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 IGSF10 285313 broad.mit.edu 37 3 151164878 151164878 + Missense_Mutation SNP G G T TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr3:151164878G>T ENST00000282466.3 - 4 2890 c.2891C>A c.(2890-2892)cCc>cAc p.P964H NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 964 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTGTGCCTGGGTTCACTCAC 0.418000 8 169 0.000157383 0.000169808 1 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 4 45 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92600243 92600243 + Nonsense_Mutation SNP C C T TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr11:92600243C>T ENST00000298047.6 + 21 12012 c.11995C>T c.(11995-11997)Cag>Tag p.Q3999* FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q3999*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q3849*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.Q334* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3999 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCTGCCGCTGCAGAACAAGCG 0.637000 TCGA Ovarian(4;0.039) 6 5 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21392093 21392093 + Silent SNP T T C TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr12:21392093T>C ENST00000256958.2 + 15 2142 c.2046T>C c.(2044-2046)tcT>tcC p.S682S NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 682 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTGTCCCTTCTGCTGGGGCAG 0.343000 22 96 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66950067 66950067 + Missense_Mutation SNP G G A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr16:66950067G>A ENST00000299752.4 - 5 518 c.325C>T c.(325-327)Cca>Tca p.P109S CDH16_ENST00000394055.3_Missense_Mutation_p.P109S|CDH16_ENST00000570262.1_Missense_Mutation_p.P29S|CDH16_ENST00000565796.1_Missense_Mutation_p.P109S|CDH16_ENST00000568632.1_Missense_Mutation_p.P109S NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 109 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) ACAGGCTGTGGACCCCACAAG 0.612000 19 80 0 0 1 0 0 CD276 80381 broad.mit.edu 37 15 73992059 73992059 + Splice_Site SNP G G A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr15:73992059G>A ENST00000318443.5 + 2 381 c.79_splice c.e2+1 p.G27_splice CD276_ENST00000561213.1_Splice_Site_p.G27_splice|CD276_ENST00000537340.2_Intron|CD276_ENST00000564751.1_Splice_Site_p.G27_splice|CD276_ENST00000318424.5_Splice_Site_p.G27_splice NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule 27 cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 CTGCCTCACAGGTGAGGGTAG 0.662000 5 35 0 0 1 0 0 CPPED1 55313 broad.mit.edu 37 16 12798613 12798613 + Missense_Mutation SNP G G A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr16:12798613G>A ENST00000381774.4 - 3 823 c.583C>T c.(583-585)Cgg>Tgg p.R195W CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 195 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 TGGCAGTGCCGCTGCCTCGCG 0.602000 20 74 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18776969 18776969 + Silent SNP C C T TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr9:18776969C>T ENST00000380548.4 + 19 3081 c.2742C>T c.(2740-2742)gaC>gaT p.D914D NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 914 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GGGAGAAGGACGGCCAGCACC 0.677000 17 42 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 3 48 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168834410 168834410 + Missense_Mutation SNP G G A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr3:168834410G>A ENST00000464456.1 - 7 1886 c.686C>T c.(685-687)aCg>aTg p.T229M MECOM_ENST00000264674.3_Missense_Mutation_p.T294M|MECOM_ENST00000472280.1_Missense_Mutation_p.T230M|MECOM_ENST00000468789.1_Missense_Mutation_p.T229M|MECOM_ENST00000494292.1_Missense_Mutation_p.T417M|MECOM_ENST00000460814.1_Missense_Mutation_p.T229M|MECOM_ENST00000433243.2_Missense_Mutation_p.T230M|MECOM_ENST00000392736.3_Missense_Mutation_p.T229M NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity p.T229R(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TAAGGAAGACGTAGTGCTGAA 0.453000 16 125 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207890949 207890949 + Nonsense_Mutation SNP G G T TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr1:207890949G>T ENST00000508064.2 + 11 1615 c.1555G>T c.(1555-1557)Gag>Tag p.E519* NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 519 Sushi 8. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CCTCATTGGGGAGAGCACCAT 0.542000 9 165 1.76689e-08 2.06979e-08 1 1 0 CYP4F22 126410 broad.mit.edu 37 19 15648459 15648459 + Missense_Mutation SNP G G A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr19:15648459G>A ENST00000269703.2 + 6 734 c.535G>A c.(535-537)Gct>Act p.A179T CYP4F22_ENST00000601005.2_Missense_Mutation_p.A179T NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 179 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CAACCAGAGCGCTGACATTAT 0.547000 5 144 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 17 52 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_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) 16 12 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38098527 38098527 + Silent SNP G G A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr21:38098527G>A ENST00000290399.6 + 6 1264 c.651G>A c.(649-651)ctG>ctA p.L217L SIM2_ENST00000430056.3_Silent_p.L217L NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 217 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 GCCAGTCGCTGCCACCCAGTG 0.542000 26 61 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137708439 137708439 + Missense_Mutation SNP T T A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr5:137708439T>A ENST00000314358.5 + 2 469 c.269T>A c.(268-270)cTt>cAt p.L90H NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 90 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GTTATCGTGCTTCTGCTGGAA 0.507000 35 59 0 0 1 0 0 ANO6 196527 broad.mit.edu 37 12 45797221 45797221 + Splice_Site SNP G G T TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr12:45797221G>T ENST00000320560.8 + 15 1984 c.e15-1 ANO6_ENST00000426898.2_Splice_Site|ANO6_ENST00000441606.2_Splice_Site|ANO6_ENST00000435642.1_Splice_Site|ANO6_ENST00000425752.2_Splice_Site|ANO6_ENST00000423947.3_Splice_Site NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TAACCTTCTAGTGTGACCCAG 0.338000 8 93 0.0381472 0.0401035 1 1 0 C17orf103 256302 broad.mit.edu 37 17 21147493 21147493 + Missense_Mutation SNP G G A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr17:21147493G>A ENST00000399011.2 - 3 149 c.148C>T c.(148-150)Cgg>Tgg p.R50W C17orf103_ENST00000468196.1_Silent_p.S50S NM_152914.2 NP_690878.2 Q8N6N6 GTL3B_HUMAN chromosome 17 open reading frame 103 51 endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 TCCACGATCCGCTTGCCCACG 0.632000 3 37 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13231079 13231079 + Splice_Site SNP A A G TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr10:13231079A>G ENST00000378694.1 + 9 1489 c.1415_splice c.e9+1 p.I472_splice MCM10_ENST00000484800.2_Splice_Site_p.I473_splice|MCM10_ENST00000378714.3_Splice_Site_p.I472_splice Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 473 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 TGCAGCTTCAATGTAAGACGT 0.478000 11 68 0 0 1 0 0 FADS2 9415 broad.mit.edu 37 11 61630533 61630533 + Missense_Mutation SNP C C G TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr11:61630533C>G ENST00000278840.4 + 8 1602 c.972C>G c.(970-972)aaC>aaG p.N324K FADS2_ENST00000522056.1_Missense_Mutation_p.N293K|FADS2_ENST00000257261.6_Missense_Mutation_p.N302K|FADS2_ENST00000521849.1_Missense_Mutation_p.N324K NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 324 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) TTTTCCTCAACTTCATCAGGT 0.577000 4 79 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114912156 114912156 + Missense_Mutation SNP T T G TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr10:114912156T>G ENST00000545257.1 + 11 1733 c.1226T>G c.(1225-1227)cTt>cGt p.L409R TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000534894.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.L386R|TCF7L2_ENST00000355717.4_Missense_Mutation_p.L433R|TCF7L2_ENST00000369389.1_Missense_Mutation_p.L120R|TCF7L2_ENST00000355995.4_Missense_Mutation_p.L409R|TCF7L2_ENST00000352065.5_Missense_Mutation_p.L386R|TCF7L2_ENST00000543371.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000369386.1_Missense_Mutation_p.L52R|TCF7L2_ENST00000542695.1_Missense_Mutation_p.L125R|TCF7L2_ENST00000536810.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000538897.1_Missense_Mutation_p.L409R Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 409 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GAGCGACAGCTTCATATGCAA 0.527000 T VTI1A colorectal 21 204 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734264 12734264 + Silent SNP C C T TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chrX:12734264C>T ENST00000380682.1 + 15 2192 c.1686C>T c.(1684-1686)ggC>ggT p.G562G NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 562 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CCTTTATTGGCGAAGGGGAAC 0.468000 9 75 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6709693 6709693 + Splice_Site SNP A A G TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr19:6709693A>G ENST00000245907.6 - 14 1938 c.e14+1 NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ACTGGCCCTTACCTTACTCTG 0.627000 26 181 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50586070 50586070 + Splice_Site SNP G G A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr13:50586070G>A ENST00000378182.3 + 2 732 c.e2-1 TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Splice_Site|TRIM13_ENST00000420995.2_Splice_Site|TRIM13_ENST00000298772.5_Splice_Site|TRIM13_ENST00000457662.2_Splice_Site NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) TTTTCTGGTAGGATGTGATGG 0.373000 26 65 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176857877 176857877 + Silent SNP C C T TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr5:176857877C>T ENST00000355472.5 + 2 225 c.57C>T c.(55-57)ggC>ggT p.G19G GRK6_ENST00000507633.1_Silent_p.G19G|GRK6_ENST00000355958.5_Silent_p.G19G|GRK6_ENST00000528793.1_Silent_p.G19G|GRK6_ENST00000393576.3_Silent_p.G19G NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 19 N-terminal. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCACAGGTGGCGGTGGAAATC 0.612000 9 24 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1552970 1552970 + Missense_Mutation SNP C C A TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr16:1552970C>A ENST00000262319.6 + 15 2088 c.1809C>A c.(1807-1809)aaC>aaA p.N603K TELO2_ENST00000564507.1_3'UTR NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 603 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) ATGCCCTCAACTACAGCCTCC 0.642000 6 142 5.18039e-06 5.89989e-06 1 1 0 FAM193A 8603 broad.mit.edu 37 4 2696820 2696820 + Silent SNP C C T TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr4:2696820C>T ENST00000324666.5 + 15 2718 c.2367C>T c.(2365-2367)tgC>tgT p.C789C FAM193A_ENST00000505311.1_Silent_p.C789C|FAM193A_ENST00000382839.3_Silent_p.C789C|FAM193A_ENST00000545951.1_Silent_p.C789C|FAM193A_ENST00000502458.1_Silent_p.C811C NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 789 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GCAAGTACTGCGACTGCTGCT 0.582000 5 50 0 0 1 0 0 ZNF876P 0 broad.mit.edu 37 4 248382 248382 + RNA SNP A A C TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr4:248382A>C ENST00000356347.3 + 0 1206 NR_027481.1 CTGGGCAAAAACCCTACAAAT 0.373000 7 6 0 0 1 0 0 PRR5-ARHGAP8 0 broad.mit.edu 37 22 45221460 45221460 + Missense_Mutation SNP G G A rs140257857 TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chr22:45221460G>A ENST00000352766.7 + 12 1213 c.1213G>A c.(1213-1215)Gtc>Atc p.V405I PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V326I|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V195I|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V226I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V317I|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V195I|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V405I breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 GCAGTTTGGCGTCAGTCTGCA 0.642000 3 28 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938654 76938655 + Frame_Shift_Ins INS - - T TCGA-HW-7489-01A-11D-2024-08 TCGA-HW-7489-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx b715d3c6-d531-4459-b0c6-af666fee4ba0 33621334-7062-489b-933b-411706720ca0 g.chrX:76938654_76938655insT ENST00000373344.5 - 9 2307_2308 c.2093_2094insA c.(2092-2094)agafs p.R698fs ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R660fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 698 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) TACGCTTATCCTTTTTTCTCAC 0.356 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 77 55 --- --- --- ---