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 PKP3 11187 genome.wustl.edu 36 11 387268 387268 + Missense_Mutation SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 11 387268 387268 G A SNP PKP3 NM_007183 human genbank 54_36p +1 reviewed missense c.767 p.S256N 1.000 NULL superfamily_ARM-type_fold,HMMPfam_Arm,HMMSmart_ARM - no_errors BSG 682 genome.wustl.edu 36 19 532411 532411 + Missense_Mutation SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 19 532411 532411 G A SNP BSG NM_001728 human genbank 54_36p +1 reviewed missense c.889 p.G297S 0.355 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors TH 7054 genome.wustl.edu 36 11 2144767 2144767 + Missense_Mutation SNP G G T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 11 2144767 2144767 G T SNP TH NM_199292 human genbank 54_36p -1 reviewed missense c.860 p.A287D 0.939 superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains,HMMPfam_Biopterin_H superfamily_ACT-like,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL - no_errors GNA11 2767 genome.wustl.edu 36 19 3070342 3070342 + Missense_Mutation SNP T T G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 19 3070342 3070342 T G SNP GNA11 NM_002067 human genbank 54_36p +1 validated missense c.874 p.F292V 1.000 superfamily_SSF52540,HMMPfam_G-alpha superfamily_SSF52540,HMMPfam_G-alpha,superfamily_Transducn_insert - no_errors FRAG1 27315 genome.wustl.edu 36 11 3795179 3795179 + Missense_Mutation SNP C C A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 11 3795179 3795179 C A SNP FRAG1 NM_014489 human genbank 54_36p +1 validated missense c.186 p.F62L 1.000 NULL HMMPfam_Frag1 - no_errors SRD5A1 6715 genome.wustl.edu 36 5 6716040 6716040 + Missense_Mutation SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 5 6716040 6716040 C T SNP SRD5A1 NM_001047 human genbank 54_36p +1 validated missense c.674 p.T225M 0.923 HMMPfam_Steroid_dh HMMPfam_Steroid_dh - no_errors TP53 7157 genome.wustl.edu 36 17 7517830 7517830 + Missense_Mutation SNP G G C novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 17 7517830 7517830 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.833 p.P278R 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors ITIH5 80760 genome.wustl.edu 36 10 7645300 7645300 + Missense_Mutation SNP G G T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 10 7645300 7645300 G T SNP ITIH5 NM_030569 human genbank 54_36p -1 validated missense c.2581 p.Q861K 0.000 HMMPfam_ITI_HC_C HMMSmart_SM00609,HMMPfam_VIT,HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_ITI_HC_C - no_errors C3AR1 719 genome.wustl.edu 36 12 8102930 8102930 + Silent SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 12 8102930 8102930 G A SNP C3AR1 NM_004054 human genbank 54_36p -1 validated silent c.1119 p.S373 0.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors USP7 7874 genome.wustl.edu 36 16 8897092 8897092 + Missense_Mutation SNP C C G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 16 8897092 8897092 C G SNP USP7 NM_003470 human genbank 54_36p -1 validated missense c.2827 p.E943Q 1.000 NULL superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors MICAL2 9645 genome.wustl.edu 36 11 12240617 12240617 + Missense_Mutation SNP C C A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 11 12240617 12240617 C A SNP MICAL2 NM_014632 human genbank 54_36p +1 provisional missense c.3349 p.P1117T 1.000 NULL superfamily_FAD/NAD(P)-binding domain,HMMPfam_FAD_binding_3,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM - no_errors STX10 8677 genome.wustl.edu 36 19 13121652 13121652 + Missense_Mutation SNP A A G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 19 13121652 13121652 A G SNP STX10 NM_003765 human genbank 54_36p -1 provisional missense c.95 p.L32P 1.000 superfamily_t-snare proteins,HMMPfam_Syntaxin-6_N superfamily_t-snare proteins,HMMPfam_Syntaxin-6_N,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN - no_errors RAI1 10743 genome.wustl.edu 36 17 17637827 17637827 + Silent SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 17 17637827 17637827 G A SNP RAI1 NM_030665 human genbank 54_36p +1 reviewed silent c.840 p.Q280 0.999 NULL HMMSmart_SM00249 - no_errors OR6S1 341799 genome.wustl.edu 36 14 20179469 20179469 + Silent SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 14 20179469 20179469 C T SNP OR6S1 NM_001001968 human genbank 54_36p -1 provisional silent c.222 p.L74 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PTCHD1 139411 genome.wustl.edu 36 X 23321983 23321983 + Silent SNP G G C novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad X 23321983 23321983 G C SNP PTCHD1 NM_173495 human genbank 54_36p +1 validated silent c.2427 p.L809 1.000 HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain - no_errors SLC5A11 115584 genome.wustl.edu 36 16 24830250 24830250 + Silent SNP C C G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 16 24830250 24830250 C G SNP SLC5A11 NM_052944 human genbank 54_36p +1 provisional silent c.1923 p.A641 0.000 NULL HMMPfam_SSF - no_errors SCAND3 114821 genome.wustl.edu 36 6 28651021 28651021 + Silent SNP T T A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 6 28651021 28651021 T A SNP SCAND3 NM_052923 human genbank 54_36p -1 provisional silent c.1440 p.R480 0.042 superfamily_RNaseH_fold,HMMPfam_rve HMMPfam_SCAN,HMMSmart_SCAN,superfamily_RNaseH_fold,HMMPfam_rve,HMMPfam_hATC - no_errors SYNJ1 8867 genome.wustl.edu 36 21 32940702 32940702 + Missense_Mutation SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 21 32940702 32940702 G A SNP SYNJ1 NM_003895 human genbank 54_36p -1 validated missense c.3119 p.T1040I 0.870 NULL HMMPfam_Syja_N,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD - no_errors TAPBP 6892 genome.wustl.edu 36 6 33389766 33389766 + Missense_Mutation SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 6 33389766 33389766 C T SNP TAPBP NM_003190 human genbank 54_36p -1 reviewed missense c.31 p.A11T 0.997 NULL superfamily_SSF48726,HMMPfam_C1-set - no_errors SIM2 6493 genome.wustl.edu 36 21 36993997 36993997 + Silent SNP C C A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 21 36993997 36993997 C A SNP SIM2 NM_005069 human genbank 54_36p +1 reviewed silent c.81 p.L27 1.000 HMMPfam_HLH,HMMSmart_SM00353 HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086,HMMPfam_SIM_C - no_errors C2orf56 55471 genome.wustl.edu 36 2 37316750 37316750 + Missense_Mutation SNP A A T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 2 37316750 37316750 A T SNP C2orf56 NM_144736 human genbank 54_36p +1 validated missense c.224 p.Y75F 0.996 NULL HMMPfam_DUF185 - no_errors N4BP2 55728 genome.wustl.edu 36 4 39820831 39820831 + Silent SNP T T A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 4 39820831 39820831 T A SNP N4BP2 NM_018177 human genbank 54_36p +1 reviewed silent c.4929 p.A1643 0.775 HMMPfam_DUF1771 superfamily_UBA-like,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DUF1771,HMMSmart_SM00463,HMMPfam_Smr - no_errors EP300 2033 genome.wustl.edu 36 22 39867025 39867025 + Missense_Mutation SNP A A G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 22 39867025 39867025 A G SNP EP300 NM_001429 human genbank 54_36p +1 reviewed missense c.1906 p.K636E 1.000 HMMPfam_KIX,superfamily_KIX superfamily_TAZ_finger,HMMPfam_zf-TAZ,HMMSmart_ZnF_TAZ,HMMPfam_KIX,superfamily_KIX,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,HMMPfam_DUF902,HMMPfam_DUF906,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_Creb_binding,superfamily_Nuc_recept_coact - no_errors CDC2L5 8621 genome.wustl.edu 36 7 40084218 40084218 + Missense_Mutation SNP G G C novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 7 40084218 40084218 G C SNP CDC2L5 NM_003718 human genbank 54_36p +1 reviewed missense c.2870 p.R957P 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors GFAP 2670 genome.wustl.edu 36 17 40344267 40344267 + Silent SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 17 40344267 40344267 C T SNP GFAP NM_002055 human genbank 54_36p -1 reviewed silent c.990 p.R330 0.711 HMMPfam_Filament HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF - no_errors PRODH2 58510 genome.wustl.edu 36 19 40995618 40995618 + Missense_Mutation SNP C C G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 19 40995618 40995618 C G SNP PRODH2 NM_021232 human genbank 54_36p -1 reviewed missense c.158 p.G53A 0.763 NULL HMMPfam_Pro_dh,superfamily_SSF51730 - no_errors ELL3 80237 genome.wustl.edu 36 15 41854858 41854858 + Missense_Mutation SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 15 41854858 41854858 C T SNP ELL3 NM_025165 human genbank 54_36p -1 validated missense c.583 p.V195I 0.271 HMMPfam_ELL HMMPfam_ELL,HMMPfam_Occludin_ELL - no_errors MCAT 27349 genome.wustl.edu 36 22 41859115 41859115 + Missense_Mutation SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 22 41859115 41859115 C T SNP MCAT NM_173467 human genbank 54_36p -1 reviewed missense c.1051 p.G351S 0.996 superfamily_FabD/lysophospholipase-like,HMMPfam_Acyl_transf_1 superfamily_FabD/lysophospholipase-like,HMMPfam_Acyl_transf_1,PatternScan_ABC_TRANSPORTER_1,superfamily_Probable ACP-binding domain of malonyl-CoA ACP transacylase - no_errors ZNF585A 199704 genome.wustl.edu 36 19 42338621 42338621 + Missense_Mutation SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 19 42338621 42338621 C T SNP ZNF585A NM_152655 human genbank 54_36p -1 validated missense c.113 p.R38H 0.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors POTEA 340441 genome.wustl.edu 36 8 43271390 43271390 + Missense_Mutation SNP C C G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 8 43271390 43271390 C G SNP POTEA NM_001005365 human genbank 54_36p +1 provisional missense c.370 p.Q124E 0.987 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors AIRE 326 genome.wustl.edu 36 21 44537399 44537399 + Silent SNP G G T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 21 44537399 44537399 G T SNP AIRE NM_000383 human genbank 54_36p +1 reviewed silent c.1191 p.L397 0.089 NULL HMMPfam_Sp100,superfamily_SAND domain-like,HMMPfam_SAND,HMMSmart_SM00258,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1 - no_errors OGDH 4967 genome.wustl.edu 36 7 44682330 44682330 + Missense_Mutation SNP G G T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 7 44682330 44682330 G T SNP OGDH NM_001003941 human genbank 54_36p +1 reviewed missense c.1263 p.M421I 0.001 HMMPfam_E1_dh superfamily_SSF52518,HMMPfam_E1_dh - no_errors TMEM106C 79022 genome.wustl.edu 36 12 46646027 46646027 + Missense_Mutation SNP C C A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 12 46646027 46646027 C A SNP TMEM106C NM_024056 human genbank 54_36p +1 validated missense c.391 p.L131I 0.104 HMMPfam_DUF1356 HMMPfam_DUF1356 - no_errors DCC 1630 genome.wustl.edu 36 18 49166508 49166508 + Splice_Site SNP T T A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 18 49166508 49166508 T A SNP DCC NM_005215 human genbank 54_36p +1 validated splice_site c.2455+2 e16+2 1.000 - - - no_errors CPT1B 1375 genome.wustl.edu 36 22 49362731 49362731 + Missense_Mutation SNP C C A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 22 49362731 49362731 C A SNP CPT1B NM_004377 human genbank 54_36p -1 reviewed missense c.169 p.G57C 1.000 NULL superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2 - no_errors MUT 4594 genome.wustl.edu 36 6 49534986 49534986 + Silent SNP C C A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 6 49534986 49534986 C A SNP MUT NM_000255 human genbank 54_36p -1 reviewed silent c.153 p.L51 1.000 superfamily_Cobalamin (vitamin B12)-dependent enzymes superfamily_Cobalamin (vitamin B12)-dependent enzymes,HMMPfam_MM_CoA_mutase,PatternScan_METMALONYL_COA_MUTASE,superfamily_Cobalamin (vitamin B12)-binding domain,HMMPfam_B12-binding - no_errors SALL4 57167 genome.wustl.edu 36 20 49839077 49839077 + Missense_Mutation SNP A A T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 20 49839077 49839077 A T SNP SALL4 NM_020436 human genbank 54_36p -1 reviewed missense c.2472 p.S824R 0.019 NULL HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 - no_errors PRKD2 25865 genome.wustl.edu 36 19 51909042 51909042 + Silent SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 19 51909042 51909042 G A SNP PRKD2 NM_001079880 human genbank 54_36p -1 reviewed silent c.297 p.D99 1.000 NULL superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors GLT8D1 55830 genome.wustl.edu 36 3 52704595 52704595 + Missense_Mutation SNP G G C novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 3 52704595 52704595 G C SNP GLT8D1 NM_001010983 human genbank 54_36p -1 reviewed missense c.694 p.L232V 1.000 superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8 superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8 - no_errors LOC647169 647169 genome.wustl.edu 36 6 52739046 52739046 + Silent SNP T T C novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 6 52739046 52739046 T C SNP LOC647169 XM_930196 human genbank 54_36p -1 model silent c.504 p.L168 0.904 superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C superfamily_Thioredoxin-like,HMMPfam_GST_N,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C - no_errors TSPYL2 64061 genome.wustl.edu 36 X 53131918 53131918 + Missense_Mutation SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad X 53131918 53131918 G A SNP TSPYL2 NM_022117 human genbank 54_36p +1 validated missense c.1619 p.G540D 0.003 NULL HMMPfam_NAP - no_errors RCN3 57333 genome.wustl.edu 36 19 54732207 54732207 + Missense_Mutation SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 19 54732207 54732207 C T SNP RCN3 NM_020650 human genbank 54_36p +1 provisional missense c.551 p.T184I 0.995 superfamily_SSF47473 superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,PatternScan_ER_TARGET - no_errors METTL2A 339175 genome.wustl.edu 36 17 57879769 57879769 + Missense_Mutation SNP C G G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 17 57879769 57879769 C G SNP METTL2A NM_181725 human genbank 54_36p +1 validated missense c.676 p.R226G 1.000 superfamily_S-adenosyl-L-methionine-dependent methyltransferases superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_12 - no_errors DACT1 51339 genome.wustl.edu 36 14 58183484 58183484 + Missense_Mutation SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 14 58183484 58183484 C T SNP DACT1 NM_016651 human genbank 54_36p +1 validated missense c.2390 p.T797M 0.028 NULL NULL - no_errors PRPF6 24148 genome.wustl.edu 36 20 62095273 62095273 + Silent SNP A A C novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 20 62095273 62095273 A C SNP PRPF6 NM_012469 human genbank 54_36p +1 reviewed silent c.429 p.S143 1.000 HMMPfam_PRP1_N HMMPfam_PRP1_N,HMMSmart_HAT,superfamily_SSF48452,HMMPfam_TPR_1 - no_errors SLC8A3 6547 genome.wustl.edu 36 14 69703471 69703471 + Missense_Mutation SNP A A C novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 14 69703471 69703471 A C SNP SLC8A3 NM_183002 human genbank 54_36p -1 reviewed missense c.1422 p.F474L 1.000 HMMSmart_SM00237,HMMPfam_Calx-beta HMMPfam_Na_Ca_ex,HMMSmart_SM00237,HMMPfam_Calx-beta - no_errors LRRC20 55222 genome.wustl.edu 36 10 71731141 71731141 + Missense_Mutation SNP T T G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 10 71731141 71731141 T G SNP LRRC20 NM_207119 human genbank 54_36p -1 validated missense c.530 p.E177A 0.916 NULL superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1 - no_errors SNX14 57231 genome.wustl.edu 36 6 86338762 86338762 + Missense_Mutation SNP C C G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 6 86338762 86338762 C G SNP SNX14 NM_153816 human genbank 54_36p -1 reviewed missense c.311 p.C104S 1.000 NULL HMMPfam_PXA,HMMSmart_SM00313,superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315,superfamily_PX domain,HMMSmart_SM00312,HMMPfam_PX,HMMPfam_Nexin_C - no_errors TRRAP 8295 genome.wustl.edu 36 7 98412205 98412205 + Missense_Mutation SNP A A G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 7 98412205 98412205 A G SNP TRRAP NM_003496 human genbank 54_36p +1 validated missense c.8048 p.N2683S 1.000 superfamily_ARM repeat superfamily_ARM repeat,PatternScan_COPPER_BLUE,superfamily_Protein prenylyltransferase,HMMPfam_FAT,superfamily_TPR-like,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC - no_errors TMOD1 7111 genome.wustl.edu 36 9 99393503 99393503 + Missense_Mutation SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 9 99393503 99393503 G A SNP TMOD1 NM_003275 human genbank 54_36p +1 provisional missense c.980 p.R327Q 1.000 HMMPfam_Tropomodulin,superfamily_SSF52047 HMMPfam_Tropomodulin,superfamily_SSF52047 - no_errors RCOR1 23186 genome.wustl.edu 36 14 102250513 102250513 + Missense_Mutation SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 14 102250513 102250513 G A SNP RCOR1 NM_015156 human genbank 54_36p +1 validated missense c.850 p.V284I 1.000 NULL HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors PMPCB 9512 genome.wustl.edu 36 7 102731609 102731609 + Missense_Mutation SNP A A T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 7 102731609 102731609 A T SNP PMPCB NM_004279 human genbank 54_36p +1 reviewed missense c.542 p.E181V 1.000 superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16 superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16,PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C - no_errors IL1RAPL2 26280 genome.wustl.edu 36 X 104897944 104897944 + Silent SNP T T A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad X 104897944 104897944 T A SNP IL1RAPL2 NM_017416 human genbank 54_36p +1 reviewed silent c.1695 p.P565 0.992 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors DRD2 1813 genome.wustl.edu 36 11 112800319 112800319 + Missense_Mutation SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 11 112800319 112800319 G A SNP DRD2 NM_000795 human genbank 54_36p -1 reviewed missense c.265 p.P89S 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ZNF80 7634 genome.wustl.edu 36 3 115438124 115438124 + Missense_Mutation SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 3 115438124 115438124 C T SNP ZNF80 NM_007136 human genbank 54_36p -1 validated missense c.488 p.C163Y 0.204 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors UPF3B 65109 genome.wustl.edu 36 X 118856398 118856398 + Nonsense_Mutation SNP T T A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad X 118856398 118856398 T A SNP UPF3B NM_080632 human genbank 54_36p -1 reviewed nonsense c.967 p.K323* 0.999 NULL HMMPfam_Smg4_UPF3,superfamily_RNA-binding domain RBD - no_errors PTPN4 5775 genome.wustl.edu 36 2 120356570 120356570 + Missense_Mutation SNP A A T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 2 120356570 120356570 A T SNP PTPN4 NM_002830 human genbank 54_36p +1 reviewed missense c.488 p.Q163L 1.000 HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_FA,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1 - no_errors POPDC2 64091 genome.wustl.edu 36 3 120861831 120861831 + Missense_Mutation SNP C C A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 3 120861831 120861831 C A SNP POPDC2 NM_022135 human genbank 54_36p -1 reviewed missense c.130 p.G44C 1.000 NULL HMMPfam_Popeye,superfamily_cAMP-binding domain-like - no_errors LAMA2 3908 genome.wustl.edu 36 6 129650813 129650813 + Missense_Mutation SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 6 129650813 129650813 G A SNP LAMA2 NM_000426 human genbank 54_36p +1 reviewed missense c.2666 p.C889Y 1.000 superfamily_ConA_like_lec_gl,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_LAM_1 HMMSmart_LamNT,HMMPfam_Laminin_N,superfamily_Gal_bind_like,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_SSF57196,PatternScan_EGF_2,HMMSmart_LamB,HMMPfam_Laminin_B,HMMPfam_Laminin_I,superfamily_SSF56399,HMMPfam_Laminin_II,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 - no_errors OPCML 4978 genome.wustl.edu 36 11 131795343 131795343 + Missense_Mutation SNP A A T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 11 131795343 131795343 A T SNP OPCML NM_002545 human genbank 54_36p -1 reviewed missense c.992 p.L331H 1.000 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig - no_errors SLC13A4 26266 genome.wustl.edu 36 7 135016918 135016918 + Missense_Mutation SNP A A T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 7 135016918 135016918 A T SNP SLC13A4 NM_012450 human genbank 54_36p -1 validated missense c.1814 p.V605D 0.217 HMMPfam_Na_sulph_symp HMMPfam_Na_sulph_symp - no_errors PARP12 64761 genome.wustl.edu 36 7 139370883 139370883 + Silent SNP C C G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 7 139370883 139370883 C G SNP PARP12 NM_022750 human genbank 54_36p -1 provisional silent c.2052 p.S684 0.000 superfamily_ADP-ribosylation HMMPfam_zf-CCCH,HMMSmart_SM00356,superfamily_CCCH zinc finger,superfamily_ADP-ribosylation,HMMPfam_PARP - no_errors ARAP3 64411 genome.wustl.edu 36 5 141032647 141032647 + Nonsense_Mutation SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 5 141032647 141032647 G A SNP ARAP3 NM_022481 human genbank 54_36p -1 reviewed nonsense c.1123 p.Q375* 1.000 superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH HMMSmart_SAM,superfamily_SAM_homology,HMMPfam_SAM_2,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP,HMMPfam_RA - no_errors ENSG00000204987 0 genome.wustl.edu 36 7 141535713 141535713 + Missense_Mutation SNP C G G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 7 141535713 141535713 C G SNP ENSG00000204987 ENST00000378229 human ensembl 54_36p +1 known missense c.1066 p.P356A 0.003 HMMPfam_Glyco_hydro_31 HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_N6_MTASE - no_stop_codon FLG 2312 genome.wustl.edu 36 1 150551252 150551252 + Missense_Mutation SNP G G A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 1 150551252 150551252 G A SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.2734 p.R912C 0.003 HMMPfam_Filaggrin superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin - no_errors SLC36A1 206358 genome.wustl.edu 36 5 150826952 150826952 + Splice_Site SNP G G C novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 5 150826952 150826952 G C SNP SLC36A1 NM_078483 human genbank 54_36p +1 reviewed splice_site c.420-1 e5-1 0.998 - - - no_errors MLL3 58508 genome.wustl.edu 36 7 151548640 151548640 + Nonsense_Mutation SNP T T A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 7 151548640 151548640 T A SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed nonsense c.3613 p.K1205* 1.000 NULL PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00184,PatternScan_ZF_PHD_1,PatternScan_ATPASE_ALPHA_BETA,HMMSmart_SM00398,HMMPfam_HMG_box,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors RIF1 55183 genome.wustl.edu 36 2 152002097 152002097 + Missense_Mutation SNP G G C novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 2 152002097 152002097 G C SNP RIF1 NM_018151 human genbank 54_36p +1 validated missense c.1469 p.G490A 1.000 superfamily_ARM repeat superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1 - no_errors SI 6476 genome.wustl.edu 36 3 166224241 166224241 + Missense_Mutation SNP T T A novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 3 166224241 166224241 T A SNP SI NM_001041 human genbank 54_36p -1 validated missense c.2910 p.K970N 0.000 HMMSmart_SM00018,superfamily_Trefoil HMMSmart_SM00018,superfamily_Trefoil,HMMPfam_Trefoil,PatternScan_P_TREFOIL,HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2 - no_errors RGS1 5996 genome.wustl.edu 36 1 190813996 190813996 + Missense_Mutation SNP G G C novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 1 190813996 190813996 G C SNP RGS1 NM_002922 human genbank 54_36p +1 reviewed missense c.302 p.S101T 0.068 superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315 superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315 - no_errors SYT14 255928 genome.wustl.edu 36 1 208395767 208395767 + Missense_Mutation SNP T T G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 1 208395767 208395767 T G SNP SYT14 NM_153262 human genbank 54_36p +1 validated missense c.1243 p.S415A 1.000 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors FN1 2335 genome.wustl.edu 36 2 216001219 216001219 + Missense_Mutation SNP C C T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 2 216001219 216001219 C T SNP FN1 NM_212482 human genbank 54_36p -1 reviewed missense c.773 p.C258Y 1.000 superfamily_Fibronectin type I module,HMMPfam_fn1,PatternScan_FN1_1,HMMSmart_SM00058 superfamily_Fibronectin type I module,HMMPfam_fn1,PatternScan_FN1_1,HMMSmart_SM00058,PatternScan_EGF_1,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_ALDEHYDE_DEHYDR_GLU - no_errors TGFB2 7042 genome.wustl.edu 36 1 216681253 216681253 + Missense_Mutation SNP C C G novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 1 216681253 216681253 C G SNP TGFB2 NM_003238 human genbank 54_36p +1 validated missense c.1171 p.L391V 1.000 superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204 HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1 - no_errors KCNE4 23704 genome.wustl.edu 36 2 223626157 223626157 + Missense_Mutation SNP G G T novel unknown TCGA-36-2542-01A-01D-1526-09 TCGA-36-2542-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8a9443a6-52aa-425a-8bb1-20f431e1dc6d ed30ac44-0fcf-4db0-b9c0-3733f049c4ad 2 223626157 223626157 G T SNP KCNE4 NM_080671 human genbank 54_36p +1 validated missense c.365 p.G122V 0.998 NULL HMMPfam_ISK_Channel - no_errors