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 6976 6976 + Silent SNP T C C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b MT 6976 6976 T C SNP MT-CO1 ENST00000361624 human ensembl 54_36p +1 known silent c.1072 p.L358 NULL superfamily_Cytochrome c oxidase subunit I-like,HMMPfam_COX1 superfamily_Cytochrome c oxidase subunit I-like,HMMPfam_COX1,PatternScan_COX1_CUB - no_stop_codon MT-CYB 4519 genome.wustl.edu 36 MT 15636 15636 + Missense_Mutation SNP T C C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b MT 15636 15636 T C SNP MT-CYB ENST00000361789 human ensembl 54_36p +1 known missense c.889 p.S297P NULL HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C 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 ENSG00000205653 0 genome.wustl.edu 36 6 148509 148509 + Missense_Mutation SNP G T T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 6 148509 148509 G T SNP ENSG00000205653 ENST00000381078 human ensembl 54_36p +1 known missense c.77 p.C26F 0.002 NULL NULL - no_errors AXIN1 8312 genome.wustl.edu 36 16 283717 283717 + Missense_Mutation SNP G G C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 16 283717 283717 G C SNP AXIN1 NM_003502 human genbank 54_36p -1 reviewed missense c.1958 p.S653C 0.993 NULL superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315,HMMPfam_Axin_b-cat_bind,HMMPfam_DIX,HMMSmart_SM00021 - no_errors C20orf54 113278 genome.wustl.edu 36 20 690441 690441 + Silent SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 20 690441 690441 G A SNP C20orf54 NM_033409 human genbank 54_36p -1 validated silent c.1101 p.S367 0.000 HMMPfam_DUF1011 HMMPfam_DUF1011 - no_errors PALM 5064 genome.wustl.edu 36 19 697346 697346 + Silent SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 19 697346 697346 G A SNP PALM NM_002579 human genbank 54_36p +1 reviewed silent c.696 p.V232 0.982 HMMPfam_Paralemmin HMMPfam_Paralemmin - no_errors LOC100128838 0 genome.wustl.edu 36 1 845905 845905 + Missense_Mutation SNP C T T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 1 845905 845905 C T SNP LOC100128838 XM_001724524 human genbank 54_36p -1 model missense c.275 p.R92H 0.000 NULL PatternScan_ASP_PROTEASE - no_errors SCNN1D 6339 genome.wustl.edu 36 1 1215537 1215537 + Silent SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 1 1215537 1215537 G A SNP SCNN1D NM_002978 human genbank 54_36p +1 validated silent c.1194 p.Q398 0.939 HMMPfam_ASC,PatternScan_ASC HMMPfam_ASC,PatternScan_ASC - no_errors PANK4 55229 genome.wustl.edu 36 1 2434194 2434194 + Missense_Mutation SNP C T T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 1 2434194 2434194 C T SNP PANK4 NM_018216 human genbank 54_36p -1 reviewed missense c.1720 p.V574M 1.000 superfamily_Hypothetical protein At2g17340,HMMPfam_DUF89 HMMPfam_Fumble,superfamily_Hypothetical protein At2g17340,HMMPfam_DUF89 - no_errors MEFV 4210 genome.wustl.edu 36 16 3234555 3234555 + Missense_Mutation SNP T T C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 16 3234555 3234555 T C SNP MEFV NM_000243 human genbank 54_36p -1 reviewed missense c.1645 p.T549A 0.000 NULL superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors CORO7 79585 genome.wustl.edu 36 16 4354871 4354871 + Missense_Mutation SNP C C G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 16 4354871 4354871 C G SNP CORO7 NM_024535 human genbank 54_36p -1 validated missense c.950 p.R317P 0.998 HMMPfam_DUF1900 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_DUF1900,PatternScan_WD_REPEATS_1 - no_errors FBXO18 84893 genome.wustl.edu 36 10 5988413 5988413 + Missense_Mutation SNP C C G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 10 5988413 5988413 C G SNP FBXO18 NM_032807 human genbank 54_36p +1 reviewed missense c.718 p.P240A 0.683 NULL superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52540 - no_errors THUMPD3 25917 genome.wustl.edu 36 3 9391212 9391212 + Missense_Mutation SNP A A T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 3 9391212 9391212 A T SNP THUMPD3 NM_015453 human genbank 54_36p +1 validated missense c.820 p.I274F 1.000 HMMPfam_THUMP HMMPfam_THUMP,HMMPfam_UPF0020,superfamily_SSF53335,PatternScan_UPF0020 - no_errors MYH4 4622 genome.wustl.edu 36 17 10304267 10304267 + Missense_Mutation SNP G G T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 17 10304267 10304267 G T SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.1244 p.T415N 1.000 superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_Myosin_tail_1 - no_errors ZNF440 126070 genome.wustl.edu 36 19 11804370 11804370 + Missense_Mutation SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 19 11804370 11804370 G A SNP ZNF440 NM_152357 human genbank 54_36p +1 validated missense c.1379 p.C460Y 0.098 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TLR8 51311 genome.wustl.edu 36 X 12848890 12848890 + Missense_Mutation SNP A A T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b X 12848890 12848890 A T SNP TLR8 NM_138636 human genbank 54_36p +1 reviewed missense c.1810 p.N604Y 0.000 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52047,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_TIR,HMMPfam_TIR - no_errors ENSG00000186543 0 genome.wustl.edu 36 1 16832423 16832423 + Silent SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 1 16832423 16832423 G A SNP ENSG00000186543 ENST00000362058 human ensembl 54_36p -1 known silent c.30 p.P10 0.988 NULL NULL - no_errors ANO8 57719 genome.wustl.edu 36 19 17296753 17296753 + Missense_Mutation SNP G G T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 19 17296753 17296753 G T SNP ANO8 NM_020959 human genbank 54_36p -1 provisional missense c.3104 p.T1035N 0.998 NULL HMMPfam_DUF590 - no_errors SH3KBP1 30011 genome.wustl.edu 36 X 19516577 19516577 + Missense_Mutation SNP C C T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b X 19516577 19516577 C T SNP SH3KBP1 ENST00000379697 human ensembl 54_36p -1 known missense c.1535 p.G512E 0.000 NULL superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors STK31 56164 genome.wustl.edu 36 7 23760553 23760553 + Nonsense_Mutation SNP G G T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 7 23760553 23760553 G T SNP STK31 NM_031414 human genbank 54_36p +1 reviewed nonsense c.1228 p.G410* 0.989 NULL HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) - no_errors KIAA1012 22878 genome.wustl.edu 36 18 27751611 27751611 + Nonsense_Mutation SNP C C A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 18 27751611 27751611 C A SNP KIAA1012 NM_014939 human genbank 54_36p -1 validated nonsense c.370 p.E124* 1.000 NULL superfamily_TPR-like - no_errors NOTCH4 4855 genome.wustl.edu 36 6 32296166 32296166 + Missense_Mutation SNP G G C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 6 32296166 32296166 G C SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed missense c.1153 p.R385G 0.998 superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_1 HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00004,HMMPfam_Notch,superfamily_Notch domain,HMMPfam_NODP,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248 - no_errors LOC644390 644390 genome.wustl.edu 36 15 32569350 32569350 + RNA SNP T T C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 15 32569350 32569350 T C SNP LOC644390 XR_016623 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TULP1 7287 genome.wustl.edu 36 6 35587526 35587526 + Missense_Mutation SNP G G C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 6 35587526 35587526 G C SNP TULP1 NM_003322 human genbank 54_36p -1 reviewed missense c.226 p.P76A 0.001 NULL superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub,PatternScan_TUB_1,PatternScan_TUB_2 - no_errors KRT28 162605 genome.wustl.edu 36 17 36209298 36209298 + Missense_Mutation SNP T T C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 17 36209298 36209298 T C SNP KRT28 NM_181535 human genbank 54_36p -1 validated missense c.374 p.Y125C 0.953 HMMPfam_Filament HMMPfam_Filament - no_errors EIF3EIP 51386 genome.wustl.edu 36 22 36575326 36575326 + Missense_Mutation SNP C C A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 22 36575326 36575326 C A SNP EIF3EIP ENST00000262832 human ensembl 54_36p +1 known missense c.53 p.A18D 0.000 NULL HMMPfam_Paf67 - no_errors PAX5 5079 genome.wustl.edu 36 9 36996474 36996474 + Missense_Mutation SNP G G C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 9 36996474 36996474 G C SNP PAX5 NM_016734 human genbank 54_36p -1 reviewed missense c.471 p.S157R 1.000 NULL HMMPfam_PAX,HMMSmart_SM00351,superfamily_Homeodomain-like,PatternScan_PAIRED_1 - no_errors L3MBTL 26013 genome.wustl.edu 36 20 41576826 41576826 + Silent SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 20 41576826 41576826 G A SNP L3MBTL NM_015478 human genbank 54_36p +1 reviewed silent c.228 p.Q76 0.001 NULL superfamily_Tudor/PWWP/MBT,HMMSmart_SM00561,HMMPfam_MBT,superfamily_CCHHC domain,HMMPfam_zf-C2HC - no_errors SPTBN4 57731 genome.wustl.edu 36 19 45773286 45773286 + Missense_Mutation SNP G G T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 19 45773286 45773286 G T SNP SPTBN4 NM_020971 human genbank 54_36p +1 reviewed missense c.7666 p.D2556Y 0.999 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors EPAS1 2034 genome.wustl.edu 36 2 46462273 46462273 + Missense_Mutation SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 2 46462273 46462273 G A SNP EPAS1 NM_001430 human genbank 54_36p +1 validated missense c.2080 p.V694M 0.034 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC,HMMPfam_HIF-1a_CTAD - no_errors SYN1 6853 genome.wustl.edu 36 X 47318393 47318393 + Missense_Mutation SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b X 47318393 47318393 G A SNP SYN1 NM_006950 human genbank 54_36p -1 reviewed missense c.1934 p.P645L 0.985 NULL HMMPfam_Synapsin_N,PatternScan_SYNAPSIN_1,HMMPfam_Synapsin,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_Synapsin_C,PatternScan_SYNAPSIN_2 - no_errors CORIN 10699 genome.wustl.edu 36 4 47374715 47374715 + Missense_Mutation SNP C C G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 4 47374715 47374715 C G SNP CORIN NM_006587 human genbank 54_36p -1 reviewed missense c.1246 p.V416L 0.356 HMMSmart_SM00192,superfamily_LDL receptor-like module HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_SRCR-like,HMMSmart_SM00202,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_SRCR_1,PatternScan_TRYPSIN_SER - no_errors FTSJ1 24140 genome.wustl.edu 36 X 48225817 48225817 + Silent SNP G G T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b X 48225817 48225817 G T SNP FTSJ1 NM_012280 human genbank 54_36p +1 reviewed silent c.738 p.S246 0.923 NULL superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_FtsJ - no_errors PCDH15 65217 genome.wustl.edu 36 10 55519755 55519755 + Silent SNP T T A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 10 55519755 55519755 T A SNP PCDH15 NM_033056 human genbank 54_36p -1 reviewed silent c.1992 p.S664 1.000 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like,HMMPfam_Cadherin - no_errors C8A 731 genome.wustl.edu 36 1 57124400 57124400 + Silent SNP G G C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 1 57124400 57124400 G C SNP C8A NM_000562 human genbank 54_36p +1 reviewed silent c.1068 p.V356 0.915 HMMPfam_MACPF,HMMSmart_MACPF PatternScan_EGF_2,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMPfam_MACPF,HMMSmart_MACPF,PatternScan_MAC_PERFORIN,superfamily_SSF57196,PatternScan_EGF_1 - no_errors KANK4 163782 genome.wustl.edu 36 1 62512158 62512158 + Silent SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 1 62512158 62512158 G A SNP KANK4 NM_181712 human genbank 54_36p -1 validated silent c.1206 p.N402 0.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors ZNF735 728898 genome.wustl.edu 36 7 63104041 63104041 + Missense_Mutation SNP T T G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 7 63104041 63104041 T G SNP ZNF735 ENST00000398732 human ensembl 54_36p +1 known missense c.168 p.I56M 0.762 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_stop_codon STARD8 9754 genome.wustl.edu 36 X 67860394 67860394 + Missense_Mutation SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b X 67860394 67860394 G A SNP STARD8 NM_014725 human genbank 54_36p +1 validated missense c.2761 p.D921N 0.990 superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234 superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234 - no_errors ZFHX3 463 genome.wustl.edu 36 16 71379929 71379929 + Silent SNP C C A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 16 71379929 71379929 C A SNP ZFHX3 NM_006885 human genbank 54_36p -1 validated silent c.9747 p.G3249 1.000 NULL 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 KIAA1618 57714 genome.wustl.edu 36 17 75880020 75880020 + Splice_Site SNP A G G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 17 75880020 75880020 A G SNP KIAA1618 NM_020954 human genbank 54_36p +1 validated splice_site c.1272-2 e7-2 0.101 - - - no_errors SLC16A3 9123 genome.wustl.edu 36 17 77787324 77787324 + Missense_Mutation SNP C C G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 17 77787324 77787324 C G SNP SLC16A3 NM_001042422 human genbank 54_36p +1 validated missense c.151 p.Q51E 0.983 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors MYF6 4618 genome.wustl.edu 36 12 79625866 79625866 + Silent SNP C C T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 12 79625866 79625866 C T SNP MYF6 NM_002469 human genbank 54_36p +1 provisional silent c.237 p.I79 1.000 HMMPfam_Basic,HMMSmart_SM00520 HMMPfam_Basic,HMMSmart_SM00520,superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353 - no_errors C6orf168 84553 genome.wustl.edu 36 6 99903721 99903721 + Missense_Mutation SNP G G C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 6 99903721 99903721 G C SNP C6orf168 NM_032511 human genbank 54_36p -1 validated missense c.249 p.H83Q 1.000 NULL superfamily_Thioredoxin-like,HMMPfam_Tom37,superfamily_Glutathione S-transferase (GST) C-terminal domain - no_errors SLCO6A1 133482 genome.wustl.edu 36 5 101783471 101783471 + Missense_Mutation SNP C C G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 5 101783471 101783471 C G SNP SLCO6A1 NM_173488 human genbank 54_36p -1 validated missense c.1430 p.C477S 0.006 HMMPfam_OATP,superfamily_MFS general substrate transporter HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2 - no_errors CASP4 837 genome.wustl.edu 36 11 104324552 104324552 + Silent SNP C C T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 11 104324552 104324552 C T SNP CASP4 NM_001225 human genbank 54_36p -1 reviewed silent c.843 p.Q281 0.000 superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14 HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS - no_errors RGPD3 653489 genome.wustl.edu 36 2 106442176 106442176 + Silent SNP A A G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 2 106442176 106442176 A G SNP RGPD3 ENST00000304514 human ensembl 54_36p -1 known silent c.117 p.A39 0.999 superfamily_SSF48452 superfamily_SSF48452,HMMPfam_TPR_1,superfamily_SSF50729,HMMSmart_RanBD,HMMPfam_Ran_BP1,HMMPfam_GRIP,HMMSmart_Grip - no_errors MID2 11043 genome.wustl.edu 36 X 106984526 106984526 + Missense_Mutation SNP T T A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b X 106984526 106984526 T A SNP MID2 NM_012216 human genbank 54_36p +1 reviewed missense c.692 p.V231D 1.000 HMMSmart_SM00502 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_SM00336,HMMPfam_zf-B_box,superfamily_B-box zinc-binding domain,HMMSmart_SM00502,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors SOX1 6656 genome.wustl.edu 36 13 111770000 111770000 + Silent SNP C T T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 13 111770000 111770000 C T SNP SOX1 NM_005986 human genbank 54_36p +1 reviewed silent c.27 p.D9 1.000 NULL superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box - no_errors CD200 4345 genome.wustl.edu 36 3 113549298 113549298 + Missense_Mutation SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 3 113549298 113549298 G A SNP CD200 NM_001004196 human genbank 54_36p +1 reviewed missense c.700 p.G234R 0.961 superfamily_SSF48726,HMMPfam_ig superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig - no_errors C10orf118 55088 genome.wustl.edu 36 10 115886961 115886961 + Missense_Mutation SNP A A G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 10 115886961 115886961 A G SNP C10orf118 NM_018017 human genbank 54_36p -1 validated missense c.1300 p.C434R 1.000 NULL superfamily_Prefoldin - no_errors NKRF 55922 genome.wustl.edu 36 X 118607562 118607562 + Missense_Mutation SNP G G T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b X 118607562 118607562 G T SNP NKRF NM_017544 human genbank 54_36p -1 validated missense c.1854 p.S618R 1.000 HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00443,HMMPfam_G-patch,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H - no_errors CIT 11113 genome.wustl.edu 36 12 118679589 118679589 + Missense_Mutation SNP C C T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 12 118679589 118679589 C T SNP CIT NM_007174 human genbank 54_36p -1 validated missense c.2549 p.R850Q 0.997 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C,PatternScan_CPSASE_2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00036,HMMPfam_CNH - no_errors TRMT11 60487 genome.wustl.edu 36 6 126375627 126375627 + Nonsense_Mutation SNP G G T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 6 126375627 126375627 G T SNP TRMT11 NM_001031712 human genbank 54_36p +1 validated nonsense c.943 p.E315* 1.000 HMMPfam_UPF0020,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_UPF0020,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_N6_MTASE - no_errors SMO 6608 genome.wustl.edu 36 7 128633242 128633242 + Silent SNP G G T novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 7 128633242 128633242 G T SNP SMO NM_005631 human genbank 54_36p +1 provisional silent c.936 p.L312 1.000 HMMPfam_Frizzled HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,HMMPfam_Frizzled - no_errors ENOX2 10495 genome.wustl.edu 36 X 129650556 129650556 + Missense_Mutation SNP A A G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b X 129650556 129650556 A G SNP ENOX2 NM_182314 human genbank 54_36p -1 reviewed missense c.302 p.I101T 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors VAV2 7410 genome.wustl.edu 36 9 135629920 135629920 + Missense_Mutation SNP C C A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 9 135629920 135629920 C A SNP VAV2 NM_003371 human genbank 54_36p -1 reviewed missense c.2063 p.R688M 1.000 superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2 HMMPfam_CH,superfamily_Calponin-homology,HMMSmart_CH,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,superfamily_SSF57889,HMMPfam_C1_1,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,HMMPfam_SH3_1 - no_errors SF3B4 10262 genome.wustl.edu 36 1 148162183 148162183 + Missense_Mutation SNP C C G novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 1 148162183 148162183 C G SNP SF3B4 NM_005850 human genbank 54_36p -1 reviewed missense c.1150 p.G384R 1.000 NULL HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1 - no_errors TSC22D2 9819 genome.wustl.edu 36 3 151611282 151611282 + Missense_Mutation SNP G G C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 3 151611282 151611282 G C SNP TSC22D2 NM_014779 human genbank 54_36p +1 provisional missense c.1455 p.Q485H 1.000 NULL PatternScan_TSC22,HMMPfam_TSC22 - no_errors S100A7L2 645922 genome.wustl.edu 36 1 151676297 151676297 + Missense_Mutation SNP G G C novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 1 151676297 151676297 G C SNP S100A7L2 NM_001045479 human genbank 54_36p -1 validated missense c.167 p.S56C 0.006 superfamily_SSF47473 PatternScan_S100_CABP,superfamily_SSF47473,PatternScan_EF_HAND_1 - no_errors PALLD 23022 genome.wustl.edu 36 4 169669492 169669492 + Missense_Mutation SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 4 169669492 169669492 G A SNP PALLD NM_016081 human genbank 54_36p +1 validated missense c.262 p.E88K 0.002 NULL superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,PatternScan_DEHYDRATASE_SER_THR - no_errors TLR5 7100 genome.wustl.edu 36 1 221352657 221352657 + Missense_Mutation SNP C C A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 1 221352657 221352657 C A SNP TLR5 NM_003268 human genbank 54_36p -1 validated missense c.340 p.A114S 0.638 superfamily_SSF52058,HMMSmart_LRR_TYP superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR - no_errors ALPI 248 genome.wustl.edu 36 2 233032041 233032041 + Missense_Mutation SNP G G A novel unknown TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 66351632-e3d9-47dc-8545-6546d5679167 f717ca27-9130-4659-a79e-34732875288b 2 233032041 233032041 G A SNP ALPI NM_001631 human genbank 54_36p +1 reviewed missense c.1528 p.A510T 0.000 NULL superfamily_Alkaline phosphatase-like,HMMPfam_Alk_phosphatase,HMMSmart_SM00098,PatternScan_ALKALINE_PHOSPHATASE - no_errors