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 NOTCH2 0 genome.wustl.edu 37 1 120539720 120539720 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 1 120539720 120539720 G A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known silent c.651 p.Y217 0.873 pirsf_Notch,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 78 0 0 68 10 12.8205 ECM1 0 genome.wustl.edu 37 1 150484934 150484934 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 1 150484934 150484934 C T SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.1271 p.A424V 0.966 pfam_ECM1,superfamily_Serum_albumin-like pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 102 0 0 129 13 9.15493 NCSTN 0 genome.wustl.edu 37 1 160326122 160326122 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 1 160326122 160326122 C T SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known silent c.1624 p.L542 0.944 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 137 0 0 123 15 10.8696 TADA1 0 genome.wustl.edu 37 1 166833124 166833124 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 1 166833124 166833124 G A SNP TADA1 ENST00000367874 human ensembl 74_37 -1 known silent c.267 p.S89 1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 163 0 0 135 13 8.78378 NAV1 0 genome.wustl.edu 37 1 201618003 201618003 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 1 201618003 201618003 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known silent c.207 p.S69 0.920 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 50 0 0 36 5 12.1951 EPRS 0 genome.wustl.edu 37 1 220191835 220191835 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 1 220191835 220191835 C A SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.1450 p.V484F 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 121 0 0 106 8 7.01754 C1QC 0 genome.wustl.edu 37 1 22974057 22974057 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 1 22974057 22974057 G A SNP C1QC ENST00000374637 human ensembl 74_37 +1 known silent c.519 p.S173 0.008 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 97 0 0 106 19 15.2 TARBP1 0 genome.wustl.edu 37 1 234603278 234603278 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 1 234603278 234603278 C A SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.1218 p.K406N 0.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 112 0 0 109 15 12.0968 DESI2 0 genome.wustl.edu 37 1 244855285 244855285 + Missense_Mutation SNP A A G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 1 244855285 244855285 A G SNP DESI2 ENST00000302550 human ensembl 74_37 +1 novel missense c.314 p.H105R 1.000 pfam_PPPDE_dom pfam_PPPDE_dom - no_errors DESI2 HGNC ENSG00000121644 132 0 0 103 8 7.20721 SMAP2 0 genome.wustl.edu 37 1 40887656 40887656 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 1 40887656 40887656 G A SNP SMAP2 ENST00000372718 human ensembl 74_37 +1 known silent c.1173 p.Q391 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 62 0 0 62 5 7.46269 GPAM 0 genome.wustl.edu 37 10 113917036 113917036 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 10 113917036 113917036 C T SNP GPAM ENST00000348367 human ensembl 74_37 -1 known missense c.2092 p.G698R 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 216 0 0 154 16 9.41176 TTC40 0 genome.wustl.edu 37 10 134622029 134622029 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 10 134622029 134622029 C T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.2527 p.V843I 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 108 0 0 98 10 9.25926 ZNF33A 0 genome.wustl.edu 37 10 38345151 38345151 + Missense_Mutation SNP A A C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 10 38345151 38345151 A C SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.2117 p.K706T 0.958 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 202 0 0 155 15 8.82353 ATM 0 genome.wustl.edu 37 11 108192027 108192027 + Splice_Site SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 11 108192027 108192027 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known splice_site c.6453-1 e44-1 1.000 - - - no_errors ATM HGNC ENSG00000149311 155 0 0 143 18 11.1801 OR6T1 0 genome.wustl.edu 37 11 123813863 123813863 + Missense_Mutation SNP G G T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 11 123813863 123813863 G T SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known missense c.683 p.A228D 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 129 0 0 119 9 7.03125 STIM1 0 genome.wustl.edu 37 11 4112528 4112528 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 11 4112528 4112528 G A SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known missense c.1558 p.D520N 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 181 0 0 148 17 10.303 CKAP5 0 genome.wustl.edu 37 11 46799045 46799045 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 11 46799045 46799045 T G SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.2806 p.K936Q 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 100 0 0 88 6 6.38298 LRP4 0 genome.wustl.edu 37 11 46918479 46918479 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 11 46918479 46918479 C T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.863 p.R288H 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 137 0 0 116 15 11.4504 OR5T2 0 genome.wustl.edu 37 11 56000616 56000616 + Missense_Mutation SNP G G T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 11 56000616 56000616 G T SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.46 p.H16N 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 270 0 0 199 29 12.7193 FLRT1 0 genome.wustl.edu 37 11 63885728 63885728 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 11 63885728 63885728 C A SNP FLRT1 ENST00000246841 human ensembl 74_37 +1 known missense c.1989 p.D663E 0.984 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 54 0 0 57 5 8.06452 FIBP 0 genome.wustl.edu 37 11 65651964 65651964 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 11 65651964 65651964 C T SNP FIBP ENST00000533045 human ensembl 74_37 -1 putative missense c.880 p.A294T 0.011 NULL pfam_FIBP - no_errors FIBP HGNC ENSG00000172500 41 0 0 50 3 5.66038 ACACB 0 genome.wustl.edu 37 12 109613985 109613985 + Missense_Mutation SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 12 109613985 109613985 A T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.1354 p.M452L 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 564 0 0 552 66 10.6796 TAS2R9 0 genome.wustl.edu 37 12 10962536 10962536 + Missense_Mutation SNP T T C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 12 10962536 10962536 T C SNP TAS2R9 ENST00000240691 human ensembl 74_37 -1 known missense c.139 p.I47V 0.620 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R9 HGNC ENSG00000121381 215 0 0 173 33 16.0194 KCTD10 0 genome.wustl.edu 37 12 109889615 109889615 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 12 109889615 109889615 C T SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known missense c.727 p.E243K 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 48 0 0 28 6 17.6471 TMEM132D 0 genome.wustl.edu 37 12 129694077 129694077 + Silent SNP T T C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 12 129694077 129694077 T C SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.1431 p.E477 0.995 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 42 0 0 40 4 9.09091 TMEM132D 0 genome.wustl.edu 37 12 130184802 130184802 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 12 130184802 130184802 C T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.521 p.R174Q 0.998 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 26 0 0 40 8 16.6667 EPS8 0 genome.wustl.edu 37 12 15784459 15784459 + Missense_Mutation SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 12 15784459 15784459 A T SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known missense c.1961 p.I654K 0.030 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 344 0 0 261 37 12.4161 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 49 0 0 50 5 9.09091 SHMT2 0 genome.wustl.edu 37 12 57626616 57626616 + Nonsense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 12 57626616 57626616 C T SNP SHMT2 ENST00000328923 human ensembl 74_37 +1 known nonsense c.847 p.R283* 0.997 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 72 0 0 86 10 10.4167 TNFRSF1A 0 genome.wustl.edu 37 12 6439826 6439826 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 12 6439826 6439826 G A SNP TNFRSF1A ENST00000162749 human ensembl 74_37 -1 known missense c.677 p.S226F 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 41 0 0 43 3 6.52174 PLXNC1 0 genome.wustl.edu 37 12 94562997 94562997 + Silent SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 12 94562997 94562997 A T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known silent c.1131 p.T377 0.647 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 209 0 0 161 25 13.4409 SACS 0 genome.wustl.edu 37 13 23910025 23910025 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 13 23910025 23910025 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.7990 p.G2664R 1.000 superfamily_HATPase_ATP-bd pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 121 0 0 85 9 9.57447 DCLK1 0 genome.wustl.edu 37 13 36700222 36700222 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 13 36700222 36700222 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.53 p.A18V 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 91 0 0 75 12 13.7931 KLF12 0 genome.wustl.edu 37 13 74419995 74419995 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 13 74419995 74419995 C T SNP KLF12 ENST00000377666 human ensembl 74_37 -1 known silent c.639 p.P213 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF12 HGNC ENSG00000118922 124 0 0 111 11 9.01639 TRAF3 0 genome.wustl.edu 37 14 103371927 103371927 + Nonsense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 14 103371927 103371927 C T SNP TRAF3 ENST00000392745 human ensembl 74_37 +1 known nonsense c.1513 p.R505* 0.948 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 283 0 0 218 19 8.01688 LRFN5 0 genome.wustl.edu 37 14 42356791 42356791 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 14 42356791 42356791 T G SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.963 p.I321M 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 244 1 0.408163 183 22 10.7317 ATP6V1D 0 genome.wustl.edu 37 14 67815774 67815774 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 14 67815774 67815774 G A SNP ATP6V1D ENST00000216442 human ensembl 74_37 -1 known missense c.287 p.A96V 1.000 pfam_V_ATPase_D,tigrfam_V_ATPase_D pfam_V_ATPase_D,tigrfam_V_ATPase_D - no_errors ATP6V1D HGNC ENSG00000100554 82 0 0 94 14 12.963 NRXN3 0 genome.wustl.edu 37 14 79746838 79746838 + Silent SNP T T C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 14 79746838 79746838 T C SNP NRXN3 ENST00000428277 human ensembl 74_37 +1 known silent c.204 p.P68 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 311 1 0.320513 263 22 7.7193 FLRT2 0 genome.wustl.edu 37 14 86088964 86088964 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 14 86088964 86088964 T G SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1106 p.L369R 0.216 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 208 0 0 216 23 9.62343 RIN3 0 genome.wustl.edu 37 14 93118175 93118175 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 14 93118175 93118175 C A SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.781 p.P261T 0.001 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 84 0 0 79 5 5.95238 SCAPER 0 genome.wustl.edu 37 15 77059273 77059273 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 15 77059273 77059273 C A SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.1405 p.D469Y 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 58 0 0 57 4 6.55738 POLG 0 genome.wustl.edu 37 15 89872248 89872248 + Nonsense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 15 89872248 89872248 G A SNP POLG ENST00000268124 human ensembl 74_37 -1 known nonsense c.949 p.Q317* 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,superfamily_RNaseH-like_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 88 0 0 64 6 8.57143 TBL3 0 genome.wustl.edu 37 16 2028044 2028044 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 16 2028044 2028044 G A SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known missense c.2044 p.V682M 0.998 pfam_SSU_processome_Utp13 pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 83 0 0 60 4 6.25 ZNF598 0 genome.wustl.edu 37 16 2048404 2048404 + Missense_Mutation SNP G G C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 16 2048404 2048404 G C SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.2544 p.N848K 1.000 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 135 0 0 103 10 8.84956 TNRC6A 0 genome.wustl.edu 37 16 24816169 24816169 + Missense_Mutation SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 16 24816169 24816169 A T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.3981 p.R1327S 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 219 0 0 164 19 10.3825 CES1 0 genome.wustl.edu 37 16 55855374 55855374 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 16 55855374 55855374 C T SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.599 p.R200H 0.938 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 95 0 0 72 5 6.49351 ENSG00000263126 0 genome.wustl.edu 37 16 67919834 67919834 + RNA SNP C C G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 16 67919834 67919834 C G SNP ENSG00000263126 ENST00000572067 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000263126 92 0 0 82 14 14.5833 PSKH1 0 genome.wustl.edu 37 16 67943097 67943097 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 16 67943097 67943097 C T SNP PSKH1 ENST00000291041 human ensembl 74_37 +1 known missense c.445 p.R149W 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PSKH1 HGNC ENSG00000159792 63 0 0 53 4 7.01754 ABAT 0 genome.wustl.edu 37 16 8866677 8866677 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 16 8866677 8866677 C T SNP ABAT ENST00000268251 human ensembl 74_37 +1 known missense c.857 p.T286M 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk - no_errors ABAT HGNC ENSG00000183044 72 0 0 61 6 8.95522 ATXN7L3 0 genome.wustl.edu 37 17 42271971 42271971 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 17 42271971 42271971 C A SNP ATXN7L3 ENST00000454077 human ensembl 74_37 -1 known missense c.830 p.S277I 1.000 NULL pfam_SAGA_su_Sgf11,pfam_SCA7_dom - no_errors ATXN7L3 HGNC ENSG00000087152 43 0 0 41 8 16.3265 QRICH2 0 genome.wustl.edu 37 17 74288358 74288358 + Missense_Mutation SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 17 74288358 74288358 A T SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.1952 p.V651D 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 65 0 0 57 4 6.55738 EPB41L3 0 genome.wustl.edu 37 18 5398077 5398077 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 18 5398077 5398077 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.2415 p.A805 0.434 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 453 1 0.220264 389 42 9.74478 EPB41L3 0 genome.wustl.edu 37 18 5424307 5424307 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 18 5424307 5424307 C A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.1117 p.A373S 1.000 pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 278 0 0 220 46 17.2932 ZNF90 0 genome.wustl.edu 37 19 20228877 20228877 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 19 20228877 20228877 C A SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known missense c.514 p.P172T 0.834 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF90 HGNC ENSG00000213988 49 0 0 30 6 16.6667 ZNF345 0 genome.wustl.edu 37 19 37367987 37367987 + Silent SNP T T A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 19 37367987 37367987 T A SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known silent c.255 p.T85 0.997 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 126 0 0 122 8 6.15385 ZNF585A 0 genome.wustl.edu 37 19 37643342 37643342 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 19 37643342 37643342 T G SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known missense c.1459 p.T487P 0.928 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585A HGNC ENSG00000196967 301 0 0 236 28 10.6061 EGLN2 0 genome.wustl.edu 37 19 41313417 41313417 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 19 41313417 41313417 G A SNP EGLN2 ENST00000303961 human ensembl 74_37 +1 known missense c.1129 p.A377T 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors EGLN2 HGNC ENSG00000269858 164 0 0 173 13 6.98925 ZSCAN18 0 genome.wustl.edu 37 19 58596469 58596469 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 19 58596469 58596469 C T SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known silent c.1284 p.P428 0.115 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 21 0 0 34 6 15 NMS 0 genome.wustl.edu 37 2 101099720 101099720 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 2 101099720 101099720 G A SNP NMS ENST00000376865 human ensembl 74_37 +1 known silent c.456 p.Q152 0.000 NULL pfam_NMU_C - no_errors NMS HGNC ENSG00000204640 99 0 0 71 4 5.33333 MFSD9 0 genome.wustl.edu 37 2 103335364 103335364 + Missense_Mutation SNP A A C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 2 103335364 103335364 A C SNP MFSD9 ENST00000258436 human ensembl 74_37 -1 known missense c.940 p.F314V 0.996 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 80 0 0 69 14 16.8675 LPIN1 0 genome.wustl.edu 37 2 11964841 11964841 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 2 11964841 11964841 C T SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.2852 p.T951I 0.974 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 152 0 0 112 18 13.8462 MAP3K19 0 genome.wustl.edu 37 2 135745629 135745629 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 2 135745629 135745629 C T SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known silent c.813 p.S271 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 177 1 0.561798 150 24 13.7931 TTN 0 genome.wustl.edu 37 2 179402435 179402435 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 2 179402435 179402435 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.91795 p.D30599N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 130 0 0 85 7 7.6087 TTN 0 genome.wustl.edu 37 2 179472999 179472999 + Silent SNP T T C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 2 179472999 179472999 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.44907 p.G14969 0.966 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 71 0 0 59 5 7.8125 ITGA4 0 genome.wustl.edu 37 2 182343498 182343498 + Missense_Mutation SNP T T A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 2 182343498 182343498 T A SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.571 p.F191I 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 51 0 0 35 6 14.6341 DNER 0 genome.wustl.edu 37 2 230312248 230312248 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 2 230312248 230312248 C T SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.1270 p.G424R 0.994 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 57 0 0 55 4 6.77966 XDH 0 genome.wustl.edu 37 2 31572580 31572580 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 2 31572580 31572580 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.2941 p.R981W 0.846 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 342 0 0 255 35 12.069 VIT 0 genome.wustl.edu 37 2 37035950 37035950 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 2 37035950 37035950 C T SNP VIT ENST00000379242 human ensembl 74_37 +1 known silent c.1725 p.N575 0.095 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 85 0 0 76 8 9.52381 GHRH 0 genome.wustl.edu 37 20 35884866 35884866 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 20 35884866 35884866 C T SNP GHRH ENST00000237527 human ensembl 74_37 -1 known missense c.119 p.S40N 1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors GHRH HGNC ENSG00000118702 69 0 0 75 6 7.40741 FBLN1 0 genome.wustl.edu 37 22 45946460 45946460 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 22 45946460 45946460 C A SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.1662 p.F554L 0.998 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 77 0 0 88 6 6.38298 COPG1 0 genome.wustl.edu 37 3 128987415 128987415 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 3 128987415 128987415 C T SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known missense c.1726 p.L576F 1.000 pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 184 0 0 160 13 7.51445 FHIT 0 genome.wustl.edu 37 3 60522603 60522603 + Silent SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 3 60522603 60522603 C A SNP FHIT ENST00000341848 human ensembl 74_37 -1 known silent c.93 p.V31 1.000 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like - no_errors FHIT HGNC ENSG00000189283 62 0 0 59 5 7.8125 CNTN3 0 genome.wustl.edu 37 3 74351863 74351863 + Silent SNP A A G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 3 74351863 74351863 A G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.1764 p.S588 0.596 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 87 0 0 75 10 11.7647 TRIML1 0 genome.wustl.edu 37 4 189061023 189061023 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 4 189061023 189061023 C T SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known missense c.311 p.A104V 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 58 0 0 59 9 13.2353 CTNND2 0 genome.wustl.edu 37 5 10992707 10992707 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 10992707 10992707 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.3167 p.T1056M 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 125 0 0 107 12 10.084 DNAH5 0 genome.wustl.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 13717530 13717530 T A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12599 p.K4200M 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 103 0 0 75 4 5.06329 PCDHA9 0 genome.wustl.edu 37 5 140229950 140229950 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 140229950 140229950 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1870 p.V624M 0.994 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 PCDHA9 HGNC ENSG00000204961 88 0 0 82 6 6.81818 PCDHAC2 0 genome.wustl.edu 37 5 140346755 140346755 + Missense_Mutation SNP A A T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 140346755 140346755 A T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.404 p.E135V 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 57 0 0 52 11 17.4603 PCDHB15 0 genome.wustl.edu 37 5 140627003 140627003 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 140627003 140627003 G A SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known silent c.1857 p.A619 0.464 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 60 0 0 55 6 9.83607 PCDHGA5 0 genome.wustl.edu 37 5 140745345 140745345 + Missense_Mutation SNP A A G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 140745345 140745345 A G SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.1448 p.D483G 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 284 0 0 255 27 9.57447 GABRG2 0 genome.wustl.edu 37 5 161576230 161576230 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 161576230 161576230 T G SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.1039 p.F347V 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 236 0 0 203 19 8.55856 SLC9A3 0 genome.wustl.edu 37 5 475096 475096 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 475096 475096 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.2403 p.L801 0.434 NULL pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 23 0 0 17 8 32 SLC9A3 0 genome.wustl.edu 37 5 475129 475129 + Missense_Mutation SNP C C G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 475129 475129 C G SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.2370 p.Q790H 0.893 NULL pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 30 0 0 29 8 21.6216 SLC9A3 0 genome.wustl.edu 37 5 475242 475242 + Missense_Mutation SNP C C G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 475242 475242 C G SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.2257 p.D753H 1.000 NULL pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 71 0 0 56 10 15.1515 ZFYVE16 0 genome.wustl.edu 37 5 79733463 79733463 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 5 79733463 79733463 G A SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.959 p.R320K 0.166 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 139 0 0 103 13 11.2069 MICAL1 0 genome.wustl.edu 37 6 109767510 109767510 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 6 109767510 109767510 G A SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.2467 p.R823W 0.001 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 88 0 0 88 12 12 TDP2 0 genome.wustl.edu 37 6 24654688 24654688 + Missense_Mutation SNP A A C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 6 24654688 24654688 A C SNP TDP2 ENST00000545995 human ensembl 74_37 -1 known missense c.678 p.I226M 0.759 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like - no_errors TDP2 HGNC ENSG00000111802 107 1 0.925926 71 7 8.97436 PRSS35 0 genome.wustl.edu 37 6 84233267 84233267 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 6 84233267 84233267 G A SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.107 p.R36Q 0.993 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 185 0 0 167 13 7.22222 CNR1 0 genome.wustl.edu 37 6 88854252 88854252 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 6 88854252 88854252 C T SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.742 p.A248T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 100 0 0 66 9 12 DNAJC2 0 genome.wustl.edu 37 7 102968125 102968125 + Missense_Mutation SNP G G C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 7 102968125 102968125 G C SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.408 p.D136E 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 143 0 0 105 9 7.89474 DNAH11 0 genome.wustl.edu 37 7 21628979 21628979 + Missense_Mutation SNP C C A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 7 21628979 21628979 C A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.2127 p.F709L 0.979 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 189 0 0 136 15 9.93377 POM121L12 0 genome.wustl.edu 37 7 53103986 53103986 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 7 53103986 53103986 C T SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.622 p.R208W 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 52 0 0 47 7 12.963 BLK 0 genome.wustl.edu 37 8 11400743 11400743 + Missense_Mutation SNP G G C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 8 11400743 11400743 G C SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.10 p.V4L 0.671 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 79 0 0 56 7 11.1111 FZD3 0 genome.wustl.edu 37 8 28385012 28385012 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 8 28385012 28385012 C T SNP FZD3 ENST00000240093 human ensembl 74_37 +1 known silent c.735 p.Y245 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 264 0 0 190 22 10.3774 RAB11FIP1 0 genome.wustl.edu 37 8 37730604 37730604 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 8 37730604 37730604 G A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known silent c.1716 p.G572 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 119 0 0 110 6 5.17241 C8orf86 0 genome.wustl.edu 37 8 38374012 38374012 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 8 38374012 38374012 G A SNP C8orf86 ENST00000358138 human ensembl 74_37 -1 known missense c.334 p.H112Y 0.022 NULL NULL - no_errors C8orf86 HGNC ENSG00000196166 155 0 0 119 10 7.75194 CYP7B1 0 genome.wustl.edu 37 8 65509340 65509340 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 8 65509340 65509340 T G SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.1380 p.K460N 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 125 0 0 88 6 6.38298 NIPAL2 0 genome.wustl.edu 37 8 99224702 99224702 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 8 99224702 99224702 G A SNP NIPAL2 ENST00000341166 human ensembl 74_37 -1 known missense c.586 p.L196F 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC ENSG00000104361 93 0 0 78 7 8.23529 ASTN2 0 genome.wustl.edu 37 9 119976957 119976957 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 9 119976957 119976957 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.695 p.R232H 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 61 0 0 48 4 7.69231 CDK9 0 genome.wustl.edu 37 9 130551812 130551812 + Missense_Mutation SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 9 130551812 130551812 G A SNP CDK9 ENST00000373265 human ensembl 74_37 +1 known missense c.1460 p.R487H 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 CDK9 HGNC ENSG00000136807 82 0 0 82 6 6.81818 FBXW5 0 genome.wustl.edu 37 9 139836994 139836994 + RNA SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 9 139836994 139836994 C T SNP FBXW5 ENST00000483559 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors FBXW5 HGNC ENSG00000159069 29 0 0 29 6 17.1429 EHMT1 0 genome.wustl.edu 37 9 140646788 140646788 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 9 140646788 140646788 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.1176 p.D392 0.491 NULL 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 EHMT1 HGNC ENSG00000181090 40 0 0 27 4 12.9032 RECK 0 genome.wustl.edu 37 9 36087862 36087862 + Missense_Mutation SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 9 36087862 36087862 C T SNP RECK ENST00000377966 human ensembl 74_37 +1 known missense c.809 p.S270F 0.997 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 134 0 0 114 6 5 DCAF12L1 0 genome.wustl.edu 37 X 125685736 125685736 + Missense_Mutation SNP A A C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 X 125685736 125685736 A C SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.856 p.F286V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 64 0 0 57 17 22.973 CDR1 0 genome.wustl.edu 37 X 139865818 139865818 + Missense_Mutation SNP A A C TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 X 139865818 139865818 A C SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known missense c.714 p.I238M 0.001 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 162 0 0 101 22 17.8862 IRAK1 0 genome.wustl.edu 37 X 153284492 153284492 + Silent SNP G G A TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 X 153284492 153284492 G A SNP IRAK1 ENST00000369980 human ensembl 74_37 -1 known silent c.474 p.L158 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK1 HGNC ENSG00000184216 19 0 0 13 5 27.7778 RBBP7 0 genome.wustl.edu 37 X 16870931 16870931 + Missense_Mutation SNP T T G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 X 16870931 16870931 T G SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known missense c.826 p.N276H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 158 0 0 100 27 21.2598 ITIH6 0 genome.wustl.edu 37 X 54785304 54785304 + Silent SNP C C T TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 X 54785304 54785304 C T SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known silent c.1203 p.T401 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 20 0 0 15 4 21.0526 MTMR8 0 genome.wustl.edu 37 X 63568644 63568644 + Missense_Mutation SNP A A G TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 X 63568644 63568644 A G SNP MTMR8 ENST00000374852 human ensembl 74_37 -1 known missense c.628 p.S210P 0.994 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 36 0 0 53 3 5.35714 PIPSL 0 genome.wustl.edu 37 10 95718422 95718422 + RNA DEL T T - TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 10 95718422 95718422 T - DEL PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.177 - - - no_errors PIPSL HGNC ENSG00000180764 8 0 0 6 2 25 MEF2B 0 genome.wustl.edu 37 19 19260200 19260202 + In_Frame_Del DEL CTT CTT - TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 19 19260200 19260202 CTT - DEL MEF2B ENST00000162023 human ensembl 74_37 -1 known in_frame_del c.93_91 p.K31in_frame_del 1.000:1.000:1.000 pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2B HGNC ENSG00000213999 91 0 0 92 9 8.91089 NFE2L3 0 genome.wustl.edu 37 7 26225016 26225022 + Frame_Shift_Del DEL AAGTAGA AAGTAGA - TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 AAGTAGA AAGTAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 7 26225016 26225022 AAGTAGA - DEL NFE2L3 ENST00000056233 human ensembl 74_37 +1 known frame_shift_del c.1698_1704 p.L566fs 0.451:0.290:0.274:0.003:0.001:0.002:0.000 pfam_bZIP_Maf,superfamily_TF_DNA-bd pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 192 0 0 159 9 5.35714 ERCC6L 0 genome.wustl.edu 37 X 71426048 71426049 + Frame_Shift_Del DEL GT GT - TCGA-CD-5798-01A-11D-1600-08 TCGA-CD-5798-10A-01D-1600-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e0ea9a63-bf9e-42a8-bb3d-77580f4ba745 66b0705b-4698-4bae-a0a4-90724d7a16f1 X 71426048 71426049 GT - DEL ERCC6L ENST00000334463 human ensembl 74_37 -1 known frame_shift_del c.2569_2568 p.L857fs 0.000:0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 91 0 0 62 14 18.4211