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 ZNF138 7697 broad.mit.edu 37 7 64291898 64291898 + Missense_Mutation SNP C C T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr7:64291898C>T ENST00000359735.3 + 4 454 c.107C>T c.(106-108)aCa>aTa p.T36I ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.T61I|ZNF138_ENST00000397136.2_Missense_Mutation_p.T36I|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000440155.2_Missense_Mutation_p.T67I|ZNF138_ENST00000307355.7_Missense_Mutation_p.T93I|ZNF138_ENST00000494380.1_3'UTR NM_001271637.1|NM_001271639.1 NP_001258566.1|NP_001258568.1 B4DP87 B4DP87_HUMAN zinc finger protein 138 67 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(1)|large_intestine(3)|lung(2)|stomach(1) 7 Lung NSC(55;0.0795)|all_lung(88;0.18) CAAAAAGTGACACTGAGCAGA 0.368000 15 87 0 0 0.020292 0 0 ACSF3 197322 broad.mit.edu 37 16 89180844 89180844 + Missense_Mutation SNP G G A rs150487794 byFrequency TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr16:89180844G>A ENST00000317447.4 + 6 1452 c.1075G>A c.(1075-1077)Gag>Aag p.E359K ACSF3_ENST00000406948.3_Missense_Mutation_p.E359K|CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Missense_Mutation_p.E94K NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 359 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) TGGCATGACCGAGATCGGCAT 0.637000 4 94 0 0 0.009096 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 5 151 0 0 0.021553 0 0 PCDHA3 0 broad.mit.edu 37 5 140181907 140181907 + Silent SNP C C T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr5:140181907C>T ENST00000522353.2 + 1 1125 c.1125C>T c.(1123-1125)tcC>tcT p.S375S PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S375S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGCGTGTCCGACCGCGACT 0.483000 39 83 0 0 0.086207 0 0 PHB2 11331 broad.mit.edu 37 12 7077659 7077659 + Missense_Mutation SNP C C T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr12:7077659C>T ENST00000535923.1 - 4 673 c.392G>A c.(391-393)cGa>cAa p.R131Q PHB2_ENST00000399433.2_Missense_Mutation_p.R131Q|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.R131Q|PHB2_ENST00000440277.1_Missense_Mutation_p.R131Q|PHB2_ENST00000544134.1_5'UTR NM_001144831.1 NP_001138303.1 Q99623 PHB2_HUMAN prohibitin 2 131 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 CGGCAACACTCGTTCCTCGTA 0.567000 14 38 0 0 0.105934 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 2 3 0 0 0.004672 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 45 0 0 0.004672 0 0 RHOD 29984 broad.mit.edu 37 11 66834308 66834308 + Missense_Mutation SNP T T C TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr11:66834308T>C ENST00000308831.2 + 3 405 c.320T>C c.(319-321)aTc>aCc p.I107T RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.I107T NM_014578.3 NP_055393.1 O00212 RHOD_HUMAN ras homolog family member D 107 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity lung(3) 3 TTTGACAACATCTTTAACCGG 0.607000 49 90 0 0 0.048971 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651754 121651754 + Missense_Mutation SNP C C T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr7:121651754C>T ENST00000393386.2 + 12 3065 c.2654C>T c.(2653-2655)gCt>gTt p.A885V PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 885 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 ACTACTCATGCTGCTTCAGAG 0.473000 3 53 0 0 0.004672 0 0 MYT1 4661 broad.mit.edu 37 20 62839582 62839582 + Nonsense_Mutation SNP G G T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr20:62839582G>T ENST00000536311.1 + 7 1397 c.1033G>T c.(1033-1035)Gag>Tag p.E345* MYT1_ENST00000328439.1_Nonsense_Mutation_p.E345*|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 345 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TGTTATTGTGGAGGTCCGCTC 0.577000 53 98 1.19258e-52 1.38231e-52 0.048971 1 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805993 20805993 + RNA SNP A A G TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr17:20805993A>G ENST00000577537.1 + 0 1177 RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA CGAACCCGTGAGAGCAGCGGC 0.632000 15 0 0 0 0.028581 0 0 LYST 1130 broad.mit.edu 37 1 235964233 235964233 + Missense_Mutation SNP A A C TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr1:235964233A>C ENST00000389794.3 - 9 4051 c.3877T>G c.(3877-3879)Ttt>Gtt p.F1293V LYST_ENST00000389793.2_Missense_Mutation_p.F1293V|LYST_ENST00000536965.1_Missense_Mutation_p.F1293V Q99698 LYST_HUMAN lysosomal trafficking regulator 1293 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAACTCTCAAATACATGGGCA 0.308000 3 56 0 0 0.004672 0 0 GPR162 27239 broad.mit.edu 37 12 6933476 6933476 + Missense_Mutation SNP G G A TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr12:6933476G>A ENST00000311268.3 + 2 1199 c.412G>A c.(412-414)Gtc>Atc p.V138I GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 138 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 ACTGCATGCCGTCATGGGCAT 0.612000 29 118 0 0 0.037714 0 0 PIK3R5 23533 broad.mit.edu 37 17 8789796 8789796 + Missense_Mutation SNP C C T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr17:8789796C>T ENST00000447110.1 - 13 2156 c.2032G>A c.(2032-2034)Gag>Aag p.E678K PIK3R5_ENST00000581552.1_Missense_Mutation_p.E678K|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E677K NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 678 Interaction with G beta gamma proteins (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GGCCTTACCTCGGTCTGATAG 0.667000 7 52 0 0 0.029380 0 0 DNAH17 8632 broad.mit.edu 37 17 76510921 76510921 + Missense_Mutation SNP C C T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr17:76510921C>T ENST00000389840.5 - 26 4160 c.4036G>A c.(4036-4038)Gtg>Atg p.V1346M DNAH17_ENST00000585328.1_Missense_Mutation_p.V1347M dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGCTCGCTCACGGCACGCAGG 0.612000 27 41 0 0 0.030593 0 0 CHRM3 1131 broad.mit.edu 37 1 240071460 240071460 + Missense_Mutation SNP A A G TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr1:240071460A>G ENST00000255380.4 + 5 1488 c.709A>G c.(709-711)Atc>Gtc p.I237V NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 237 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGGCACAGCCATCGCTGCTTT 0.453000 9 114 0 0 0.069234 0 0 VPS72 6944 broad.mit.edu 37 1 151158055 151158055 + Silent SNP C C T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr1:151158055C>T ENST00000354473.4 - 3 348 c.312G>A c.(310-312)ccG>ccA p.P104P VPS72_ENST00000496809.1_5'UTR NM_001271087.1|NM_005997.1 NP_001258016.1|NP_005988.1 Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 104 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGCTACCAGCCGGGGTGTTGA 0.498000 17 194 0 0 0.038395 0 0 LRP1B 53353 broad.mit.edu 37 2 141128328 141128328 + Silent SNP A A G TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr2:141128328A>G ENST00000389484.3 - 71 11930 c.10959T>C c.(10957-10959)gaT>gaC p.D3653D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3653 LDL-receptor class A 29. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATGAATTCCATCACACAGCC 0.393000 TSP Lung(27;0.18) 6 206 0 0 0.029380 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 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 29 32 0 0 0.037714 0 0 SNED1 25992 broad.mit.edu 37 2 241989284 241989284 + Missense_Mutation SNP G G A TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr2:241989284G>A ENST00000310397.8 + 12 1669 c.1669G>A c.(1669-1671)Gat>Aat p.D557N SNED1_ENST00000342631.6_Missense_Mutation_p.D557N|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Missense_Mutation_p.D557N|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.D557N NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 557 EGF-like 7. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) AGGCTCCTGCGATGCCCATGA 0.692000 17 57 0 0 0.049695 0 0 MGAT3 4248 broad.mit.edu 37 22 39883576 39883576 + Missense_Mutation SNP A A G TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr22:39883576A>G ENST00000341184.6 + 2 439 c.224A>G c.(223-225)tAc>tGc p.Y75C NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 75 Pro-rich. post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) ACCCCACTCTACTCCCACTCG 0.672000 23 75 0 0 0.062417 0 0 MMS22L 253714 broad.mit.edu 37 6 97597800 97597800 + Missense_Mutation SNP C C G TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr6:97597800C>G ENST00000275053.4 - 24 3844 c.3579G>C c.(3577-3579)ttG>ttC p.L1193F MMS22L_ENST00000369251.2_Missense_Mutation_p.L1153F NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 1193 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 GGGTAGAAATCAAGTGGATGA 0.408000 3 45 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7577105 7577105 + Missense_Mutation SNP G G A TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr17:7577105G>A ENST00000420246.2 - 8 965 c.833C>T c.(832-834)cCt>cTt p.P278L TP53_ENST00000455263.2_Missense_Mutation_p.P278L|TP53_ENST00000269305.4_Missense_Mutation_p.P278L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278L|TP53_ENST00000445888.2_Missense_Mutation_p.P278L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 278 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GTCTCTCCCAGGACAGGCACA 0.552000 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) 37 8 0 0 0.059317 0 0 TRIM51HP 0 broad.mit.edu 37 11 55065705 55065705 + RNA SNP G G A TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr11:55065705G>A ENST00000526016.1 - 0 3 NR_038174.2 GATGGGACAGGTGAGTTCCCT 0.483000 4 81 0 0 0.021553 0 0 CRISP2 7180 broad.mit.edu 37 6 49663637 49663637 + Splice_Site SNP A A G TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr6:49663637A>G ENST00000339139.4 - 9 752 c.515_splice c.e9-1 p.A172_splice NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 172 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TATTATTACCACTGAAATTTG 0.348000 12 25 0 0 0.080935 0 0 PRKAR1B 5575 broad.mit.edu 37 7 751125 751125 + Silent SNP G G C TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr7:751125G>C ENST00000406797.1 - 2 192 c.18C>G c.(16-18)gcC>gcG p.A6A PRKAR1B_ENST00000360274.4_Silent_p.A6A|PRKAR1B_ENST00000488474.1_5'UTR|PRKAR1B_ENST00000537384.1_Silent_p.A6A|PRKAR1B_ENST00000403562.1_Silent_p.A6A|PRKAR1B_ENST00000544935.1_Silent_p.A6A NM_001164761.1 NP_001158233.1 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type I, beta 6 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1) 17 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CCGAGGGGCAGGCGGGCGGGG 0.647000 9 63 0 0 0.058154 0 0 GALE 2582 broad.mit.edu 37 1 24124673 24124673 + Silent SNP G G A TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr1:24124673G>A ENST00000374497.3 - 5 376 c.285C>T c.(283-285)ggC>ggT p.G95G NM_000403.3|NM_001008216.1|NM_001127621.1 NP_000394.2|NP_001008217.1|NP_001121093.1 Q14376 GALE_HUMAN UDP-galactose-4-epimerase 95 galactose catabolic process cytosol coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) GCACCGACTCGCCCACGGCCT 0.557000 22 44 0 0 0.091800 0 0 NSDHL 50814 broad.mit.edu 37 X 152034375 152034375 + Missense_Mutation SNP G G A TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chrX:152034375G>A ENST00000370274.3 + 6 750 c.556G>A c.(556-558)Gcc>Acc p.A186T NSDHL_ENST00000440023.1_Missense_Mutation_p.A186T NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 186 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) AGTTCTGGGCGCCAACGATCC 0.582000 4 89 0 0 0.009096 0 0 MMEL1 79258 broad.mit.edu 37 1 2526254 2526254 + Missense_Mutation SNP G G T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr1:2526254G>T ENST00000288709.6 - 17 1876 c.1636C>A c.(1636-1638)Ctt>Att p.L546I MMEL1_ENST00000502556.1_Missense_Mutation_p.L398I|MMEL1_ENST00000378412.3_Missense_Mutation_p.L555I NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 555 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) TTTTCCCGAAGCTTCCTGAGG 0.627000 4 68 2.56e-06 2.90133e-06 0.009096 1 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 44 0 0 0.004672 0 0 SSPO 23145 broad.mit.edu 37 7 149489167 149489167 + RNA SNP G G A TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr7:149489167G>A ENST00000378016.2 + 0 5412 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTTGCCCTCAGGACGGCTGCC 0.627000 32 49 0 0 0.069456 0 0 CD300LG 146894 broad.mit.edu 37 17 41926022 41926022 + Missense_Mutation SNP G G A rs115182680 by1000genomes TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr17:41926022G>A ENST00000317310.4 + 2 181 c.140G>A c.(139-141)cGg>cAg p.R47Q CD300LG_ENST00000586233.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.R47Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.R47Q|CD300LG_ENST00000588884.1_Missense_Mutation_p.R47Q NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 47 Ig-like V-type. apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) AGGGACCACCGGAAGTACTGG 0.577000 5 78 0 0 0.014758 0 0 PRAMEF7 441871 broad.mit.edu 37 1 12979789 12979789 + Missense_Mutation SNP G G T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr1:12979789G>T ENST00000361079.2 + 4 1064 c.981G>T c.(979-981)agG>agT p.R327S PRAME family member 7 endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGACCTGAGGGGTGTCACGC 0.572000 9 163 0.00621372 0.00674254 0.058154 1 0 SLC25A21 89874 broad.mit.edu 37 14 37198737 37198737 + Missense_Mutation SNP C C T TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr14:37198737C>T ENST00000331299.5 - 5 820 c.305G>A c.(304-306)gGa>gAa p.G102E SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 102 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TGACACATATCCCAGCAATTT 0.318000 11 17 0 0 0.093190 0 0 MTIF2 4528 broad.mit.edu 37 2 55479696 55479696 + Missense_Mutation SNP T T C TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr2:55479696T>C ENST00000394600.3 - 9 1494 c.758A>G c.(757-759)gAc>gGc p.D253G MTIF2_ENST00000263629.4_Missense_Mutation_p.D253G|MTIF2_ENST00000403721.1_Missense_Mutation_p.D253G NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 253 G-domain. regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 TACGACAATGTCAGTGACCTG 0.463000 37 58 0 0 0.039052 0 0 MFHAS1 9258 broad.mit.edu 37 8 8654899 8654899 + Missense_Mutation SNP G G A TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr8:8654899G>A ENST00000276282.6 - 2 3687 c.3101C>T c.(3100-3102)cCg>cTg p.P1034L MFHAS1_ENST00000520091.1_5'UTR NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 1034 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GATCACAGTCGGCGTGGGTGG 0.557000 20 26 0 0 0.055883 0 0 RERE 473 broad.mit.edu 37 1 8716199 8716200 + Frame_Shift_Del DEL CT CT - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr1:8716199_8716200delCT ENST00000337907.3 - 3 791_792 c.157_158delAG c.(157-159)tfs p.S53fs RERE_ENST00000400907.2_Frame_Shift_Del_p.S53fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.S53fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 53 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ACTGTGATCACTCTCAGCATAA 0.465 115 286 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201047179 201047181 + In_Frame_Del DEL TCT TCT - rs9333651 TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr1:201047179_201047181delTCT ENST00000362061.3 - 11 1671_1673 c.1445_1447delAGA c.(1444-1449)atg>a p.KM482del CACNA1S_ENST00000367338.3_In_Frame_Del_p.KM482del NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 482 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGCCCGTACATCTTCATCAGCAT 0.571 37 70 --- --- --- --- OBSL1 23363 broad.mit.edu 37 2 220428315 220428316 + Frame_Shift_Del DEL AT AT - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr2:220428315_220428316delAT ENST00000404537.1 - 7 2497_2498 c.2441_2442delAT c.(2440-2442)cfs p.H814fs OBSL1_ENST00000373876.1_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.H401fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.H814fs NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 814 Ig-like 6. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCACGAACACATGTTCTCGGGG 0.594 67 99 --- --- --- --- CCDC6 8030 broad.mit.edu 37 10 61612347 61612349 + In_Frame_Del DEL TTC TTC - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr10:61612347_61612349delTTC ENST00000263102.6 - 2 646_648 c.415_417delGAA c.(415-417)del p.E139del NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 139 5 X 29 AA tandem repeats. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton p.E139delE(1) CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) TAGTGAGGAATTCTTCTTCTTTC 0.360 T RET NSCLC 31 65 --- --- --- --- PCDH9 5101 broad.mit.edu 37 13 67801664 67801665 + Frame_Shift_Del DEL AA AA - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr13:67801664_67801665delAA ENST00000544246.1 - 2 1599_1600 c.908_909delTT c.(907-909)tfs p.F303fs PCDH9_ENST00000328454.5_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000377861.3_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000456367.1_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000377865.2_Frame_Shift_Del_p.F303fs NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 303 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TATTTAAAGCAAAGAGTCTTTT 0.465 37 62 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320135 90320146 + In_Frame_Del DEL GGGCAGGGGCAG GGGCAGGGGCAG - rs56192595 by1000genomes TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr15:90320135_90320146delGGGCAGGGGCAG ENST00000341735.3 + 1 547_558 c.547_558delGGGCAGGGGCAG c.(547-558)del p.GQGQ199del MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 199 13 X 2 AA tandem repeats of G-Q. Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) gcaggggcaagggcaggggcaggggcaggggc 0.783 5 6 --- --- --- --- ZC3H7A 29066 broad.mit.edu 37 16 11864798 11864799 + Frame_Shift_Del DEL GA GA - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr16:11864798_11864799delGA ENST00000396516.2 - 9 1145_1146 c.948_949delTC c.(946-951)tcctfs p.SP316fs ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.SP316fs Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 316 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 GGCATGCTAGGAGAGACACTGG 0.485 29 80 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29541467 29541468 + Splice_Site DEL AG AG - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr17:29541467_29541468delAG ENST00000358273.4 + 13 1775 c.e13-1 NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(5) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTTTGTTTTTAGAGTCTTACAT 0.292 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 11 21 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29576134 29576134 + Frame_Shift_Del DEL C C - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr17:29576134delC ENST00000358273.4 + 30 4490 c.4107delC c.(4105-4107)tafs p.Y1369fs NF1_ENST00000356175.3_Frame_Shift_Del_p.Y1369fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1369 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACTGTTTATACCAGGTATGCT 0.403 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 22 93 --- --- --- --- MED13 9969 broad.mit.edu 37 17 60140577 60140579 + In_Frame_Del DEL TCT TCT - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr17:60140577_60140579delTCT ENST00000397786.2 - 2 226_228 c.150_152delAGA c.(148-153)gac>ga p.ED50del NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 50 androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CAAAATGGGGTCTTCTTCTGTCA 0.443 12 140 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48198169 48198171 + In_Frame_Del DEL ATC ATC - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr19:48198169_48198171delATC ENST00000396720.3 + 9 3102_3104 c.2908_2910delATC c.(2908-2910)del p.I971del CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 971 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GCCGTCCGGAATCATCCTCCAGA 0.680 8 39 --- --- --- --- SMARCB1 6598 broad.mit.edu 37 22 24175836 24175837 + Frame_Shift_Del DEL CT CT - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chr22:24175836_24175837delCT ENST00000344921.6 + 8 1298_1299 c.1091_1092delCT c.(1090-1092)afs p.T364fs SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.T309fs|SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.T346fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.T355fs Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 355 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2)|p.L266_*386del(1) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) CTGCTGGAGACTCTGACAGACG 0.634 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 13 131 --- --- --- --- SLC35A2 7355 broad.mit.edu 37 X 48762551 48762552 + Frame_Shift_Del DEL GA GA - TCGA-DU-7299-01A-21D-2024-08 TCGA-DU-7299-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23a9a0b4-0a13-4e5b-941b-8174a1c8f301 ee7cefc3-bfbf-4b30-9509-c7b6084b33d4 g.chrX:48762551_48762552delGA ENST00000376521.1 - 4 955_956 c.634_635delTC c.(634-636)cfs p.S213fs SLC35A2_ENST00000247138.5_Frame_Shift_Del_p.S213fs|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.S241fs|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.S152fs|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376529.3_Intron NM_001042498.2 NP_001035963.1 P78381 S35A2_HUMAN solute carrier family 35 (UDP-galactose transporter), member A2 213 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 GAAGCCGGAGGAGAGACAGGAG 0.649 5 5 --- --- --- ---