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 SRL 6345 broad.mit.edu 37 16 4242361 4242361 + Silent SNP G G A TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr16:4242361G>A ENST00000399609.3 - 6 1227 c.1215C>T c.(1213-1215)ttC>ttT p.F405F SRL_ENST00000537996.1_Silent_p.F363F NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 864 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GATTGATGCCGAAGAAGTCCT 0.493000 25 39 0 0 0.654019 0 0 PLXNA1 5361 broad.mit.edu 37 3 126732904 126732904 + Missense_Mutation SNP C C G TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr3:126732904C>G ENST00000251772.4 + 10 2355 c.2286C>G c.(2284-2286)aaC>aaG p.N762K PLXNA1_ENST00000393409.2_Missense_Mutation_p.N785K Q9UIW2 PLXA1_HUMAN plexin A1 785 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TGCCAGTGAACCTGTCAGTCG 0.632000 24 101 0 0 0.693898 0 0 INTS1 26173 broad.mit.edu 37 7 1538970 1538970 + Nonsense_Mutation SNP C C A TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr7:1538970C>A ENST00000389470.4 - 8 1254 c.1255G>T c.(1255-1257)Gag>Tag p.E419* INTS1_ENST00000404767.3_Nonsense_Mutation_p.E291* Q8N201 INT1_HUMAN integrator complex subunit 1 291 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TCCTCCTCCTCCGTGAGGGAG 0.697000 5 88 3.59834e-05 4.39797e-05 0.217242 1 0 MUC5AC 4586 broad.mit.edu 37 11 1161875 1161875 + Missense_Mutation SNP C C G TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr11:1161875C>G ENST00000356191.2 + 18 1546 c.1546C>G c.(1546-1548)Ccc>Gcc p.P516A mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CACCCAGCTGCCCATCTCTGC 0.642000 3 17 0 0 0.115264 0 0 MET 0 broad.mit.edu 37 7 116381017 116381017 + Nonsense_Mutation SNP C C T TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr7:116381017C>T ENST00000397752.3 + 5 1839 c.1639C>T c.(1639-1641)Cga>Tga p.R547* MET_ENST00000318493.6_Nonsense_Mutation_p.R547*|MET_ENST00000436117.2_Nonsense_Mutation_p.R547*|MET_ENST00000495962.1_3'UTR NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 547 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CAAATGTGTGCGATCGGAGGA 0.512000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 20 78 0 0 0.608945 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350799 134350799 + Missense_Mutation SNP C C G TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr6:134350799C>G ENST00000275230.5 - 2 319 c.164G>C c.(163-165)gGt>gCt p.G55A NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 55 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) AAGTTCATAACCCACCAGGAG 0.517000 6 32 0 0 0.217242 0 0 RBM41 55285 broad.mit.edu 37 X 106310757 106310757 + Nonstop_Mutation SNP C C A TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chrX:106310757C>A ENST00000372479.3 - 7 1272 c.1242G>T c.(1240-1242)taG>taT p.*414Y RBM41_ENST00000372487.1_Intron NM_018301.3 NP_060771.3 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 0 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 TATATATATTCTAGCTACCAC 0.378000 41 143 9.85913e-13 1.25135e-12 0.847076 1 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 16 0 0 0.150653 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G C rs121913499 TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr2:209113113G>C ENST00000415913.1 - 4 775 c.394C>G c.(394-396)Cgt>Ggt p.R132G IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 17 41 0 0 0.539581 0 0 ATRX 546 broad.mit.edu 37 X 76849221 76849221 + Missense_Mutation SNP T T C TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chrX:76849221T>C ENST00000373344.5 - 26 6269 c.6055A>G c.(6055-6057)Aaa>Gaa p.K2019E ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2019 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) AGTACCATTTTCCCAGAATGC 0.363000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 19 52 0 0 0.608945 0 0 BRSK2 9024 broad.mit.edu 37 11 1477653 1477653 + Missense_Mutation SNP G G A TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr11:1477653G>A ENST00000308219.9 + 17 2130 c.1744G>A c.(1744-1746)Gtg>Atg p.V582M BRSK2_ENST00000382179.1_Missense_Mutation_p.V628M|BRSK2_ENST00000526678.1_Missense_Mutation_p.V604M|BRSK2_ENST00000308230.5_Missense_Mutation_p.V604M|BRSK2_ENST00000544817.1_Missense_Mutation_p.V277M|BRSK2_ENST00000528710.1_Missense_Mutation_p.V522M|BRSK2_ENST00000528841.1_Missense_Mutation_p.V582M|BRSK2_ENST00000531197.1_Missense_Mutation_p.V582M NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 582 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GGGGCCAGCCGTGTTCCAGAA 0.612000 9 11 0 0 0.307466 0 0 AKR1B15 441282 broad.mit.edu 37 7 134256364 134256364 + Missense_Mutation SNP T T A TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr7:134256364T>A ENST00000457545.2 + 6 704 c.444T>A c.(442-444)gaT>gaA p.D148E AKR1B15_ENST00000423958.1_Missense_Mutation_p.D120E NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 148 oxidoreductase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 AGACTGGGGATGACTTTTTCC 0.423000 13 61 0 0 0.411799 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron 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) 8 19 0 0 0.278610 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12908011 12908011 + Silent SNP C C T TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr1:12908011C>T ENST00000317869.6 - 2 357 c.132G>A c.(130-132)gcG>gcA p.A44A NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 p.A44A(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 CAGAGCAGCCCGCAATTTTGC 0.478000 15 130 0 0 0.500413 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62611243 62611243 + Missense_Mutation SNP G G A TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr6:62611243G>A ENST00000281156.4 - 5 795 c.517C>T c.(517-519)Cgt>Tgt p.R173C NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GATAATTCACGTAGTTGTTCC 0.418000 17 24 0 0 0.557998 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316584 30316584 + Missense_Mutation SNP C C G TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr10:30316584C>G ENST00000375377.1 - 3 2594 c.2493G>C c.(2491-2493)ttG>ttC p.L831F NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 831 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTGACTGATCAAATCCCAGG 0.557000 14 93 0 0 0.479597 0 0 DPPA4 55211 broad.mit.edu 37 3 109049418 109049418 + Missense_Mutation SNP G G C TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr3:109049418G>C ENST00000335658.6 - 5 686 c.632C>G c.(631-633)gCc>gGc p.A211G DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 211 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CCTCGCCCTGGCTGAAATTCT 0.522000 5 53 0 0 0.184627 0 0 CSNK2A1 1457 broad.mit.edu 37 20 464702 464702 + Missense_Mutation SNP G G A rs61747403 TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr20:464702G>A ENST00000217244.3 - 14 1454 c.1079C>T c.(1078-1080)aCc>aTc p.T360I CSNK2A1_ENST00000400217.1_Missense_Mutation_p.T224I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.T360I|CSNK2A1_ENST00000400227.3_Intron NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 360 axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) GGGTGAAGGGGTTGGCACTGA 0.547000 3 14 0 0 0.115264 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255483 85255483 + Silent SNP A A G TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr12:85255483A>G ENST00000266682.5 - 12 2662 c.2121T>C c.(2119-2121)gcT>gcC p.A707A SLC6A15_ENST00000309283.7_3'UTR|SLC6A15_ENST00000552192.1_Silent_p.A600A NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 707 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 GTCCATTGGGAGCAGTATCCA 0.423000 9 118 0 0 0.307466 0 0 VPS41 27072 broad.mit.edu 37 7 38796519 38796519 + Silent SNP G G A rs146405914 TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr7:38796519G>A ENST00000310301.4 - 19 1668 c.1614C>T c.(1612-1614)gaC>gaT p.D538D VPS41_ENST00000395969.2_Silent_p.D513D NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 538 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 ACTGAAAAACGTCTTTATGTC 0.284000 9 20 0 0 0.335167 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026421 129026421 + Missense_Mutation SNP A A G TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr2:129026421A>G ENST00000259241.6 - 2 564 c.551T>C c.(550-552)cTa>cCa p.L184P NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 184 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGGGTCTCGTAGCAGGGTGAT 0.622000 3 36 0 0 0.150653 0 0 TP53 7157 broad.mit.edu 37 17 7578475 7578475 + Missense_Mutation SNP G G A rs137852790 TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr17:7578475G>A ENST00000420246.2 - 5 587 c.455C>T c.(454-456)cCg>cTg p.P152L TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L|TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 152 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). 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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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) GGTGCCGGGCGGGGGTGTGGA 0.612000 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) 16 27 0 0 0.500413 0 0 PRDM14 63978 broad.mit.edu 37 8 70981760 70981760 + Silent SNP C C T TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr8:70981760C>T ENST00000276594.2 - 2 537 c.336G>A c.(334-336)ccG>ccA p.P112P NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TCAGGAAGGGCGGCACTTCCC 0.632000 8 19 0 0 0.278610 0 0 FAM74A3 0 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 3 6 --- --- --- --- WHAMMP3 0 broad.mit.edu 37 15 23194730 23194730 + RNA DEL A A - TCGA-HT-7482-01A-11D-2024-08 TCGA-HT-7482-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 020cf1f1-cb63-4fe4-ac2f-ed85153dba6b a9c741fd-ede2-4d99-8145-f2e1020b12d9 g.chr15:23194730delA ENST00000400153.2 - 0 1758 NR_003521.1 CTCTGGAGAGAAGCTCTTTTG 0.448 2 4 --- --- --- ---