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 ENSG00000210176 0 genome.wustl.edu 36 MT 12184 12184 + RNA SNP G G A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 MT 12184 12184 G A SNP ENSG00000210176 ENST00000387441 human ensembl 54_36p +1 novel rna NULL NULL NULL - - - no_errors MT-ND5 4540 genome.wustl.edu 36 MT 13635 13635 + Missense_Mutation SNP G A A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 MT 13635 13635 G A SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known missense c.1298 p.G433D NULL HMMPfam_NADH5_C HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors DEFB125 245938 genome.wustl.edu 36 20 24821 24821 + Missense_Mutation SNP A A G novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 20 24821 24821 A G SNP DEFB125 NM_153325 human genbank 54_36p +1 reviewed missense c.234 p.I78M 0.000 NULL NULL - no_errors NEURL4 84461 genome.wustl.edu 36 17 7161537 7161537 + Missense_Mutation SNP G A A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 17 7161537 7161537 G A SNP NEURL4 NM_032442 human genbank 54_36p -1 validated missense c.4285 p.R1429W 1.000 NULL HMMPfam_Neuralized,HMMSmart_SM00588 - no_errors TP53 7157 genome.wustl.edu 36 17 7517849 7517849 + Missense_Mutation SNP C T T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 17 7517849 7517849 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.814 p.V272M 0.999 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 ADCY2 108 genome.wustl.edu 36 5 7780290 7780290 + Missense_Mutation SNP C C A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 5 7780290 7780290 C A SNP ADCY2 NM_020546 human genbank 54_36p +1 reviewed missense c.1787 p.A596E 0.979 HMMPfam_DUF1053 HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053 - no_errors ZNF627 199692 genome.wustl.edu 36 19 11589201 11589201 + Nonsense_Mutation SNP C C T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 19 11589201 11589201 C T SNP ZNF627 NM_145295 human genbank 54_36p +1 validated nonsense c.883 p.R295* 0.003 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors MTMR7 9108 genome.wustl.edu 36 8 17204144 17204144 + Missense_Mutation SNP A A T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 8 17204144 17204144 A T SNP MTMR7 NM_004686 human genbank 54_36p -1 reviewed missense c.1510 p.Y504N 1.000 superfamily_(Phosphotyrosine protein) phosphatases II superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors ENSG00000215604 0 genome.wustl.edu 36 13 17941911 17941911 + Missense_Mutation SNP C A A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 13 17941911 17941911 C A SNP ENSG00000215604 ENST00000342944 human ensembl 54_36p -1 known missense c.426 p.Q142H 0.740 superfamily_C2H2 and C2HC zinc fingers HMMPfam_KRAB,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_stop_codon GABPA 2551 genome.wustl.edu 36 21 26063278 26063278 + Missense_Mutation SNP G G A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 21 26063278 26063278 G A SNP GABPA NM_002040 human genbank 54_36p +1 validated missense c.1229 p.S410N 1.000 "superfamily_""Winged helix"" DNA-binding domain" "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2" - no_errors NF1 4763 genome.wustl.edu 36 17 26616395 26616395 + Nonsense_Mutation SNP G T T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 17 26616395 26616395 G T SNP NF1 NM_001042492 human genbank 54_36p +1 reviewed nonsense c.4747 p.E1583* 1.000 HMMSmart_SM00516 HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516 - no_errors PDZD2 23037 genome.wustl.edu 36 5 32123586 32123586 + Silent SNP G G A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 5 32123586 32123586 G A SNP PDZD2 NM_178140 human genbank 54_36p +1 reviewed silent c.4275 p.T1425 0.686 NULL superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ,PatternScan_PROTEIN_KINASE_ATP - no_errors BIRC6 57448 genome.wustl.edu 36 2 32493836 32493836 + Missense_Mutation SNP A A T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 2 32493836 32493836 A T SNP BIRC6 NM_016252 human genbank 54_36p +1 reviewed missense c.1973 p.H658L 1.000 NULL superfamily_Inhibitor of apoptosis (IAP) repeat,HMMSmart_SM00238,HMMPfam_BIR,superfamily_Galactose-binding domain-like,superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con - no_errors ZNF536 9745 genome.wustl.edu 36 19 35730732 35730732 + Missense_Mutation SNP C C T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 19 35730732 35730732 C T SNP ZNF536 NM_014717 human genbank 54_36p +1 provisional missense c.2366 p.T789M 1.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors CHD6 84181 genome.wustl.edu 36 20 39545386 39545386 + Silent SNP T T C novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 20 39545386 39545386 T C SNP CHD6 NM_032221 human genbank 54_36p -1 reviewed silent c.2445 p.L815 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490 superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592 - no_errors PTPRT 11122 genome.wustl.edu 36 20 40310740 40310740 + Splice_Site SNP C C T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 20 40310740 40310740 C T SNP PTPRT NM_133170 human genbank 54_36p -1 reviewed splice_site c.2369+1 e15+1 1.000 - - - no_errors DGKK 139189 genome.wustl.edu 36 X 50230125 50230125 + Missense_Mutation SNP G G A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 X 50230125 50230125 G A SNP DGKK ENST00000376025 human ensembl 54_36p -1 known missense c.293 p.A98V 0.171 NULL 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 - no_errors SPTBN1 6711 genome.wustl.edu 36 2 54710600 54710600 + Missense_Mutation SNP C C T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 2 54710600 54710600 C T SNP SPTBN1 NM_003128 human genbank 54_36p +1 reviewed missense c.2737 p.R913C 0.440 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 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 DHRS7 51635 genome.wustl.edu 36 14 59689618 59689618 + Missense_Mutation SNP G G A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 14 59689618 59689618 G A SNP DHRS7 NM_016029 human genbank 54_36p -1 validated missense c.425 p.S142F 0.084 superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT - no_errors ARID3B 10620 genome.wustl.edu 36 15 72670756 72670756 + Missense_Mutation SNP C C T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 15 72670756 72670756 C T SNP ARID3B NM_006465 human genbank 54_36p +1 reviewed missense c.1093 p.L365F 0.878 NULL superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501 - no_errors TNNI3K 51086 genome.wustl.edu 36 1 74607535 74607535 + Missense_Mutation SNP C C T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 1 74607535 74607535 C T SNP TNNI3K NM_015978 human genbank 54_36p +1 validated missense c.1471 p.R491C 1.000 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ATP - no_errors C1orf173 127254 genome.wustl.edu 36 1 74810030 74810030 + Missense_Mutation SNP C C G novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 1 74810030 74810030 C G SNP C1orf173 NM_001002912 human genbank 54_36p -1 predicted missense c.3952 p.G1318R 0.010 NULL NULL - no_errors GRIK2 2898 genome.wustl.edu 36 6 101953905 101953905 + Missense_Mutation SNP C C G novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 6 101953905 101953905 C G SNP GRIK2 NM_021956 human genbank 54_36p +1 reviewed missense c.31 p.P11A 1.000 NULL superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors SORCS1 114815 genome.wustl.edu 36 10 108579385 108579385 + Missense_Mutation SNP A A C novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 10 108579385 108579385 A C SNP SORCS1 NM_001013031 human genbank 54_36p -1 reviewed missense c.663 p.N221K 1.000 superfamily_SSF110296,HMMSmart_VPS10 superfamily_SSF110296,HMMSmart_VPS10,HMMSmart_PKD,superfamily_PKD,HMMPfam_PKD - no_errors SEMA5B 54437 genome.wustl.edu 36 3 124117143 124117143 + Silent SNP G G T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 3 124117143 124117143 G T SNP SEMA5B NM_001031702 human genbank 54_36p -1 validated silent c.1822 p.R608 0.006 superfamily_Plexin repeat,superfamily_TSP-1 type 1 repeat 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 IGSF9B 22997 genome.wustl.edu 36 11 133296301 133296301 + Silent SNP G G A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 11 133296301 133296301 G A SNP IGSF9B NM_014987 human genbank 54_36p -1 validated silent c.2529 p.A843 1.000 NULL superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_fn3 - no_errors DUX1 26584 genome.wustl.edu 36 10 135341050 135341050 + Missense_Mutation SNP T T G novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 10 135341050 135341050 T G SNP DUX1 NM_012146 human genbank 54_36p +1 provisional missense c.488 p.L163R 0.998 NULL superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox - no_stop_codon LOC729374 729374 genome.wustl.edu 36 1 149797021 149797021 + RNA SNP G G A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 1 149797021 149797021 G A SNP LOC729374 XR_015991 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene SH2D2A 9047 genome.wustl.edu 36 1 155045907 155045907 + Splice_Site SNP C C T novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 1 155045907 155045907 C T SNP SH2D2A NM_003975 human genbank 54_36p -1 provisional splice_site c.715-1 e7-1 0.002 - - - no_errors PIK3C2B 5287 genome.wustl.edu 36 1 202669599 202669599 + Missense_Mutation SNP T T C novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 1 202669599 202669599 T C SNP PIK3C2B NM_002646 human genbank 54_36p -1 reviewed missense c.3788 p.Q1263R 1.000 superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146 superfamily_Ubiquitin-like,HMMPfam_PI3K_rbd,HMMSmart_SM00144,HMMSmart_SM00142,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PI3K_C2,superfamily_ARM repeat,HMMSmart_SM00145,HMMPfam_PI3Ka,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00239,HMMPfam_C2 - no_errors IDH1 3417 genome.wustl.edu 36 2 208824508 208824508 + Missense_Mutation SNP T T C novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 2 208824508 208824508 T C SNP IDH1 NM_005896 human genbank 54_36p -1 reviewed missense c.13 p.I5V 1.000 superfamily_Isocitrate/Isopropylmalate dehydrogenase-like superfamily_Isocitrate/Isopropylmalate dehydrogenase-like,HMMPfam_Iso_dh,PatternScan_IDH_IMDH - no_errors IL8RA 3577 genome.wustl.edu 36 2 218737382 218737382 + Silent SNP G G A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 2 218737382 218737382 G A SNP IL8RA NM_000634 human genbank 54_36p -1 reviewed silent c.798 p.T266 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR2T6 254879 genome.wustl.edu 36 1 246617734 246617734 + Missense_Mutation SNP G G A novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 1 246617734 246617734 G A SNP OR2T6 NM_001005471 human genbank 54_36p +1 provisional missense c.202 p.V68I 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors GNRH2 2797 genome.wustl.edu 36 20 2974345 2974346 + Frame_Shift_Ins INS - - GCCCC novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 20 2974345 2974346 - GCCCC INS GNRH2 NM_001501 human genbank 54_36p +1 reviewed frame_shift_ins c.326_327 p.P113fs 0.000:0.001 NULL HMMPfam_GnRH,PatternScan_GNRH - no_errors ELF3 1999 genome.wustl.edu 36 1 200250988 200250999 + In_Frame_Del DEL CGGGTGGATGGC CGGGTGGATGGC - novel unknown TCGA-09-1670-01A-01W-0633-09 TCGA-09-1670-10A-01W-0633-09 CGGGTGGATGGC CGGGTGGATGGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ef89d6bf-9785-41e0-bb9f-511a74c1e98d b3416895-f1b5-4617-891b-8525835ed9f1 1 200250988 200250999 CGGGTGGATGGC - DEL ELF3 NM_004433 human genbank 54_36p +1 validated in_frame_del c.1030_1041 p.VDGR345in_frame_del 1.000:1.000:0.872:1.000:1.000:0.997:1.000:1.000:0.997:1.000:1.000:1.000 "superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413" "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413" (deletion:cds_exon[200250960,200251074]) no_errors