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 ENSG00000210140 0 genome.wustl.edu 36 MT 5823 5823 + RNA SNP G A A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f MT 5823 5823 G A SNP ENSG00000210140 ENST00000387405 human ensembl 54_36p -1 novel rna NULL NULL NULL - - - no_errors ENSG00000215615 0 genome.wustl.edu 36 NT_113889 39903 39903 + Silent SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f NT_113889 39903 39903 C T SNP ENSG00000215615 ENST00000400681 human ensembl 54_36p -1 known silent c.414 p.M138 NULL HMMPfam_Tektin HMMPfam_Tektin - no_stop_codon BAIAP3 8938 genome.wustl.edu 36 16 1328910 1328910 + Silent SNP C T T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 16 1328910 1328910 C T SNP BAIAP3 NM_003933 human genbank 54_36p +1 reviewed silent c.243 p.P81 0.013 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD - no_errors MAD1L1 8379 genome.wustl.edu 36 7 2227077 2227077 + Missense_Mutation SNP G A A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 7 2227077 2227077 G A SNP MAD1L1 ENST00000402746 human ensembl 54_36p -1 known missense c.163 p.R55W 0.001 HMMPfam_MAD HMMPfam_MAD - no_errors SIGLEC1 6614 genome.wustl.edu 36 20 3622875 3622875 + Silent SNP G A A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 20 3622875 3622875 G A SNP SIGLEC1 NM_023068 human genbank 54_36p -1 reviewed silent c.3249 p.D1083 0.778 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set - no_errors LOC729057 729057 genome.wustl.edu 36 22 14503346 14503346 + RNA SNP C C A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 22 14503346 14503346 C A SNP LOC729057 XR_042044 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - no_errors FLCN 201163 genome.wustl.edu 36 17 17066700 17066700 + Missense_Mutation SNP C T T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 17 17066700 17066700 C T SNP FLCN NM_144997 human genbank 54_36p -1 reviewed missense c.619 p.V207M 1.000 NULL NULL - no_errors LOC729524 729524 genome.wustl.edu 36 13 18138868 18138868 + RNA SNP T T G novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 13 18138868 18138868 T G SNP LOC729524 XR_015575 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene OR4N2 390429 genome.wustl.edu 36 14 19365956 19365956 + Missense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 14 19365956 19365956 G A SNP OR4N2 NM_001004723 human genbank 54_36p +1 provisional missense c.509 p.G170D 0.273 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ENSG00000187905 0 genome.wustl.edu 36 22 19732372 19732372 + Missense_Mutation SNP G A A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 22 19732372 19732372 G A SNP ENSG00000187905 ENST00000342608 human ensembl 54_36p +1 known missense c.482 p.R161H 0.000 NULL superfamily_SSF52047 - no_errors TOP3B 8940 genome.wustl.edu 36 22 20654757 20654757 + Missense_Mutation SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 22 20654757 20654757 C T SNP TOP3B NM_003935 human genbank 54_36p -1 reviewed missense c.406 p.V136I 0.975 HMMSmart_SM00493,HMMPfam_Toprim,superfamily_Prokaryotic type I DNA topoisomerase HMMSmart_SM00493,HMMPfam_Toprim,superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMPfam_Topoisom_bac,HMMSmart_SM00437,PatternScan_TOPOISOMERASE_I_PROK - no_errors GGTLC2 91227 genome.wustl.edu 36 22 21319594 21319594 + Missense_Mutation SNP G G T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 22 21319594 21319594 G T SNP GGTLC2 NM_199127 human genbank 54_36p +1 validated missense c.446 p.R149L 0.001 NULL HMMPfam_G_glu_transpept,PatternScan_G_GLU_TRANSPEPTIDASE - no_errors NCAM2 4685 genome.wustl.edu 36 21 21586412 21586412 + Missense_Mutation SNP A A T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 21 21586412 21586412 A T SNP NCAM2 NM_004540 human genbank 54_36p +1 reviewed missense c.599 p.D200V 0.998 superfamily_SSF48726 HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors DSC2 1824 genome.wustl.edu 36 18 26916379 26916379 + Silent SNP T T C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 18 26916379 26916379 T C SNP DSC2 NM_024422 human genbank 54_36p -1 reviewed silent c.1086 p.T362 0.683 superfamily_Cadherin-like,HMMPfam_Cadherin superfamily_Cadherin-like,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1 - no_errors EMILIN1 11117 genome.wustl.edu 36 2 27160120 27160120 + Missense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 2 27160120 27160120 G A SNP EMILIN1 NM_007046 human genbank 54_36p +1 validated missense c.2177 p.R726Q 0.826 NULL HMMPfam_EMI,HMMPfam_Collagen,superfamily_TNF_like,HMMPfam_C1q - no_errors EPHX2 2053 genome.wustl.edu 36 8 27457620 27457620 + Missense_Mutation SNP A A G novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 8 27457620 27457620 A G SNP EPHX2 NM_001979 human genbank 54_36p +1 reviewed missense c.1531 p.I511V 1.000 superfamily_SSF53474,HMMPfam_Abhydrolase_1 HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF53474,HMMPfam_Abhydrolase_1 - no_errors ELP3 55140 genome.wustl.edu 36 8 28073792 28073792 + Missense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 8 28073792 28073792 G A SNP ELP3 NM_018091 human genbank 54_36p +1 validated missense c.1385 p.R462H 1.000 superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_Acetyltransf_1 superfamily_Radical SAM enzymes,HMMSmart_SM00729,HMMPfam_Radical_SAM,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_Acetyltransf_1 - no_errors ZNF24 7572 genome.wustl.edu 36 18 31173934 31173934 + Missense_Mutation SNP G G C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 18 31173934 31173934 G C SNP ZNF24 NM_006965 human genbank 54_36p -1 validated missense c.425 p.S142C 1.000 HMMSmart_SCAN HMMPfam_SCAN,HMMSmart_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ITPR3 3710 genome.wustl.edu 36 6 33744336 33744336 + Silent SNP C C G novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 6 33744336 33744336 C G SNP ITPR3 NM_002224 human genbank 54_36p +1 validated silent c.1953 p.L651 1.000 HMMPfam_RYDR_ITPR HMMPfam_Ins145_P3_rec,superfamily_MIR,HMMSmart_MIR,HMMPfam_MIR,superfamily_SSF100909,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans - no_errors KRT19 3880 genome.wustl.edu 36 17 36933615 36933615 + Missense_Mutation SNP T C C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 17 36933615 36933615 T C SNP KRT19 NM_002276 human genbank 54_36p -1 reviewed missense c.1109 p.K370R 1.000 HMMPfam_Filament HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors SLC25A15 10166 genome.wustl.edu 36 13 40279594 40279594 + Missense_Mutation SNP A A G novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 13 40279594 40279594 A G SNP SLC25A15 NM_014252 human genbank 54_36p +1 validated missense c.617 p.E206G 1.000 superfamily_Mitochondrial carrier superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors LOC642424 0 genome.wustl.edu 36 10 41992514 41992514 + Missense_Mutation SNP T T C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 10 41992514 41992514 T C SNP LOC642424 XM_001717196 human genbank 54_36p +1 model missense c.47 p.L16P 0.002 NULL HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin - no_errors LOC728064 728064 genome.wustl.edu 36 10 42519665 42519665 + RNA SNP C C G novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 10 42519665 42519665 C G SNP LOC728064 XR_015196 human genbank 54_36p -1 model rna NULL NULL 0.650 - - - no_errors HDAC10 83933 genome.wustl.edu 36 22 49026642 49026642 + Missense_Mutation SNP C T T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 22 49026642 49026642 C T SNP HDAC10 NM_032019 human genbank 54_36p -1 validated missense c.1657 p.G553S 0.084 superfamily_Arginase/deacetylase superfamily_Arginase/deacetylase,HMMPfam_Hist_deacetyl - no_errors ZNF404 342908 genome.wustl.edu 36 19 49068871 49068871 + Silent SNP T T C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 19 49068871 49068871 T C SNP ZNF404 NM_001033719 human genbank 54_36p -1 validated silent c.1335 p.G445 1.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors FGD1 2245 genome.wustl.edu 36 X 54489556 54489556 + Missense_Mutation SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f X 54489556 54489556 C T SNP FGD1 NM_004463 human genbank 54_36p -1 reviewed missense c.2597 p.R866H 1.000 superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE - no_errors TIMM9 26520 genome.wustl.edu 36 14 57945578 57945578 + Missense_Mutation SNP C C G novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 14 57945578 57945578 C G SNP TIMM9 NM_012460 human genbank 54_36p -1 provisional missense c.197 p.R66T 1.000 HMMPfam_zf-Tim10_DDP HMMPfam_zf-Tim10_DDP - no_errors PTPRH 5794 genome.wustl.edu 36 19 60388739 60388739 + Missense_Mutation SNP A A G novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 19 60388739 60388739 A G SNP PTPRH NM_002842 human genbank 54_36p -1 reviewed missense c.3005 p.M1002T 0.014 superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404 HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors DNAJC5 80331 genome.wustl.edu 36 20 62032676 62032676 + Missense_Mutation SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 20 62032676 62032676 C T SNP DNAJC5 NM_025219 human genbank 54_36p +1 provisional missense c.350 p.T117M 0.996 superfamily_Chaperone J-domain superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,PatternScan_DNAJ_1 - no_errors ZBTB3 79842 genome.wustl.edu 36 11 62276504 62276504 + Silent SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 11 62276504 62276504 C T SNP ZBTB3 NM_024784 human genbank 54_36p -1 validated silent c.1359 p.L453 0.001 NULL superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors WDR74 54663 genome.wustl.edu 36 11 62363598 62363598 + Silent SNP G G C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 11 62363598 62363598 G C SNP WDR74 NM_018093 human genbank 54_36p -1 validated silent c.21 p.R7 0.957 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors MRGPRD 116512 genome.wustl.edu 36 11 68504212 68504212 + Missense_Mutation SNP C T T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 11 68504212 68504212 C T SNP MRGPRD NM_198923 human genbank 54_36p -1 validated missense c.820 p.V274I 0.318 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors ZFHX3 463 genome.wustl.edu 36 16 71389896 71389896 + Missense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 16 71389896 71389896 G A SNP ZFHX3 NM_006885 human genbank 54_36p -1 validated missense c.4186 p.R1396C 1.000 superfamily_C2H2 and C2HC zinc fingers superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors TMEM63C 57156 genome.wustl.edu 36 14 76775526 76775526 + Silent SNP T C C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 14 76775526 76775526 T C SNP TMEM63C NM_020431 human genbank 54_36p +1 validated silent c.744 p.S248 0.999 NULL HMMPfam_DUF221 - no_errors SEC31A 22872 genome.wustl.edu 36 4 83984584 83984584 + Missense_Mutation SNP G G T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 4 83984584 83984584 G T SNP SEC31A NM_001077207 human genbank 54_36p -1 reviewed missense c.2605 p.P869T 1.000 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors NBN 4683 genome.wustl.edu 36 8 91051850 91051850 + Missense_Mutation SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 8 91051850 91051850 C T SNP NBN NM_002485 human genbank 54_36p -1 reviewed missense c.814 p.D272N 1.000 NULL superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMPfam_BRCT,HMMPfam_Nbs1_C - no_errors ANO4 121601 genome.wustl.edu 36 12 99819678 99819678 + Missense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 12 99819678 99819678 G A SNP ANO4 ENST00000392979 human ensembl 54_36p +1 known missense c.167 p.G56D 1.000 NULL HMMPfam_DUF590 - no_start_codon TBC1D8B 54885 genome.wustl.edu 36 X 105957128 105957128 + Missense_Mutation SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f X 105957128 105957128 C T SNP TBC1D8B NM_017752 human genbank 54_36p +1 validated missense c.1108 p.R370C 1.000 NULL HMMPfam_GRAM,HMMSmart_SM00568,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_EF-hand,PatternScan_EF_HAND_1 - no_errors LOC642741 642741 genome.wustl.edu 36 6 108432946 108432946 + RNA SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 6 108432946 108432946 G A SNP LOC642741 XR_016455 human genbank 54_36p -1 model rna NULL NULL 0.964 - - - pseudogene MVK 4598 genome.wustl.edu 36 12 108503660 108503660 + Missense_Mutation SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 12 108503660 108503660 C T SNP MVK NM_000431 human genbank 54_36p +1 reviewed missense c.449 p.S150L 0.983 superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_GHMP_kinases_N superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_GHMP_kinases_N,PatternScan_GHMP_KINASES_ATP,superfamily_GHMP Kinase C-terminal domain,HMMPfam_GHMP_kinases_C - no_errors ACTL7A 10881 genome.wustl.edu 36 9 110664546 110664546 + Silent SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 9 110664546 110664546 C T SNP ACTL7A NM_006687 human genbank 54_36p +1 reviewed silent c.123 p.A41 0.953 NULL HMMPfam_Actin,superfamily_Actin-like ATPase domain,HMMSmart_SM00268 - no_errors C12orf51 283450 genome.wustl.edu 36 12 111105454 111105454 + Splice_Site SNP C C A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 12 111105454 111105454 C A SNP C12orf51 NM_001109662 human genbank 54_36p -1 validated splice_site c.9514-1 e55-1 1.000 - - - no_errors PTPN3 5774 genome.wustl.edu 36 9 111239016 111239016 + Missense_Mutation SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 9 111239016 111239016 C T SNP PTPN3 NM_002829 human genbank 54_36p -1 reviewed missense c.643 p.D215N 0.995 HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729 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,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1 - no_errors TDRD1 56165 genome.wustl.edu 36 10 115970397 115970397 + Missense_Mutation SNP G C C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 10 115970397 115970397 G C SNP TDRD1 NM_198795 human genbank 54_36p +1 reviewed missense c.2575 p.A859P 1.000 NULL HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMPfam_TUDOR,superfamily_SSF63748,HMMSmart_TUDOR - no_errors FGFR2 2263 genome.wustl.edu 36 10 123269664 123269664 + Missense_Mutation SNP G G C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 10 123269664 123269664 G C SNP FGFR2 NM_022970 human genbank 54_36p -1 reviewed missense c.758 p.P253R 0.988 NULL superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors OR8B3 390271 genome.wustl.edu 36 11 123771874 123771874 + Missense_Mutation SNP T T A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 11 123771874 123771874 T A SNP OR8B3 NM_001005467 human genbank 54_36p -1 provisional missense c.584 p.N195I 0.139 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 INTU 27152 genome.wustl.edu 36 4 128844839 128844839 + Missense_Mutation SNP G A A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 4 128844839 128844839 G A SNP INTU NM_015693 human genbank 54_36p +1 provisional missense c.1510 p.D504N 1.000 NULL HMMSmart_SM00228,superfamily_PDZ domain-like - no_errors PODXL 5420 genome.wustl.edu 36 7 130846611 130846611 + Missense_Mutation SNP G G C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 7 130846611 130846611 G C SNP PODXL NM_001018111 human genbank 54_36p -1 reviewed missense c.222 p.I74M 0.000 NULL HMMPfam_CD34_antigen - no_errors OR2A4 79541 genome.wustl.edu 36 6 132063466 132063466 + Missense_Mutation SNP T T A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 6 132063466 132063466 T A SNP OR2A4 NM_030908 human genbank 54_36p -1 provisional missense c.769 p.M257L 0.995 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors UBN2 254048 genome.wustl.edu 36 7 138619542 138619542 + Missense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 7 138619542 138619542 G A SNP UBN2 NM_173569 human genbank 54_36p +1 validated missense c.3102 p.M1034I 0.097 NULL PatternScan_TUBULIN - no_errors PCDHA8 56140 genome.wustl.edu 36 5 140201379 140201379 + Missense_Mutation SNP G G C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 5 140201379 140201379 G C SNP PCDHA8 NM_018911 human genbank 54_36p +1 reviewed missense c.289 p.G97R 0.705 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors LOC100132804 0 genome.wustl.edu 36 7 143975201 143975201 + RNA SNP A A T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 7 143975201 143975201 A T SNP LOC100132804 XR_038193 human genbank 54_36p -1 model rna NULL NULL 0.616 - - - pseudogene LOC729497 729497 genome.wustl.edu 36 4 146766189 146766189 + RNA SNP G T T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 4 146766189 146766189 G T SNP LOC729497 XR_015940 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene NEB 4703 genome.wustl.edu 36 2 152208634 152208634 + Silent SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 2 152208634 152208634 G A SNP NEB NM_004543 human genbank 54_36p -1 reviewed silent c.7900 p.L2634 1.000 HMMSmart_SM00227 HMMSmart_SM00227,HMMPfam_Nebulin,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors FCRL4 83417 genome.wustl.edu 36 1 155825635 155825635 + Missense_Mutation SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 1 155825635 155825635 C T SNP FCRL4 NM_031282 human genbank 54_36p -1 provisional missense c.290 p.R97H 0.000 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors ADAM19 8728 genome.wustl.edu 36 5 156848026 156848026 + Missense_Mutation SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 5 156848026 156848026 C T SNP ADAM19 NM_033274 human genbank 54_36p -1 reviewed missense c.2375 p.R792Q 0.999 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_2" - no_errors ATP10B 23120 genome.wustl.edu 36 5 159980348 159980348 + Missense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 5 159980348 159980348 G A SNP ATP10B NM_025153 human genbank 54_36p -1 validated missense c.2000 p.S667F 0.005 superfamily_HAD-like HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Hydrolase_3 - no_errors DUSP27 92235 genome.wustl.edu 36 1 165364120 165364120 + Missense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 1 165364120 165364120 G A SNP DUSP27 NM_001080426 human genbank 54_36p +1 provisional missense c.3128 p.R1043H 0.976 NULL PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc - no_errors WDR49 151790 genome.wustl.edu 36 3 168729534 168729534 + Missense_Mutation SNP C C A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 3 168729534 168729534 C A SNP WDR49 NM_178824 human genbank 54_36p -1 provisional missense c.1350 p.E450D 1.000 superfamily_WD40 repeat-like superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors HNRNPA3 220988 genome.wustl.edu 36 2 177790692 177790692 + Silent SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 2 177790692 177790692 C T SNP HNRNPA3 NM_194247 human genbank 54_36p +1 validated silent c.834 p.G278 0.979 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors DCTD 1635 genome.wustl.edu 36 4 184073649 184073649 + Missense_Mutation SNP C T T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 4 184073649 184073649 C T SNP DCTD NM_001012732 human genbank 54_36p -1 reviewed missense c.100 p.A34T 1.000 HMMPfam_dCMP_cyt_deam_1,superfamily_Cytidine_deaminase-like HMMPfam_dCMP_cyt_deam_1,superfamily_Cytidine_deaminase-like,PatternScan_CYT_DCMP_DEAMINASES - no_errors CRB1 23418 genome.wustl.edu 36 1 195663266 195663266 + Missense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 1 195663266 195663266 G A SNP CRB1 NM_201253 human genbank 54_36p +1 reviewed missense c.2188 p.D730N 0.411 superfamily_Concanavalin A-like lectins/glucanases superfamily_EGF/Laminin,HMMSmart_SM00181,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_C_TYPE_LECTIN_1 - no_errors CRB1 23418 genome.wustl.edu 36 1 195663387 195663387 + Missense_Mutation SNP G G C novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 1 195663387 195663387 G C SNP CRB1 NM_201253 human genbank 54_36p +1 reviewed missense c.2309 p.G770A 0.998 HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_EGF/Laminin - no_errors USH2A 7399 genome.wustl.edu 36 1 213915517 213915517 + Missense_Mutation SNP C C T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 1 213915517 213915517 C T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.12359 p.R4120H 0.962 superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2 - no_errors MARCH4 57574 genome.wustl.edu 36 2 216942713 216942713 + Missense_Mutation SNP C C G novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 2 216942713 216942713 C G SNP MARCH4 NM_020814 human genbank 54_36p -1 validated missense c.516 p.Q172H 1.000 HMMSmart_RINGv,HMMPfam_zf-C3HC4 HMMSmart_RINGv,HMMPfam_zf-C3HC4 - no_errors GNPAT 8443 genome.wustl.edu 36 1 229468478 229468478 + Nonsense_Mutation SNP G G T novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 1 229468478 229468478 G T SNP GNPAT NM_014236 human genbank 54_36p +1 reviewed nonsense c.868 p.E290* 1.000 superfamily_SSF69593 HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC - no_errors LRRFIP1 9208 genome.wustl.edu 36 2 238352865 238352865 + Missense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 2 238352865 238352865 G A SNP LRRFIP1 ENST00000308482 human ensembl 54_36p +1 known missense c.1874 p.R625H 1.000 NULL HMMPfam_DUF2051 - no_errors CEP170 9859 genome.wustl.edu 36 1 241395019 241395019 + Nonsense_Mutation SNP G G A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 1 241395019 241395019 G A SNP CEP170 NM_014812 human genbank 54_36p -1 reviewed nonsense c.2866 p.R956* 1.000 NULL superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA - no_errors OR2L3 391192 genome.wustl.edu 36 1 246291442 246291442 + Missense_Mutation SNP C C A novel unknown TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dd837ff4-200c-4a34-8041-32e8bea0735d 0a8ad60d-da44-4fce-8678-59772304d75f 1 246291442 246291442 C A SNP OR2L3 NM_001004687 human genbank 54_36p +1 provisional missense c.836 p.T279N 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