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 MT-CO1 4512 genome.wustl.edu 36 MT 7294 7294 + Missense_Mutation SNP G A A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 MT 7294 7294 G A SNP MT-CO1 ENST00000361624 human ensembl 54_36p +1 known missense c.1390 p.A464T NULL superfamily_Cytochrome c oxidase subunit I-like superfamily_Cytochrome c oxidase subunit I-like,HMMPfam_COX1,PatternScan_COX1_CUB - no_stop_codon MT-CYB 4519 genome.wustl.edu 36 MT 15340 15340 + Missense_Mutation SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 MT 15340 15340 T C SNP MT-CYB ENST00000361789 human ensembl 54_36p +1 known missense c.593 p.L198P NULL superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C - no_stop_codon:bad_bp_length_for_coding_region CETN1 1068 genome.wustl.edu 36 18 570774 570774 + Silent SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 18 570774 570774 G A SNP CETN1 NM_004066 human genbank 54_36p +1 reviewed silent c.366 p.S122 0.397 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,PatternScan_DEAD_ATP_HELICASE - no_errors MED16 10025 genome.wustl.edu 36 19 822095 822095 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 19 822095 822095 C G SNP MED16 NM_005481 human genbank 54_36p -1 validated missense c.2257 p.G753R 0.999 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors RNU6-2 26826 genome.wustl.edu 36 19 972622 972622 + RNA SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 19 972622 972622 A G SNP RNU6-2 ENST00000384627 human ensembl 54_36p +1 known rna NULL NULL 0.907 - - - no_errors WDR37 22884 genome.wustl.edu 36 10 1160258 1160258 + Missense_Mutation SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 10 1160258 1160258 A G SNP WDR37 NM_014023 human genbank 54_36p +1 reviewed missense c.1204 p.I402V 1.000 superfamily_WD40_like superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors SLC6A3 6531 genome.wustl.edu 36 5 1494484 1494484 + Silent SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 5 1494484 1494484 G A SNP SLC6A3 NM_001044 human genbank 54_36p -1 validated silent c.408 p.P136 0.974 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors Magmas 51025 genome.wustl.edu 36 16 4330366 4330366 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 16 4330366 4330366 G C SNP Magmas NM_016069 human genbank 54_36p -1 provisional missense c.333 p.I111M 1.000 HMMPfam_Pam16 HMMPfam_Pam16 - no_errors TP53 7157 genome.wustl.edu 36 17 7518304 7518304 + Nonsense_Mutation SNP G C C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 17 7518304 7518304 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.702 p.Y234* 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 MTRR 4552 genome.wustl.edu 36 5 7944483 7944483 + Splice_Site SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 5 7944483 7944483 A G SNP MTRR NM_024010 human genbank 54_36p +1 reviewed splice_site c.1409-2 e10-2 1.000 - - - no_errors MRVI1 10335 genome.wustl.edu 36 11 10571661 10571661 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 11 10571661 10571661 G C SNP MRVI1 NM_001098579 human genbank 54_36p -1 reviewed missense c.2102 p.P701R 1.000 HMMPfam_MRVI1 HMMPfam_MRVI1 - no_errors MYOCD 93649 genome.wustl.edu 36 17 12607436 12607436 + Missense_Mutation SNP T T G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 17 12607436 12607436 T G SNP MYOCD NM_153604 human genbank 54_36p +1 provisional missense c.2567 p.I856S 0.992 NULL HMMSmart_SM00707,superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513 - no_errors CEP76 79959 genome.wustl.edu 36 18 12676335 12676335 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 18 12676335 12676335 G C SNP CEP76 NM_024899 human genbank 54_36p -1 provisional missense c.1048 p.R350G 1.000 NULL PatternScan_WD_REPEATS_1 - no_errors DNAH5 1767 genome.wustl.edu 36 5 13834064 13834064 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 5 13834064 13834064 G C SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.8825 p.S2942C 1.000 superfamily_SSF52540 HMMPfam_DHC_N1,superfamily_Spectrin,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors LIPI 149998 genome.wustl.edu 36 21 14438939 14438939 + Missense_Mutation SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 21 14438939 14438939 A G SNP LIPI NM_198996 human genbank 54_36p -1 validated missense c.1234 p.Y412H 0.620 NULL HMMPfam_Lipase,superfamily_SSF53474 - no_errors EAF1 85403 genome.wustl.edu 36 3 15452874 15452874 + Missense_Mutation SNP T T G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 3 15452874 15452874 T G SNP EAF1 NM_033083 human genbank 54_36p +1 validated missense c.548 p.I183S 0.997 NULL HMMPfam_EAF - no_errors CYP4F8 11283 genome.wustl.edu 36 19 15587547 15587547 + Silent SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 19 15587547 15587547 C T SNP CYP4F8 ENST00000325723 human ensembl 54_36p +1 known silent c.120 p.A40 0.087 NULL superfamily_Cytochrome P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450 - no_errors ABCC6 368 genome.wustl.edu 36 16 16152076 16152076 + Missense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 16 16152076 16152076 C A SNP ABCC6 NM_001171 human genbank 54_36p -1 reviewed missense c.4263 p.Q1421H 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors CLCNKA 1187 genome.wustl.edu 36 1 16226980 16226980 + Missense_Mutation SNP G G T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 16226980 16226980 G T SNP CLCNKA NM_004070 human genbank 54_36p +1 reviewed missense c.859 p.A287S 0.274 superfamily_Cl-channel_core,HMMPfam_Voltage_CLC superfamily_Cl-channel_core,HMMPfam_Voltage_CLC,superfamily_SSF54631,HMMPfam_CBS,HMMSmart_CBS - no_errors TRPV2 51393 genome.wustl.edu 36 17 16266799 16266799 + Missense_Mutation SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 17 16266799 16266799 G A SNP TRPV2 NM_016113 human genbank 54_36p +1 reviewed missense c.496 p.A166T 1.000 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_Ion_trans - no_errors TMEM38A 79041 genome.wustl.edu 36 19 16660107 16660107 + Missense_Mutation SNP T T A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 19 16660107 16660107 T A SNP TMEM38A NM_024074 human genbank 54_36p +1 provisional missense c.825 p.H275Q 0.150 NULL HMMPfam_DUF714 - no_errors VIM 7431 genome.wustl.edu 36 10 17316774 17316774 + Missense_Mutation SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 10 17316774 17316774 G A SNP VIM NM_003380 human genbank 54_36p +1 validated missense c.959 p.R320Q 1.000 HMMPfam_Filament HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF - no_errors MAP3K15 389840 genome.wustl.edu 36 X 19300814 19300814 + Nonsense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 X 19300814 19300814 C A SNP MAP3K15 NM_001001671 human genbank 54_36p -1 validated nonsense c.1411 p.E471* 0.996 NULL HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology - no_errors APOB 338 genome.wustl.edu 36 2 21079132 21079132 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 21079132 21079132 C G SNP APOB NM_000384 human genbank 54_36p -1 reviewed missense c.12667 p.E4223Q 0.071 NULL superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081 - no_errors KIAA0100 9703 genome.wustl.edu 36 17 23986676 23986676 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 17 23986676 23986676 G C SNP KIAA0100 NM_014680 human genbank 54_36p -1 validated missense c.2056 p.L686V 0.138 NULL HMMPfam_Mqo,HMMPfam_Fmp27_GFWDK,HMMPfam_Apt1 - no_errors FKBP1B 2281 genome.wustl.edu 36 2 24139465 24139465 + Missense_Mutation SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 24139465 24139465 A G SNP FKBP1B NM_004116 human genbank 54_36p +1 reviewed missense c.226 p.T76A 1.000 superfamily_FKBP-like,HMMPfam_FKBP_C superfamily_FKBP-like,HMMPfam_FKBP_C - no_errors TAOK1 57551 genome.wustl.edu 36 17 24818324 24818324 + Silent SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 17 24818324 24818324 C T SNP TAOK1 NM_020791 human genbank 54_36p +1 validated silent c.168 p.I56 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ATAD5 79915 genome.wustl.edu 36 17 26208233 26208233 + Nonsense_Mutation SNP A A T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 17 26208233 26208233 A T SNP ATAD5 NM_024857 human genbank 54_36p +1 provisional nonsense c.2770 p.K924* 0.007 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA - no_errors DHDDS 79947 genome.wustl.edu 36 1 26668091 26668091 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 26668091 26668091 G C SNP DHDDS NM_024887 human genbank 54_36p +1 validated missense c.887 p.R296P 1.000 NULL superfamily_Undecaprenyl diphosphate synthase,HMMPfam_Prenyltransf,PatternScan_UPP_SYNTHETASE - no_errors GTF3C1 2975 genome.wustl.edu 36 16 27457157 27457157 + Silent SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 16 27457157 27457157 G A SNP GTF3C1 NM_001520 human genbank 54_36p -1 validated silent c.453 p.I151 0.626 HMMPfam_B-block_TFIIIC HMMPfam_B-block_TFIIIC - no_errors FLT1 2321 genome.wustl.edu 36 13 27811358 27811358 + Missense_Mutation SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 13 27811358 27811358 C T SNP FLT1 NM_002019 human genbank 54_36p -1 validated missense c.2435 p.R812Q 0.989 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMSmart_SM00406,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR - no_errors NOL4 8715 genome.wustl.edu 36 18 29777050 29777050 + Missense_Mutation SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 18 29777050 29777050 T C SNP NOL4 NM_003787 human genbank 54_36p -1 validated missense c.1519 p.R507G 1.000 NULL NULL - no_errors IER3 8870 genome.wustl.edu 36 6 30820148 30820148 + Nonsense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 6 30820148 30820148 C A SNP IER3 NM_003897 human genbank 54_36p -1 reviewed nonsense c.127 p.E43* 0.968 NULL NULL - no_errors ADAMTS12 81792 genome.wustl.edu 36 5 33563204 33563204 + Missense_Mutation SNP A A C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 5 33563204 33563204 A C SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed missense c.4631 p.L1544R 0.973 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors IFNAR1 3454 genome.wustl.edu 36 21 33646987 33646987 + Silent SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 21 33646987 33646987 G C SNP IFNAR1 NM_000629 human genbank 54_36p +1 reviewed silent c.1197 p.L399 0.758 superfamily_Fibronectin type III superfamily_Fibronectin type III - no_errors FAM47A 158724 genome.wustl.edu 36 X 34058264 34058264 + Missense_Mutation SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 X 34058264 34058264 A G SNP FAM47A NM_203408 human genbank 54_36p -1 predicted missense c.2053 p.S685P 0.006 NULL NULL - no_errors GJB3 2707 genome.wustl.edu 36 1 35023534 35023534 + Missense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 35023534 35023534 C A SNP GJB3 NM_001005752 human genbank 54_36p +1 reviewed missense c.584 p.S195Y 0.886 HMMPfam_Connexin_CCC HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2 - no_errors SLC32A1 140679 genome.wustl.edu 36 20 36789996 36789996 + Missense_Mutation SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 20 36789996 36789996 C T SNP SLC32A1 NM_080552 human genbank 54_36p +1 reviewed missense c.878 p.A293V 1.000 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors VIT 5212 genome.wustl.edu 36 2 36889495 36889495 + Missense_Mutation SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 36889495 36889495 C T SNP VIT NM_053276 human genbank 54_36p +1 provisional missense c.1766 p.T589M 1.000 superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA superfamily_LCCL,HMMSmart_LCCL,HMMPfam_LCCL,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA - no_errors NIPBL 25836 genome.wustl.edu 36 5 37096782 37096782 + Missense_Mutation SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 5 37096782 37096782 C T SNP NIPBL NM_133433 human genbank 54_36p +1 reviewed missense c.7765 p.H2589Y 1.000 NULL superfamily_ARM repeat - no_errors TTC3 7267 genome.wustl.edu 36 21 37382416 37382416 + Missense_Mutation SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 21 37382416 37382416 G A SNP TTC3 NM_001001894 human genbank 54_36p +1 validated missense c.238 p.D80N 1.000 NULL HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,superfamily_Spectrin,superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4 - no_errors WNK4 65266 genome.wustl.edu 36 17 38193389 38193389 + Silent SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 17 38193389 38193389 G A SNP WNK4 NM_032387 human genbank 54_36p +1 validated silent c.1809 p.Q603 0.911 superfamily_Protein kinase-like (PK-like) superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors EXOG 9941 genome.wustl.edu 36 3 38517917 38517917 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 3 38517917 38517917 C G SNP EXOG NM_005107 human genbank 54_36p +1 reviewed missense c.381 p.F127L 0.888 superfamily_His-Me finger endonucleases,HMMPfam_Endonuclease_NS,HMMSmart_SM00477 superfamily_His-Me finger endonucleases,HMMPfam_Endonuclease_NS,HMMSmart_SM00477 - no_errors CNTN1 1272 genome.wustl.edu 36 12 39610064 39610064 + Missense_Mutation SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 12 39610064 39610064 A G SNP CNTN1 NM_001843 human genbank 54_36p +1 reviewed missense c.696 p.I232M 0.975 HMMPfam_V-set,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,PatternScan_N6_MTASE,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors PRICKLE1 144165 genome.wustl.edu 36 12 41140048 41140048 + Nonsense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 12 41140048 41140048 C A SNP PRICKLE1 NM_153026 human genbank 54_36p -1 validated nonsense c.2326 p.G776* 1.000 NULL HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716 - no_errors TCEB3B 51224 genome.wustl.edu 36 18 42813658 42813658 + Missense_Mutation SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 18 42813658 42813658 T C SNP TCEB3B NM_016427 human genbank 54_36p -1 reviewed missense c.1976 p.E659G 0.024 NULL HMMPfam_TFIIS,HMMSmart_TFS2N,HMMPfam_Elongin_A - no_errors SLC22A7 10864 genome.wustl.edu 36 6 43378101 43378101 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 6 43378101 43378101 C G SNP SLC22A7 NM_153320 human genbank 54_36p +1 reviewed missense c.1247 p.A416G 0.003 HMMPfam_MFS_1,superfamily_MFS general substrate transporter HMMPfam_MFS_1,superfamily_MFS general substrate transporter - no_errors TDGF1 6997 genome.wustl.edu 36 3 46597705 46597705 + Missense_Mutation SNP G G T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 3 46597705 46597705 G T SNP TDGF1 NM_003212 human genbank 54_36p +1 validated missense c.528 p.M176I 0.023 NULL PatternScan_EGF_2,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,HMMPfam_CFC - no_errors LRP4 4038 genome.wustl.edu 36 11 46849726 46849726 + Nonsense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 11 46849726 46849726 C A SNP LRP4 NM_002334 human genbank 54_36p -1 validated nonsense c.4618 p.E1540* 1.000 superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b - no_errors ARHGEF1 9138 genome.wustl.edu 36 19 47092587 47092587 + Missense_Mutation SNP G G T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 19 47092587 47092587 G T SNP ARHGEF1 ENST00000316079 human ensembl 54_36p +1 known missense c.1421 p.C474F 0.003 NULL HMMPfam_RGS-like,superfamily_Regulator of G-protein signaling RGS - no_start_codon CDC14C 168448 genome.wustl.edu 36 7 48935874 48935874 + RNA SNP G G T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 7 48935874 48935874 G T SNP CDC14C NR_003595 human genbank 54_36p +1 provisional rna NULL NULL 0.995 - - - pseudogene LOC283116 283116 genome.wustl.edu 36 11 49015704 49015704 + Missense_Mutation SNP T T A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 11 49015704 49015704 T A SNP LOC283116 XM_208043 human genbank 54_36p +1 model missense c.958 p.Y320N 0.009 NULL PatternScan_ZF_RING_1,superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMPfam_SPRY - no_errors LAMB2 3913 genome.wustl.edu 36 3 49134182 49134182 + Missense_Mutation SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 3 49134182 49134182 G A SNP LAMB2 NM_002292 human genbank 54_36p -1 reviewed missense c.5039 p.A1680V 1.000 NULL HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,PatternScan_EGF_2 - no_errors CCDC8 83987 genome.wustl.edu 36 19 51607281 51607281 + Silent SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 19 51607281 51607281 C T SNP CCDC8 NM_032040 human genbank 54_36p -1 validated silent c.627 p.R209 0.906 NULL NULL - no_errors PELO 53918 genome.wustl.edu 36 5 52132644 52132644 + Missense_Mutation SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 5 52132644 52132644 A G SNP PELO NM_015946 human genbank 54_36p +1 reviewed missense c.659 p.Y220C 1.000 HMMPfam_eRF1_2 HMMPfam_eRF1_1,HMMPfam_eRF1_2,superfamily_L30e-like,HMMPfam_eRF1_3 - no_errors ALPK2 115701 genome.wustl.edu 36 18 54355598 54355598 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 18 54355598 54355598 G C SNP ALPK2 NM_052947 human genbank 54_36p -1 validated missense c.2801 p.P934R 0.001 NULL superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase - no_errors ALAS2 212 genome.wustl.edu 36 X 55064271 55064271 + Missense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 X 55064271 55064271 C A SNP ALAS2 NM_000032 human genbank 54_36p -1 reviewed missense c.577 p.V193F 1.000 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2 HMMPfam_Preseq_ALAS,superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2,PatternScan_AA_TRANSFER_CLASS_2 - no_errors OR5AR1 219493 genome.wustl.edu 36 11 56188371 56188371 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 11 56188371 56188371 C G SNP OR5AR1 NM_001004730 human genbank 54_36p +1 provisional missense c.634 p.L212V 0.980 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors P2RX3 5024 genome.wustl.edu 36 11 56892115 56892115 + Missense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 11 56892115 56892115 C A SNP P2RX3 NM_002559 human genbank 54_36p +1 reviewed missense c.899 p.A300D 0.994 HMMPfam_P2X_receptor HMMPfam_P2X_receptor,PatternScan_P2X_RECEPTOR - no_errors ASL 435 genome.wustl.edu 36 7 65178371 65178371 + Silent SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 7 65178371 65178371 C G SNP ASL ENST00000395332 human ensembl 54_36p +1 known silent c.108 p.L36 0.000 NULL HMMPfam_Lyase_1,superfamily_L-aspartase-like,PatternScan_FUMARATE_LYASES - no_start_codon SLC12A4 6560 genome.wustl.edu 36 16 66536573 66536573 + Silent SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 16 66536573 66536573 G A SNP SLC12A4 NM_005072 human genbank 54_36p -1 validated silent c.3084 p.V1028 0.999 NULL HMMPfam_AA_permease,HMMPfam_KCl_Cotrans_1 - no_errors NUP107 57122 genome.wustl.edu 36 12 67421890 67421890 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 12 67421890 67421890 C G SNP NUP107 NM_020401 human genbank 54_36p +1 reviewed missense c.2533 p.Q845E 1.000 HMMPfam_Nup84_Nup100 HMMPfam_Nup84_Nup100 - no_errors MARVELD2 153562 genome.wustl.edu 36 5 68764629 68764629 + Silent SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 5 68764629 68764629 C T SNP MARVELD2 NM_001038603 human genbank 54_36p +1 provisional silent c.1456 p.L486 1.000 HMMPfam_Occludin_ELL HMMPfam_MARVEL,HMMPfam_Occludin_ELL - no_errors SLC8A3 6547 genome.wustl.edu 36 14 69704435 69704435 + Missense_Mutation SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 14 69704435 69704435 A G SNP SLC8A3 NM_183002 human genbank 54_36p -1 reviewed missense c.458 p.I153T 1.000 HMMPfam_Na_Ca_ex HMMPfam_Na_Ca_ex,HMMSmart_SM00237,HMMPfam_Calx-beta - no_errors NUP85 79902 genome.wustl.edu 36 17 70740557 70740557 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 17 70740557 70740557 G C SNP NUP85 NM_024844 human genbank 54_36p +1 reviewed missense c.1413 p.K471N 1.000 HMMPfam_Nucleopor_Nup85 HMMPfam_Nucleopor_Nup85 - no_errors C4orf35 85438 genome.wustl.edu 36 4 71235614 71235614 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 4 71235614 71235614 C G SNP C4orf35 NM_033122 human genbank 54_36p +1 validated missense c.269 p.T90S 0.111 NULL NULL - no_errors KCNQ5 56479 genome.wustl.edu 36 6 73843821 73843821 + Missense_Mutation SNP T T A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 6 73843821 73843821 T A SNP KCNQ5 NM_019842 human genbank 54_36p +1 reviewed missense c.672 p.N224K 0.983 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel - no_errors OIT3 170392 genome.wustl.edu 36 10 74353993 74353993 + Missense_Mutation SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 10 74353993 74353993 G A SNP OIT3 NM_152635 human genbank 54_36p +1 provisional missense c.952 p.V318M 1.000 HMMPfam_Zona_pellucida,HMMSmart_SM00241 superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_CA,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_Zona_pellucida,HMMSmart_SM00241 - no_errors TTLL5 23093 genome.wustl.edu 36 14 75302453 75302453 + Silent SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 14 75302453 75302453 T C SNP TTLL5 NM_015072 human genbank 54_36p +1 validated silent c.2004 p.N668 0.990 NULL HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like - no_errors LOC400403 0 genome.wustl.edu 36 15 75976683 75976683 + RNA SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 15 75976683 75976683 C T SNP LOC400403 XR_038194 human genbank 54_36p +1 model rna NULL NULL 0.504 - - - pseudogene ADAMTS7 11173 genome.wustl.edu 36 15 76845854 76845854 + Missense_Mutation SNP G G T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 15 76845854 76845854 G T SNP ADAMTS7 NM_014272 human genbank 54_36p -1 reviewed missense c.3454 p.P1152T 0.000 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors DOPEY1 23033 genome.wustl.edu 36 6 83905393 83905393 + Missense_Mutation SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 6 83905393 83905393 G A SNP DOPEY1 NM_015018 human genbank 54_36p +1 validated missense c.4913 p.G1638D 1.000 NULL HMMPfam_Dopey_N - no_errors AGPAT9 84803 genome.wustl.edu 36 4 84721775 84721775 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 4 84721775 84721775 G C SNP AGPAT9 NM_032717 human genbank 54_36p +1 validated missense c.245 p.G82A 0.997 NULL HMMPfam_Acyltransferase,HMMSmart_PlsC - no_errors SYTL2 54843 genome.wustl.edu 36 11 85122939 85122939 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 11 85122939 85122939 C G SNP SYTL2 NM_032943 human genbank 54_36p -1 reviewed missense c.1078 p.E360Q 0.999 NULL superfamily_FYVE/PHD zinc finger,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors PICALM 8301 genome.wustl.edu 36 11 85457358 85457358 + Missense_Mutation SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 11 85457358 85457358 T C SNP PICALM NM_007166 human genbank 54_36p -1 validated missense c.113 p.K38R 1.000 superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273 superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273,superfamily_GAT-like domain - no_errors ABCB4 5244 genome.wustl.edu 36 7 86870389 86870389 + Missense_Mutation SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 7 86870389 86870389 T C SNP ABCB4 NM_018849 human genbank 54_36p -1 reviewed missense c.3652 p.K1218E 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors ANKRD11 29123 genome.wustl.edu 36 16 87862419 87862419 + Missense_Mutation SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 16 87862419 87862419 C T SNP ANKRD11 NM_013275 human genbank 54_36p -1 validated missense c.7960 p.V2654I 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors ZNF276 92822 genome.wustl.edu 36 16 88317188 88317188 + Silent SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 16 88317188 88317188 C T SNP ZNF276 NM_152287 human genbank 54_36p +1 validated silent c.351 p.S117 1.000 NULL HMMPfam_zf-AD,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors F3 2152 genome.wustl.edu 36 1 94770503 94770503 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 94770503 94770503 G C SNP F3 NM_001993 human genbank 54_36p -1 reviewed missense c.713 p.P238R 0.000 superfamily_FN_III-like HMMPfam_Tissue_fac,superfamily_FN_III-like,PatternScan_TISSUE_FACTOR - no_errors MEPCE 56257 genome.wustl.edu 36 7 99866136 99866136 + Silent SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 7 99866136 99866136 C T SNP MEPCE NM_019606 human genbank 54_36p +1 provisional silent c.559 p.L187 1.000 NULL superfamily_SSF53335,HMMPfam_Bin3 - no_errors ARMCX3 51566 genome.wustl.edu 36 X 100766658 100766658 + Silent SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 X 100766658 100766658 C T SNP ARMCX3 NM_016607 human genbank 54_36p +1 reviewed silent c.33 p.T11 1.000 NULL superfamily_ARM-type_fold,HMMPfam_DUF634 - no_errors GPR128 84873 genome.wustl.edu 36 3 101856474 101856474 + Missense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 3 101856474 101856474 C A SNP GPR128 NM_032787 human genbank 54_36p +1 provisional missense c.1485 p.N495K 0.012 HMMPfam_7tm_2 PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2 - no_errors TECPR2 9895 genome.wustl.edu 36 14 101971180 101971180 + Missense_Mutation SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 14 101971180 101971180 A G SNP TECPR2 NM_014844 human genbank 54_36p +1 validated missense c.2273 p.Y758C 1.000 NULL PatternScan_WD_REPEATS_1,HMMSmart_WD40,superfamily_WD40_like,HMMSmart_TECPR,HMMPfam_Hyd_WA - no_errors TRAF3 7187 genome.wustl.edu 36 14 102406332 102406332 + Missense_Mutation SNP A A C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 14 102406332 102406332 A C SNP TRAF3 NM_003300 human genbank 54_36p +1 reviewed missense c.41 p.Q14P 0.492 NULL superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_Traf_like,HMMPfam_zf-TRAF,HMMSmart_MATH,HMMPfam_MATH - no_errors TCEAL1 9338 genome.wustl.edu 36 X 102771814 102771814 + Missense_Mutation SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 X 102771814 102771814 G A SNP TCEAL1 NM_001006639 human genbank 54_36p +1 reviewed missense c.314 p.R105K 0.977 HMMPfam_TFA HMMPfam_TFA - no_errors CNNM2 54805 genome.wustl.edu 36 10 104668263 104668263 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 10 104668263 104668263 G C SNP CNNM2 NM_017649 human genbank 54_36p +1 validated missense c.36 p.K12N 0.998 NULL HMMPfam_DUF21,HMMPfam_CBS - no_errors TACR3 6870 genome.wustl.edu 36 4 104798849 104798849 + Missense_Mutation SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 4 104798849 104798849 A G SNP TACR3 NM_001059 human genbank 54_36p -1 reviewed missense c.709 p.W237R 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors MTA1 9112 genome.wustl.edu 36 14 105001798 105001798 + Missense_Mutation SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 14 105001798 105001798 C T SNP MTA1 NM_004689 human genbank 54_36p +1 reviewed missense c.1193 p.T398I 1.000 HMMSmart_SM00401,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_GATA HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_ELM2,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,superfamily_Homeodomain-like,HMMSmart_SM00401,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_GATA - no_errors SH3PXD2A 9644 genome.wustl.edu 36 10 105351934 105351934 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 10 105351934 105351934 C G SNP SH3PXD2A NM_014631 human genbank 54_36p -1 validated missense c.2947 p.G983R 0.008 NULL HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors NPNT 255743 genome.wustl.edu 36 4 107107847 107107847 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 4 107107847 107107847 C G SNP NPNT NM_001033047 human genbank 54_36p +1 validated missense c.1399 p.R467G 0.987 HMMSmart_SM00137,HMMPfam_MAM superfamily_Growth factor receptor domain,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,superfamily_EGF/Laminin,HMMSmart_SM00137,HMMPfam_MAM - no_errors LAMB1 3912 genome.wustl.edu 36 7 107426111 107426111 + Silent SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 7 107426111 107426111 G A SNP LAMB1 NM_002291 human genbank 54_36p -1 reviewed silent c.276 p.D92 0.995 HMMSmart_SM00136,HMMPfam_Laminin_N HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_Prefoldin - no_errors EPS8L3 79574 genome.wustl.edu 36 1 110101304 110101304 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 110101304 110101304 C G SNP EPS8L3 NM_139053 human genbank 54_36p -1 reviewed missense c.979 p.A327P 0.001 NULL HMMPfam_PTB,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors TMEM77 128338 genome.wustl.edu 36 1 111462948 111462948 + Splice_Site SNP A A G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 111462948 111462948 A G SNP TMEM77 NM_178454 human genbank 54_36p -1 validated splice_site c.693+2 e6+2 1.000 - - - no_errors PSD4 23550 genome.wustl.edu 36 2 113667981 113667981 + Silent SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 113667981 113667981 C G SNP PSD4 NM_012455 human genbank 54_36p +1 validated silent c.2166 p.P722 1.000 HMMPfam_Sec7,superfamily_Sec7 domain,HMMSmart_SM00222 HMMPfam_Sec7,superfamily_Sec7 domain,HMMSmart_SM00222,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors KLHL13 90293 genome.wustl.edu 36 X 116919864 116919864 + Silent SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 X 116919864 116919864 G A SNP KLHL13 NM_033495 human genbank 54_36p -1 validated silent c.1440 p.G480 1.000 superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1 - no_errors PHLDB1 23187 genome.wustl.edu 36 11 117992083 117992083 + Missense_Mutation SNP A A C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 11 117992083 117992083 A C SNP PHLDB1 NM_015157 human genbank 54_36p +1 validated missense c.302 p.N101T 1.000 superfamily_SMAD/FHA domain,HMMPfam_FHA superfamily_SMAD/FHA domain,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors TMEM136 219902 genome.wustl.edu 36 11 119703356 119703356 + Missense_Mutation SNP A A C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 11 119703356 119703356 A C SNP TMEM136 NM_174926 human genbank 54_36p +1 provisional missense c.62 p.H21P 0.015 NULL HMMPfam_TRAM_LAG1_CLN8 - no_errors SEMA5B 54437 genome.wustl.edu 36 3 124114851 124114851 + Silent SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 3 124114851 124114851 C T SNP SEMA5B NM_001031702 human genbank 54_36p -1 validated silent c.2391 p.R797 0.944 NULL superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 - no_errors BIN1 274 genome.wustl.edu 36 2 127534659 127534659 + Silent SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 127534659 127534659 C A SNP BIN1 NM_139346 human genbank 54_36p -1 reviewed silent c.792 p.L264 1.000 NULL HMMSmart_BAR,HMMPfam_BAR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors MCM2 4171 genome.wustl.edu 36 3 128820645 128820645 + Missense_Mutation SNP G G T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 3 128820645 128820645 G T SNP MCM2 NM_004526 human genbank 54_36p +1 reviewed missense c.2099 p.S700I 0.002 HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540 superfamily_Nucleic_acid_OB,HMMSmart_MCM,HMMPfam_MCM,superfamily_SSF52540,PatternScan_MCM_1 - no_errors LOC100129103 0 genome.wustl.edu 36 10 131461479 131461479 + Silent SNP C T T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 10 131461479 131461479 C T SNP LOC100129103 XM_001714423 human genbank 54_36p +1 model silent c.1227 p.P409 0.013 NULL NULL - no_errors TAAR1 134864 genome.wustl.edu 36 6 133008361 133008361 + Missense_Mutation SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 6 133008361 133008361 T C SNP TAAR1 NM_138327 human genbank 54_36p -1 provisional missense c.475 p.I159V 0.999 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors C3orf36 80111 genome.wustl.edu 36 3 135130306 135130306 + Missense_Mutation SNP T T A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 3 135130306 135130306 T A SNP C3orf36 NM_025041 human genbank 54_36p -1 validated missense c.32 p.E11V 0.005 NULL NULL - no_errors LCT 3938 genome.wustl.edu 36 2 136274708 136274708 + Missense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 136274708 136274708 C A SNP LCT NM_002299 human genbank 54_36p -1 reviewed missense c.4805 p.W1602L 1.000 HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat superfamily_Glyco_hydro_cat,HMMPfam_Glyco_hydro_1,PatternScan_GLYCOSYL_HYDROL_F1_2,PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors PERP 64065 genome.wustl.edu 36 6 138470080 138470080 + Missense_Mutation SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 6 138470080 138470080 C T SNP PERP NM_022121 human genbank 54_36p -1 validated missense c.91 p.A31T 0.991 NULL NULL - no_errors PCYOX1L 78991 genome.wustl.edu 36 5 148728369 148728369 + Missense_Mutation SNP G G T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 5 148728369 148728369 G T SNP PCYOX1L NM_024028 human genbank 54_36p +1 provisional missense c.1444 p.D482Y 1.000 HMMPfam_Prenylcys_lyase superfamily_FAD/NAD(P)-binding domain,HMMPfam_DAO,HMMPfam_Prenylcys_lyase - no_errors HRNR 388697 genome.wustl.edu 36 1 150457657 150457657 + Nonsense_Mutation SNP A A T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 150457657 150457657 A T SNP HRNR NM_001009931 human genbank 54_36p -1 validated nonsense c.3072 p.Y1024* 0.107 HMMPfam_SVS_QK superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK - no_errors S100A9 6280 genome.wustl.edu 36 1 151599938 151599938 + Nonstop_Mutation SNP A A C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 151599938 151599938 A C SNP S100A9 NM_002965 human genbank 54_36p +1 reviewed nonstop c.345 p.*115Y 0.001 NULL superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1 - no_errors IRAK1 3654 genome.wustl.edu 36 X 152937717 152937717 + Missense_Mutation SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 X 152937717 152937717 G A SNP IRAK1 NM_001569 human genbank 54_36p -1 reviewed missense c.443 p.P148L 0.937 NULL superfamily_DEATH domain,HMMPfam_Death,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors BCAN 63827 genome.wustl.edu 36 1 154885015 154885015 + Silent SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 154885015 154885015 G A SNP BCAN NM_021948 human genbank 54_36p +1 validated silent c.801 p.K267 0.877 HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like HMMPfam_V-set,HMMSmart_SM00409,superfamily_Immunoglobulin,HMMSmart_SM00406,PatternScan_IG_MHC,superfamily_C-type lectin-like,HMMSmart_SM00445,HMMPfam_Xlink,PatternScan_LINK_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors NES 10763 genome.wustl.edu 36 1 154909084 154909084 + Missense_Mutation SNP T T G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 154909084 154909084 T G SNP NES NM_006617 human genbank 54_36p -1 reviewed missense c.1520 p.K507T 0.381 NULL HMMPfam_Filament,PatternScan_IF - no_errors FCRL5 83416 genome.wustl.edu 36 1 155757478 155757478 + Missense_Mutation SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 155757478 155757478 T C SNP FCRL5 NM_031281 human genbank 54_36p -1 validated missense c.2468 p.N823S 0.931 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors AIM2 9447 genome.wustl.edu 36 1 157299111 157299111 + Missense_Mutation SNP T T G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 157299111 157299111 T G SNP AIM2 NM_004833 human genbank 54_36p -1 reviewed missense c.1027 p.T343P 0.001 NULL superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_HIN - no_errors UAP1 6675 genome.wustl.edu 36 1 160802500 160802500 + Silent SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 160802500 160802500 C G SNP UAP1 NM_003115 human genbank 54_36p +1 validated silent c.18 p.L6 0.989 superfamily_Nucleotide-diphospho-sugar transferases superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_UDPGP - no_errors ILDR2 387597 genome.wustl.edu 36 1 165211110 165211110 + Missense_Mutation SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 165211110 165211110 C T SNP ILDR2 NM_199351 human genbank 54_36p -1 provisional missense c.20 p.R7K 0.002 NULL superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_LSR - no_errors SI 6476 genome.wustl.edu 36 3 166208452 166208452 + Missense_Mutation SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 3 166208452 166208452 T C SNP SI NM_001041 human genbank 54_36p -1 validated missense c.4208 p.N1403S 0.964 HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases 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 TTC21B 79809 genome.wustl.edu 36 2 166445492 166445492 + Missense_Mutation SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 166445492 166445492 C T SNP TTC21B NM_024753 human genbank 54_36p -1 validated missense c.3748 p.A1250T 1.000 superfamily_TPR-like superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 - no_errors BAT2D1 23215 genome.wustl.edu 36 1 169753397 169753397 + Silent SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 169753397 169753397 T C SNP BAT2D1 ENST00000392080 human ensembl 54_36p +1 known silent c.564 p.P188 0.186 NULL HMMPfam_BAT2_N - no_errors PDLIM7 9260 genome.wustl.edu 36 5 176849416 176849416 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 5 176849416 176849416 G C SNP PDLIM7 NM_005451 human genbank 54_36p -1 reviewed missense c.596 p.P199R 0.998 NULL HMMPfam_PDZ,superfamily_PDZ domain-like,HMMSmart_SM00228,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,HMMPfam_LIM,PatternScan_LIM_DOMAIN_1 - no_errors RMND5B 64777 genome.wustl.edu 36 5 177503613 177503613 + Nonsense_Mutation SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 5 177503613 177503613 C T SNP RMND5B NM_022762 human genbank 54_36p +1 provisional nonsense c.592 p.R198* 1.000 HMMSmart_SM00668 HMMSmart_SM00667,HMMSmart_SM00668,HMMSmart_SM00757,superfamily_RING/U-box - no_errors HNRNPA3 220988 genome.wustl.edu 36 2 177792233 177792233 + Missense_Mutation SNP C C G novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 177792233 177792233 C G SNP HNRNPA3 NM_194247 human genbank 54_36p +1 validated missense c.1097 p.S366C 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors QSOX1 5768 genome.wustl.edu 36 1 178432288 178432288 + Silent SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 178432288 178432288 C T SNP QSOX1 NM_002826 human genbank 54_36p +1 reviewed silent c.1737 p.D579 0.001 NULL superfamily_Thioredoxin-like,HMMPfam_Thioredoxin,superfamily_FAD-dependent thiol oxidase,HMMPfam_Evr1_Alr - no_errors LOC728247 728247 genome.wustl.edu 36 3 199331628 199331628 + RNA SNP C C T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 3 199331628 199331628 C T SNP LOC728247 XR_015241 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene IL10 3586 genome.wustl.edu 36 1 205012331 205012331 + Nonsense_Mutation SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 205012331 205012331 G A SNP IL10 NM_000572 human genbank 54_36p -1 reviewed nonsense c.73 p.Q25* 0.064 HMMPfam_IL10 HMMPfam_IL10,superfamily_4-helical cytokines,HMMSmart_SM00188,PatternScan_INTERLEUKIN_10 - no_errors FN1 2335 genome.wustl.edu 36 2 215997161 215997161 + Missense_Mutation SNP G G A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 215997161 215997161 G A SNP FN1 NM_212482 human genbank 54_36p -1 reviewed missense c.1169 p.S390L 1.000 superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1 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 SPATA17 128153 genome.wustl.edu 36 1 216022144 216022144 + Silent SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 216022144 216022144 C A SNP SPATA17 NM_138796 human genbank 54_36p +1 provisional silent c.729 p.P243 0.998 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015,HMMPfam_IQ - no_errors SLC11A1 6556 genome.wustl.edu 36 2 218967977 218967977 + Missense_Mutation SNP A A T novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 218967977 218967977 A T SNP SLC11A1 NM_000578 human genbank 54_36p +1 reviewed missense c.1628 p.D543V 0.000 NULL HMMPfam_Nramp - no_errors TP53BP2 7159 genome.wustl.edu 36 1 222057144 222057144 + Missense_Mutation SNP T T C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 222057144 222057144 T C SNP TP53BP2 NM_001031685 human genbank 54_36p -1 reviewed missense c.908 p.E303G 1.000 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors MFF 56947 genome.wustl.edu 36 2 227925488 227925488 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 227925488 227925488 G C SNP MFF NM_020194 human genbank 54_36p +1 provisional missense c.767 p.G256A 1.000 HMMPfam_DUF800 HMMPfam_DUF800 - no_errors PGBD5 79605 genome.wustl.edu 36 1 228539599 228539599 + Missense_Mutation SNP T T A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 228539599 228539599 T A SNP PGBD5 NM_024554 human genbank 54_36p -1 reviewed missense c.1043 p.K348M 1.000 NULL NULL - no_errors DGKD 8527 genome.wustl.edu 36 2 234031727 234031727 + Missense_Mutation SNP G G C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 234031727 234031727 G C SNP DGKD NM_152879 human genbank 54_36p +1 reviewed missense c.2639 p.S880T 1.000 HMMPfam_DAGK_acc,HMMSmart_SM00045 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2 - no_errors GPC1 2817 genome.wustl.edu 36 2 241051577 241051577 + Silent SNP G C C novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 2 241051577 241051577 G C SNP GPC1 NM_002081 human genbank 54_36p +1 reviewed silent c.858 p.L286 1.000 HMMPfam_Glypican HMMPfam_Glypican,PatternScan_GLYPICAN - no_errors HNRNPU 3192 genome.wustl.edu 36 1 243085413 243085413 + Missense_Mutation SNP C C A novel unknown TCGA-23-2649-01A-01D-1526-09 TCGA-23-2649-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ec4811e0-474e-424b-80a2-6ff67942d858 f9d52994-6177-4fed-9b86-d69514e13741 1 243085413 243085413 C A SNP HNRNPU NM_031844 human genbank 54_36p -1 reviewed missense c.2288 p.G763V 1.000 NULL superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,HMMSmart_SM00449,HMMPfam_SPRY,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors