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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CLRN3 119467 broad.mit.edu 37 10 129676535 129676535 + Missense_Mutation SNP C C T TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr10:129676535C>T ENST00000368671.3 - 3 721 c.559G>A c.(559-561)Gtc>Atc p.V187I NM_152311.3 NP_689524.1 Q8NCR9 CLRN3_HUMAN clarin 3 187 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) AGAAGAATGACGAGCAGTATG 0.468000 52 97 0 0 1 0 0 LINC00886 0 broad.mit.edu 37 3 156528265 156528265 + RNA SNP C C T rs10936037 by1000genomes TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr3:156528265C>T ENST00000472943.1 - 0 148 NR_038387.1 AAGTGACATACACAGTTATTT 0.403000 11 113 0 0 1 0 0 SSX5 6758 broad.mit.edu 37 X 48053571 48053571 + Missense_Mutation SNP T T A TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chrX:48053571T>A ENST00000311798.1 - 5 449 c.397A>T c.(397-399)Aat>Tat p.N133Y SSX5_ENST00000376923.1_Missense_Mutation_p.N92Y|SSX5_ENST00000347757.1_Missense_Mutation_p.N92Y NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 TCACCCTGATTCCCACGGTTA 0.507000 20 89 0 0 1 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24234628 24234628 + Splice_Site SNP C C T rs138676880 byFrequency TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr13:24234628C>T ENST00000382263.3 + 7 919 c.736_splice c.e7+1 p.C245_splice TNFRSF19_ENST00000248484.4_Splice_Site_p.C245_splice|TNFRSF19_ENST00000403372.2_Splice_Site_p.C113_splice|TNFRSF19_ENST00000382258.4_Splice_Site_p.C245_splice NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 245 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TGCAGACCTGCGGTAAGTTCA 0.557000 5 20 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20432615 20432615 + Missense_Mutation SNP A A G TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr16:20432615A>G ENST00000331849.4 + 5 806 c.659A>G c.(658-660)aAg>aGg p.K220R NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 220 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 ATGAGGACAAAGAGTCGAGAC 0.522000 17 25 0 0 1 0 0 HKR1 284459 broad.mit.edu 37 19 37835619 37835619 + Silent SNP C C G TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr19:37835619C>G ENST00000324411.4 + 3 302 c.33C>G c.(31-33)ctC>ctG p.L11L HKR1_ENST00000591417.1_Intron|HKR1_ENST00000591471.1_Intron|HKR1_ENST00000591259.1_Intron|HKR1_ENST00000592168.1_Intron|HKR1_ENST00000392153.3_Intron|HKR1_ENST00000589392.1_Intron|HKR1_ENST00000544914.1_Intron NM_181786.2 NP_861451.1 P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 11 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTACAATGCTCCCTACATGCA 0.443000 12 77 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57075470 57075470 + Missense_Mutation SNP G G A rs148873682 byFrequency TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr16:57075470G>A ENST00000436936.1 + 18 3238 c.3013G>A c.(3013-3015)Ggt>Agt p.G1005S NLRC5_ENST00000308149.7_Missense_Mutation_p.G1005S|NLRC5_ENST00000262510.6_Missense_Mutation_p.G1005S|NLRC5_ENST00000539144.1_Missense_Mutation_p.G1005S Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1005 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding p.G1005S(1) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CTGCCACCTCGGTCACCTCCA 0.532000 7 23 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 23 42 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 23 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498807 179498807 + Missense_Mutation SNP A A T TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr2:179498807A>T ENST00000589042.1 - 231 42643 c.42419T>A c.(42418-42420)aTa>aAa p.I14140K TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I5075K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I12499K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5200K|TTN_ENST00000342992.6_Missense_Mutation_p.I11572K|TTN_ENST00000342175.6_Missense_Mutation_p.I5267K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12499 Fibronectin type-III 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCAGTCTTATACCTGAAAT 0.368000 10 45 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46479431 46479431 + Splice_Site SNP G G A rs137886255 TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr3:46479431G>A ENST00000231751.4 - 16 2393 c.2098_splice c.e16+1 p.P700_splice LTF_ENST00000426532.2_Splice_Site_p.P656_splice|LTF_ENST00000417439.1_Splice_Site_p.P698_splice NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 700 cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity p.P700T(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GTCTACTTACGGGAGGTTGAG 0.458000 15 163 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118242329 118242329 + Missense_Mutation SNP C C A TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chrX:118242329C>A ENST00000402510.2 - 6 882 c.883G>T c.(883-885)Gtc>Ttc p.V295F NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 295 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 GCAACCCAGACTGCACTTGTA 0.483000 40 77 6.99958e-10 7.33289e-10 1 1 0 CDC42EP3 10602 broad.mit.edu 37 2 37873158 37873158 + Missense_Mutation SNP G G T TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr2:37873158G>T ENST00000295324.3 - 2 1573 c.573C>A c.(571-573)agC>agA p.S191R AC006369.2_ENST00000419425.1_RNA NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3 NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2 Q9UKI2 BORG2_HUMAN CDC42 effector protein (Rho GTPase binding) 3 191 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) GTTCGGACAGGCTGGAGGAGT 0.592000 14 43 3.27435e-08 3.27435e-08 1 1 0 VWA2 340706 broad.mit.edu 37 10 116032596 116032596 + Missense_Mutation SNP G G A TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr10:116032596G>A ENST00000603594.1 + 6 790 c.469G>A c.(469-471)Gtc>Atc p.V157I VWA2_ENST00000392982.3_Missense_Mutation_p.V157I NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 157 VWFA 1. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) CCTCATCATCGTCACTGATGG 0.567000 9 43 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192234306 192234306 + Nonsense_Mutation SNP C C G TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr2:192234306C>G ENST00000392318.3 + 12 1318 c.1071C>G c.(1069-1071)taC>taG p.Y357* MYO1B_ENST00000304164.4_Nonsense_Mutation_p.Y357*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.Y357*|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.Y357* NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 357 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) AAAACCTCTACAGCAGGTTGT 0.328000 11 36 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 5 5 --- --- --- --- LIPE 3991 broad.mit.edu 37 19 42906913 42906914 + Frame_Shift_Ins INS - - G rs7246232 byFrequency TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chr19:42906913_42906914insG ENST00000244289.4 - 9 3088_3089 c.2812_2813insC c.(2812-2814)tgcfs p.C938fs LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 938 R -> S (in dbSNP:rs7246232). cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) GAAGGCGGCACGGACGCCCAGG 0.604 11 19 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938832 76938832 + Frame_Shift_Del DEL A A - TCGA-HW-7493-01A-11D-2024-08 TCGA-HW-7493-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ba86094-5899-4172-95cc-c51fab21be88 dbbd04e5-3bdb-49af-9abe-b0053be4cf0b g.chrX:76938832delA ENST00000373344.5 - 9 2130 c.1916delT c.(1915-1917)tgfs p.L639fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.L601fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 639 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATTTTCAACCAAATGCTCATT 0.413 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 129 250 --- --- --- ---