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 JAM2 58494 broad.mit.edu 37 21 27062196 27062196 + Missense_Mutation SNP A A G TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr21:27062196A>G ENST00000480456.1 + 3 702 c.152A>G c.(151-153)aAa>aGa p.K51R JAM2_ENST00000400532.1_Missense_Mutation_p.K51R|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000312957.5_Missense_Mutation_p.K51R NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 51 Ig-like V-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 TTAGCCTGCAAAACCCCAAAG 0.368000 42 67 0 0 0.859065 0 0 CLPSL1 340204 broad.mit.edu 37 6 35754868 35754868 + Missense_Mutation SNP G G T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr6:35754868G>T ENST00000373861.5 + 2 287 c.193G>T c.(193-195)Ggg>Tgg p.G65W CLPSL1_ENST00000542261.1_Missense_Mutation_p.G64W A2RUU4 CF127_HUMAN colipase-like 1 65 digestion|lipid catabolic process extracellular region enzyme activator activity CGCGGAGAAGGGGTCCGAGGG 0.657000 4 16 0.014758 0.0153483 0.184627 1 0 MYH3 4621 broad.mit.edu 37 17 10554966 10554966 + Missense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr17:10554966C>T ENST00000583535.1 - 5 455 c.368G>A c.(367-369)tGt>tAt p.C123Y MYH3_ENST00000226209.7_Missense_Mutation_p.C123Y NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 123 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GACAGTGACACAGAAGAGGCC 0.498000 38 73 0 0 0.834066 0 0 CLCN3 0 broad.mit.edu 37 4 170601232 170601232 + Silent SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr4:170601232C>T ENST00000513761.1 + 3 751 c.192C>T c.(190-192)agC>agT p.S64S CLCN3_ENST00000360642.3_Silent_p.S64S|CLCN3_ENST00000504131.2_Silent_p.S47S|CLCN3_ENST00000347613.4_Silent_p.S64S NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 64 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) ATGGAGGCAGCATTAACAGTT 0.368000 17 39 0 0 0.557998 0 0 FYB 2533 broad.mit.edu 37 5 39202453 39202453 + Silent SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr5:39202453G>A ENST00000351578.6 - 2 800 c.610C>T c.(610-612)Cta>Tta p.L204L FYB_ENST00000505428.1_Silent_p.L204L|FYB_ENST00000540520.1_Silent_p.L214L|FYB_ENST00000515010.1_Silent_p.L204L|FYB_ENST00000512982.1_Silent_p.L204L NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 204 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TCGGTACTTAGGGGCGGCTTC 0.532000 33 37 0 0 0.788014 0 0 CXCL9 4283 broad.mit.edu 37 4 76927403 76927403 + Missense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr4:76927403C>T ENST00000264888.5 - 2 127 c.89G>A c.(88-90)cGc>cAc p.R30H NM_002416.1 NP_002407.1 Q07325 CXCL9_HUMAN chemokine (C-X-C motif) ligand 9 30 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GCAGGAACAGCGACCCTTTCT 0.433000 39 94 0 0 0.796494 0 0 DSCAM 1826 broad.mit.edu 37 21 41711192 41711192 + Missense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr21:41711192C>T ENST00000400454.1 - 7 1838 c.1361G>A c.(1360-1362)cGc>cAc p.R454H NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 454 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTGGCTGATGCGGTGACTGCC 0.602000 3 42 0 0 0.115264 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075437 76075437 + RNA SNP G G A rs62028907 by1000genomes TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr15:76075437G>A ENST00000395215.3 + 0 1077 AAGACGCTACGGGAGCAGGGT 0.607000 5 176 0 0 0.217242 0 0 SOX7 83595 broad.mit.edu 37 8 10587872 10587872 + Silent SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr8:10587872C>T ENST00000304501.1 - 1 150 c.72G>A c.(70-72)tcG>tcA p.S24S CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000554914.1_Intron|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 24 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) ATTGTCCATCCGACAGCTCGG 0.721000 4 12 0 0 0.150653 0 0 OTOA 146183 broad.mit.edu 37 16 21702976 21702976 + Missense_Mutation SNP C C G TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr16:21702976C>G ENST00000388958.3 + 8 708 c.707C>G c.(706-708)aCt>aGt p.T236S OTOA_ENST00000388956.4_Missense_Mutation_p.T157S|OTOA_ENST00000286149.4_Missense_Mutation_p.T236S NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 236 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TCCTGGATGACTGGAATACTG 0.468000 14 30 0 0 0.520397 0 0 CRHR2 1395 broad.mit.edu 37 7 30695575 30695575 + Silent SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr7:30695575G>A ENST00000471646.1 - 9 1302 c.885C>T c.(883-885)cgC>cgT p.R295R CRHR2_ENST00000348438.4_Silent_p.R322R|CRHR2_ENST00000506074.2_Silent_p.R295R|CRHR2_ENST00000341843.4_Silent_p.R281R NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 295 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGGTGGACGCGCGTAACTTTG 0.552000 36 65 0 0 0.827153 0 0 PCNT 5116 broad.mit.edu 37 21 47845846 47845846 + Silent SNP C C T rs138588682 TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr21:47845846C>T ENST00000359568.5 + 33 7388 c.7281C>T c.(7279-7281)gaC>gaT p.D2427D PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2427 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GGAAGGAAGACGAGATACAGG 0.552000 21 63 0 0 0.639603 0 0 ZNF333 84449 broad.mit.edu 37 19 14828520 14828520 + Missense_Mutation SNP A A C TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr19:14828520A>C ENST00000292530.6 + 11 966 c.875A>C c.(874-876)gAg>gCg p.E292A ZNF333_ENST00000536363.1_Missense_Mutation_p.E183A|ZNF333_ENST00000540689.2_Missense_Mutation_p.E292A NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 ACTTTTACAGAGATCCTGTCC 0.418000 24 37 0 0 0.667858 0 0 SEC24D 9871 broad.mit.edu 37 4 119736623 119736623 + Missense_Mutation SNP C C A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr4:119736623C>A ENST00000379735.5 - 5 927 c.656G>T c.(655-657)gGa>gTa p.G219V SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.G219V NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 219 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding p.G219V(1) breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CGGAGGATATCCAGCACCCAA 0.557000 21 36 3.62473e-10 3.82066e-10 0.608945 1 0 MTRR 4552 broad.mit.edu 37 5 7875377 7875377 + Missense_Mutation SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr5:7875377G>A ENST00000264668.2 + 4 401 c.371G>A c.(370-372)gGt>gAt p.G124D MTRR_ENST00000440940.2_Missense_Mutation_p.G97D|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000341013.6_Missense_Mutation_p.V46M NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 124 Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CTAGGTCTCGGTGATTCAGAA 0.348000 43 75 0 0 0.853193 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076923 57076923 + Missense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr11:57076923C>T ENST00000532437.1 - 5 3573 c.3262G>A c.(3262-3264)Ggt>Agt p.G1088S TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1088S Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1088 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTAAACTCACCGACCCAGCCT 0.642000 15 42 0 0 0.457914 0 0 ANXA1 301 broad.mit.edu 37 9 75773611 75773611 + Splice_Site SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr9:75773611C>T ENST00000376911.1 + 2 949 c.66_splice c.e2-1 p.Q23_splice ANXA1_ENST00000257497.6_Splice_Site_p.Q23_splice P04083 ANXA1_HUMAN annexin A1 23 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) TCATTCTTAGCAAACTGTGAA 0.373000 8 29 0 0 0.278610 0 0 TRGC2 0 broad.mit.edu 37 7 38282029 38282029 + RNA SNP C C A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr7:38282029C>A ENST00000436911.2 - 0 425 AAAAGCTTACCATTTGCATCT 0.408000 44 103 6.68952e-21 7.24698e-21 0.864702 1 0 ENAM 10117 broad.mit.edu 37 4 71509397 71509397 + Missense_Mutation SNP G G T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr4:71509397G>T ENST00000396073.3 + 9 2535 c.2254G>T c.(2254-2256)Gct>Tct p.A752S ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 752 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel p.A752T(1) haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TAATAATGCCGCTGGACCAGA 0.453000 33 64 3.67414e-24 4.03638e-24 0.760397 1 0 OR5T3 390154 broad.mit.edu 37 11 56020051 56020051 + Missense_Mutation SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr11:56020051G>A ENST00000303059.3 + 1 376 c.376G>A c.(376-378)Gga>Aga p.G126R NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TTCATTTATCGGATGTGCAAC 0.363000 52 95 0 0 0.870114 0 0 GPRC5C 0 broad.mit.edu 37 17 72436710 72436710 + Silent SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr17:72436710C>T ENST00000392627.1 + 2 2056 c.930C>T c.(928-930)taC>taT p.Y310Y GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Silent_p.Y277Y NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 265 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 TGTATACTTACGGCAACAAGC 0.607000 11 42 0 0 0.435327 0 0 PRSS3P2 0 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 6 95 0 0 0.217242 0 0 EGFR 1956 broad.mit.edu 37 7 55221711 55221711 + Missense_Mutation SNP G G C TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr7:55221711G>C ENST00000275493.2 + 7 932 c.755G>C c.(754-756)cGc>cCc p.R252P EGFR_ENST00000455089.1_Missense_Mutation_p.R207P|EGFR_ENST00000454757.2_Missense_Mutation_p.R199P|EGFR_ENST00000442591.1_Missense_Mutation_p.R252P|EGFR_ENST00000342916.3_Missense_Mutation_p.R252P|EGFR_ENST00000420316.2_Missense_Mutation_p.R252P|EGFR_ENST00000344576.2_Missense_Mutation_p.R252P NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 252 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TAGGTCTGCCGCAAATTCCGA 0.587000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 877 231 0 0 0.870114 0 0 HLA-V 0 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 4 16 0 0 0.184627 0 0 TRPA1 8989 broad.mit.edu 37 8 72987644 72987644 + Translation_Start_Site SNP T T C TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr8:72987644T>C ENST00000262209.4 - 1 208 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 1 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CTGCGCTTCATTGACCCCACC 0.667000 22 42 0 0 0.608945 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 43 0 0 0.217242 0 0 EEF1A2 1917 broad.mit.edu 37 20 62127281 62127281 + Missense_Mutation SNP C C G TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr20:62127281C>G ENST00000217182.3 - 3 417 c.252G>C c.(250-252)aaG>aaC p.K84N EEF1A2_ENST00000298049.7_Missense_Mutation_p.K84N NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 84 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) TGATGTAGTACTTGGTGGTCT 0.592000 OREG0026129 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 87 0 0 0.217242 0 0 GCNT1 2650 broad.mit.edu 37 9 79117864 79117864 + Silent SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr9:79117864G>A ENST00000442371.1 + 3 1506 c.567G>A c.(565-567)tcG>tcA p.S189S GCNT1_ENST00000376730.4_Silent_p.S189S|GCNT1_ENST00000444201.2_Silent_p.S189S|GCNT1_ENST00000536223.1_Silent_p.S189S NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 189 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 TTTATGCATCGTGGAGCCGGG 0.458000 24 54 0 0 0.654019 0 0 PCDHB4 0 broad.mit.edu 37 5 140503168 140503168 + Missense_Mutation SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr5:140503168G>A ENST00000194152.1 + 1 1588 c.1588G>A c.(1588-1590)Gtg>Atg p.V530M NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 530 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGTTCCGCGTGGGCGCCTC 0.672000 32 73 0 0 0.769981 0 0 PPP3CB 5532 broad.mit.edu 37 10 75204477 75204477 + Missense_Mutation SNP C C G TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr10:75204477C>G ENST00000342558.3 - 12 1478 c.1372G>C c.(1372-1374)Gat>Cat p.D458H PPP3CB_ENST00000394822.2_Missense_Mutation_p.D476H|PPP3CB_ENST00000394828.2_Intron|PPP3CB_ENST00000544628.1_Intron|PPP3CB_ENST00000394829.2_Intron|PPP3CB_ENST00000360663.5_Intron|PPP3CB_ENST00000545874.1_Missense_Mutation_p.D373H P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta isozyme 0 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) TGCATAACATCATTACCACTT 0.493000 10 7 0 0 0.335167 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736404 12736404 + Silent SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chrX:12736404C>T ENST00000380682.1 + 16 3965 c.3459C>T c.(3457-3459)gaC>gaT p.D1153D NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1153 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TCTTAACTGACGTGACCTGTG 0.552000 84 32 0 0 0.870114 0 0 ASNS 440 broad.mit.edu 37 7 97498435 97498435 + Missense_Mutation SNP C C G TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr7:97498435C>G ENST00000175506.4 - 4 562 c.34G>C c.(34-36)Gat>Cat p.D12H ASNS_ENST00000394309.3_Missense_Mutation_p.D12H|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.D12H|ASNS_ENST00000422745.1_Intron|ASNS_ENST00000444334.1_Intron NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 12 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAAAGGCAATCATCACTGCCA 0.418000 15 74 0 0 0.539581 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57989814 57989814 + Splice_Site SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr12:57989814G>A ENST00000354947.5 + 4 529 c.513_splice c.e4+1 p.Q171_splice PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Splice_Site_p.Q171_splice|PIP4K2C_ENST00000550465.1_Splice_Site_p.Q153_splice Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 171 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) ACTATCACCAGGTCAGGCCTC 0.478000 37 59 0 0 0.834066 0 0 NLRP4 147945 broad.mit.edu 37 19 56369014 56369014 + Missense_Mutation SNP C C G TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr19:56369014C>G ENST00000587891.1 + 1 204 c.30C>G c.(28-30)ttC>ttG p.F10L NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000301295.6_Intron Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 0 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGTGGGTTTTCTCTCCTCTTG 0.473000 16 40 0 0 0.539581 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73434466 73434466 + Nonsense_Mutation SNP G G C TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr4:73434466G>C ENST00000286657.4 - 1 50 c.14C>G c.(13-15)tCa>tGa p.S5* NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 5 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CAACCAAAGTGACAGGAGAAC 0.448000 14 22 0 0 0.539581 0 0 TGM3 7053 broad.mit.edu 37 20 2321165 2321165 + Missense_Mutation SNP G G A rs140423684 TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr20:2321165G>A ENST00000381458.5 + 13 2083 c.2020G>A c.(2020-2022)Gac>Aac p.D674N NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 674 D -> G (in Ref. 2; BAF84040). cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) ACTGCTCGCCGACTTCTCCTG 0.602000 29 64 0 0 0.706142 0 0 CCDC64B 146439 broad.mit.edu 37 16 3085393 3085393 + Silent SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr16:3085393G>A ENST00000572449.1 - 2 167 c.105C>T c.(103-105)gaC>gaT p.D35D CCDC64B_ENST00000389347.4_Silent_p.D35D|RP11-473M20.5_ENST00000382225.3_RNA A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 35 breast(1)|endometrium(2)|large_intestine(1) 4 CCAGGAATGAGTCCCGCCGCT 0.692000 5 10 0 0 0.184627 0 0 G6PC 2538 broad.mit.edu 37 17 41059630 41059630 + Missense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr17:41059630C>T ENST00000253801.2 + 3 510 c.431C>T c.(430-432)cCg>cTg p.P144L G6PC_ENST00000585489.1_Missense_Mutation_p.P144L|G6PC_ENST00000592383.1_Silent_p.A118A NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 144 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) AAGATAAAGCCGACCTACAGA 0.527000 12 19 0 0 0.457914 0 0 CIB2 10518 broad.mit.edu 37 15 78398161 78398161 + Silent SNP C C T rs117153558 byFrequency TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr15:78398161C>T ENST00000258930.3 - 5 790 c.462G>A c.(460-462)gaG>gaA p.E154E CIB2_ENST00000557846.1_Silent_p.E105E|CIB2_ENST00000539011.1_Silent_p.E111E|CIB2_ENST00000560618.1_Silent_p.E111E NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 154 EF-hand 3. calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 AGTCAGCCTCCTCAATGACCT 0.592000 3 59 0 0 0.150653 0 0 TNNI1 7135 broad.mit.edu 37 1 201384346 201384346 + Silent SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr1:201384346G>A ENST00000361379.4 - 4 144 c.52C>T c.(52-54)Ctg>Ttg p.L18L TNNI1_ENST00000367312.1_Silent_p.L18L|TNNI1_ENST00000336092.4_Silent_p.L18L|TNNI1_ENST00000555948.1_Silent_p.L18L NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 18 Involved in binding TNC. muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 CTCACCTTCAGCAAGAGTTTG 0.582000 7 23 0 0 0.278610 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 35 0 0 0.115264 0 0 MRVI1 10335 broad.mit.edu 37 11 10622600 10622600 + Missense_Mutation SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr11:10622600G>A ENST00000547195.1 - 14 2109 c.1609C>T c.(1609-1611)Cgc>Tgc p.R537C MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1_ENST00000436272.1_Missense_Mutation_p.R601C|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C|MRVI1_ENST00000424001.1_Missense_Mutation_p.R313C NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 601 Interaction with ITPR1 (By similarity). platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TTCGACATGCGCTTTTCCTGC 0.507000 67 133 0 0 0.870114 0 0 PCDHA5 0 broad.mit.edu 37 5 140202819 140202819 + Missense_Mutation SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr5:140202819G>A ENST00000529859.1 + 1 1459 c.1459G>A c.(1459-1461)Gcc>Acc p.A487T PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A487T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A487T 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) GCAGGAGAACGCCCTGGTGTC 0.662000 32 63 0 0 0.847076 0 0 GRM4 2914 broad.mit.edu 37 6 33996019 33996019 + Missense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr6:33996019C>T ENST00000374181.3 - 9 2736 c.2567G>A c.(2566-2568)cGc>cAc p.R856H GRM4_ENST00000538487.1_Missense_Mutation_p.R856H|GRM4_ENST00000544773.1_Missense_Mutation_p.R687H|GRM4_ENST00000545715.1_Missense_Mutation_p.R548H|GRM4_ENST00000535756.1_Missense_Mutation_p.R723H|GRM4_ENST00000374177.3_Missense_Mutation_p.R740H|GRM4_ENST00000455714.2_Missense_Mutation_p.R716H NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 856 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GCTGCGCTTGCGCTTGGGCAC 0.602000 18 48 0 0 0.557998 0 0 NUMA1 0 broad.mit.edu 37 11 71725528 71725528 + Silent SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr11:71725528C>T ENST00000393695.3 - 15 3352 c.3021G>A c.(3019-3021)gcG>gcA p.A1007A NUMA1_ENST00000358965.6_Silent_p.A1007A|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1007 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GGGTCAGCCGCGCCACCTCCC 0.687000 T RARA APL 31 71 0 0 0.760397 0 0 FER1L6 654463 broad.mit.edu 37 8 125082819 125082819 + Nonsense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr8:125082819C>T ENST00000522917.1 + 30 4152 c.3946C>T c.(3946-3948)Cga>Tga p.R1316* FER1L6_ENST00000399018.1_Nonsense_Mutation_p.R1316*|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1316 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGATGGAGACCGAGTCATAGG 0.398000 49 86 0 0 0.870114 0 0 DCHS2 54798 broad.mit.edu 37 4 155287390 155287390 + Silent SNP C C T rs78251264 byFrequency TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr4:155287390C>T ENST00000357232.3 - 5 665 c.666G>A c.(664-666)tcG>tcA p.S222S DCHS2_ENST00000339452.1_Silent_p.S816S NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 222 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TAAAAAGGGACGACACGTTTC 0.448000 6 46 0 0 0.217242 0 0 ADCY10 55811 broad.mit.edu 37 1 167791265 167791265 + Missense_Mutation SNP A A T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr1:167791265A>T ENST00000367848.1 - 30 4504 c.4007T>A c.(4006-4008)aTc>aAc p.I1336N ADCY10_ENST00000367851.4_Missense_Mutation_p.I1428N|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1275N Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1428 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TTGTTACCAGATAGCTACAGA 0.353000 14 34 0 0 0.520397 0 0 DCHS2 54798 broad.mit.edu 37 4 155254333 155254333 + Silent SNP C C A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr4:155254333C>A ENST00000357232.3 - 9 1529 c.1530G>T c.(1528-1530)ggG>ggT p.G510G DCHS2_ENST00000339452.1_Silent_p.G1009G|DCHS2_ENST00000507542.1_5'UTR NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 510 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTCCGTTCCGCCCACTGTCTC 0.632000 3 27 0.115264 0.118297 0.115264 1 0 SLC19A1 6573 broad.mit.edu 37 21 46951525 46951525 + Silent SNP G G T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr21:46951525G>T ENST00000311124.4 - 3 879 c.727C>A c.(727-729)Cgg>Agg p.R243R SLC19A1_ENST00000567670.1_Silent_p.R243R|SLC19A1_ENST00000485649.2_Silent_p.R203R|SLC19A1_ENST00000380010.4_Silent_p.R243R NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 243 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) CAGGCCACCCGCAGGGCGTGT 0.706000 22 38 3.7963e-18 4.05633e-18 0.654019 1 0 ARHGEF16 27237 broad.mit.edu 37 1 3394457 3394457 + Missense_Mutation SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr1:3394457G>A ENST00000378378.4 + 11 1897 c.1492G>A c.(1492-1494)Gcc>Acc p.A498T ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A202T|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A210T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A210T NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 498 activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) ACTGATCTCTGCCTCCCGGTG 0.622000 20 51 0 0 0.624587 0 0 HGD 3081 broad.mit.edu 37 3 120360508 120360508 + Silent SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr3:120360508G>A ENST00000283871.5 - 11 1266 c.807C>T c.(805-807)caC>caT p.H269H NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 269 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) TATAATTCCCGTGCCAGGCCA 0.438000 19 60 0 0 0.592651 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 91 0 0 0.184627 0 0 SAMD14 201191 broad.mit.edu 37 17 48193445 48193445 + Missense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr17:48193445C>T ENST00000330175.4 - 5 826 c.509G>A c.(508-510)cGt>cAt p.R170H SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R170H NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 170 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 ACTGGCGTCACGGCTGTCATC 0.602000 13 28 0 0 0.457914 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368978 86368978 + Missense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr13:86368978C>T ENST00000400286.2 - 2 2264 c.1666G>A c.(1666-1668)Gaa>Aaa p.E556K NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 556 LRRCT 2. integral to membrane p.E556K(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GCTTTCAATTCCTTTTTGTCG 0.453000 37 57 0 0 0.827153 0 0 DDX4 54514 broad.mit.edu 37 5 55063741 55063741 + Missense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr5:55063741C>T ENST00000505374.1 + 7 459 c.367C>T c.(367-369)Cgg>Tgg p.R123W DDX4_ENST00000353507.5_Missense_Mutation_p.R123W|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000354991.5_Missense_Mutation_p.R123W|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000511853.1_Missense_Mutation_p.R24W|DDX4_ENST00000514278.2_Intron NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 123 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TAATCCAACACGGAACAGAGG 0.333000 17 38 0 0 0.624587 0 0 POF1B 79983 broad.mit.edu 37 X 84600916 84600916 + Missense_Mutation SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chrX:84600916G>A ENST00000262753.4 - 6 818 c.673C>T c.(673-675)Cat>Tat p.H225Y POF1B_ENST00000373145.3_Missense_Mutation_p.H225Y NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 225 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TTTCCAATATGTGTAGAAATT 0.418000 6 70 0 0 0.248553 0 0 WIF1 11197 broad.mit.edu 37 12 65460502 65460502 + Nonsense_Mutation SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr12:65460502G>A ENST00000286574.4 - 6 1023 c.649C>T c.(649-651)Cga>Tga p.R217* NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 217 EGF-like 2. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TTCATACATCGTGGGGTACAA 0.428000 T HMGA2 pleomorphic salivary gland adenoma 6 28 0 0 0.217242 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47423551 47423551 + Missense_Mutation SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr19:47423551G>A ENST00000404338.3 + 1 1619 c.1619G>A c.(1618-1620)cGt>cAt p.R540H NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 540 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CAAGCAGAGCGTGATGCCCTT 0.483000 49 100 0 0 0.870114 0 0 TSKS 60385 broad.mit.edu 37 19 50249906 50249906 + Silent SNP G G A TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr19:50249906G>A ENST00000246801.3 - 6 895 c.813C>T c.(811-813)aaC>aaT p.N271N TSKS_ENST00000358830.3_Silent_p.N71N NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 271 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GGCCCAGGCTGTTCCAGGAGA 0.731000 3 23 0 0 0.150653 0 0 ADAM28 10863 broad.mit.edu 37 8 24187575 24187575 + Silent SNP C C T rs151133749 byFrequency TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr8:24187575C>T ENST00000265769.4 + 11 1160 c.1050C>T c.(1048-1050)gaC>gaT p.D350D ADAM28_ENST00000397649.3_Silent_p.D97D|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Silent_p.D350D|ADAM28_ENST00000540823.1_Silent_p.D117D|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 350 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TGTTTCATGACGACTATTCTT 0.453000 31 61 0 0 0.729181 0 0 WASF3 10810 broad.mit.edu 37 13 27257045 27257045 + Missense_Mutation SNP C C T TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr13:27257045C>T ENST00000361042.4 + 9 1501 c.1276C>T c.(1276-1278)Cgg>Tgg p.R426W WASF3_ENST00000335327.5_Missense_Mutation_p.R429W Q9UPY6 WASF3_HUMAN WAS protein family, member 3 429 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TGAGGCGAAGCGGCAAGAGCC 0.647000 27 34 0 0 0.769981 0 0 SOHLH2 54937 broad.mit.edu 37 13 36764136 36764136 + Silent SNP G G A rs144665592 byFrequency TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr13:36764136G>A ENST00000379881.3 - 6 676 c.588C>T c.(586-588)ttC>ttT p.F196F SOHLH2_ENST00000317764.6_Silent_p.F196F|SOHLH2_ENST00000554962.1_Silent_p.F273F|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.F273F NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 p.F196F(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) TGTTTTTCTCGAACTCTGACA 0.333000 23 26 0 0 0.667858 0 0 REN 5972 broad.mit.edu 37 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - rs142739309 TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr1:204135375_204135377delAGC ENST00000367195.2 - 1 88_90 c.45_47delGCT c.(43-48)ctc>ct p.LL15del REN_ENST00000272190.8_In_Frame_Del_p.LL15del P00797 RENI_HUMAN renin 15 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) GGAGCCCCAGAGCAGCAGCAGCA 0.581 9 1700 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 18 196 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36590446 36590447 + In_Frame_Ins INS - - GAAGCC rs139749569 byFrequency TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr19:36590446_36590447insGAAGCC ENST00000401500.2 + 22 2701_2702 c.2666_2667insGAAGCC c.(2665-2667)aaa>aGAAGCCaa p.889_889K>RSQ WDR62_ENST00000270301.7_In_Frame_Ins_p.889_889K>RSQ NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 889 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTTACCCCCATGAAGCCCGAGA 0.634 21 80 --- --- --- --- NF2 4771 broad.mit.edu 37 22 30069292 30069292 + Frame_Shift_Del DEL A A - TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a5ba698-330f-45de-9f1f-aee1235775b7 4debfd4f-275c-41f6-a4f7-ed2917dc1a3f g.chr22:30069292delA ENST00000338641.4 + 12 1598 c.1157delA c.(1156-1158)gafs p.E386fs NF2_ENST00000361166.4_Frame_Shift_Del_p.E386fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.E386fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.E303fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.E386fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.E344fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000334961.7_Frame_Shift_Del_p.E303fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Frame_Shift_Del_p.E357fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.E345fs NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 386 Glu-rich. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.L383fs*12(1)|p.M375fs*20(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 CTGTTGGCTGAAAAGGCCCAG 0.587 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 2 4 --- --- --- ---