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 NRAS 0 genome.wustl.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 115256530 115256530 G T SNP NRAS ENST00000369535 human ensembl 74_37 -1 known missense c.181 p.Q61K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NRAS HGNC ENSG00000213281 98 0 0 63 18 22.2222 HAO2 0 genome.wustl.edu 37 1 119929380 119929380 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 119929380 119929380 G A SNP HAO2 ENST00000361035 human ensembl 74_37 +1 known missense c.736 p.A246T 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 77 0 0 31 12 27.907 PDE4DIP 0 genome.wustl.edu 37 1 145075943 145075943 + RNA SNP C C A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 145075943 145075943 C A SNP PDE4DIP ENST00000528552 human ensembl 74_37 -1 known rna NULL NULL 0.118 - - - no_errors PDE4DIP HGNC ENSG00000178104 21 0 0 32 9 21.9512 LINGO4 0 genome.wustl.edu 37 1 151774881 151774881 + Missense_Mutation SNP C C A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 151774881 151774881 C A SNP LINGO4 ENST00000368820 human ensembl 74_37 -1 known missense c.300 p.E100D 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 56 0 0 110 28 20.2899 APOA1BP 0 genome.wustl.edu 37 1 156563272 156563272 + Missense_Mutation SNP C C G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 156563272 156563272 C G SNP APOA1BP ENST00000368235 human ensembl 74_37 +1 known missense c.589 p.R197G 1.000 pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom - no_errors APOA1BP HGNC ENSG00000163382 60 0 0 97 11 10.1852 KCNK2 0 genome.wustl.edu 37 1 215342582 215342582 + Missense_Mutation SNP A A C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 215342582 215342582 A C SNP KCNK2 ENST00000470177 human ensembl 74_37 +1 known missense c.398 p.Y133S 1.000 NULL prints_2pore_dom_K_chnl_TREK - no_errors KCNK2 HGNC ENSG00000082482 43 0 0 30 12 28.5714 HHIPL2 0 genome.wustl.edu 37 1 222716993 222716993 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 222716993 222716993 C T SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known missense c.860 p.R287H 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 167 0 0 192 55 22.2672 GUK1 0 genome.wustl.edu 37 1 228333596 228333596 + RNA SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 228333596 228333596 G A SNP GUK1 ENST00000464858 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUK1 HGNC ENSG00000143774 17 0 0 28 6 17.6471 PCNXL2 0 genome.wustl.edu 37 1 233136105 233136105 + Missense_Mutation SNP G G C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 233136105 233136105 G C SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.5274 p.D1758E 0.066 pfam_Pecanex,superfamily_Trypsin-like_Pept_dom pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 105 0 0 145 42 22.4599 CCDC17 0 genome.wustl.edu 37 1 46087577 46087577 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 46087577 46087577 G A SNP CCDC17 ENST00000343901 human ensembl 74_37 -1 known missense c.962 p.P321L 0.372 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 10 0 0 15 21 58.3333 PLEKHG5 0 genome.wustl.edu 37 1 6579534 6579534 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 6579534 6579534 C T SNP PLEKHG5 ENST00000377748 human ensembl 74_37 -1 known missense c.38 p.R13Q 0.002 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 83 0 0 60 10 14.2857 DNMBP 0 genome.wustl.edu 37 10 101715527 101715527 + Silent SNP T T A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 10 101715527 101715527 T A SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known silent c.1704 p.T568 0.010 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 69 0 0 87 23 20.9091 VIM 0 genome.wustl.edu 37 10 17276693 17276693 + Missense_Mutation SNP T T C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 10 17276693 17276693 T C SNP VIM ENST00000224237 human ensembl 74_37 +1 known missense c.884 p.F295S 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 72 0 0 90 36 28.5714 KIAA1462 0 genome.wustl.edu 37 10 30317329 30317329 + Missense_Mutation SNP A A T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 10 30317329 30317329 A T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.1748 p.V583D 1.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 104 0 0 130 32 19.7531 ZNF503 0 genome.wustl.edu 37 10 77159095 77159095 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 10 77159095 77159095 G A SNP ZNF503 ENST00000372524 human ensembl 74_37 -1 known silent c.1353 p.C451 1.000 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF503 HGNC ENSG00000165655 28 0 0 19 7 26.9231 STAMBPL1 0 genome.wustl.edu 37 10 90682145 90682145 + Nonsense_Mutation SNP T T A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 10 90682145 90682145 T A SNP STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known nonsense c.1206 p.C402* 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 42 0 0 33 3 8.33333 MUC6 0 genome.wustl.edu 37 11 1016369 1016369 + Silent SNP A A G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 11 1016369 1016369 A G SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.6432 p.Y2144 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 18 0 0 50 7 12.2807 BIRC3 0 genome.wustl.edu 37 11 102196232 102196232 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 11 102196232 102196232 G A SNP BIRC3 ENST00000263464 human ensembl 74_37 +1 known missense c.889 p.G297S 1.000 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 138 0 0 87 24 21.6216 MMP8 0 genome.wustl.edu 37 11 102593235 102593235 + Missense_Mutation SNP C C A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 11 102593235 102593235 C A SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known missense c.272 p.C91F 1.000 superfamily_Peptidoglycan-bd-like,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 MMP8 HGNC ENSG00000118113 88 0 0 87 23 20.9091 KIRREL3 0 genome.wustl.edu 37 11 126294762 126294762 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 11 126294762 126294762 C T SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known missense c.2050 p.G684S 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 40 0 0 78 25 24.2718 LDHC 0 genome.wustl.edu 37 11 18456456 18456456 + Silent SNP T T G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 11 18456456 18456456 T G SNP LDHC ENST00000280704 human ensembl 74_37 +1 known silent c.588 p.S196 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHC HGNC ENSG00000166796 53 0 0 42 10 19.2308 TNNI2 0 genome.wustl.edu 37 11 1862404 1862404 + Missense_Mutation SNP C C G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 11 1862404 1862404 C G SNP TNNI2 ENST00000252898 human ensembl 74_37 +1 known missense c.420 p.N140K 1.000 pfam_Troponin pfam_Troponin - no_errors TNNI2 HGNC ENSG00000130598 47 0 0 72 14 16.2791 OR5T3 0 genome.wustl.edu 37 11 56020031 56020031 + Missense_Mutation SNP A A T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 11 56020031 56020031 A T SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known missense c.356 p.N119I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 84 0 0 87 17 16.3462 CDC42BPG 0 genome.wustl.edu 37 11 64603960 64603960 + Missense_Mutation SNP G G T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 11 64603960 64603960 G T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.1427 p.P476H 0.018 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 96 0 0 150 45 23.0769 MYBPC1 0 genome.wustl.edu 37 12 102069076 102069076 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 12 102069076 102069076 C T SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known missense c.2816 p.P939L 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 26 0 0 7 4 36.3636 CAPRIN2 0 genome.wustl.edu 37 12 30887968 30887968 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 12 30887968 30887968 G A SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.743 p.S248L 1.000 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 107 0 0 55 35 38.8889 AMIGO2 0 genome.wustl.edu 37 12 47471346 47471346 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 12 47471346 47471346 G A SNP AMIGO2 ENST00000266581 human ensembl 74_37 -1 known silent c.1440 p.N480 0.995 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO2 HGNC ENSG00000139211 21 0 0 37 15 28.8462 ARHGEF25 0 genome.wustl.edu 37 12 58006728 58006728 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 12 58006728 58006728 C T SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known missense c.230 p.A77V 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 142 0 0 235 73 23.7013 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36776025 36776025 + Missense_Mutation SNP T T C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 13 36776025 36776025 T C SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.485 p.K162R 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 28 0 0 36 14 28 OR11H12 0 genome.wustl.edu 37 14 19377832 19377832 + Missense_Mutation SNP A A G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 14 19377832 19377832 A G SNP OR11H12 ENST00000550708 human ensembl 74_37 +1 known missense c.239 p.N80S 0.030 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 132 0 0 124 19 13.2867 ADCY4 0 genome.wustl.edu 37 14 24788626 24788626 + Missense_Mutation SNP T T C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 14 24788626 24788626 T C SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known missense c.2750 p.K917R 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 83 0 0 45 21 31.8182 MIR1260A 0 genome.wustl.edu 37 14 77732630 77732630 + RNA SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 14 77732630 77732630 G A SNP MIR1260A ENST00000408827 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR1260A HGNC ENSG00000221754 46 0 0 53 23 30.2632 SNORD64 0 genome.wustl.edu 37 15 25230169 25230169 + RNA SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 15 25230169 25230169 G A SNP SNORD64 ENST00000605533 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors SNORD64 HGNC ENSG00000270704 14 0 0 12 4 25 HIGD2B 0 genome.wustl.edu 37 15 72968542 72968542 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 15 72968542 72968542 G A SNP HIGD2B ENST00000311755 human ensembl 74_37 -1 known silent c.174 p.A58 0.998 pfam_Hypoxia_induced_domain pfam_Hypoxia_induced_domain - no_errors HIGD2B HGNC ENSG00000175202 14 0 0 16 4 20 SEMA4B 0 genome.wustl.edu 37 15 90770820 90770820 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 15 90770820 90770820 G A SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known missense c.1720 p.A574T 0.010 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 27 0 0 53 17 24.2857 SRCAP 0 genome.wustl.edu 37 16 30732220 30732220 + Silent SNP C C G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 16 30732220 30732220 C G SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.3174 p.P1058 0.967 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 103 0 0 124 30 19.4805 CDH13 0 genome.wustl.edu 37 16 83251091 83251091 + Missense_Mutation SNP G G T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 16 83251091 83251091 G T SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.625 p.A209S 0.967 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 41 0 0 40 15 27.2727 MAP2K3 0 genome.wustl.edu 37 17 21203934 21203934 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 17 21203934 21203934 G A SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known silent c.243 p.V81 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K3 HGNC ENSG00000034152 15 0 0 10 8 44.4444 CRYBA1 0 genome.wustl.edu 37 17 27581338 27581338 + Missense_Mutation SNP A A T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 17 27581338 27581338 A T SNP CRYBA1 ENST00000225387 human ensembl 74_37 +1 known missense c.619 p.I207F 1.000 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 CRYBA1 HGNC ENSG00000108255 66 0 0 88 23 20.7207 PIP4K2B 0 genome.wustl.edu 37 17 36934602 36934602 + Silent SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 17 36934602 36934602 C T SNP PIP4K2B ENST00000269554 human ensembl 74_37 -1 known silent c.678 p.A226 0.619 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC ENSG00000141720 167 0 0 618 84 11.9658 TP53 0 genome.wustl.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 17 7578394 7578394 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.536 p.H179R 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 71 0 0 65 26 28.5714 PIK3C3 0 genome.wustl.edu 37 18 39573270 39573270 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 18 39573270 39573270 G A SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.751 p.E251K 1.000 pirsf_PI3K_Vps34 pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 34 0 0 15 5 25 ENSG00000267174 0 genome.wustl.edu 37 19 11411868 11411868 + RNA SNP C C A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 19 11411868 11411868 C A SNP ENSG00000267174 ENST00000585801 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-510F12.4 Clone_based_vega_gene ENSG00000267174 48 0 0 28 3 9.67742 ZNF681 0 genome.wustl.edu 37 19 23937635 23937635 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 19 23937635 23937635 G A SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known silent c.216 p.A72 0.243 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 ZNF681 HGNC ENSG00000196172 59 0 0 53 11 17.1875 CNTNAP5 0 genome.wustl.edu 37 2 125555790 125555790 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 2 125555790 125555790 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.3107 p.S1036F 0.992 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 28 0 0 37 11 22.9167 LRP2 0 genome.wustl.edu 37 2 170063039 170063039 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 2 170063039 170063039 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.7191 p.S2397 0.995 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 44 0 0 69 12 14.8148 AGPS 0 genome.wustl.edu 37 2 178364413 178364413 + Missense_Mutation SNP T T C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 2 178364413 178364413 T C SNP AGPS ENST00000264167 human ensembl 74_37 +1 known missense c.1430 p.V477A 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 59 0 0 22 10 31.25 TTN 0 genome.wustl.edu 37 2 179476671 179476671 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 2 179476671 179476671 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.42661 p.E14221K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 26 0 0 42 14 25 ASNSD1 0 genome.wustl.edu 37 2 190532126 190532126 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 2 190532126 190532126 G A SNP ASNSD1 ENST00000260952 human ensembl 74_37 +1 known missense c.1268 p.R423Q 0.748 pfam_Asn_synthase pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 40 0 0 19 11 36.6667 NABP1 0 genome.wustl.edu 37 2 192550460 192550460 + Missense_Mutation SNP A A G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 2 192550460 192550460 A G SNP NABP1 ENST00000425611 human ensembl 74_37 +1 known missense c.581 p.N194S 1.000 NULL pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold - no_errors NABP1 HGNC ENSG00000173559 25 0 0 12 5 29.4118 COL6A3 0 genome.wustl.edu 37 2 238289897 238289897 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 2 238289897 238289897 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.1558 p.G520S 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 128 0 0 164 61 27.1111 NRXN1 0 genome.wustl.edu 37 2 50724691 50724691 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 2 50724691 50724691 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.2635 p.D879N 1.000 pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 24 0 0 32 6 15.7895 MPHOSPH10 0 genome.wustl.edu 37 2 71360625 71360625 + Missense_Mutation SNP G G T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 2 71360625 71360625 G T SNP MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known missense c.687 p.E229D 0.004 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 48 0 0 36 4 10 ENSG00000240040 0 genome.wustl.edu 37 2 89117933 89117933 + RNA SNP A A T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 2 89117933 89117933 A T SNP ENSG00000240040 ENST00000434790 human ensembl 74_37 -1 known rna NULL NULL 0.919 - - - no_errors AC096579.13 Clone_based_vega_gene ENSG00000240040 10 0 0 18 3 14.2857 FLRT3 0 genome.wustl.edu 37 20 14307252 14307252 + Missense_Mutation SNP T T G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 20 14307252 14307252 T G SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known missense c.901 p.I301L 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 44 0 0 54 17 23.9437 TSHZ2 0 genome.wustl.edu 37 20 51871474 51871474 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 20 51871474 51871474 G A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.1477 p.D493N 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 52 0 0 94 18 16.0714 PCK1 0 genome.wustl.edu 37 20 56139227 56139227 + Missense_Mutation SNP C C A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 20 56139227 56139227 C A SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known missense c.964 p.H322N 0.998 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 37 0 0 50 10 16.6667 CDH4 0 genome.wustl.edu 37 20 60485616 60485616 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 20 60485616 60485616 G A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1327 p.V443I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 58 0 0 87 36 29.2683 TMPRSS15 0 genome.wustl.edu 37 21 19653413 19653413 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 21 19653413 19653413 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2612 p.R871Q 0.679 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 89 0 0 49 16 24.6154 C21orf62 0 genome.wustl.edu 37 21 34166192 34166192 + Missense_Mutation SNP A A G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 21 34166192 34166192 A G SNP C21orf62 ENST00000479548 human ensembl 74_37 -1 known missense c.541 p.F181L 0.018 NULL NULL - no_errors C21orf62 HGNC ENSG00000205929 48 0 0 44 4 8.33333 UMODL1 0 genome.wustl.edu 37 21 43547788 43547788 + Silent SNP T T C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 21 43547788 43547788 T C SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.3921 p.P1307 0.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 29 0 0 42 3 6.66667 KIAA1524 0 genome.wustl.edu 37 3 108276170 108276170 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 3 108276170 108276170 C T SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known missense c.2105 p.R702K 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 27 0 0 27 10 27.027 KIAA1524 0 genome.wustl.edu 37 3 108298465 108298465 + Missense_Mutation SNP A A C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 3 108298465 108298465 A C SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known missense c.620 p.F207C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 26 0 0 12 3 20 MRPL47 0 genome.wustl.edu 37 3 179319544 179319544 + Missense_Mutation SNP T T G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 3 179319544 179319544 T G SNP MRPL47 ENST00000476781 human ensembl 74_37 -1 known missense c.279 p.K93N 1.000 pfam_Ribosomal_L47_mit pfam_Ribosomal_L47_mit - no_errors MRPL47 HGNC ENSG00000136522 25 0 0 26 8 23.5294 PEX5L 0 genome.wustl.edu 37 3 179576923 179576923 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 3 179576923 179576923 C T SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known missense c.749 p.R250H 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 24 0 0 36 12 25 EPHB3 0 genome.wustl.edu 37 3 184298951 184298951 + Silent SNP T T C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 3 184298951 184298951 T C SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known silent c.2730 p.S910 0.988 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 105 0 0 134 32 19.2771 SCN11A 0 genome.wustl.edu 37 3 38912935 38912935 + Splice_Site SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 3 38912935 38912935 C T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known splice_site c.3759+1 e21+1 1.000 - - - no_errors SCN11A HGNC ENSG00000168356 22 0 0 16 5 23.8095 ZNF35 0 genome.wustl.edu 37 3 44694075 44694075 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 3 44694075 44694075 G A SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known silent c.219 p.A73 0.818 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 167 0 0 189 59 23.7903 TEX264 0 genome.wustl.edu 37 3 51733461 51733461 + Nonsense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 3 51733461 51733461 C T SNP TEX264 ENST00000341333 human ensembl 74_37 +1 known nonsense c.520 p.Q174* 1.000 NULL superfamily_Reg_factor_effector_dom - no_errors TEX264 HGNC ENSG00000164081 99 0 0 156 50 24.2718 DNAH1 0 genome.wustl.edu 37 3 52395215 52395215 + Missense_Mutation SNP A A C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 3 52395215 52395215 A C SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.4721 p.K1574T 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 19 0 0 33 13 28.2609 GUCY1A3 0 genome.wustl.edu 37 4 156651353 156651353 + Missense_Mutation SNP T T A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 4 156651353 156651353 T A SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.2043 p.N681K 0.976 NULL pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 47 0 0 35 13 27.0833 SPP1 0 genome.wustl.edu 37 4 88902651 88902651 + Missense_Mutation SNP A A C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 4 88902651 88902651 A C SNP SPP1 ENST00000395080 human ensembl 74_37 +1 known missense c.241 p.S81R 0.998 pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 104 0 0 77 37 32.4561 PCDHAC1 0 genome.wustl.edu 37 5 140308286 140308286 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 5 140308286 140308286 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known silent c.1809 p.A603 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 72 0 0 63 29 31.5217 CAMK2A 0 genome.wustl.edu 37 5 149602668 149602668 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 5 149602668 149602668 G A SNP CAMK2A ENST00000398376 human ensembl 74_37 -1 known silent c.1350 p.D450 0.702 pfam_Ca/CaM-dep_prot_kinase-assoc,superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2A HGNC ENSG00000070808 91 0 0 55 32 36.7816 HMGB3P22 0 genome.wustl.edu 37 5 179121536 179121536 + RNA SNP C C A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 5 179121536 179121536 C A SNP HMGB3P22 ENST00000442010 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB3P22 HGNC ENSG00000225051 24 0 0 17 6 26.087 ADAMTS12 0 genome.wustl.edu 37 5 33643533 33643533 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 5 33643533 33643533 G A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.1522 p.R508C 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 110 0 0 123 45 26.7857 LYSMD3 0 genome.wustl.edu 37 5 89814934 89814934 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 5 89814934 89814934 G A SNP LYSMD3 ENST00000315948 human ensembl 74_37 -1 known missense c.623 p.P208L 1.000 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD3 HGNC ENSG00000176018 78 0 0 57 5 8.06452 REV3L 0 genome.wustl.edu 37 6 111697854 111697854 + Missense_Mutation SNP T T A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 6 111697854 111697854 T A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.1704 p.E568D 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 61 0 0 44 10 18.5185 GRM1 0 genome.wustl.edu 37 6 146351241 146351241 + Silent SNP T T G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 6 146351241 146351241 T G SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.588 p.T196 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 81 0 0 112 27 19.4245 TSPO2 0 genome.wustl.edu 37 6 41010893 41010893 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 6 41010893 41010893 G A SNP TSPO2 ENST00000373161 human ensembl 74_37 +1 known missense c.169 p.V57M 0.332 pfam_TspO_MBR,pirsf_TspO_MBR pfam_TspO_MBR,pirsf_TspO_MBR - no_errors TSPO2 HGNC ENSG00000112212 112 0 0 117 30 20.4082 ICK 0 genome.wustl.edu 37 6 52878511 52878511 + Missense_Mutation SNP G G T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 6 52878511 52878511 G T SNP ICK ENST00000350082 human ensembl 74_37 -1 known missense c.1101 p.D367E 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ICK HGNC ENSG00000112144 132 1 0.75188 158 47 22.9268 KHDRBS2 0 genome.wustl.edu 37 6 62604706 62604706 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 6 62604706 62604706 G A SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.644 p.P215L 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 31 0 0 52 25 32.4675 SSPO 0 genome.wustl.edu 37 7 149489758 149489758 + RNA SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 7 149489758 149489758 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors SSPO HGNC ENSG00000197558 39 0 0 44 6 12 IQCE 0 genome.wustl.edu 37 7 2617908 2617908 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 7 2617908 2617908 G A SNP IQCE ENST00000402050 human ensembl 74_37 +1 known silent c.498 p.L166 0.034 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 80 0 0 157 28 15.1351 ELMO1 0 genome.wustl.edu 37 7 37298854 37298854 + Silent SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 7 37298854 37298854 C T SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known silent c.345 p.T115 0.052 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 45 0 0 71 16 18.3908 GUSB 0 genome.wustl.edu 37 7 65445396 65445396 + Missense_Mutation SNP A A G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 7 65445396 65445396 A G SNP GUSB ENST00000304895 human ensembl 74_37 -1 known missense c.211 p.S71P 0.998 pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 15 0 0 34 2 5.55556 MSR1 0 genome.wustl.edu 37 8 16021613 16021613 + Missense_Mutation SNP C C T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 8 16021613 16021613 C T SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.778 p.E260K 1.000 superfamily_STAT_TF_coiled-coil,prints_Macro_scav_rcpt pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 20 0 0 23 3 11.5385 ADAM18 0 genome.wustl.edu 37 8 39581392 39581392 + Missense_Mutation SNP A A G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 8 39581392 39581392 A G SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.2143 p.K715E 0.031 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 38 0 0 31 12 27.907 CHRNB3 0 genome.wustl.edu 37 8 42586889 42586889 + Missense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 8 42586889 42586889 G A SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known missense c.439 p.A147T 0.994 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 46 0 0 38 16 29.6296 PREX2 0 genome.wustl.edu 37 8 69011999 69011999 + Missense_Mutation SNP C C A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 8 69011999 69011999 C A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2636 p.T879N 0.466 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 71 0 0 69 9 11.5385 BAAT 0 genome.wustl.edu 37 9 104124855 104124855 + Missense_Mutation SNP A A G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 9 104124855 104124855 A G SNP BAAT ENST00000259407 human ensembl 74_37 -1 known missense c.1112 p.L371P 0.949 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 44 0 0 89 23 20.5357 PAPPA 0 genome.wustl.edu 37 9 118989743 118989743 + Missense_Mutation SNP A A T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 9 118989743 118989743 A T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.2145 p.E715D 0.997 superfamily_Fibronectin_type3 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 95 0 0 120 27 18.3673 CDK5RAP2 0 genome.wustl.edu 37 9 123201972 123201972 + Missense_Mutation SNP T T C TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 9 123201972 123201972 T C SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.3427 p.I1143V 0.982 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 64 0 0 50 29 36.7089 ZER1 0 genome.wustl.edu 37 9 131502299 131502299 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 9 131502299 131502299 G A SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known silent c.1953 p.V651 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 67 0 0 124 17 12.0567 SMARCA2 0 genome.wustl.edu 37 9 2084121 2084121 + Silent SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 9 2084121 2084121 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.2451 p.Q817 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 31 0 0 12 21 63.6364 CDKN2A 0 genome.wustl.edu 37 9 21974695 21974695 + Nonsense_Mutation SNP G G T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 9 21974695 21974695 G T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known nonsense c.132 p.Y44* 0.020 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 182 0 0 208 219 51.2881 NOL6 0 genome.wustl.edu 37 9 33469046 33469046 + Missense_Mutation SNP C C A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 9 33469046 33469046 C A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.936 p.Q312H 0.990 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 181 0 0 212 130 38.0117 TMEM2 0 genome.wustl.edu 37 9 74315723 74315723 + Missense_Mutation SNP A A G TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 9 74315723 74315723 A G SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.3212 p.V1071A 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 28 0 0 22 10 31.25 SRPK3 0 genome.wustl.edu 37 X 153047060 153047060 + Nonsense_Mutation SNP G G A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b X 153047060 153047060 G A SNP SRPK3 ENST00000370101 human ensembl 74_37 +1 known nonsense c.291 p.W97* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SRPK3 HGNC ENSG00000184343 24 0 0 18 12 40 LOC100131825 0 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 20 0 0 38 6 13.6364 LPHN2 0 genome.wustl.edu 37 1 82451082 82451082 + RNA DEL T T - TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 1 82451082 82451082 T - DEL LPHN2 ENST00000498776 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LPHN2 HGNC ENSG00000117114 18 0 0 5 2 28.5714 UBE2G2 0 genome.wustl.edu 37 21 46191155 46191156 + RNA INS - - A TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 21 46191155 46191156 - A INS UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors UBE2G2 HGNC ENSG00000184787 23 0 0 19 5 20.8333 SIAH2 0 genome.wustl.edu 37 3 150480449 150480451 + In_Frame_Del DEL CCG CCG - TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 3 150480449 150480451 CCG - DEL SIAH2 ENST00000312960 human ensembl 74_37 -1 known in_frame_del c.188_186 p.G63in_frame_del 1.000:1.000:0.993 NULL pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 12 0 0 19 3 13.6364 TMPRSS11A 0 genome.wustl.edu 37 4 68810345 68810346 + Frame_Shift_Ins INS - - T TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b 4 68810345 68810346 - T INS TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known frame_shift_ins c.144_143 p.E49fs 0.135:0.055 pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 30 0 0 15 8 34.7826 DDX3X 0 genome.wustl.edu 37 X 41205650 41205682 + Frame_Shift_Del DEL TAGTGGCTACAGCAGTATGTATAAACATCTTTC TAGTGGCTACAGCAGTATGTATAAACATCTTTC - TCGA-CD-A489-01A-11D-A24D-08 TCGA-CD-A489-10A-01D-A24F-08 TAGTGGCTACAGCAGTATGTATAAACATCTTTC TAGTGGCTACAGCAGTATGTATAAACATCTTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d0a6ef23-ca22-4c1a-8edc-992227c369da 436cc20a-4b6e-4d37-9b13-7136e43ef71b X 41205650 41205682 TAGTGGCTACAGCAGTATGTATAAACATCTTTC - DEL DDX3X ENST00000399959 human ensembl 74_37 +1 known frame_shift_del c.1484_1497 p.L495fs 0.994:0.944:1.000:1.000:0.986:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 23 0 0 16 16 50