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 STX19 415117 broad.mit.edu 37 3 93733522 93733522 + Silent SNP A A G TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr3:93733522A>G ENST00000315099.2 - 2 848 c.592T>C c.(592-594)Tta>Cta p.L198L ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron NM_001001850.2 NP_001001850.1 Q8N4C7 STX19_HUMAN syntaxin 19 198 intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity kidney(2)|large_intestine(2)|lung(4)|prostate(1) 9 TCTGTAAGTAAGCTTTCATTA 0.328000 11 66 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30795077 30795077 + Missense_Mutation SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr16:30795077G>A ENST00000262525.4 - 3 779 c.572C>T c.(571-573)tCg>tTg p.S191L NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) CACCAGGTGCGAGCTCTGCGT 0.657000 4 35 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32842101 32842101 + Silent SNP G G T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr1:32842101G>T ENST00000341071.7 - 9 980 c.969C>A c.(967-969)tcC>tcA p.S323S BSDC1_ENST00000446293.2_Silent_p.S323S|BSDC1_ENST00000419121.2_Silent_p.S250S|BSDC1_ENST00000526031.1_Silent_p.S211S|BSDC1_ENST00000455895.2_Silent_p.S306S|BSDC1_ENST00000449308.1_Silent_p.S306S|BSDC1_ENST00000413080.1_Silent_p.S245S Q9NW68 BSDC1_HUMAN BSD domain containing 1 306 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCAGCTTTTGGGACAGGTCCT 0.597000 41 58 1.04594e-18 1.13029e-18 1 1 0 TTN 7273 broad.mit.edu 37 2 179613099 179613099 + Missense_Mutation SNP A A C TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr2:179613099A>C ENST00000360870.5 - 46 14250 c.14028T>G c.(14026-14028)atT>atG p.I4676M TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 791 Ig-like 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACTGGAAGAAATTTCTTGAC 0.333000 21 105 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74419100 74419100 + Missense_Mutation SNP G G C TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr3:74419100G>C ENST00000263665.6 - 6 728 c.701C>G c.(700-702)cCa>cGa p.P234R NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 234 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AAGAGTTTCTGGAAACTGAAC 0.333000 12 59 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64677554 64677554 + Silent SNP C C A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr11:64677554C>A ENST00000421419.2 - 13 1935 c.1821G>T c.(1819-1821)ctG>ctT p.L607L ATG2A_ENST00000377264.3_Silent_p.L607L Q2TAZ0 ATG2A_HUMAN autophagy related 2A 607 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 TGGCCAGGCGCAGTAGGGCGG 0.721000 3 20 0.115264 0.115264 1 1 0 OLFM3 118427 broad.mit.edu 37 1 102290602 102290602 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr1:102290602C>T ENST00000370103.4 - 4 785 c.572G>A c.(571-573)cGt>cAt p.R191H OLFM3_ENST00000338858.5_Missense_Mutation_p.R211H|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 211 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CATGCAGTCACGAAGTCTTGT 0.373000 7 40 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579311 7579311 + Splice_Site SNP C C G rs68140816 TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr17:7579311C>G ENST00000420246.2 - 4 508 c.e4+1 TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGGCAACTGACCGTGCAAGTC 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 49 14 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420518 11420518 + RNA SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr12:11420518G>A ENST00000381842.3 - 0 642 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TGGCTTTCCCGGACGAGGTGG 0.617000 84 852 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71375616 71375616 + Missense_Mutation SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr17:71375616G>A ENST00000392650.3 - 35 4835 c.4835C>T c.(4834-4836)cCc>cTc p.P1612L SDK2_ENST00000388726.3_Missense_Mutation_p.P1593L NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1612 Fibronectin type-III 10. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CTCCTGCGGGGGGCTGGAGGG 0.657000 3 40 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56442018 56442018 + Missense_Mutation SNP G G A rs147760918 TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr16:56442018G>A ENST00000290649.5 - 4 734 c.524C>T c.(523-525)tCg>tTg p.S175L NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 175 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 CGTGGTGGGCGAGAAGGAAAG 0.532000 8 19 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420581 11420581 + RNA SNP G G A rs71057716 TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr12:11420581G>A ENST00000381842.3 - 0 639 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TGGCTTTCCCGGACGAGGTGG 0.632000 99 1916 0 0 1 0 0 ZP3 7784 broad.mit.edu 37 7 76054391 76054391 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr7:76054391C>T ENST00000394857.3 + 1 168 c.110C>T c.(109-111)aCg>aTg p.T37M ZP3_ENST00000336517.4_5'UTR NM_001110354.1 NP_001103824.1 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 (sperm receptor) 37 binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 CATCCTGAGACGTCCGTACAG 0.587000 6 14 0 0 1 0 0 PCIF1 63935 broad.mit.edu 37 20 44567656 44567656 + Silent SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr20:44567656C>T ENST00000372409.3 + 3 382 c.18C>T c.(16-18)caC>caT p.H6H NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 6 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 ATGAGAATCACGGCAGCCCCC 0.602000 12 86 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679309 100679309 + Missense_Mutation SNP C C G TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr7:100679309C>G ENST00000306151.4 + 3 4676 c.4612C>G c.(4612-4614)Cct>Gct p.P1538A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1538 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTCAACAACTCCTGCTGTCAC 0.473000 46 250 0 0 1 0 0 TTYH2 94015 broad.mit.edu 37 17 72246149 72246149 + Silent SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr17:72246149C>T ENST00000441391.2 + 3 1254 c.42C>T c.(40-42)ccC>ccT p.P14P TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.P314P|TTYH2_ENST00000269346.4_Silent_p.P335P NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 335 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 TTGCCGTGCCCCTCTTCTCCA 0.652000 35 53 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142655011 142655011 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr7:142655011C>T ENST00000355265.2 - 6 1049 c.575G>A c.(574-576)cGa>cAa p.R192Q KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 192 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.R192Q(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TCTCAGCGTTCGGTTAAAGTT 0.522000 16 40 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107938508 107938508 + Silent SNP A A T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chrX:107938508A>T ENST00000328300.6 + 52 5077 c.4833A>T c.(4831-4833)gcA>gcT p.A1611A COL4A5_ENST00000361603.2_Silent_p.A1605A NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1605 Collagen IV NC1. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ATACAAGTGCAGGGGCAGAAG 0.488000 Alport syndrome with Diffuse Leiomyomatosis 19 50 0 0 1 0 0 DLX5 1749 broad.mit.edu 37 7 96651603 96651603 + Missense_Mutation SNP G G C TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr7:96651603G>C ENST00000222598.4 - 2 907 c.434C>G c.(433-435)tCc>tGc p.S145C DLX5_ENST00000486603.2_Missense_Mutation_p.S145C|DLX5_ENST00000493764.1_Intron NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 145 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CTGAAAGCTGGAATAAATAGT 0.498000 46 72 0 0 1 0 0 FGF7 2252 broad.mit.edu 37 15 49776652 49776652 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr15:49776652C>T ENST00000267843.4 + 4 1147 c.536C>T c.(535-537)aCg>aTg p.T179M FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 179 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity p.T179M(1) kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) GGAAAAAAAACGAAGAAAGAA 0.373000 6 17 0 0 1 0 0 BNIP2 663 broad.mit.edu 37 15 59971949 59971949 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr15:59971949C>T ENST00000267859.3 - 4 593 c.500G>A c.(499-501)gGa>gAa p.G167E BNIP2_ENST00000607373.1_Missense_Mutation_p.G46E|BNIP2_ENST00000415213.2_Missense_Mutation_p.G108E Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 46 CRAL-TRIO. anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation nuclear envelope|perinuclear region of cytoplasm calcium ion binding|GTPase activator activity|protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 CACTTTATTTCCATTAACTTC 0.368000 4 25 0 0 1 0 0 LPAL2 0 broad.mit.edu 37 6 160888649 160888649 + RNA SNP T T C TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr6:160888649T>C ENST00000335388.5 - 0 1607 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) TGTCTGAGCATCGCGTCAGGT 0.532000 27 53 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 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 26 37 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 166960403 166960403 + Silent SNP G G T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr3:166960403G>T ENST00000392766.2 - 20 2506 c.2166C>A c.(2164-2166)acC>acA p.T722T ZBBX_ENST00000392764.1_Silent_p.T693T|ZBBX_ENST00000392767.2_Silent_p.T722T|ZBBX_ENST00000307529.5_Silent_p.T761T|ZBBX_ENST00000455345.2_Silent_p.T761T NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 722 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ACTCTTCTGAGGTTAAGCTGT 0.368000 7 19 5.4927e-09 5.84145e-09 1 1 0 HELZ 9931 broad.mit.edu 37 17 65105453 65105453 + Missense_Mutation SNP T T C TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr17:65105453T>C ENST00000358691.5 - 29 4434 c.4268A>G c.(4267-4269)tAt>tGt p.Y1423C HELZ_ENST00000580168.1_Missense_Mutation_p.Y1424C NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TCCCGCCTGATATGCAGGAGA 0.527000 29 46 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127255046 127255046 + Missense_Mutation SNP G G C TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr7:127255046G>C ENST00000341640.2 - 2 429 c.224C>G c.(223-225)cCt>cGt p.P75R PAX4_ENST00000463946.1_Missense_Mutation_p.P73R|PAX4_ENST00000378740.2_Missense_Mutation_p.P75R|PAX4_ENST00000338516.3_Missense_Mutation_p.P83R NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 83 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 AGCCACCACAGGGGGTGTAGC 0.582000 45 60 0 0 1 0 0 COPG1 22820 broad.mit.edu 37 3 128986859 128986859 + Missense_Mutation SNP C C A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr3:128986859C>A ENST00000314797.6 + 16 1728 c.1624C>A c.(1624-1626)Ctt>Att p.L542I NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 542 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity GCAGAAGGCCCTTAATGCAGG 0.517000 3 19 0.115264 0.115264 1 1 0 GPR32 2854 broad.mit.edu 37 19 51273893 51273893 + Missense_Mutation SNP T T A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr19:51273893T>A ENST00000270590.4 + 1 173 c.36T>A c.(34-36)agT>agA p.S12R NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 12 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GAGGCTGCAGTGACAGGCAAC 0.498000 7 15 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 5 76 0 0 1 0 0 APOBEC3H 164668 broad.mit.edu 37 22 39497965 39497965 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr22:39497965C>T ENST00000442487.3 + 4 588 c.461C>T c.(460-462)cCg>cTg p.P154L APOBEC3H_ENST00000348946.4_Missense_Mutation_p.P154L|APOBEC3H_ENST00000401756.1_Missense_Mutation_p.P154L|APOBEC3H_ENST00000421988.2_Intron NM_181773.3 NP_861438.2 Q6NTF7 ABC3H_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H 154 DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition cytoplasm|nucleus cytidine deaminase activity|zinc ion binding central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Melanoma(58;0.04) CACGAGAAACCGCTTTCCTTC 0.537000 26 9 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121290392 121290392 + Nonsense_Mutation SNP A A T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr8:121290392A>T ENST00000297848.3 + 27 3526 c.3256A>T c.(3256-3258)Aaa>Taa p.K1086* COL14A1_ENST00000247781.3_Nonsense_Mutation_p.K991*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.K1086* NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1086 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AACAGAATTTAAACTAAATGC 0.378000 52 59 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921762 24921762 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr15:24921762C>T ENST00000329468.2 + 1 1222 c.748C>T c.(748-750)Cgg>Tgg p.R250W NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CGGATGTGCCCGGCATCTTGG 0.622000 11 53 0 0 1 0 0 GPRC5D 55507 broad.mit.edu 37 12 13102595 13102595 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr12:13102595C>T ENST00000228887.1 - 1 723 c.724G>A c.(724-726)Gtc>Atc p.V242I RP11-392P7.6_ENST00000542078.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V242I|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA NM_018654.1 NP_061124.1 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, member D 242 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GCAATGCAGACGACCGGGTCG 0.567000 15 74 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 21 0 0 1 0 0 SPA17 53340 broad.mit.edu 37 11 124564278 124564278 + Missense_Mutation SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr11:124564278G>A ENST00000532692.1 + 4 1813 c.392G>A c.(391-393)aGa>aAa p.R131K SPA17_ENST00000524614.1_3'UTR|SPA17_ENST00000227135.2_Missense_Mutation_p.R131K|SIAE_ENST00000525730.1_5'UTR Q15506 SP17_HUMAN sperm autoantigenic protein 17 131 IQ. binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis cytoplasm|flagellum|membrane|motile cilium|primary cilium cAMP-dependent protein kinase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 5 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223) CACATAGCCAGAGAGGAGGCA 0.408000 15 92 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124332564 124332564 + Silent SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr12:124332564C>T ENST00000409039.3 + 32 5542 c.5517C>T c.(5515-5517)acC>acT p.T1839T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1839 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCGGCAAAACCGAGACCACCA 0.552000 55 34 0 0 1 0 0 ACER1 125981 broad.mit.edu 37 19 6307219 6307219 + Missense_Mutation SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr19:6307219G>A ENST00000301452.4 - 5 648 c.571C>T c.(571-573)Cgt>Tgt p.R191C NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 191 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 CAAAGCAGACGGTCACTGATC 0.542000 11 47 0 0 1 0 0 RPP30 10556 broad.mit.edu 37 10 92631801 92631801 + Missense_Mutation SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr10:92631801G>A ENST00000413330.1 + 1 93 c.58G>A c.(58-60)Gga>Aga p.G20R RPP30_ENST00000371703.3_Missense_Mutation_p.G20R NM_001104546.1 NP_001098016.1 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit 20 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity p.G20R(1) central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 8 GGCTCTGCGCGGACTTGTGGA 0.637000 66 91 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55220779 55220779 + RNA SNP C C T rs28394351 by1000genomes TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr19:55220779C>T ENST00000413439.1 + 0 808 TGATGTGGGACGCGTGAGCCC 0.602000 5 8 0 0 1 0 0 CXXC4 80319 broad.mit.edu 37 4 105412082 105412082 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr4:105412082C>T ENST00000394767.2 - 2 1328 c.878G>A c.(877-879)gGg>gAg p.G293E CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.G124E|AC093628.1_ENST00000606234.1_RNA NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 124 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) GCCAGCTCCCCCTGAGGAGGA 0.602000 13 60 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161118969 161118969 + Missense_Mutation SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr5:161118969G>A ENST00000523217.1 + 8 1061 c.819G>A c.(817-819)atG>atA p.M273I GABRA6_ENST00000274545.5_Missense_Mutation_p.M283I NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 283 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTTAACTATGACCACTTTGA 0.403000 TCGA Ovarian(5;0.080) 10 74 0 0 1 0 0 SKP2 6502 broad.mit.edu 37 5 36152899 36152899 + Missense_Mutation SNP T T A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr5:36152899T>A ENST00000274255.6 + 2 231 c.35T>A c.(34-36)cTg>cAg p.L12Q SKP2_ENST00000508514.1_Missense_Mutation_p.L12Q|SKP2_ENST00000274254.5_Missense_Mutation_p.L12Q|SKP2_ENST00000546211.1_5'UTR NM_005983.3 NP_005974.2 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 12 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATTCCAGACCTGAGTAGCAAC 0.517000 15 43 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95481306 95481306 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr9:95481306C>T ENST00000356884.6 - 5 1688 c.1621G>A c.(1621-1623)Gtg>Atg p.V541M BICD2_ENST00000375512.3_Missense_Mutation_p.V541M NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 541 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CACATGCACACGTGGTGGTAG 0.657000 18 61 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76814313 76814313 + Nonsense_Mutation SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chrX:76814313G>A ENST00000373344.5 - 29 6545 c.6331C>T c.(6331-6333)Cga>Tga p.R2111* ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2073*|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2111 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.R2111*(1)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ATAAATAATCGTCCTCTGAAA 0.274000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 15 6 0 0 1 0 0 ZNF595 152687 broad.mit.edu 37 4 59959 59959 + Missense_Mutation SNP A A G TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr4:59959A>G ENST00000509152.2 + 3 324 c.139A>G c.(139-141)Atc>Gtc p.I47V ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.I47V zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AGGTTTTGTGATCTCTAACCC 0.393000 6 87 0 0 1 0 0 M6PR 4074 broad.mit.edu 37 12 9094479 9094479 + Missense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr12:9094479C>T ENST00000000412.3 - 7 1237 c.769G>A c.(769-771)Ggt>Agt p.G257S NM_002355.3 NP_002346.1 P20645 MPRD_HUMAN mannose-6-phosphate receptor (cation dependent) 257 endosome to lysosome transport|receptor-mediated endocytosis cell surface|endosome|integral to plasma membrane|lysosomal membrane mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1) 11 Hepatocellular(102;0.137) BRCA - Breast invasive adenocarcinoma(232;0.0146) TCCCCCACACCACGATATGCT 0.468000 53 404 0 0 1 0 0 DBH 1621 broad.mit.edu 37 9 136501814 136501814 + Silent SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr9:136501814G>A ENST00000393056.2 + 1 333 c.321G>A c.(319-321)ggG>ggA p.G107G NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 107 DOMON. hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GGACCGATGGGGACACTGCCT 0.617000 5 23 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 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 46 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155198970 155198970 + Silent SNP G G A TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr3:155198970G>A ENST00000460012.1 - 23 5112 c.4755C>T c.(4753-4755)acC>acT p.T1585T PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.T1585T|PLCH1_ENST00000340059.7_Silent_p.T1623T|PLCH1_ENST00000334686.6_Silent_p.T1585T Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1623 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCACTGCAGGGGTGGGTGCTG 0.577000 10 62 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043246 20043246 + Silent SNP C C G TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr16:20043246C>G ENST00000570682.1 - 2 1173 c.873G>C c.(871-873)cgG>cgC p.R291R NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 291 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TGGTGCGGAACCGCTTGCTGA 0.502000 21 120 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74554908 74554908 + Nonsense_Mutation SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr15:74554908C>T ENST00000321288.5 + 5 922 c.922C>T c.(922-924)Caa>Taa p.Q308* CCDC33_ENST00000398814.3_Nonsense_Mutation_p.Q105* Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 308 C2. protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGATGCAGGGCAAGAAGGTAA 0.597000 4 12 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111147702 111147702 + Silent SNP C C T TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr13:111147702C>T ENST00000360467.5 + 40 3954 c.3648C>T c.(3646-3648)caC>caT p.H1216H NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1216 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CTGACATCCACGGAGACCCAG 0.557000 11 96 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117746774 117746774 + Frame_Shift_Del DEL T T - TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr6:117746774delT ENST00000368508.3 - 1 244 c.46delA c.(46-48)ctfs p.T16fs ROS1_ENST00000368507.3_Frame_Shift_Del_p.T16fs|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 16 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CAGCCAAGAGTTGCAAAATTG 0.378 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 60 91 --- --- --- --- METAP2 10988 broad.mit.edu 37 12 95868076 95868078 + In_Frame_Del DEL AAG AAG - TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr12:95868076_95868078delAAG ENST00000323666.5 + 1 350_352 c.121_123delAAG c.(121-123)del p.K44del METAP2_ENST00000546753.1_In_Frame_Del_p.K44del|METAP2_ENST00000261220.9_In_Frame_Del_p.K44del|METAP2_ENST00000551840.1_In_Frame_Del_p.K44del|METAP2_ENST00000550777.1_In_Frame_Del_p.K44del NM_006838.3 NP_006829.1 P50579 AMPM2_HUMAN methionyl aminopeptidase 2 44 Arg/Lys-rich (basic). N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|large_intestine(2)|lung(7)|prostate(1) 13 L-Methionine(DB00134) AAAAAGACGAAAGAAGAAGAAGA 0.557 11 45 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182564 59182565 + Frame_Shift_Del DEL CT CT - TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr15:59182564_59182565delCT ENST00000380516.2 - 15 2081_2082 c.1994_1995delAG c.(1993-1995)gfs p.E665fs AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 665 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTTCTAGGCGCTCTCTCTCTCT 0.475 7 99 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 84036 84053 + RNA DEL GGGAGCCTGGAAGCACAC GGGAGCCTGGAAGCACAC - rs3743872 by1000genomes TCGA-DU-7007-01A-11D-2024-08 TCGA-DU-7007-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx df228b01-461e-4a51-8c28-88879459fd88 fa26b78b-94df-41be-a392-604dc13d3b93 g.chr16:84036_84053delGGGAGCCTGGAAGCACAC ENST00000568710.1 - 0 349 CTTGTCTCTGGGGAGCCTGGAAGCACACGGGCTGGCTA 0.633 4 8 --- --- --- ---