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 OTOP1 133060 broad.mit.edu 37 4 4214703 4214703 + Silent SNP G G A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr4:4214703G>A ENST00000296358.4 - 2 456 c.432C>T c.(430-432)acC>acT p.T144T NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 144 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCAGGATGACGGTAATGACTG 0.388000 16 33 0 0 0.520397 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 3 15 0 0 0.115264 0 0 SYNE1 23345 broad.mit.edu 37 6 152783987 152783987 + Silent SNP T T C TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr6:152783987T>C ENST00000367255.5 - 20 2737 c.2136A>G c.(2134-2136)gaA>gaG p.E712E SYNE1_ENST00000413186.2_Silent_p.E712E|SYNE1_ENST00000367248.3_Silent_p.E702E|SYNE1_ENST00000495090.2_Silent_p.E279E|SYNE1_ENST00000367253.4_Silent_p.E712E|SYNE1_ENST00000448038.1_Silent_p.E719E|SYNE1_ENST00000265368.4_Silent_p.E712E|SYNE1_ENST00000341594.5_Silent_p.E719E|SYNE1_ENST00000423061.1_Silent_p.E719E|SYNE1_ENST00000466159.2_Silent_p.E712E NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 712 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGTCTGTGTATTCCTTCTTCA 0.433000 HNSCC(10;0.0054) 14 60 0 0 0.479597 0 0 CELSR3 1951 broad.mit.edu 37 3 48698353 48698353 + Missense_Mutation SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr3:48698353C>T ENST00000544264.1 - 1 1995 c.1715G>A c.(1714-1716)cGg>cAg p.R572Q CELSR3_ENST00000164024.4_Missense_Mutation_p.R572Q Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 572 Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTCCTTGTCCCGGTCAGTGGC 0.607000 8 28 0 0 0.307466 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011344 105011344 + Missense_Mutation SNP T T G TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chrX:105011344T>G ENST00000372582.1 + 11 2507 c.1751T>G c.(1750-1752)aTa>aGa p.I584R IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.I584R|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.I189R NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 584 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTCCAGCCTATACCCTCTATT 0.463000 30 74 0 0 0.769981 0 0 OR1L8 138881 broad.mit.edu 37 9 125330525 125330525 + Missense_Mutation SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr9:125330525C>T ENST00000304865.2 - 1 313 c.232G>A c.(232-234)Gtt>Att p.V78I NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TTGGGGACAACGCTTGTTGTA 0.453000 23 44 0 0 0.624587 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 93 0 0 0.184627 0 0 AMICA1 120425 broad.mit.edu 37 11 118074285 118074285 + Silent SNP C C G TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr11:118074285C>G ENST00000292067.7 - 5 1041 c.600G>C c.(598-600)ggG>ggC p.G200G AMICA1_ENST00000533261.1_Silent_p.G199G|AMICA1_ENST00000526620.1_Silent_p.G171G|AMICA1_ENST00000356289.5_Silent_p.G210G NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 210 Ig-like V-type 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGAAAATGTCCCCCACCAGGT 0.507000 20 123 0 0 0.592651 0 0 TTN 7273 broad.mit.edu 37 2 179637874 179637874 + Missense_Mutation SNP G G A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr2:179637874G>A ENST00000589042.1 - 33 8041 c.7817C>T c.(7816-7818)gCg>gTg p.A2606V TTN_ENST00000359218.5_Missense_Mutation_p.A2560V|TTN_ENST00000342175.6_Missense_Mutation_p.A2560V|TTN_ENST00000591111.1_Missense_Mutation_p.A2606V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2606V|TTN_ENST00000460472.2_Missense_Mutation_p.A2560V|TTN_ENST00000360870.5_Missense_Mutation_p.A2606V|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2340 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) ATTTTCTCCCGCGTAAAATGT 0.289000 13 36 0 0 0.457914 0 0 DMXL1 1657 broad.mit.edu 37 5 118485663 118485663 + Missense_Mutation SNP A A T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr5:118485663A>T ENST00000311085.8 + 18 4221 c.4141A>T c.(4141-4143)Agc>Tgc p.S1381C DMXL1_ENST00000539542.1_Missense_Mutation_p.S1381C NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1381 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TGCTAGTGGAAGCACTACCAG 0.453000 17 43 0 0 0.520397 0 0 PIEZO2 63895 broad.mit.edu 37 18 10691245 10691245 + Missense_Mutation SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr18:10691245C>T ENST00000302079.6 - 44 6987 c.6988G>A c.(6988-6990)Gtc>Atc p.V2330I PIEZO2_ENST00000503781.3_Missense_Mutation_p.V2330I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.V287I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2355I|PIEZO2_ENST00000285141.4_Missense_Mutation_p.V185I Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2330 integral to membrane ion channel activity p.V2330I(1)|p.V185I(1) AAGAGGTTGACGTAATTGTAG 0.488000 37 90 0 0 0.827153 0 0 ICAM5 7087 broad.mit.edu 37 19 10401990 10401990 + Missense_Mutation SNP C C G TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr19:10401990C>G ENST00000221980.4 + 2 388 c.325C>G c.(325-327)Cag>Gag p.Q109E ICAM5_ENST00000586004.1_3'UTR NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 109 Ig-like C2-type 1. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GCGCACACTACAGGCGCGTGG 0.682000 27 56 0 0 0.729181 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 4 13 0 0 0.150653 0 0 EFNB3 1949 broad.mit.edu 37 17 7611424 7611424 + Missense_Mutation SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr17:7611424C>T ENST00000226091.2 + 2 668 c.271C>T c.(271-273)Cgc>Tgc p.R91C NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 91 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity p.R91C(1) large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TCAGGGCCGGCGCTGTGAGGC 0.602000 10 113 0 0 0.361761 0 0 OR2B3 442184 broad.mit.edu 37 6 29054524 29054524 + Missense_Mutation SNP G G A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr6:29054524G>A ENST00000377173.2 - 1 566 c.502C>T c.(502-504)Cgc>Tgc p.R168C NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 TGACCACAGCGTGGCATGTTA 0.488000 15 32 0 0 0.457914 0 0 SGIP1 84251 broad.mit.edu 37 1 67142747 67142747 + Missense_Mutation SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr1:67142747C>T ENST00000371037.4 + 13 784 c.707C>T c.(706-708)tCg>tTg p.S236L SGIP1_ENST00000371039.1_Missense_Mutation_p.S204L|SGIP1_ENST00000371035.3_Missense_Mutation_p.S193L|SGIP1_ENST00000371036.3_Missense_Mutation_p.S203L|SGIP1_ENST00000237247.6_Missense_Mutation_p.S240L|SGIP1_ENST00000468286.1_3'UTR NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 236 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 AGCATGGAGTCGCCAAAGTTA 0.403000 28 79 0 0 0.706142 0 0 PTEN 5728 broad.mit.edu 37 10 89692830 89692830 + Missense_Mutation SNP G G A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr10:89692830G>A ENST00000371953.3 + 5 1671 c.314G>A c.(313-315)tGt>tAt p.C105Y NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 105 Phosphatase tensin-type. C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105S(3)|p.Y27fs*1(2)|p.C105Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AAACCCTTTTGTGAAGATCTT 0.373000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 48 45 0 0 0.870114 0 0 MYH13 8735 broad.mit.edu 37 17 10214497 10214497 + Missense_Mutation SNP G G T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr17:10214497G>T ENST00000418404.3 - 32 4742 c.4579C>A c.(4579-4581)Ctt>Att p.L1527I MYH13_ENST00000252172.4_Missense_Mutation_p.L1527I|MYH13_ENST00000570743.1_Missense_Mutation_p.L1527I Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1527 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCTTCCTGAAGATTCTTGCCA 0.443000 16 49 2.48551e-13 2.85833e-13 0.520397 1 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124693 26124693 + Missense_Mutation SNP G G A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr6:26124693G>A ENST00000602637.1 + 1 263 c.233G>A c.(232-234)cGc>cAc p.R78H HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R78H Q93077 H2A1C_HUMAN histone cluster 1, H2ac 78 nucleosome assembly nucleosome|nucleus DNA binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5) 12 AAGAAGACTCGCATCATCCCG 0.652000 42 74 0 0 0.870114 0 0 MED12 9968 broad.mit.edu 37 X 70351408 70351408 + Missense_Mutation SNP C C A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chrX:70351408C>A ENST00000333646.6 + 29 4255 c.4056C>A c.(4054-4056)gaC>gaA p.D1352E MED12_ENST00000374102.1_Missense_Mutation_p.D1352E|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Missense_Mutation_p.D1352E NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1352 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) AGAACTTGGACCAGTGGACCA 0.542000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 6 49 8.12818e-05 9.04588e-05 0.248553 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121684517 121684517 + Missense_Mutation SNP A A G TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr7:121684517A>G ENST00000393386.2 + 23 6390 c.5979A>G c.(5977-5979)atA>atG p.I1993M PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I1126M NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1993 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TTGAGGCCATACTTAGTAAAG 0.393000 32 87 0 0 0.788014 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 46 0 0 0.184627 0 0 EFEMP2 30008 broad.mit.edu 37 11 65635447 65635447 + Missense_Mutation SNP G G A rs142826827 TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr11:65635447G>A ENST00000307998.6 - 10 1285 c.1055C>T c.(1054-1056)tCg>tTg p.S352L EFEMP2_ENST00000528176.1_Missense_Mutation_p.S352L NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 352 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) GCTCCGCTCCGAGGTGATGGT 0.627000 7 97 0 0 0.278610 0 0 GDF6 392255 broad.mit.edu 37 8 97157718 97157718 + Missense_Mutation SNP C C G TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr8:97157718C>G ENST00000287020.5 - 2 540 c.441G>C c.(439-441)aaG>aaC p.K147N NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 147 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) CAAACAAATACTTCTGTCTCC 0.562000 13 29 0 0 0.479597 0 0 ZNF429 353088 broad.mit.edu 37 19 21720782 21720782 + Missense_Mutation SNP C C A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr19:21720782C>A ENST00000358491.4 + 4 2135 c.1927C>A c.(1927-1929)Cat>Aat p.H643N ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 643 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 TAAGAAAATTCATAGGATggg 0.458000 7 50 0.0381472 0.0411275 0.278610 1 0 OLFM4 10562 broad.mit.edu 37 13 53603144 53603144 + Missense_Mutation SNP G G A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr13:53603144G>A ENST00000219022.2 + 1 251 c.173G>A c.(172-174)cGc>cAc p.R58H NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 58 Ser-rich. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) agctccagccgcagcTTAGGC 0.582000 4 61 0 0 0.150653 0 0 PRPF8 10594 broad.mit.edu 37 17 1585131 1585131 + Silent SNP C C T rs143150486 TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr17:1585131C>T ENST00000572621.1 - 4 901 c.636G>A c.(634-636)ccG>ccA p.P212P PRPF8_ENST00000304992.6_Silent_p.P212P Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 212 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTCCCTCAACGGCTGGTGGT 0.542000 8 136 0 0 0.278610 0 0 GLIS3 169792 broad.mit.edu 37 9 4118007 4118007 + Missense_Mutation SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr9:4118007C>T ENST00000324333.10 - 3 1199 c.1006G>A c.(1006-1008)Ggg>Agg p.G336R GLIS3_ENST00000381971.3_Missense_Mutation_p.G491R NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 336 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TCCATCTCCCCGTCGTCGTCC 0.692000 6 58 0 0 0.217242 0 0 PGM5 5239 broad.mit.edu 37 9 71098810 71098810 + Missense_Mutation SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr9:71098810C>T ENST00000396396.1 + 9 1554 c.1325C>T c.(1324-1326)aCg>aTg p.T442M NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 442 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 GATCCCAAGACGACATATTAT 0.512000 10 44 0 0 0.361761 0 0 PSG9 5678 broad.mit.edu 37 19 43766011 43766011 + Splice_Site SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr19:43766011C>T ENST00000244293.7 - 3 776 c.e3+1 PSG9_ENST00000596730.1_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Splice_Site|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Splice_Site|PSG9_ENST00000291752.5_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AAGATACTCACGGAGGAGATT 0.522000 86 160 0 0 0.870114 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 5 11 0 0 0.217242 0 0 PRKCA 5578 broad.mit.edu 37 17 64785022 64785022 + Silent SNP G G A rs2228945 byFrequency TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr17:64785022G>A ENST00000413366.3 + 16 1805 c.1779G>A c.(1777-1779)gaG>gaA p.E593E NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 593 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding p.E593E(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) ACGTGAGAGAGCATGCCTTCT 0.537000 4 73 0 0 0.184627 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135862897 135862897 + Missense_Mutation SNP T T A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chrX:135862897T>A ENST00000250617.6 - 1 1350 c.145A>T c.(145-147)Atg>Ttg p.M49L NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 49 CH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) GAGCCAGGCATGAGTCTGTTG 0.418000 65 151 0 0 0.870114 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190934 42190934 + Missense_Mutation SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr19:42190934C>T ENST00000006724.3 - 2 484 c.283G>A c.(283-285)Gca>Aca p.A95T CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.A95T|CEACAM7_ENST00000602225.1_Missense_Mutation_p.A95T|CEACAM7_ENST00000338196.4_Missense_Mutation_p.A95T NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 95 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CCGTTGTGTGCGGGCCCTGGG 0.443000 69 147 0 0 0.870114 0 0 ARID1B 57492 broad.mit.edu 37 6 157454205 157454205 + Nonsense_Mutation SNP T T A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr6:157454205T>A ENST00000346085.5 + 8 2416 c.2415T>A c.(2413-2415)taT>taA p.Y805* ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Y792*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Y792*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Y734* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 792 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TGGCTCAGTATGGACCTCAAC 0.463000 25 36 0 0 0.706142 0 0 SPTSSB 165679 broad.mit.edu 37 3 161063918 161063918 + Nonsense_Mutation SNP G G T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr3:161063918G>T ENST00000359175.4 - 3 1764 c.194C>A c.(193-195)tCa>tAa p.S65* SPTSSB_ENST00000497137.1_Nonsense_Mutation_p.S65* NM_001040100.1 NP_001035189.1 Q8NFR3 SSPTB_HUMAN serine palmitoyltransferase, small subunit B 65 sphingolipid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex protein binding ACATATTTTTGAGAAAAATTC 0.338000 3 40 0.115264 0.122357 0.115264 1 0 STAB2 55576 broad.mit.edu 37 12 103984727 103984727 + Missense_Mutation SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr12:103984727C>T ENST00000388887.2 + 2 338 c.134C>T c.(133-135)tCc>tTc p.S45F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 45 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GAGTGCCGATCCTGCGCTCTC 0.423000 24 71 0 0 0.654019 0 0 COBL 23242 broad.mit.edu 37 7 51287614 51287614 + Silent SNP T T G rs145775268 by1000genomes TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr7:51287614T>G ENST00000395542.2 - 2 253 c.69A>C c.(67-69)ccA>ccC p.P23P COBL_ENST00000265136.7_Silent_p.P23P|COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 23 Poly-Pro. NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TTCCAGGAGGTGGGGGAGCAC 0.552000 6 36 0 0 0.307466 0 0 FBXL7 23194 broad.mit.edu 37 5 15936897 15936897 + Missense_Mutation SNP T T A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr5:15936897T>A ENST00000504595.1 + 4 1559 c.1078T>A c.(1078-1080)Tgc>Agc p.C360S FBXL7_ENST00000510662.1_Missense_Mutation_p.C313S|FBXL7_ENST00000329673.7_Missense_Mutation_p.C348S NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 360 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CATCGCGCACTGCGGCCGGGT 0.677000 4 9 0 0 0.150653 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846864 47846864 + Silent SNP G G A TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr6:47846864G>A ENST00000339488.4 - 3 1749 c.1716C>T c.(1714-1716)atC>atT p.I572I NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 572 integral to membrane hedgehog receptor activity GCAGGACACTGATGAAGTCAC 0.428000 9 19 0 0 0.307466 0 0 FBN2 2201 broad.mit.edu 37 5 127800434 127800434 + Missense_Mutation SNP C C T rs148971572 byFrequency TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr5:127800434C>T ENST00000508053.1 - 12 1783 c.809G>A c.(808-810)cGc>cAc p.R270H FBN2_ENST00000262464.4_Missense_Mutation_p.R270H|FBN2_ENST00000508989.1_Missense_Mutation_p.R237H P35556 FBN2_HUMAN fibrillin 2 270 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGCTCCAGTGCGGATGTTGGG 0.592000 32 59 0 0 0.769981 0 0 ZNF519 162655 broad.mit.edu 37 18 14106371 14106371 + Silent SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr18:14106371C>T ENST00000590202.1 - 3 320 c.168G>A c.(166-168)gaG>gaA p.E56E ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 GTATGCCTTGCTCTGGTAAAA 0.333000 15 28 0 0 0.479597 0 0 MXRA5 25878 broad.mit.edu 37 X 3229518 3229518 + Silent SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chrX:3229518C>T ENST00000217939.6 - 7 6880 c.6726G>A c.(6724-6726)ccG>ccA p.P2242P NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2242 Ig-like C2-type 7. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAATCTTGGCCGGTTTCATCA 0.517000 30 104 0 0 0.760397 0 0 RET 5979 broad.mit.edu 37 10 43597996 43597996 + Missense_Mutation SNP C C T TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr10:43597996C>T ENST00000355710.3 + 3 776 c.544C>T c.(544-546)Cca>Tca p.P182S RET_ENST00000340058.5_Missense_Mutation_p.P182S NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 182 Cadherin. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GAACCGACCCCCAGGCACCTT 0.627000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 23 18 0 0 0.624587 0 0 FKBP9L 360132 broad.mit.edu 37 7 55750333 55750333 + RNA SNP G G A rs13310841 by1000genomes TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr7:55750333G>A ENST00000455909.1 - 0 884 NR_027340.1|NR_027342.1 FK506 binding protein 9-like endometrium(1)|kidney(1)|lung(3) 5 CATCTGGTTCGTGCCAGGTTT 0.512000 10 13 0 0 0.387290 0 0 TMEM206 55248 broad.mit.edu 37 1 212553255 212553255 + Missense_Mutation SNP A A G TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr1:212553255A>G ENST00000261455.4 - 5 757 c.620T>C c.(619-621)tTc>tCc p.F207S TMEM206_ENST00000535273.1_Missense_Mutation_p.F268S NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 207 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) GAACTCCTGGAAAGAAGAGAA 0.498000 28 84 0 0 0.779181 0 0 RPS10P7 0 broad.mit.edu 37 1 201489731 201489731 + RNA DEL G G - rs4915234 by1000genomes TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr1:201489731delG ENST00000441932.1 + 0 1901 RP11-134G8.7_ENST00000454651.1_RNA NR_026667.1 AAAAAaaaaagaaagaaagct 0.423 3 5 --- --- --- --- SFXN5 94097 broad.mit.edu 37 2 73227600 73227600 + Frame_Shift_Del DEL T T - TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr2:73227600delT ENST00000272433.2 - 8 558 c.428delA c.(427-429)ccfs p.H143fs SFXN5_ENST00000410065.1_Frame_Shift_Del_p.H143fs|SFXN5_ENST00000474528.1_5'UTR NM_144579.2 NP_653180.1 Q8TD22 SFXN5_HUMAN sideroflexin 5 143 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 ACAGGCATTGTGGCTCTGGTT 0.587 2 4 --- --- --- --- RP11-21G20.3 0 broad.mit.edu 37 4 155691566 155691566 + RNA DEL T T - TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr4:155691566delT ENST00000515071.1 - 0 165 GCCTATCTGGTTAGCCAGGGG 0.498 2 4 --- --- --- --- NOTCH4 4855 broad.mit.edu 37 6 32180628 32180628 + Frame_Shift_Del DEL G G - TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr6:32180628delG ENST00000375023.3 - 16 2637 c.2499delC c.(2497-2499)ccfs p.P833fs NOTCH4_ENST00000465528.1_Intron NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 833 EGF-like 21. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TGTAGCCAGTGGGGCAGAGGC 0.622 2 4 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 3 4 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 7 237 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48919319 48919320 + Frame_Shift_Del DEL TT TT - TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr13:48919319_48919320delTT ENST00000267163.4 + 4 622_623 c.484_485delTT c.(484-486)cfs p.F162fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 162 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6)|p.F162fs*13(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTTTGCACTCTTCAGCAAATTG 0.287 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 39 48 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-DU-7290-01A-11D-2024-08 TCGA-DU-7290-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 78e1afce-55f4-4924-9fa3-4e5227c2818c a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62 g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 4 3 --- --- --- ---