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 ADAMTS19 171019 broad.mit.edu 37 5 129039955 129039955 + Silent SNP C C A TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr5:129039955C>A ENST00000274487.4 + 21 3310 c.3165C>A c.(3163-3165)ggC>ggA p.G1055G ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1055 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GTGGCAAAGGCATACGTCATC 0.428000 59 100 3.28615e-30 2.33131e-29 0.003610 1 0 MED22 6837 broad.mit.edu 37 9 136211169 136211169 + Missense_Mutation SNP A A G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr9:136211169A>G ENST00000491289.1 - 4 805 c.224T>C c.(223-225)cTg>cCg p.L75P MED22_ENST00000486395.1_Missense_Mutation_p.L75P|MED22_ENST00000371999.1_Missense_Mutation_p.L69P|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000344469.5_Missense_Mutation_p.L75P|MED22_ENST00000343730.5_Missense_Mutation_p.L75P|MED22_ENST00000476080.1_Missense_Mutation_p.L75P Q15528 MED22_HUMAN mediator complex subunit 22 75 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|mediator complex|soluble fraction protein binding endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05) CAGCTTCATCAGGGACTCGCC 0.627000 3 48 0 0 0.004672 0 0 PRDM5 11107 broad.mit.edu 37 4 121631494 121631494 + Silent SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr4:121631494C>T ENST00000264808.3 - 15 1938 c.1698G>A c.(1696-1698)acG>acA p.T566T PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Silent_p.T535T|PRDM5_ENST00000515109.1_3'UTR NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 566 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTCCAGTGTGCGTCCTCTTGT 0.488000 8 28 0 0 0.006214 0 0 JPH4 84502 broad.mit.edu 37 14 24040638 24040638 + Silent SNP G G A TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr14:24040638G>A ENST00000397118.3 - 6 2204 c.1302C>T c.(1300-1302)tcC>tcT p.S434S JPH4_ENST00000544177.1_Silent_p.S99S|JPH4_ENST00000356300.4_Silent_p.S434S NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 434 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GCTCCGTGTCGGAACCTTCTG 0.617000 6 43 0 0 0.001168 0 0 POTEE 445582 broad.mit.edu 37 2 132021756 132021756 + Missense_Mutation SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr2:132021756C>T ENST00000356920.5 + 15 2822 c.2728C>T c.(2728-2730)Cgt>Tgt p.R910C PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 910 Actin-like. ATP binding p.R910G(1) GGAAATCGTGCGTGACATCAA 0.602000 14 161 0 0 0.002780 0 0 CNOT10 25904 broad.mit.edu 37 3 32754815 32754815 + Missense_Mutation SNP A A G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr3:32754815A>G ENST00000328834.5 + 5 843 c.527A>G c.(526-528)gAa>gGa p.E176G CNOT10_ENST00000538368.1_Intron|CNOT10_ENST00000454516.2_Missense_Mutation_p.E236G|CNOT10_ENST00000331889.6_Missense_Mutation_p.E176G NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 176 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 GCTGTCCTAGAAAAAATGATT 0.348000 23 51 0 0 0.005443 0 0 HAVCR1 26762 broad.mit.edu 37 5 156482407 156482407 + Missense_Mutation SNP C C G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr5:156482407C>G ENST00000339252.3 - 2 716 c.184G>C c.(184-186)Gtc>Ctc p.V62L HAVCR1_ENST00000522693.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000425854.1_Missense_Mutation_p.V62L NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 62 Ig-like V-type. interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGGTCCAGACAATGCCATTT 0.478000 10 26 0 0 0.008291 0 0 MAP3K8 1326 broad.mit.edu 37 10 30739296 30739296 + Missense_Mutation SNP T T C TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr10:30739296T>C ENST00000263056.1 + 5 1310 c.614T>C c.(613-615)cTc>cCc p.L205P MAP3K8_ENST00000542547.1_Missense_Mutation_p.L205P|MAP3K8_ENST00000375321.1_Missense_Mutation_p.L205P NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 205 Protein kinase. cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) ACTGTCCATCTCTTTATGGAA 0.488000 4 78 0 0 0.000248 0 0 KIF13A 63971 broad.mit.edu 37 6 17764345 17764345 + Missense_Mutation SNP T T C TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr6:17764345T>C ENST00000259711.6 - 39 5519 c.5414A>G c.(5413-5415)cAa>cGa p.Q1805R KIF13A_ENST00000378816.5_Missense_Mutation_p.Q1770R|KIF13A_ENST00000378826.2_Missense_Mutation_p.Q1770R|KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378843.2_Missense_Mutation_p.Q1757R NM_022113.5 NP_071396.4 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1805 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) ACATACTCATTGACAGCACAG 0.493000 8 22 0 0 0.004482 0 0 TYW3 127253 broad.mit.edu 37 1 75204387 75204387 + Missense_Mutation SNP A A G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr1:75204387A>G ENST00000370867.3 + 3 358 c.269A>G c.(268-270)aAg>aGg p.K90R TYW3_ENST00000457880.2_Intron|TYW3_ENST00000421739.2_Intron|TYW3_ENST00000479111.1_3'UTR NM_138467.2 NP_612476.1 Q6IPR3 TYW3_HUMAN tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) 90 tRNA processing methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1) 15 GTAGCTCTGAAGAAAGCAAAT 0.383000 15 18 0 0 0.004990 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936092 178936092 + Missense_Mutation SNP A A C rs121913274 TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr3:178936092A>C ENST00000263967.3 + 10 1791 c.1634A>C c.(1633-1635)gAg>gCg p.E545A NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545A(96)|p.E545G(78)|p.E545V(4) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAATCACTGAGCAGGAGAAA 0.353000 E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 31 0 0 0.004482 0 0 ADH1C 126 broad.mit.edu 37 4 100260814 100260814 + RNA SNP A A T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr4:100260814A>T ENST00000515683.1 - 0 1374 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CATCCAGTGAAAACTTCTTAG 0.328000 7 106 0 0 0.001984 0 0 FBXO47 494188 broad.mit.edu 37 17 37107930 37107930 + Missense_Mutation SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr17:37107930C>T ENST00000378079.2 - 6 719 c.520G>A c.(520-522)Ggt>Agt p.G174S NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 174 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 TCATCCCAACCTGCTGTTAAG 0.423000 14 42 0 0 0.002450 0 0 XDH 7498 broad.mit.edu 37 2 31588394 31588394 + Nonsense_Mutation SNP G G A TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr2:31588394G>A ENST00000379416.3 - 23 2521 c.2473C>T c.(2473-2475)Cga>Tga p.R825* NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 825 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.R825*(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGCATGCATCGCACAGGGCGG 0.572000 39 98 0 0 0.002222 0 0 ZEB2 9839 broad.mit.edu 37 2 145157730 145157730 + Missense_Mutation SNP C C G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr2:145157730C>G ENST00000558170.2 - 8 2208 c.1024G>C c.(1024-1026)Ggc>Cgc p.G342R ZEB2_ENST00000303660.4_Missense_Mutation_p.G342R|ZEB2_ENST00000539609.3_Missense_Mutation_p.G318R|ZEB2_ENST00000409487.3_Missense_Mutation_p.G342R NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 342 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CTCATTCGGCCATTTACAGAG 0.413000 7 35 0 0 0.001984 0 0 EIF4B 1975 broad.mit.edu 37 12 53431273 53431273 + Missense_Mutation SNP A A G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr12:53431273A>G ENST00000262056.9 + 11 1713 c.1387A>G c.(1387-1389)Aaa>Gaa p.K463E RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.K468E|EIF4B_ENST00000416762.3_Missense_Mutation_p.K424E NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 463 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 TCCAACTTCTAAACCTCCCAA 0.478000 14 19 0 0 0.008871 0 0 TMCO4 255104 broad.mit.edu 37 1 20073705 20073705 + Silent SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr1:20073705C>T ENST00000294543.6 - 8 805 c.564G>A c.(562-564)aaG>aaA p.K188K TMCO4_ENST00000375122.2_Silent_p.K188K|TMCO4_ENST00000375127.1_Silent_p.K188K NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 188 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GGAGATAACGCTTCCATTTCC 0.547000 11 305 0 0 0.008291 0 0 OR5K2 402135 broad.mit.edu 37 3 98217294 98217294 + Missense_Mutation SNP T T C TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr3:98217294T>C ENST00000427338.1 + 1 847 c.770T>C c.(769-771)tTc>tCc p.F257S CLDND1_ENST00000502288.1_Intron NM_001004737.1 NP_001004737.1 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, member 2 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TCTATTTTTTTCCTATACATT 0.333000 14 40 0 0 0.002450 0 0 CPVL 54504 broad.mit.edu 37 7 29134736 29134736 + Nonsense_Mutation SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr7:29134736C>T ENST00000409850.1 - 9 1072 c.426G>A c.(424-426)tgG>tgA p.W142* CPVL_ENST00000396276.3_Nonsense_Mutation_p.W142*|CPVL_ENST00000265394.5_Nonsense_Mutation_p.W142* Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 142 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 GCGTTGTGGTCCAGGGGAAGT 0.507000 11 42 0 0 0.001368 0 0 GCFC2 6936 broad.mit.edu 37 2 75929421 75929421 + Missense_Mutation SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr2:75929421C>T ENST00000321027.3 - 3 656 c.523G>A c.(523-525)Gaa>Aaa p.E175K GCFC2_ENST00000470503.1_Missense_Mutation_p.E175K|GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Missense_Mutation_p.E175K NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 175 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity GGGTCATCTTCGCTCTCTCTC 0.453000 13 119 0 0 0.001368 0 0 SELPLG 0 broad.mit.edu 37 12 109017462 109017462 + Missense_Mutation SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr12:109017462C>T ENST00000388962.3 - 3 751 c.592G>A c.(592-594)Gcc>Acc p.A198T SELPLG_ENST00000550948.1_Missense_Mutation_p.A208T|SELPLG_ENST00000228463.6_Missense_Mutation_p.A224T NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 208 12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 GCTTCCATGGCTGCTGGTGCA 0.622000 10 34 0 0 0.008291 0 0 CNGA2 1260 broad.mit.edu 37 X 150909279 150909279 + Missense_Mutation SNP C C G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chrX:150909279C>G ENST00000329903.4 + 4 421 c.388C>G c.(388-390)Cta>Gta p.L130V NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 130 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GAAATTTGAACTATTTGTCTT 0.527000 40 124 0 0 0.003610 0 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr17:7578271T>G ENST00000420246.2 - 6 710 c.578A>C c.(577-579)cAt>cCt p.H193P TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000269305.4_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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) TCGGATAAGATGCTGAGGAGG 0.562000 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) 6 17 0 0 0.001984 0 0 SMTN 6525 broad.mit.edu 37 22 31484563 31484563 + Missense_Mutation SNP A A G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr22:31484563A>G ENST00000333137.7 + 4 483 c.265A>G c.(265-267)Atg>Gtg p.M89V SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.M89V|SMTN_ENST00000347557.2_Missense_Mutation_p.M89V NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 89 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCTGGAGTCCATGAACGATGT 0.637000 7 46 0 0 0.003080 0 0 RAD50 10111 broad.mit.edu 37 5 131930714 131930714 + Silent SNP T T A TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr5:131930714T>A ENST00000378823.3 + 12 2348 c.1530T>A c.(1528-1530)atT>atA p.I510I RAD50_ENST00000265335.6_Silent_p.I649I NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 649 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGAGGAAATTGAAAAATCAT 0.368000 Homologous recombination 10 62 0 0 0.000978 0 0 ACIN1 22985 broad.mit.edu 37 14 23564434 23564434 + Missense_Mutation SNP C C G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr14:23564434C>G ENST00000262710.1 - 1 389 c.62G>C c.(61-63)cGa>cCa p.R21P ACIN1_ENST00000555053.1_Missense_Mutation_p.R21P|C14orf119_ENST00000319074.4_5'UTR|ACIN1_ENST00000457657.1_Missense_Mutation_p.R21P NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 21 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CTCTACCCCTCGATTACCACT 0.592000 8 98 0 0 0.004482 0 0 TP53 7157 broad.mit.edu 37 17 7578177 7578177 + Splice_Site SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr17:7578177C>T ENST00000420246.2 - 6 804 c.672_splice c.e6+1 p.E224_splice TP53_ENST00000413465.2_Splice_Site_p.E224_splice|TP53_ENST00000445888.2_Splice_Site_p.E224_splice|TP53_ENST00000455263.2_Splice_Site_p.E224_splice|TP53_ENST00000269305.4_Splice_Site_p.E224_splice|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site_p.E224_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 224 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; 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.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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) CAAACCAGACCTCAGGCGGCT 0.532000 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) 11 11 0 0 0.001368 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 18 48 0 0 0.001882 0 0 AIM1L 55057 broad.mit.edu 37 1 26650673 26650673 + Nonsense_Mutation SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr1:26650673C>T ENST00000527815.1 - 17 2134 c.2085G>A c.(2083-2085)tgG>tgA p.W695* AIM1L_ENST00000308182.5_Nonsense_Mutation_p.W524* NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 524 sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) CCTCGTAGTACCAGATGCAGC 0.622000 18 45 0 0 0.002780 0 0 RP11-385D13.1 0 broad.mit.edu 37 17 15510998 15510998 + Splice_Site SNP C C A TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr17:15510998C>A ENST00000455584.2 - 12 2096 c.e12-1 CDRT1_ENST00000395906.3_Splice_Site TGTACTCATTCTAACAAGGGA 0.488000 16 16 1.99824e-07 1.39136e-06 0.004990 1 0 NFKBIZ 64332 broad.mit.edu 37 3 101572700 101572700 + Missense_Mutation SNP G G T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr3:101572700G>T ENST00000326172.5 + 5 1445 c.1330G>T c.(1330-1332)Ggt>Tgt p.G444C NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G344C|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G322C NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 444 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 GGATGCAGATGGTGACACGTG 0.388000 15 61 7.93312e-07 5.42337e-06 0.002450 1 0 CAD 790 broad.mit.edu 37 2 27456961 27456961 + Missense_Mutation SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr2:27456961C>T ENST00000264705.4 + 22 3647 c.3485C>T c.(3484-3486)tCa>tTa p.S1162L CAD_ENST00000403525.1_Missense_Mutation_p.S1099L NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1162 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GGTGTGCATTCAGGTGATGCG 0.587000 25 27 0 0 0.003330 0 0 SLC5A9 200010 broad.mit.edu 37 1 48703490 48703490 + Missense_Mutation SNP G G C TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr1:48703490G>C ENST00000236495.5 + 12 1557 c.1507G>C c.(1507-1509)Gcc>Ccc p.A503P SLC5A9_ENST00000533824.1_Missense_Mutation_p.A499P|SLC5A9_ENST00000438567.2_Missense_Mutation_p.A478P NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 478 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 CTTCCTGCTGGCCATCTTCTG 0.572000 6 37 0 0 0.001168 0 0 PDZD2 23037 broad.mit.edu 37 5 32089975 32089975 + Missense_Mutation SNP A A G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr5:32089975A>G ENST00000438447.1 + 20 6809 c.6421A>G c.(6421-6423)Aca>Gca p.T2141A PDZD2_ENST00000282493.3_Missense_Mutation_p.T2141A O15018 PDZD2_HUMAN PDZ domain containing 2 2141 Ser-rich. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGAATCATCCACAAGTCATCC 0.562000 5 62 0 0 0.000602 0 0 EPHA5 2044 broad.mit.edu 37 4 66361196 66361196 + Missense_Mutation SNP T T C TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr4:66361196T>C ENST00000273854.3 - 4 1576 c.976A>G c.(976-978)Agt>Ggt p.S326G EPHA5_ENST00000354839.4_Missense_Mutation_p.S326G|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.S326G NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 326 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TGGGTATAACTGTGAGGTGGA 0.463000 TSP Lung(17;0.13) 11 113 0 0 0.000978 0 0 BLZF1 8548 broad.mit.edu 37 1 169346051 169346051 + Missense_Mutation SNP C C G rs143882259 byFrequency TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr1:169346051C>G ENST00000367808.3 + 3 725 c.302C>G c.(301-303)tCt>tGt p.S101C BLZF1_ENST00000367807.3_Missense_Mutation_p.S101C|BLZF1_ENST00000329281.2_Missense_Mutation_p.S101C Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 101 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) AAGGTTAAGTCTCTGGGACAT 0.373000 4 105 0 0 0.000602 0 0 ALG1L2 0 broad.mit.edu 37 3 129817127 129817127 + RNA SNP A A C TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr3:129817127A>C ENST00000507643.1 + 0 709 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CCAGTTCCGGAAGAACCTGCG 0.522000 3 36 0 0 0.000248 0 0 DCDC1 341019 broad.mit.edu 37 11 31312399 31312399 + Splice_Site SNP T T C TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr11:31312399T>C ENST00000597505.1 - 5 754 c.754_splice c.e5-1 p.D252_splice DCDC1_ENST00000452803.1_Splice_Site_p.D252_splice P59894 DCDC1_HUMAN doublecortin domain containing 1 252 Doublecortin. intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CAACAGATGGTCTAGAAGATA 0.338000 14 20 0 0 0.002450 0 0 NEDD4L 0 broad.mit.edu 37 18 55912729 55912729 + Missense_Mutation SNP A A G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr18:55912729A>G ENST00000382850.4 + 3 306 c.193A>G c.(193-195)Aca>Gca p.T65A NEDD4L_ENST00000431212.2_5'UTR|NEDD4L_ENST00000256830.9_Missense_Mutation_p.T65A|NEDD4L_ENST00000356462.6_Missense_Mutation_p.T65A|NEDD4L_ENST00000456986.1_5'UTR|NEDD4L_ENST00000357895.5_Missense_Mutation_p.T57A|NEDD4L_ENST00000400345.3_Missense_Mutation_p.T65A|NEDD4L_ENST00000586263.1_Missense_Mutation_p.T57A|NEDD4L_ENST00000456173.2_5'UTR|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000588516.1_3'UTR|NEDD4L_ENST00000256832.7_5'UTR NM_015277.5 NP_056092.2 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 65 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 CCAGACAAAAACAATTAAAAA 0.333000 2 6 0 0 0.004672 0 0 USH2A 7399 broad.mit.edu 37 1 216496989 216496989 + Silent SNP A A C TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr1:216496989A>C ENST00000366943.2 - 8 1763 c.1377T>G c.(1375-1377)ccT>ccG p.P459P USH2A_ENST00000307340.3_Silent_p.P459P|USH2A_ENST00000366942.3_Silent_p.P459P O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 459 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AATTTGGTCCAGGTGTCAGGA 0.373000 HNSCC(13;0.011) 35 93 0 0 0.002852 0 0 CROCC 9696 broad.mit.edu 37 1 17250936 17250936 + Missense_Mutation SNP G G A TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr1:17250936G>A ENST00000375541.5 + 3 382 c.313G>A c.(313-315)Gat>Aat p.D105N CROCC_ENST00000467938.1_Intron NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 105 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) TGCCGAGCGCGATGAGCTCGC 0.652000 9 23 0 0 0.006214 0 0 SCIN 85477 broad.mit.edu 37 7 12668832 12668832 + Missense_Mutation SNP A A T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr7:12668832A>T ENST00000297029.5 + 9 1405 c.1304A>T c.(1303-1305)cAg>cTg p.Q435L SCIN_ENST00000445618.2_Missense_Mutation_p.Q188L|SCIN_ENST00000519209.1_Missense_Mutation_p.Q188L NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 435 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CCCAGAGGACAGATTATCTAC 0.413000 22 66 0 0 0.003330 0 0 REV3L 5980 broad.mit.edu 37 6 111695954 111695954 + Missense_Mutation SNP C C G rs61756663 TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr6:111695954C>G ENST00000435970.1 - 15 4186 c.3370G>C c.(3370-3372)Gat>Cat p.D1124H REV3L_ENST00000368802.3_Missense_Mutation_p.D1202H|REV3L_ENST00000358835.3_Missense_Mutation_p.D1202H|REV3L_ENST00000368805.1_Missense_Mutation_p.D1202H O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1202 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTTCCATCATCTACTAGTTTA 0.333000 DNA polymerases (catalytic subunits) 3 53 0 0 0.004672 0 0 NRK 203447 broad.mit.edu 37 X 105167163 105167163 + Silent SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chrX:105167163C>T ENST00000428173.2 + 18 2970 c.2667C>T c.(2665-2667)aaC>aaT p.N889N NRK_ENST00000243300.9_Silent_p.N888N Q7Z2Y5 NRK_HUMAN Nik related kinase 888 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACTTGACAAACGAATGGGTAG 0.418000 HNSCC(51;0.14) 51 88 0 0 0.003610 0 0 PCDHA5 0 broad.mit.edu 37 5 140203383 140203383 + Missense_Mutation SNP C C G TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr5:140203383C>G ENST00000529859.1 + 1 2023 c.2023C>G c.(2023-2025)Ccg>Gcg p.P675A PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P675A|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P675A|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCCAGGCGCCGAAGGCCTC 0.672000 3 42 0 0 0.004672 0 0 AMER1 139285 broad.mit.edu 37 X 63410720 63410720 + Missense_Mutation SNP C C T TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chrX:63410720C>T ENST00000330258.3 - 2 2719 c.2447G>A c.(2446-2448)cGg>cAg p.R816Q AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) TTCCCCATCCCGTTCCACATC 0.498000 11 27 0 0 0.000978 0 0 GLOD4 51031 broad.mit.edu 37 17 685481 685481 + Silent SNP T T C TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr17:685481T>C ENST00000301329.6 - 1 100 c.15A>G c.(13-15)agA>agG p.R5R GLOD4_ENST00000536578.1_5'UTR|GLOD4_ENST00000301328.5_Silent_p.R5R NM_016080.3 NP_057164.3 Q9HC38 GLOD4_HUMAN glyoxalase domain containing 4 5 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) AGTGCAGAGCTCTGCGAGCAG 0.662000 4 17 0 0 0.000602 0 0 RIPK1 8737 broad.mit.edu 37 6 3105782 3105782 + Frame_Shift_Del DEL G G - TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr6:3105782delG ENST00000259808.4 + 9 1371 c.1073delG c.(1072-1074)tgfs p.W358fs RIPK1_ENST00000380409.2_Frame_Shift_Del_p.W358fs|RIPK1_ENST00000541791.1_Frame_Shift_Del_p.W312fs|RIPK1_ENST00000479389.1_3'UTR Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 358 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) GAGGAGTCCTGGTTTGCTCCT 0.527 47 111 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 3 5 --- --- --- --- CREBZF 58487 broad.mit.edu 37 11 85375242 85375244 + In_Frame_Del DEL CTT CTT - TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr11:85375242_85375244delCTT ENST00000527447.1 - 1 902_904 c.676_678delAAG c.(676-678)del p.K226del CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 226 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K226delK(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) TCACGTACTCCTTCTTCTTCAGT 0.665 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 106 --- --- --- --- GNAS 2778 broad.mit.edu 37 20 57429499 57429500 + In_Frame_Ins INS - - GCAGCCCCT TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr20:57429499_57429500insGCAGCCCCT ENST00000371100.4 + 1 1731_1732 c.1179_1180insGCAGCCCCT c.(1177-1182)agcagc>agGCAGCCCCTcagc p.393_393S>RQPL GNAS_ENST00000306120.3_In_Frame_Ins_p.330_330A>GSPS|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_In_Frame_Ins_p.393_393S>RQPL|GNAS_ENST00000371102.4_In_Frame_Ins_p.393_393S>RQPL|GNAS_ENST00000313949.7_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCGCTGCCAGGGCAGCCCCTGC 0.688 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 3 5 --- --- --- --- PIM3 415116 broad.mit.edu 37 22 50354613 50354613 + Frame_Shift_Del DEL C C - TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chr22:50354613delC ENST00000360612.4 + 1 453 c.18delC c.(16-18)ttfs p.F6fs NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN pim-3 oncogene 6 cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) TCTCCAAGTTCGGCTCCCTGG 0.801 2 4 --- --- --- --- FTX 0 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 3 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76937745 76937745 + Frame_Shift_Del DEL T T - TCGA-DU-7298-01A-11D-2024-08 TCGA-DU-7298-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx f04a9dc1-2a7d-464f-9e72-92e2afe0d451 004f58de-822a-4232-8784-e3a1bc15783d g.chrX:76937745delT ENST00000373344.5 - 9 3217 c.3003delA c.(3001-3003)aafs p.K1001fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K963fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1001 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) TTTTAATTACTTTTTTCTTAA 0.338 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 63 109 --- --- --- ---