - 46 0 0.00 31 3 8.82 HMGCS2 0 genome.wustl.edu 37 1 120298057 120298057 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 120298057 120298057 G T SNP HMGCS2 ENST00000369406 human ensembl 74_37 -1 known missense c.1180 p.L394M 0.171 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS2 HGNC ENSG00000134240 76 0 0.00 33 2 5.71 HRNR 0 genome.wustl.edu 37 1 152188847 152188847 + Missense_Mutation SNP A A G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 152188847 152188847 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.5258 p.V1753A 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 rs145667921 - 49 0 0.00 40 6 13.04 HTT 0 genome.wustl.edu 37 4 3189472 3189472 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 3189472 3189472 G T SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.5084 p.R1695L 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 68 0 0.00 23 2 8.00 IDE 0 genome.wustl.edu 37 10 94274768 94274768 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 10 94274768 94274768 G T SNP IDE ENST00000265986 human ensembl 74_37 -1 known missense c.693 p.N231K 0.999 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 tier1 - - 75 0 0.00 28 4 12.50 IGFN1 0 genome.wustl.edu 37 1 201181738 201181738 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 201181738 201181738 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.7717 p.A2573T 0.003 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 66 0 0.00 66 4 5.71 IGSF1 0 genome.wustl.edu 37 X 130417199 130417199 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d X 130417199 130417199 G T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.707 p.P236H 0.040 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 20 0 0.00 29 4 12.12 IGSF22 0 genome.wustl.edu 37 11 18727656 18727656 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 18727656 18727656 C T SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known silent c.3618 p.K1206 0.003 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 tier1 - - 49 0 0.00 28 27 49.09 IK 0 genome.wustl.edu 37 5 140037180 140037180 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 140037180 140037180 G T SNP IK ENST00000417647 human ensembl 74_37 +1 known missense c.843 p.K281N 1.000 pfam_RED_N pfam_RED_N,pfam_RED_C - no_errors IK HGNC ENSG00000113141 tier1 - - 70 0 0.00 34 4 10.53 INHBA 0 genome.wustl.edu 37 7 41729394 41729394 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 41729394 41729394 G A SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.1135 p.R379W 0.995 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 tier1 - - 42 0 0.00 7 15 68.18 IP6K3 0 genome.wustl.edu 37 6 33690743 33690743 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 33690743 33690743 G T SNP IP6K3 ENST00000293756 human ensembl 74_37 -1 known silent c.987 p.I329 1.000 pfam_IPK pfam_IPK - no_errors IP6K3 HGNC ENSG00000161896 50 0 0.00 37 3 7.50 IRX1 0 genome.wustl.edu 37 5 3600242 3600242 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 3600242 3600242 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1180 p.V394I 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 tier1 - - 32 0 0.00 9 17 65.38 ITGAD 0 genome.wustl.edu 37 16 31426281 31426281 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 31426281 31426281 C T SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.2252 p.A751V 0.718 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 - - 42 0 0.00 26 4 13.33 JPH2 0 genome.wustl.edu 37 20 42788997 42788997 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 20 42788997 42788997 G A SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.430 p.R144C 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 tier1 - - 56 0 0.00 75 32 29.91 JPH3 0 genome.wustl.edu 37 16 87678031 87678031 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 87678031 87678031 G A SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known missense c.550 p.A184T 0.938 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 tier1 - - 64 0 0.00 25 30 53.57 KAT2B 0 genome.wustl.edu 37 3 20178458 20178458 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 3 20178458 20178458 C A SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known missense c.1774 p.H592N 1.000 pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 33 0 0.00 19 2 9.52 KAT7 0 genome.wustl.edu 37 17 47893244 47893244 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 47893244 47893244 G T SNP KAT7 ENST00000259021 human ensembl 74_37 +1 known missense c.932 p.R311L 1.000 NULL pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase - no_errors KAT7 HGNC ENSG00000136504 39 0 0.00 10 2 16.67 KCNH2 0 genome.wustl.edu 37 7 150648627 150648627 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 150648627 150648627 G T SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known silent c.1854 p.T618 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 77 0 0.00 70 4 5.41 KCNJ8 0 genome.wustl.edu 37 12 21926469 21926469 + Nonsense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 21926469 21926469 G A SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known nonsense c.82 p.R28* 1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 tier1 - - 38 0 0.00 20 35 63.64 KIAA1598 0 genome.wustl.edu 37 10 118644866 118644867 + RNA INS - - T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 10 118644866 118644867 - T INS KIAA1598 ENST00000497044 human ensembl 74_37 -1 known rna NULL NULL 1.000:0.999 - - - no_errors KIAA1598 HGNC ENSG00000187164 tier1 58 0 0.00 39 5 11.36 KLHL23 0 genome.wustl.edu 37 2 170591713 170591713 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 170591713 170591713 G T SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known missense c.189 p.K63N 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 tier1 - - 54 0 0.00 41 4 8.89 KMT2C 0 genome.wustl.edu 37 7 151874148 151874148 + Frame_Shift_Del DEL T T - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 151874148 151874148 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.8390 p.K2797fs 0.019 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 23 0 0.00 17 4 19.05 KNTC1 0 genome.wustl.edu 37 12 123099634 123099637 + Splice_Site DEL GTAA GTAA - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 123099634 123099637 GTAA - DEL KNTC1 ENST00000333479 human ensembl 74_37 +1 known splice_site_del c.5973+1_5973+1 e55+1 1.000:1.000:0.996:1.000 - - - no_errors KNTC1 HGNC ENSG00000184445 tier1 50 0 0.00 31 9 22.50 KPNA1 0 genome.wustl.edu 37 3 122146488 122146488 + Silent SNP A A T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 3 122146488 122146488 A T SNP KPNA1 ENST00000344337 human ensembl 74_37 -1 known silent c.1326 p.V442 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA1 HGNC ENSG00000114030 44 0 0.00 18 2 10.00 LBR 0 genome.wustl.edu 37 1 225611623 225611623 + Missense_Mutation SNP T T C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 225611623 225611623 T C SNP LBR ENST00000272163 human ensembl 74_37 -1 known missense c.155 p.N52S 0.681 pfam_Lamin-B_rcpt_of_tudor,smart_Tudor pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 tier1 - - 53 0 0.00 41 8 16.33 LEPRE1 0 genome.wustl.edu 37 1 43228043 43228043 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 43228043 43228043 G T SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known missense c.569 p.S190Y 0.997 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 tier1 - - 60 0 0.00 51 4 7.27 LINC00957 0 genome.wustl.edu 37 7 44080367 44080367 + RNA SNP A A G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 44080367 44080367 A G SNP LINC00957 ENST00000416824 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors LINC00957 HGNC ENSG00000235314 32 0 0.00 25 5 16.67 LMBR1L 0 genome.wustl.edu 37 12 49500756 49500756 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 49500756 49500756 C T SNP LMBR1L ENST00000267102 human ensembl 74_37 -1 known missense c.145 p.E49K 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC ENSG00000139636 tier1 - - 115 0 0.00 90 13 12.62 LOC100652824 0 genome.wustl.edu 37 2 202964402 202964402 + Nonsense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 202964402 202964402 C T SNP LOC100652824 ENST00000541917 human ensembl 74_37 +1 known nonsense c.895 p.Q299* 0.078 NULL NULL - no_errors AC079354.1 Clone_based_vega_gene ENSG00000182329 tier1 - - 72 0 0.00 50 4 7.41 LOC101929636 0 genome.wustl.edu 37 20 30616960 30616960 + RNA SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 20 30616960 30616960 G T SNP LOC101929636 ENST00000449519 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-310O13.7 Clone_based_vega_gene ENSG00000226239 tier1 - - 29 0 0.00 57 4 6.56 LOC101929676 0 genome.wustl.edu 37 4 119552246 119552246 + RNA SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 119552246 119552246 C T SNP LOC101929676 ENST00000567913 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors RP11-384K6.6 Clone_based_vega_gene ENSG00000260404 45 0 0.00 20 4 16.67 LOC101929888 0 genome.wustl.edu 37 17 78178223 78178223 + RNA SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 78178223 78178223 G T SNP LOC101929888 ENST00000570309 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-334C17.5 Clone_based_vega_gene ENSG00000262580 tier1 - - 45 0 0.00 59 4 6.35 LOC101930053 0 genome.wustl.edu 37 9 2622147 2622149 + RNA DEL CGG CGG - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 CGG CGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 2622147 2622149 CGG - DEL LOC101930053 ENST00000453601 human ensembl 74_37 -1 known rna NULL NULL 0.995:0.997:0.998 - - - no_errors RP11-125B21.2 Clone_based_vega_gene ENSG00000236404 tier1 33 0 0.00 9 2 18.18 LPIN1 0 genome.wustl.edu 37 2 11913846 11913846 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 11913846 11913846 G T SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.844 p.D282Y 0.935 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 55 0 0.00 33 4 10.81 LRP1B 0 genome.wustl.edu 37 2 141598621 141598621 + Silent SNP T T C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 141598621 141598621 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.4980 p.S1660 0.918 smart_LDLR_classB_rpt,pfscan_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 - - 41 0 0.00 12 11 47.83 LRRC32 0 genome.wustl.edu 37 11 76376953 76376953 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 76376953 76376953 G T SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.46 p.L16M 0.999 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 56 0 0.00 24 4 14.29 LRRTM1 0 genome.wustl.edu 37 2 80529687 80529687 + Missense_Mutation SNP C C G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 80529687 80529687 C G SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.1258 p.E420Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 29 0 0.00 24 8 25.00 LTBP3 0 genome.wustl.edu 37 11 65307271 65307271 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 65307271 65307271 G A SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.3467 p.A1156V 0.001 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 9 0 0.00 5 5 50.00 LZTR1 0 genome.wustl.edu 37 22 21343119 21343119 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 22 21343119 21343119 G T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.551 p.S184I 0.999 smart_Kelch_1 pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 60 0 0.00 44 4 8.33 MACF1 0 genome.wustl.edu 37 1 39715766 39715766 + Silent SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 39715766 39715766 C A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known silent c.363 p.G121 0.998 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 57 0 0.00 27 3 10.00 MBD3L2 0 genome.wustl.edu 37 19 7051393 7051393 + Silent SNP A A G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 7051393 7051393 A G SNP MBD3L2 ENST00000381393 human ensembl 74_37 +1 known silent c.387 p.R129 0.000 NULL NULL - no_errors MBD3L2 HGNC ENSG00000230522 tier1 - - 18 0 0.00 1 5 83.33 MBD3L5 0 genome.wustl.edu 37 19 7032880 7032880 + Missense_Mutation SNP A A G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 7032880 7032880 A G SNP MBD3L5 ENST00000329753 human ensembl 74_37 +1 known missense c.602 p.Q201R 0.012 NULL NULL - no_errors MBD3L5 HGNC ENSG00000237247 66 0 0.00 8 3 27.27 MC1R 0 genome.wustl.edu 37 16 89986519 89986519 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 89986519 89986519 G T SNP MC1R ENST00000555147 human ensembl 74_37 +1 known missense c.853 p.A285S 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melancort_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC1R HGNC ENSG00000258839 55 0 0.00 30 2 6.25 MITD1 0 genome.wustl.edu 37 2 99790475 99790475 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 99790475 99790475 G T SNP MITD1 ENST00000289359 human ensembl 74_37 -1 known silent c.156 p.T52 0.994 pfam_MIT,smart_MIT pfam_MIT,smart_MIT - no_errors MITD1 HGNC ENSG00000158411 tier1 - - 36 0 0.00 17 3 15.00 MKI67IP 0 genome.wustl.edu 37 2 122493190 122493190 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 122493190 122493190 C T SNP MKI67IP ENST00000285814 human ensembl 74_37 -1 known missense c.242 p.R81K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MKI67IP HGNC ENSG00000155438 tier1 - - 104 0 0.00 63 32 33.33 MMD2 0 genome.wustl.edu 37 7 4965104 4965104 + Missense_Mutation SNP G G C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 4965104 4965104 G C SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.107 p.A36G 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 41 0 0.00 35 2 5.41 MMP16 0 genome.wustl.edu 37 8 89068395 89068395 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 89068395 89068395 C A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1334 p.W445L 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 62 0 0.00 20 2 9.09 MMP17 0 genome.wustl.edu 37 12 132325284 132325284 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 132325284 132325284 G A SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known missense c.589 p.G197S 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 tier1 - - 117 0 0.00 57 108 65.45 MMP25 0 genome.wustl.edu 37 16 3097523 3097523 + Silent SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 3097523 3097523 G A SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known silent c.207 p.A69 0.007 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP25 HGNC ENSG00000008516 tier1 - - 129 0 0.00 28 47 62.67 MST1L 0 genome.wustl.edu 37 1 17084043 17084043 + RNA SNP C C G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 17084043 17084043 C G SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.114 - - - no_errors MST1L HGNC ENSG00000186715 tier1 - - 179 0 0.00 225 13 5.46 MTNR1A 0 genome.wustl.edu 37 4 187455160 187455160 + Missense_Mutation SNP G G C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 187455160 187455160 G C SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known missense c.736 p.L246V 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 tier1 - - 31 0 0.00 4 5 55.56 MUC12 0 genome.wustl.edu 37 7 100612955 100612956 + In_Frame_Ins INS - - CTG TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 100612955 100612956 - CTG INS MUC12 ENST00000536621 human ensembl 74_37 +1 known in_frame_ins c.52_53 p.19in_frame_insA 0.000:0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 34 0 0.00 36 5 12.20 MYO18A 0 genome.wustl.edu 37 17 27423864 27423864 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 27423864 27423864 G T SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known silent c.4300 p.R1434 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 37 0 0.00 26 2 7.14 MYO9B 0 genome.wustl.edu 37 19 17278782 17278782 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 17278782 17278782 G T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.1701 p.W567C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 65 0 0.00 35 4 10.26 NBPF9 0 genome.wustl.edu 37 1 144822162 144822162 + RNA SNP C C G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 144822162 144822162 C G SNP NBPF9 ENST00000488888 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NBPF9 HGNC ENSG00000168614 tier1 - - 13 0 0.00 2 2 50.00 NCKAP5 0 genome.wustl.edu 37 2 133618112 133618112 + Missense_Mutation SNP T T A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 133618112 133618112 T A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.760 p.I254F 0.998 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 38 0 0.00 13 10 43.48 NCOR2 0 genome.wustl.edu 37 12 124820115 124820115 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 124820115 124820115 C A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.6200 p.S2067I 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 102 0 0.00 57 84 59.57 NDUFS3 0 genome.wustl.edu 37 11 47600657 47600657 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 47600657 47600657 C T SNP NDUFS3 ENST00000263774 human ensembl 74_37 +1 known missense c.14 p.A5V 0.150 NULL pfam_NADH_UbQ_OxRdtase_30kDa_su,tigrfam_NADH_DH_suC - no_errors NDUFS3 HGNC ENSG00000213619 tier1 - - 39 0 0.00 48 5 9.43 NES 0 genome.wustl.edu 37 1 156642916 156642916 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 156642916 156642916 G T SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.1064 p.S355Y 0.504 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 tier1 - - 43 0 0.00 49 4 7.55 NFAT5 0 genome.wustl.edu 37 16 69703968 69703968 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 69703968 69703968 G T SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.1458 p.K486N 0.999 superfamily_Ig_E-set,smart_IPT,prints_NFAT pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 53 0 0.00 28 2 6.67 NLRP12 0 genome.wustl.edu 37 19 54313956 54313956 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 54313956 54313956 G T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known silent c.957 p.P319 0.235 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 tier1 - - 42 0 0.00 44 4 8.16 NLRX1 0 genome.wustl.edu 37 11 119045798 119045798 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 119045798 119045798 G T SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.1486 p.A496S 0.980 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 tier1 - - 77 0 0.00 59 4 6.35 NOX3 0 genome.wustl.edu 37 6 155743884 155743884 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 155743884 155743884 G T SNP NOX3 ENST00000159060 human ensembl 74_37 -1 known missense c.1252 p.L418M 1.000 pfam_Fe_red_NAD-bd_6,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 tier1 - - 48 0 0.00 19 3 13.64 NPDC1 0 genome.wustl.edu 37 9 139934198 139934198 + RNA SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 139934198 139934198 C A SNP NPDC1 ENST00000472668 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NPDC1 HGNC ENSG00000107281 tier1 - - 69 0 0.00 36 4 9.76 NPIPB6 0 genome.wustl.edu 37 16 28354350 28354350 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 28354350 28354350 C T SNP NPIPB6 ENST00000532254 human ensembl 74_37 -1 novel missense c.856 p.E286K 0.002 NULL NULL - no_errors NPIPB6 HGNC ENSG00000198156 100 0 0.00 44 5 10.20 NR2C1 0 genome.wustl.edu 37 12 95416047 95416047 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 95416047 95416047 C A SNP NR2C1 ENST00000333003 human ensembl 74_37 -1 known missense c.1770 p.E590D 0.996 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC ENSG00000120798 44 0 0.00 39 3 7.14 NUP188 0 genome.wustl.edu 37 9 131745618 131745618 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 131745618 131745618 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.1843 p.V615I 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 64 0 0.00 29 2 6.45 OBSCN 0 genome.wustl.edu 37 1 228494222 228494222 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 228494222 228494222 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.11809 p.P3937S 0.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 32 0 0.00 22 4 15.38 OR2L3 0 genome.wustl.edu 37 1 248224713 248224713 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 248224713 248224713 C A SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known missense c.730 p.L244I 0.911 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 OR2L3 HGNC ENSG00000198128 97 0 0.00 37 2 5.13 OR4K5 0 genome.wustl.edu 37 14 20389688 20389688 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 20389688 20389688 C A SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known missense c.923 p.P308Q 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 77 0 0.00 18 2 10.00 OR8B4 0 genome.wustl.edu 37 11 124294459 124294459 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 124294459 124294459 G T SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known missense c.309 p.F103L 0.623 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 tier1 - - 21 0 0.00 12 3 18.75 OSBPL5 0 genome.wustl.edu 37 11 3113730 3113730 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 3113730 3113730 G A SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known missense c.2191 p.R731W 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 tier1 - - 160 0 0.00 68 74 51.75 OTOA 0 genome.wustl.edu 37 16 21712311 21712311 + Missense_Mutation SNP T T C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 21712311 21712311 T C SNP OTOA ENST00000286149 human ensembl 74_37 +1 known missense c.943 p.S315P 0.993 NULL NULL - no_errors OTOA HGNC ENSG00000155719 tier1 - - 34 0 0.00 17 4 19.05 OTOF 0 genome.wustl.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 26693554 26693556 CTT - DEL OTOF ENST00000272371 human ensembl 74_37 -1 known in_frame_del c.3930_3928 p.K1310in_frame_del 0.998:1.000:1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 20 0 0.00 16 3 15.79 PAXIP1 0 genome.wustl.edu 37 7 154760267 154760269 + In_Frame_Del DEL CTG CTG - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 154760267 154760269 CTG - DEL PAXIP1 ENST00000397192 human ensembl 74_37 -1 known in_frame_del c.1644_1642 p.Q548in_frame_del 0.709:0.971:0.997 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 32 0 0.00 23 3 11.54 PCDHB14 0 genome.wustl.edu 37 5 140605202 140605202 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 140605202 140605202 G A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.2125 p.V709M 0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 115 0 0.00 50 16 24.24 PDE5A 0 genome.wustl.edu 37 4 120528199 120528199 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 120528199 120528199 G T SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known missense c.406 p.L136I 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 tier1 - - 60 0 0.00 15 3 16.67 PEBP1 0 genome.wustl.edu 37 12 118582594 118582594 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 118582594 118582594 C T SNP PEBP1 ENST00000261313 human ensembl 74_37 +1 known silent c.550 p.L184 1.000 superfamily_PtdEtn-bd_prot_PEBP pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors PEBP1 HGNC ENSG00000089220 tier1 - - 56 0 0.00 48 4 7.69 PGK1 0 genome.wustl.edu 37 X 77369397 77369397 + Splice_Site SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d X 77369397 77369397 G T SNP PGK1 ENST00000373316 human ensembl 74_37 +1 known splice_site c.272+1 e3+1 1.000 - - - no_errors PGK1 HGNC ENSG00000102144 24 0 0.00 42 4 8.70 PIGS 0 genome.wustl.edu 37 17 26898142 26898142 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 26898142 26898142 C T SNP PIGS ENST00000308360 human ensembl 74_37 -1 known silent c.99 p.P33 0.077 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 100 0 0.00 73 4 5.19 PIPSL 0 genome.wustl.edu 37 10 95720561 95720561 + RNA SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 10 95720561 95720561 G T SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors PIPSL HGNC ENSG00000180764 109 0 0.00 54 4 6.90 PITPNM3 0 genome.wustl.edu 37 17 6386932 6386932 + Silent SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 6386932 6386932 G A SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.492 p.V164 1.000 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 tier1 - - 86 0 0.00 46 14 23.33 PKHD1L1 0 genome.wustl.edu 37 8 110465003 110465003 + Frame_Shift_Del DEL A A - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 110465003 110465003 A - DEL PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known frame_shift_del c.6564 p.K2189fs 0.001 pfam_G8_domain pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 67 0 0.00 27 7 20.59 PLA2G2F 0 genome.wustl.edu 37 1 20474883 20474883 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 20474883 20474883 G A SNP PLA2G2F ENST00000375102 human ensembl 74_37 +1 known missense c.625 p.A209T 0.000 NULL pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2F HGNC ENSG00000158786 tier1 - - 48 0 0.00 29 14 31.82 PLEK2 0 genome.wustl.edu 37 14 67854146 67854146 + Missense_Mutation SNP A A T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 67854146 67854146 A T SNP PLEK2 ENST00000216446 human ensembl 74_37 -1 known missense c.962 p.L321H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK2 HGNC ENSG00000100558 tier1 - - 67 0 0.00 1 15 93.75 PLXNB2 0 genome.wustl.edu 37 22 50727557 50727557 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 22 50727557 50727557 G T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.1083 p.S361R 0.975 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 - - 58 0 0.00 66 4 5.71 POM121L9P 0 genome.wustl.edu 37 22 24657714 24657714 + RNA SNP C C G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 22 24657714 24657714 C G SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 tier1 rs80002636 - 67 0 0.00 52 7 11.86 POMGNT1 0 genome.wustl.edu 37 1 46662690 46662690 + Nonsense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 46662690 46662690 G A SNP POMGNT1 ENST00000371986 human ensembl 74_37 -1 known nonsense c.187 p.R63* 0.535 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 tier1 rs193919337 - 113 0 0.00 79 16 16.84 PPCDC 0 genome.wustl.edu 37 15 75320765 75320765 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 75320765 75320765 C A SNP PPCDC ENST00000342932 human ensembl 74_37 +1 known missense c.106 p.L36M 1.000 pfam_Flavoprotein,superfamily_Flavoprotein pfam_Flavoprotein,superfamily_Flavoprotein - no_errors PPCDC HGNC ENSG00000138621 tier1 - - 52 0 0.00 55 4 6.78 PPP1R12A 0 genome.wustl.edu 37 12 80211231 80211231 + Silent SNP A A G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 80211231 80211231 A G SNP PPP1R12A ENST00000261207 human ensembl 74_37 -1 known silent c.1182 p.A394 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC ENSG00000058272 tier1 - - 26 0 0.00 20 4 16.67 PPP3CC 0 genome.wustl.edu 37 8 22398187 22398187 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 22398187 22398187 G T SNP PPP3CC ENST00000240139 human ensembl 74_37 +1 known missense c.1411 p.D471Y 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 tier1 - - 23 0 0.00 3 4 57.14 PRDM7 0 genome.wustl.edu 37 16 90128361 90128361 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 90128361 90128361 C T SNP PRDM7 ENST00000449207 human ensembl 74_37 -1 known missense c.850 p.E284K 0.376 pfscan_SET_dom pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM7 HGNC ENSG00000126856 tier1 - - 63 0 0.00 26 6 18.75 PRKACA 0 genome.wustl.edu 37 19 14208613 14208613 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 14208613 14208613 G T SNP PRKACA ENST00000308677 human ensembl 74_37 -1 known missense c.509 p.P170Q 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 62 0 0.00 33 2 5.71 PRKXP1 0 genome.wustl.edu 37 15 101088125 101088126 + RNA INS - - T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 101088125 101088126 - T INS PRKXP1 ENST00000602585 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-526I2.5 Clone_based_vega_gene ENSG00000270127 tier1 21 0 0.00 21 3 12.50 PTPRD 0 genome.wustl.edu 37 9 8317914 8317914 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 8317914 8317914 G T SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.5699 p.A1900E 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt 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,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 20 0 0.00 11 3 21.43 RAD54B 0 genome.wustl.edu 37 8 95419670 95419670 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 95419670 95419670 G T SNP RAD54B ENST00000336148 human ensembl 74_37 -1 known missense c.778 p.P260T 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54B HGNC ENSG00000197275 tier1 - - 35 0 0.00 25 4 13.79 RALGAPA1 0 genome.wustl.edu 37 14 36153162 36153162 + Frame_Shift_Del DEL T T - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 36153162 36153162 T - DEL RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known frame_shift_del c.2947 p.T983fs 0.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 tier1 28 0 0.00 5 2 28.57 RAPGEF4 0 genome.wustl.edu 37 2 173679105 173679105 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 173679105 173679105 C A SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.396 p.S132R 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 tier1 - - 37 0 0.00 15 5 25.00 RARS 0 genome.wustl.edu 37 5 167915644 167915644 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 167915644 167915644 G T SNP RARS ENST00000231572 human ensembl 74_37 +1 known missense c.83 p.R28L 0.565 NULL pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS HGNC ENSG00000113643 tier1 - - 89 0 0.00 62 4 6.06 RAVER2 0 genome.wustl.edu 37 1 65268729 65268729 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 65268729 65268729 G T SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known missense c.1176 p.L392F 0.994 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 55 0 0.00 22 2 8.33 RBM27 0 genome.wustl.edu 37 5 145651199 145651199 + Frame_Shift_Del DEL A A - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 145651199 145651199 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2950 p.I984fs 0.297 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 41 0 0.00 13 2 13.33 RBM45 0 genome.wustl.edu 37 2 178981028 178981028 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 178981028 178981028 G T SNP RBM45 ENST00000286070 human ensembl 74_37 +1 known missense c.340 p.D114Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 37 0 0.00 32 2 5.88 RGPD3 0 genome.wustl.edu 37 2 107040824 107040824 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 107040824 107040824 C T SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.3599 p.S1200N 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 63 0 0.00 29 35 54.69 RMND5A 0 genome.wustl.edu 37 2 86980658 86980658 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 86980658 86980658 C T SNP RMND5A ENST00000283632 human ensembl 74_37 +1 known silent c.498 p.V166 1.000 smart_CTLH_C,pfscan_CTLH_C smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5A HGNC ENSG00000153561 tier1 - - 37 0 0.00 10 4 28.57 RPAP1 0 genome.wustl.edu 37 15 41827072 41827072 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 41827072 41827072 G T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.603 p.S201R 0.001 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 tier1 - - 47 0 0.00 35 4 10.26 RPL7L1 0 genome.wustl.edu 37 6 42852469 42852469 + Nonsense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 42852469 42852469 G T SNP RPL7L1 ENST00000304734 human ensembl 74_37 +1 known nonsense c.403 p.E135* 1.000 pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7L1 HGNC ENSG00000146223 tier1 - - 94 0 0.00 65 4 5.80 RTN1 0 genome.wustl.edu 37 14 60212584 60212584 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 60212584 60212584 G T SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.857 p.T286K 0.998 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 30 0 0.00 15 2 11.76 RTN4 0 genome.wustl.edu 37 2 55200965 55200965 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 55200965 55200965 G A SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known missense c.3469 p.R1157W 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 42 0 0.00 34 2 5.56 RWDD2A 0 genome.wustl.edu 37 6 83904241 83904241 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 83904241 83904241 C A SNP RWDD2A ENST00000369724 human ensembl 74_37 +1 known missense c.71 p.P24H 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2A HGNC ENSG00000013392 tier1 - - 76 0 0.00 57 4 6.56 RXFP3 0 genome.wustl.edu 37 5 33937128 33937128 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 33937128 33937128 G T SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.283 p.G95W 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 tier1 - - 59 0 0.00 25 4 13.79 RYR2 0 genome.wustl.edu 37 1 237936939 237936939 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 237936939 237936939 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.11784 p.E3928D 0.999 pfam_RIH_assoc-dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 45 0 0.00 27 4 12.90 RYR2 0 genome.wustl.edu 37 1 237758806 237758806 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 237758806 237758806 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.4439 p.R1480H 1.000 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 29 0 0.00 8 2 20.00 SARDH 0 genome.wustl.edu 37 9 136559399 136559399 + Silent SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 136559399 136559399 C A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.1902 p.P634 0.284 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 tier1 - - 155 0 0.00 41 46 50.55 SCN3A 0 genome.wustl.edu 37 2 165986560 165986560 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 165986560 165986560 G A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.2812 p.R938C 1.000 pfam_Ion_trans_dom 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 - - 83 0 0.00 24 17 41.46 SCN3A 0 genome.wustl.edu 37 2 166018865 166018865 + Missense_Mutation SNP C C G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 166018865 166018865 C G SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.984 p.L328F 1.000 pfam_Ion_trans_dom 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 - - 46 0 0.00 20 12 37.50 SCN9A 0 genome.wustl.edu 37 2 167083216 167083216 + Splice_Site SNP T T C TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 167083216 167083216 T C SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known splice_site c.4264-2 e23-2 1.000 - - - no_errors SCN9A HGNC ENSG00000169432 44 0 0.00 33 2 5.71 SDK1 0 genome.wustl.edu 37 7 3990596 3990596 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 3990596 3990596 G T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.889 p.V297F 0.881 pfscan_Ig-like_dom 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 91 0 0.00 75 4 5.06 SEMA4D 0 genome.wustl.edu 37 9 91993636 91993636 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 91993636 91993636 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.2572 p.D858N 0.997 NULL pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 tier1 - - 59 0 0.00 40 4 9.09 SERPINA3 0 genome.wustl.edu 37 14 95090124 95090124 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 95090124 95090124 C A SNP SERPINA3 ENST00000393078 human ensembl 74_37 +1 known missense c.1245 p.S415R 0.997 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 47 0 0.00 15 2 11.76 SF3A1 0 genome.wustl.edu 37 22 30736220 30736220 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 22 30736220 30736220 C T SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known missense c.1340 p.R447H 1.000 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 tier1 - - 40 0 0.00 12 16 57.14 SIK3 0 genome.wustl.edu 37 11 116730026 116730026 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 116730026 116730026 C T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.2576 p.R859H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 9 0 0.00 29 5 14.71 SLC19A1 0 genome.wustl.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 21 46951916 46951918 CAG - DEL SLC19A1 ENST00000311124 human ensembl 74_37 -1 known in_frame_del c.336_334 p.L112in_frame_del 0.002:0.005:0.002 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 tier1 40 0 0.00 15 3 16.67 SLC27A3 0 genome.wustl.edu 37 1 153747831 153747831 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 153747831 153747831 G T SNP SLC27A3 ENST00000271857 human ensembl 74_37 +1 novel missense c.242 p.G81V 0.999 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 37 0 0.00 34 4 10.53 SLC38A10 0 genome.wustl.edu 37 17 79225168 79225168 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 79225168 79225168 C T SNP SLC38A10 ENST00000288439 human ensembl 74_37 -1 known silent c.2190 p.P730 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 64 0 0.00 75 4 5.06 SLC7A2 0 genome.wustl.edu 37 8 17400943 17400943 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 17400943 17400943 G T SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known missense c.215 p.R72L 1.000 tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 88 0 0.00 49 3 5.66 SLC8A2 0 genome.wustl.edu 37 19 47960696 47960696 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 47960696 47960696 C T SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known silent c.831 p.P277 0.993 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 tier1 - - 24 0 0.00 5 16 76.19 SLCO1C1 0 genome.wustl.edu 37 12 20903702 20903702 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 20903702 20903702 G T SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.1892 p.R631I 1.000 pfam_OA_transporter,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 46 0 0.00 38 3 7.32 SLCO3A1 0 genome.wustl.edu 37 15 92706314 92706314 + Silent SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 15 92706314 92706314 C A SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known silent c.2082 p.I694 1.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 - - 64 0 0.00 34 4 10.53 SLITRK6 0 genome.wustl.edu 37 13 86369531 86369531 + Silent SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 13 86369531 86369531 C A SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known silent c.1113 p.A371 0.294 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 32 0 0.00 5 2 28.57 SMPDL3A 0 genome.wustl.edu 37 6 123122527 123122527 + Nonsense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 123122527 123122527 G T SNP SMPDL3A ENST00000368440 human ensembl 74_37 +1 known nonsense c.544 p.E182* 1.000 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3A HGNC ENSG00000172594 88 0 0.00 33 2 5.71 SNCAIP 0 genome.wustl.edu 37 5 121786373 121786373 + Frame_Shift_Del DEL G G - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 5 121786373 121786373 G - DEL SNCAIP ENST00000379533 human ensembl 74_37 +1 known frame_shift_del c.1972 p.A658fs 0.838 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 tier1 52 0 0.00 16 2 11.11 SNX29 0 genome.wustl.edu 37 16 12136831 12136831 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 12136831 12136831 G T SNP SNX29 ENST00000566228 human ensembl 74_37 +1 putative missense c.325 p.A109S 0.946 pfam_Run,pfscan_Run pfam_Run,pfam_Phox,superfamily_Phox,smart_Run,smart_Phox,pfscan_Phox,pfscan_Run - no_errors SNX29 HGNC ENSG00000048471 94 0 0.00 51 3 5.56 SPAG9 0 genome.wustl.edu 37 17 49059942 49059942 + Silent SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 49059942 49059942 G A SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known silent c.3180 p.V1060 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 tier1 - - 50 0 0.00 12 10 45.45 SPATA2 0 genome.wustl.edu 37 20 48522354 48522354 + Silent SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 20 48522354 48522354 C A SNP SPATA2 ENST00000289431 human ensembl 74_37 -1 known silent c.1365 p.T455 0.062 NULL NULL - no_errors SPATA2 HGNC ENSG00000158480 21 0 0.00 28 2 6.45 SPON1 0 genome.wustl.edu 37 11 14284473 14284473 + RNA SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 14284473 14284473 C T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SPON1 HGNC ENSG00000152268 tier1 - - 50 0 0.00 16 9 36.00 ST7 0 genome.wustl.edu 37 7 116759698 116759698 + Silent SNP A A T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 116759698 116759698 A T SNP ST7 ENST00000265437 human ensembl 74_37 +1 known silent c.318 p.G106 0.999 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 tier1 - - 27 0 0.00 9 7 41.18 STAB2 0 genome.wustl.edu 37 12 104152935 104152935 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 104152935 104152935 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.7132 p.H2378Y 1.000 superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 55 0 0.00 41 4 8.89 STX17 0 genome.wustl.edu 37 9 102730928 102730928 + Silent SNP C C G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 102730928 102730928 C G SNP STX17 ENST00000259400 human ensembl 74_37 +1 known silent c.882 p.P294 0.995 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX17 HGNC ENSG00000136874 tier1 - - 45 0 0.00 3 9 75.00 SYNE2 0 genome.wustl.edu 37 14 64619312 64619312 + Frame_Shift_Del DEL A A - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 64619312 64619312 A - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_del c.15670 p.A5225fs 0.994 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 18 0 0.00 3 2 40.00 SYNE3 0 genome.wustl.edu 37 14 95932292 95932292 + Nonsense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 14 95932292 95932292 G T SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known nonsense c.603 p.Y201* 0.659 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 42 0 0.00 27 2 6.90 SYT2 0 genome.wustl.edu 37 1 202571541 202571541 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 202571541 202571541 G T SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known missense c.598 p.L200M 0.997 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 45 0 0.00 19 2 9.52 TBC1D15 0 genome.wustl.edu 37 12 72287037 72287037 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 72287037 72287037 G T SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known missense c.590 p.C197F 1.000 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 tier1 - - 12 0 0.00 5 4 44.44 TBC1D30 0 genome.wustl.edu 37 12 65264400 65264400 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 65264400 65264400 G T SNP TBC1D30 ENST00000229088 human ensembl 74_37 +1 known missense c.1799 p.S600I 0.998 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D30 HGNC ENSG00000111490 tier1 - - 38 0 0.00 17 3 15.00 TEKT1 0 genome.wustl.edu 37 17 6733588 6733588 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 6733588 6733588 G T SNP TEKT1 ENST00000338694 human ensembl 74_37 -1 known silent c.108 p.R36 0.998 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC ENSG00000167858 tier1 - - 40 0 0.00 17 3 15.00 TENM4 0 genome.wustl.edu 37 11 78369591 78369591 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 78369591 78369591 G T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.7822 p.H2608N 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 60 0 0.00 11 16 59.26 TMEM50A 0 genome.wustl.edu 37 1 25669536 25669536 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 25669536 25669536 G T SNP TMEM50A ENST00000374358 human ensembl 74_37 +1 known missense c.178 p.G60C 1.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50A HGNC ENSG00000183726 tier1 - - 75 0 0.00 57 4 6.56 TNRC18 0 genome.wustl.edu 37 7 5360056 5360056 + Missense_Mutation SNP A A G TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 5360056 5360056 A G SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.6638 p.I2213T 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 93 0 0.00 60 4 6.25 TOP2B 0 genome.wustl.edu 37 3 25651062 25651062 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 3 25651062 25651062 G T SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.3928 p.P1310T 1.000 NULL pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 tier1 - - 47 0 0.00 19 3 13.64 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs11540652 - 58 0 0.00 2 29 93.55 TRERF1 0 genome.wustl.edu 37 6 42227217 42227217 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 6 42227217 42227217 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.2189 p.P730L 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 tier1 - - 34 0 0.00 5 29 85.29 TRIM17 0 genome.wustl.edu 37 1 228595948 228595948 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 228595948 228595948 G T SNP TRIM17 ENST00000295033 human ensembl 74_37 -1 known missense c.1388 p.S463Y 0.477 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 90 0 0.00 71 5 6.58 TRIM43 0 genome.wustl.edu 37 2 96265165 96265165 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 96265165 96265165 C T SNP TRIM43 ENST00000272395 human ensembl 74_37 +1 known silent c.1185 p.Y395 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM43 HGNC ENSG00000144015 tier1 rs200456827 - 12 0 0.00 8 9 52.94 TRIM63 0 genome.wustl.edu 37 1 26387815 26387815 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 26387815 26387815 G T SNP TRIM63 ENST00000374272 human ensembl 74_37 -1 known missense c.343 p.Q115K 1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM63 HGNC ENSG00000158022 43 0 0.00 29 2 6.45 TRO 0 genome.wustl.edu 37 X 54951451 54951451 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d X 54951451 54951451 G A SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.1435 p.D479N 0.991 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 21 0 0.00 16 3 15.79 TSFM 0 genome.wustl.edu 37 12 58180908 58180908 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 58180908 58180908 G T SNP TSFM ENST00000323833 human ensembl 74_37 +1 known missense c.446 p.C149F 1.000 pfam_Transl_elong_EFTs/EF1B_dimer,superfamily_Transl_elong_EFTs/EF1B_dimer pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/Ts_N,superfamily_Transl_elong_EFTs/EF1B_dimer,superfamily_UBA-like - no_errors TSFM HGNC ENSG00000123297 tier1 - - 77 0 0.00 52 4 7.14 TSHZ2 0 genome.wustl.edu 37 20 51871739 51871739 + Missense_Mutation SNP A A T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 20 51871739 51871739 A T SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.1742 p.K581M 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 - - 43 0 0.00 40 6 13.04 TSKU 0 genome.wustl.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 11 76506673 76506675 CTG - DEL TSKU ENST00000333090 human ensembl 74_37 +1 known in_frame_del c.13_15 p.L8in_frame_del 0.997:1.000:0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors TSKU HGNC ENSG00000182704 tier1 69 0 0.00 31 2 6.06 TUBGCP2 0 genome.wustl.edu 37 10 135095762 135095762 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 10 135095762 135095762 C A SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known missense c.2458 p.A820S 0.504 NULL pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 66 0 0.00 76 4 5.00 TUSC1 0 genome.wustl.edu 37 9 25677715 25677715 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 9 25677715 25677715 G T SNP TUSC1 ENST00000358022 human ensembl 74_37 -1 known missense c.605 p.S202Y 0.007 NULL NULL - no_errors TUSC1 HGNC ENSG00000198680 22 0 0.00 13 2 13.33 UBTF 0 genome.wustl.edu 37 17 42284616 42284616 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 17 42284616 42284616 G T SNP UBTF ENST00000527034 human ensembl 74_37 -1 novel missense c.2174 p.P725Q 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 tier1 - - 89 0 0.00 52 4 7.14 UNC13A 0 genome.wustl.edu 37 19 17760330 17760330 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 17760330 17760330 G T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known silent c.1770 p.L590 0.990 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 72 0 0.00 62 4 6.06 UROD 0 genome.wustl.edu 37 1 45479967 45479967 + RNA DEL T T - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 45479967 45479967 T - DEL UROD ENST00000472254 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors UROD HGNC ENSG00000126088 tier1 21 0 0.00 24 5 17.24 USH2A 0 genome.wustl.edu 37 1 215802171 215802171 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 1 215802171 215802171 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.15576 p.G5192 0.998 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 50 0 0.00 24 2 7.69 UTP20 0 genome.wustl.edu 37 12 101706008 101706008 + Nonsense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 12 101706008 101706008 G T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known nonsense c.2506 p.E836* 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 tier1 - - 51 0 0.00 48 4 7.69 VKORC1L1 0 genome.wustl.edu 37 7 65419356 65419356 + Missense_Mutation SNP A A T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 7 65419356 65419356 A T SNP VKORC1L1 ENST00000434382 human ensembl 74_37 +1 novel missense c.490 p.I164F 0.932 NULL pfam_VKOR - no_errors VKORC1L1 HGNC ENSG00000196715 33 0 0.00 21 3 12.00 WDR17 0 genome.wustl.edu 37 4 177072975 177072975 + Nonsense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 177072975 177072975 G T SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known nonsense c.2389 p.E797* 1.000 NULL 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 WDR17 HGNC ENSG00000150627 45 0 0.00 6 2 25.00 WDR33 0 genome.wustl.edu 37 2 128477225 128477225 + Frame_Shift_Del DEL C C - TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 128477225 128477225 C - DEL WDR33 ENST00000322313 human ensembl 74_37 -1 known frame_shift_del c.2374 p.E792fs 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 tier1 54 0 0.00 33 5 13.16 WDR33 0 genome.wustl.edu 37 2 128522385 128522385 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 128522385 128522385 G T SNP WDR33 ENST00000409658 human ensembl 74_37 -1 known missense c.643 p.P215T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 64 0 0.00 25 2 7.41 WDR59 0 genome.wustl.edu 37 16 74943462 74943462 + Missense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 74943462 74943462 C T SNP WDR59 ENST00000262144 human ensembl 74_37 -1 known missense c.1579 p.G527R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 tier1 - - 79 0 0.00 24 10 29.41 WFDC1 0 genome.wustl.edu 37 16 84360521 84360521 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 84360521 84360521 G T SNP WFDC1 ENST00000219454 human ensembl 74_37 +1 known missense c.638 p.R213M 0.000 NULL pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core - no_errors WFDC1 HGNC ENSG00000103175 47 0 0.00 55 4 6.78 WFS1 0 genome.wustl.edu 37 4 6304133 6304133 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 4 6304133 6304133 G T SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.2611 p.V871L 0.997 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 47 0 0.00 16 2 11.11 XIST 0 genome.wustl.edu 37 X 73045040 73045040 + RNA SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d X 73045040 73045040 G T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 19 0 0.00 15 4 21.05 XKR7 0 genome.wustl.edu 37 20 30584665 30584665 + Missense_Mutation SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 20 30584665 30584665 G A SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.1145 p.R382H 0.998 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 tier1 - - 52 0 0.00 37 34 47.89 XPNPEP1 0 genome.wustl.edu 37 10 111640657 111640657 + Silent SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 10 111640657 111640657 G T SNP XPNPEP1 ENST00000502935 human ensembl 74_37 -1 known silent c.1074 p.I358 0.999 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 47 0 0.00 24 2 7.69 ZFHX3 0 genome.wustl.edu 37 16 72984827 72984827 + Silent SNP G G A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 16 72984827 72984827 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.2757 p.G919 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 tier1 rs141768802 - 64 0 0.00 15 12 44.44 ZFHX4 0 genome.wustl.edu 37 8 77765710 77765710 + Nonsense_Mutation SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 77765710 77765710 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known nonsense c.6553 p.R2185* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 56 0 0.00 18 6 25.00 ZNF345 0 genome.wustl.edu 37 19 37368066 37368066 + Missense_Mutation SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 37368066 37368066 C A SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known missense c.334 p.H112N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 49 0 0.00 22 2 8.33 ZNF473 0 genome.wustl.edu 37 19 50545064 50545064 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 50545064 50545064 G T SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.214 p.A72S 0.278 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 ZNF473 HGNC ENSG00000142528 tier1 - - 62 0 0.00 56 4 6.67 ZNF512B 0 genome.wustl.edu 37 20 62594454 62594454 + Silent SNP C C A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 20 62594454 62594454 C A SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known silent c.1962 p.T654 0.083 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 57 0 0.00 75 4 5.06 ZNF638 0 genome.wustl.edu 37 2 71615603 71615603 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 2 71615603 71615603 G T SNP ZNF638 ENST00000377802 human ensembl 74_37 +1 known missense c.2438 p.C813F 0.204 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 tier1 - - 34 0 0.00 16 3 15.79 ZNF704 0 genome.wustl.edu 37 8 81550824 81550825 + RNA INS - - A TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 8 81550824 81550825 - A INS ZNF704 ENST00000517379 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors ZNF704 HGNC ENSG00000164684 tier1 28 0 0.00 22 4 15.38 ZNF813 0 genome.wustl.edu 37 19 53994704 53994704 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 054b1b1a-f530-4fa5-badc-e4fca6d2b898 cf40064b-0e80-4dea-ae65-c6db0c79d07d 19 53994704 53994704 C T SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known silent c.1218 p.T406 0.994 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 ZNF813 HGNC ENSG00000198346 tier1 - - 103 0 0.00 40 12 23.08