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 FANCE 2178 broad.mit.edu 37 6 35423550 35423550 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr6:35423550G>A ENST00000229769.2 + 2 460 c.275G>A c.(274-276)cGg>cAg p.R92Q NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 92 DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 CGATTGCCCCGGATATGCCAG 0.592000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 47 41 0 0 0.014410 0 0 PHF21A 51317 broad.mit.edu 37 11 45959824 45959824 + Missense_Mutation SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr11:45959824T>C ENST00000257821.4 - 15 2115 c.1492A>G c.(1492-1494)Agt>Ggt p.S498G PHF21A_ENST00000323180.6_Missense_Mutation_p.S451G|PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000418153.2_Missense_Mutation_p.S497G NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 497 Required for transcriptional repression. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 AACTGGCCACTTTTTCTGCAA 0.403000 26 34 0 0 0.008361 0 0 CFB 629 broad.mit.edu 37 6 31911098 31911098 + Splice_Site SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr6:31911098T>C ENST00000556679.1 + 8 1051 c.e8+2 CFB_ENST00000477310.1_Splice_Site|C2_ENST00000452323.2_Splice_Site|C2_ENST00000299367.5_Splice_Site|C2_ENST00000442278.2_Splice_Site|CFB_ENST00000456570.1_Splice_Site|C2_ENST00000469372.1_Splice_Site P00751 CFAB_HUMAN complement factor B complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 ACTATTAAGGTACCAGGAAGG 0.552000 24 28 0 0 0.003330 0 0 OR4D6 219983 broad.mit.edu 37 11 59224535 59224535 + Silent SNP G G T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr11:59224535G>T ENST00000300127.2 + 1 125 c.102G>T c.(100-102)gtG>gtT p.V34V NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TCTTTGCTGTGTATGTAGCAA 0.458000 6 94 8.12818e-05 9.11675e-05 0.001984 1 0 USP11 8237 broad.mit.edu 37 X 47092455 47092455 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chrX:47092455G>A ENST00000377107.2 + 1 367 c.13G>A c.(13-15)Gca>Aca p.A5T USP11_ENST00000218348.3_Missense_Mutation_p.A48T P51784 UBP11_HUMAN ubiquitin specific peptidase 11 48 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 ggcgacggtcgcagcaaatcc 0.642000 5 2 0 0 0.000602 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 22 0 0 0.009096 0 0 EZH1 2145 broad.mit.edu 37 17 40869993 40869993 + Splice_Site SNP C C A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr17:40869993C>A ENST00000428826.2 - 10 1145 c.e10+1 EZH1_ENST00000592743.1_Splice_Site|EZH1_ENST00000435174.1_Splice_Site|EZH1_ENST00000415827.2_Splice_Site|EZH1_ENST00000590078.1_Splice_Site|EZH1_ENST00000585893.1_Splice_Site Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TAAGAACATACCAGCAAAAGG 0.413000 19 25 1.96292e-10 2.26281e-10 0.010504 1 0 CTD-2139B15.2 0 broad.mit.edu 37 5 17354125 17354125 + RNA SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr5:17354125G>A ENST00000511821.1 + 0 101 FTH1P10_ENST00000401830.3_RNA TTCAGGTAATGTGTCTCAATG 0.438000 25 19 0 0 0.004656 0 0 BMP2K 55589 broad.mit.edu 37 4 79793907 79793907 + Missense_Mutation SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr4:79793907C>T ENST00000335016.5 + 13 1914 c.1748C>T c.(1747-1749)cCa>cTa p.P583L BMP2K_ENST00000502871.1_Missense_Mutation_p.P583L NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 583 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 TCATCACTTCCAGCTCAGGTT 0.448000 34 44 0 0 0.003271 0 0 MUC17 140453 broad.mit.edu 37 7 100678206 100678206 + Missense_Mutation SNP C C T rs140475164 byFrequency TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr7:100678206C>T ENST00000306151.4 + 3 3573 c.3509C>T c.(3508-3510)aCg>aTg p.T1170M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1170 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) GTCAGCACCACGCTGGTGGTC 0.522000 145 655 0 0 0.014410 0 0 PTPRM 5797 broad.mit.edu 37 18 7949178 7949178 + Splice_Site SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr18:7949178G>A ENST00000332175.8 + 6 1700 c.e6-1 PTPRM_ENST00000444013.1_Splice_Site|PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000580170.1_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) ACTTGATACAGGGCATTGATG 0.448000 37 50 0 0 0.009718 0 0 RPF2 84154 broad.mit.edu 37 6 111346773 111346773 + Silent SNP T T A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr6:111346773T>A ENST00000441448.2 + 10 1001 c.909T>A c.(907-909)atT>atA p.I303I NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 303 nucleolus protein binding p.I303I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 CAAAAAGAATTAAAAAAAATT 0.368000 5 9 0 0 0.001168 0 0 TMEM66 51669 broad.mit.edu 37 8 29923548 29923548 + Missense_Mutation SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr8:29923548T>C ENST00000256255.6 - 5 1207 c.950A>G c.(949-951)tAt>tGt p.Y317C TMEM66_ENST00000545648.1_Missense_Mutation_p.Y145C|TMEM66_ENST00000536273.1_Missense_Mutation_p.Y145C NM_016127.4 NP_057211.4 Q96BY9 TMM66_HUMAN transmembrane protein 66 317 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) ACATACCGAATAGCTGCCCGA 0.473000 5 75 0 0 0.000602 0 0 COL22A1 169044 broad.mit.edu 37 8 139791795 139791795 + Missense_Mutation SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr8:139791795C>T ENST00000303045.6 - 14 2107 c.1661G>A c.(1660-1662)gGa>gAa p.G554E COL22A1_ENST00000435777.1_Missense_Mutation_p.G554E NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 554 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCCCAGCTCTCCTGGCTCCCC 0.622000 HNSCC(7;0.00092) 20 71 0 0 0.003954 0 0 CD1B 910 broad.mit.edu 37 1 158298711 158298711 + Splice_Site SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr1:158298711C>T ENST00000368168.3 - 5 1087 c.980_splice c.e5+1 p.R327_splice NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 327 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) CACAACTCACCGGCGCCTCAT 0.388000 12 47 0 0 0.001855 0 0 TRDV1 0 broad.mit.edu 37 14 22564370 22564370 + RNA SNP A A G TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr14:22564370A>G ENST00000390452.2 + 0 62 GCCTTCAGCTACTCTGGTATG 0.453000 4 7 0 0 0.009096 0 0 ZNF567 163081 broad.mit.edu 37 19 37203719 37203719 + Missense_Mutation SNP T T G TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr19:37203719T>G ENST00000585696.1 + 2 1310 c.80T>G c.(79-81)tTg>tGg p.L27W ZNF567_ENST00000536254.2_Missense_Mutation_p.L58W|ZNF567_ENST00000588311.1_Missense_Mutation_p.L27W|ZNF567_ENST00000392163.2_Missense_Mutation_p.L27W|ZNF567_ENST00000360729.4_Missense_Mutation_p.L27W Q8N184 ZN567_HUMAN zinc finger protein 567 58 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATCCTCAAGTTGGAACGAGGA 0.423000 17 30 0 0 0.006122 0 0 UAP1 6675 broad.mit.edu 37 1 162557442 162557442 + Silent SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr1:162557442C>T ENST00000271469.3 + 6 1314 c.1012C>T c.(1012-1014)Ctg>Ttg p.L338L UAP1_ENST00000367926.4_Silent_p.L338L|UAP1_ENST00000367924.1_Silent_p.L338L|UAP1_ENST00000367925.1_Silent_p.L338L Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 338 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TGTACCATTTCTGAGAGATGT 0.433000 60 165 0 0 0.014410 0 0 ZMAT4 79698 broad.mit.edu 37 8 40532420 40532420 + Missense_Mutation SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr8:40532420C>T ENST00000297737.6 - 5 526 c.380G>A c.(379-381)cGg>cAg p.R127Q ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 127 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) AGTGTCCATCCGTGGGGGCTT 0.527000 56 106 0 0 0.014410 0 0 KLKB1 3818 broad.mit.edu 37 4 187178500 187178500 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr4:187178500G>A ENST00000264690.6 + 14 1893 c.1706G>A c.(1705-1707)gGg>gAg p.G569E KLKB1_ENST00000513864.1_Intron NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 569 Peptidase S1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity p.G569E(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TATAAAGAAGGGGGAAAAGAT 0.323000 7 153 0 0 0.008291 0 0 TP53 7157 broad.mit.edu 37 17 7579358 7579358 + Missense_Mutation SNP C C G rs11540654 TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr17:7579358C>G ENST00000420246.2 - 4 461 c.329G>C c.(328-330)cGt>cCt p.R110P TP53_ENST00000455263.2_Missense_Mutation_p.R110P|TP53_ENST00000359597.4_Missense_Mutation_p.R110P|TP53_ENST00000445888.2_Missense_Mutation_p.R110P|TP53_ENST00000413465.2_Missense_Mutation_p.R110P|TP53_ENST00000269305.4_Missense_Mutation_p.R110P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 110 Interaction with HIPK1 (By similarity).|Interaction with WWOX. R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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) GAAGCCCAGACGGAAACCGTA 0.612000 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) 21 41 0 0 0.010504 0 0 AKAP9 10142 broad.mit.edu 37 7 91736724 91736724 + Missense_Mutation SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr7:91736724C>T ENST00000359028.2 + 48 11771 c.11546C>T c.(11545-11547)cCa>cTa p.P3849L AKAP9_ENST00000358100.2_Missense_Mutation_p.P3795L|AKAP9_ENST00000356239.3_Missense_Mutation_p.P3845L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3849 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCCCCTTTACCATTTCAGAAT 0.353000 T BRAF papillary thyroid 89 32 0 0 0.014410 0 0 TPTE 7179 broad.mit.edu 37 21 10970032 10970032 + Silent SNP G G A rs147186596 TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr21:10970032G>A ENST00000298232.7 - 6 463 c.96C>T c.(94-96)acC>acT p.T32T TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.T32T|TPTE_ENST00000361285.4_Silent_p.T32T NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 32 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.T32T(2)|p.E33fs*10(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTGCCTCCTCGGTTGCTCCTT 0.398000 28 108 0 0 0.007291 0 0 ATRX 546 broad.mit.edu 37 X 76813076 76813076 + Missense_Mutation SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chrX:76813076T>C ENST00000373344.5 - 30 6759 c.6545A>G c.(6544-6546)aAg>aGg p.K2182R ATRX_ENST00000395603.3_Missense_Mutation_p.K2144R|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2182 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.?(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) CAGTGACTGCTTAGTTACTTG 0.333000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 61 10 0 0 0.014410 0 0 TP53 7157 broad.mit.edu 37 17 7578226 7578226 + Missense_Mutation SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr17:7578226T>C ENST00000420246.2 - 6 755 c.623A>G c.(622-624)gAc>gGc p.D208G TP53_ENST00000455263.2_Missense_Mutation_p.D208G|TP53_ENST00000359597.4_Missense_Mutation_p.D208G|TP53_ENST00000445888.2_Missense_Mutation_p.D208G|TP53_ENST00000413465.2_Missense_Mutation_p.D208G|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.D208G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 208 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|DD -> EY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.D208V(14)|p.0?(8)|p.?(5)|p.D208G(3)|p.D207fs*6(2)|p.D208fs*1(1)|p.D207_R213delDDRNTFR(1)|p.D208fs*39(1)|p.D208fs*38(1)|p.D207_V216del10(1)|p.D208I(1)|p.E204_N210delEYLDDRN(1)|p.D208_V216delDRNTFRHSV(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) AGTGTTTCTGTCATCCAAATA 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) 17 32 0 0 0.004990 0 0 WBP7 0 broad.mit.edu 37 19 36216441 36216441 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr19:36216441G>A ENST00000420124.1 + 12 3704 c.3704G>A c.(3703-3705)cGg>cAg p.R1235Q WBP7_ENST00000222270.7_Missense_Mutation_p.R1235Q|KMT2B_ENST00000607650.1_RNA GAGGCCGAGCGGCCCCTGCCC 0.597000 86 145 0 0 0.014410 0 0 C2 717 broad.mit.edu 37 6 31902169 31902169 + Silent SNP C C A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr6:31902169C>A ENST00000418949.2 + 6 992 c.942C>A c.(940-942)gcC>gcA p.A314A CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000299367.5_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) CACTCACAGCCCACCTCCTCC 0.473000 15 27 1.49906e-05 1.70441e-05 0.002450 1 0 DUPD1 338599 broad.mit.edu 37 10 76803657 76803657 + Nonsense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr10:76803657G>A ENST00000338487.5 - 2 318 c.319C>T c.(319-321)Cag>Tag p.Q107* NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 107 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CCGTGGTACTGGATGTCCATG 0.642000 35 51 0 0 0.004878 0 0 CABS1 85438 broad.mit.edu 37 4 71201800 71201800 + Silent SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr4:71201800T>C ENST00000273936.4 + 1 1103 c.1044T>C c.(1042-1044)aaT>aaC p.N348N NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 348 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AAACTGATAATACAGAGACTG 0.408000 28 50 0 0 0.004656 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 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 25 53 0 0 0.004656 0 0 KMT2D 8085 broad.mit.edu 37 12 49446390 49446390 + Silent SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr12:49446390T>C ENST00000301067.7 - 9 1214 c.1215A>G c.(1213-1215)caA>caG p.Q405Q NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTTCCTTGGGTTGCATAGAGG 0.557000 12 10 0 0 0.013537 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110493686 110493686 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr8:110493686G>A ENST00000378402.5 + 56 9456 c.9352G>A c.(9352-9354)Gaa>Aaa p.E3118K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3118 G8 2. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CGGTGGCTGGGAAGATAACCC 0.378000 HNSCC(38;0.096) 15 7 0 0 0.004007 0 0 CTD-2049J23.2 0 broad.mit.edu 37 3 159819304 159819304 + RNA SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr3:159819304C>T ENST00000497452.1 - 0 517 TGCAAAGAAGCTGTTGCACTC 0.383000 60 99 0 0 0.014410 0 0 LRIF1 55791 broad.mit.edu 37 1 111494470 111494470 + Nonsense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr1:111494470G>A ENST00000369763.4 - 2 1426 c.1036C>T c.(1036-1038)Cga>Tga p.R346* RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TTTTTGGATCGCGTCCCACTA 0.353000 49 77 0 0 0.014410 0 0 ZNF600 162966 broad.mit.edu 37 19 53269430 53269430 + Missense_Mutation SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr19:53269430T>C ENST00000338230.3 - 3 1846 c.1579A>G c.(1579-1581)Aag>Gag p.K527E NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TCATTACACTTGTAAGGTTTC 0.453000 11 104 0 0 0.010729 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409595 105409595 + Missense_Mutation SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr14:105409595C>T ENST00000333244.5 - 7 12312 c.12193G>A c.(12193-12195)Gac>Aac p.D4065N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4065 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCTTGAGGTCCACTTTGGGC 0.602000 93 182 0 0 0.014410 0 0 MPO 4353 broad.mit.edu 37 17 56357985 56357985 + Silent SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr17:56357985G>A ENST00000340482.3 - 1 311 c.135C>T c.(133-135)ccC>ccT p.P45P MPO_ENST00000225275.3_Silent_p.P45P P05164 PERM_HUMAN myeloperoxidase 45 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) CACCTTCAGAGGGCTGGGGCG 0.597000 22 51 0 0 0.003954 0 0 DSG1 1828 broad.mit.edu 37 18 28911710 28911710 + Missense_Mutation SNP C C A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr18:28911710C>A ENST00000257192.4 + 6 776 c.564C>A c.(562-564)aaC>aaA p.N188K NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 188 Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGAACCGAACAATTTGAACT 0.333000 20 36 1.96292e-10 2.26281e-10 0.010504 1 0 HPS6 79803 broad.mit.edu 37 10 103826085 103826085 + Missense_Mutation SNP T T G TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr10:103826085T>G ENST00000299238.5 + 1 939 c.854T>G c.(853-855)tTc>tGc p.F285C NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 285 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) TTGCTTGACTTCGGGGGCACT 0.682000 Hermansky-Pudlak syndrome 18 36 0 0 0.007413 0 0 EBF1 1879 broad.mit.edu 37 5 158140057 158140057 + Silent SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr5:158140057G>A ENST00000313708.6 - 13 1572 c.1290C>T c.(1288-1290)caC>caT p.H430H EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.H399H|EBF1_ENST00000517373.1_Silent_p.H422H NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 430 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCATCCCTGCGTGGACCGAGG 0.557000 T HMGA2 lipoma 38 37 0 0 0.006999 0 0 SCNN1B 0 broad.mit.edu 37 16 23382718 23382718 + Missense_Mutation SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr16:23382718C>T ENST00000343070.2 + 6 1155 c.979C>T c.(979-981)Ccc>Tcc p.P327S SCNN1B_ENST00000568085.1_Missense_Mutation_p.P327S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P300S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P372S NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 327 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) GAGGTCATACCCCTTCATCAG 0.602000 14 32 0 0 0.001855 0 0 CECR1 51816 broad.mit.edu 37 22 17684592 17684592 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr22:17684592G>A ENST00000399839.1 - 4 884 c.614C>T c.(613-615)tCg>tTg p.S205L CECR1_ENST00000262607.3_Missense_Mutation_p.S205L|CECR1_ENST00000399837.2_Missense_Mutation_p.S205L|CECR1_ENST00000449907.2_Missense_Mutation_p.S163L Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 205 Substrate binding. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) TTCAAATTTCGACCAGACAAC 0.493000 17 27 0 0 0.004990 0 0 NOL4 8715 broad.mit.edu 37 18 31709958 31709958 + Silent SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr18:31709958T>C ENST00000261592.5 - 2 588 c.291A>G c.(289-291)ctA>ctG p.L97L NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Silent_p.L97L|NOL4_ENST00000538587.1_Silent_p.L23L|NOL4_ENST00000535475.1_5'UTR NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 97 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GTCGTAAAGATAGCTTCTCAT 0.373000 18 27 0 0 0.006122 0 0 ART3 419 broad.mit.edu 37 4 77018801 77018801 + Silent SNP A A G TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr4:77018801A>G ENST00000355810.4 + 4 905 c.786A>G c.(784-786)ctA>ctG p.L262L ART3_ENST00000341029.5_Silent_p.L262L|ART3_ENST00000349321.3_Silent_p.L262L|ART3_ENST00000513494.1_3'UTR NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 262 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTTCAGGACTAAAAACCGAAA 0.323000 18 51 0 0 0.014323 0 0 ATAD3B 83858 broad.mit.edu 37 1 1421533 1421533 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr1:1421533G>A ENST00000308647.7 + 10 1123 c.1007G>A c.(1006-1008)aGg>aAg p.R336K NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 336 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ATAGCAACCAGGAACACCAAG 0.642000 35 70 0 0 0.004878 0 0 SRP19 6728 broad.mit.edu 37 5 112203073 112203073 + Silent SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr5:112203073T>C ENST00000282999.3 + 5 378 c.306T>C c.(304-306)taT>taC p.Y102Y SRP19_ENST00000505459.1_Intron|CTC-554D6.1_ENST00000520401.1_Intron|SRP19_ENST00000512790.1_Intron|SRP19_ENST00000515463.1_Intron P09132 SRP19_HUMAN signal recognition particle 19kDa 102 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding breast(1)|cervix(1)|large_intestine(1) 3 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) TCTCAGATTATACACTAAGCC 0.308000 29 31 0 0 0.009535 0 0 CD300LB 124599 broad.mit.edu 37 17 72518906 72518906 + Missense_Mutation SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr17:72518906C>T ENST00000392621.1 - 4 692 c.688G>A c.(688-690)Gaa>Aaa p.E230K NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 193 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 GTCAGAGGTTCGGAGAAGTTC 0.547000 32 47 0 0 0.003271 0 0 TRBV6-4 0 broad.mit.edu 37 7 142250978 142250978 + RNA SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr7:142250978G>A ENST00000390360.3 - 0 89 GTGCCTGGGTGATCCCAGCAG 0.522000 20 112 0 0 0.012319 0 0 LRP1 4035 broad.mit.edu 37 12 57547993 57547993 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr12:57547993G>A ENST00000243077.3 + 7 1310 c.844G>A c.(844-846)Gtg>Atg p.V282M LRP1_ENST00000554174.1_Missense_Mutation_p.V282M NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 282 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTCTCCAGACGTGGAACAGAT 0.527000 7 156 0 0 0.004482 0 0 PTH2R 5746 broad.mit.edu 37 2 209308141 209308141 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr2:209308141G>A ENST00000272847.2 + 6 791 c.578G>A c.(577-579)aGc>aAc p.S193N PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 193 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) AGAGCTACAAGCATCTTTGTC 0.403000 26 40 0 0 0.003954 0 0 COG5 0 broad.mit.edu 37 7 106938740 106938740 + Missense_Mutation SNP C C T rs35258567 byFrequency TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr7:106938740C>T ENST00000393603.2 - 12 1524 c.1253G>A c.(1252-1254)cGt>cAt p.R418H COG5_ENST00000297135.3_Missense_Mutation_p.R418H|COG5_ENST00000347053.3_Missense_Mutation_p.R418H NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 418 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 ATTATAAAGACGTAATAATTT 0.343000 82 31 0 0 0.014410 0 0 ZNF506 440515 broad.mit.edu 37 19 19905656 19905656 + Missense_Mutation SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr19:19905656C>T ENST00000443905.2 - 4 1187 c.1040G>A c.(1039-1041)gGc>gAc p.G347D CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.G315D|ZNF506_ENST00000540806.2_Missense_Mutation_p.G347D|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA Q5JVG8 ZN506_HUMAN zinc finger protein 506 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 AAAGGTTTTGCCACATTCGTC 0.408000 4 71 0 0 0.009096 0 0 GOLGA6L2 283685 broad.mit.edu 37 15 23692250 23692250 + Missense_Mutation SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr15:23692250T>C ENST00000567107.1 - 1 131 c.79A>G c.(79-81)Aaa>Gaa p.K27E GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.K27E|GOLGA6L2_ENST00000345070.5_5'UTR golgin A6 family-like 2 breast(1)|endometrium(7) 8 TTTACCTTTTTCTTGGCCTCA 0.572000 5 1 0 0 0.000602 0 0 STPG1 90529 broad.mit.edu 37 1 24727850 24727850 + Missense_Mutation SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr1:24727850C>T ENST00000374409.1 - 2 283 c.29G>A c.(28-30)cGc>cAc p.R10H STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.R10H|STPG1_ENST00000003583.8_Missense_Mutation_p.A3T|STPG1_ENST00000440416.1_Missense_Mutation_p.A3T NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 TTTGCCAGTGCGTTCATTTTT 0.418000 18 22 0 0 0.007413 0 0 MACROD2 140733 broad.mit.edu 37 20 15843442 15843442 + Missense_Mutation SNP A A T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr20:15843442A>T ENST00000217246.4 + 9 1093 c.698A>T c.(697-699)aAa>aTa p.K233I MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.K233I NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 233 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) AAAATCTACAAAAAGAAAATG 0.348000 13 28 0 0 0.003163 0 0 PIK3R2 5296 broad.mit.edu 37 19 18272833 18272833 + Silent SNP C C T rs68016487 TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr19:18272833C>T ENST00000593731.1 + 7 1433 c.873C>T c.(871-873)caC>caT p.H291H PIK3R2_ENST00000222254.7_Silent_p.H291H O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 291 Rho-GAP. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 TTCAGGAACACTTGGAAGAGC 0.612000 28 37 0 0 0.008361 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6438610 6438610 + Silent SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr12:6438610C>T ENST00000162749.2 - 10 1535 c.1236G>A c.(1234-1236)ccG>ccA p.P412P TNFRSF1A_ENST00000540022.1_Silent_p.P369P NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 412 Death. Missing (in Ref. 5; AAA36756). apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 CCTCGCGCCGCGGCGTGCGCC 0.721000 5 6 0 0 0.000602 0 0 USP35 57558 broad.mit.edu 37 11 77916930 77916930 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr11:77916930G>A ENST00000529308.1 + 7 1501 c.1240G>A c.(1240-1242)Ggg>Agg p.G414R USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_5'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.G145R|USP35_ENST00000441408.2_5'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 414 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GCAGCTGCTGGGGCAGGATGC 0.587000 71 89 0 0 0.014410 0 0 FGF20 26281 broad.mit.edu 37 8 16850596 16850596 + Silent SNP T T C TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr8:16850596T>C ENST00000180166.5 - 3 769 c.621A>G c.(619-621)ctA>ctG p.L207L NM_019851.2 NP_062825.1 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 207 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 11 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) TGTACATCAGTAGGTCCTTGT 0.423000 36 67 0 0 0.011902 0 0 IL1RL1 9173 broad.mit.edu 37 2 102956649 102956649 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr2:102956649G>A ENST00000311734.2 + 4 703 c.364G>A c.(364-366)Gta>Ata p.V122I IL1RL1_ENST00000393393.3_Missense_Mutation_p.V122I|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V5I Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 122 Ig-like C2-type 2. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GTATTCAACAGTATCTGGATC 0.343000 13 19 0 0 0.013537 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508596 106508596 + Missense_Mutation SNP C C T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr7:106508596C>T ENST00000359195.3 + 2 900 c.590C>T c.(589-591)gCc>gTc p.A197V PIK3CG_ENST00000496166.1_Missense_Mutation_p.A197V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A197V NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 197 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AAGCTCTACGCCATGCACCCG 0.632000 21 149 0 0 0.012319 0 0 OR5M3 219482 broad.mit.edu 37 11 56237959 56237959 + Silent SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr11:56237959G>A ENST00000312240.2 - 1 55 c.15C>T c.(13-15)acC>acT p.T5T NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) CTGTCACATCGGTGAAATTGA 0.328000 19 36 0 0 0.008871 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 10 65 --- --- --- --- SULT1C2 6819 broad.mit.edu 37 2 108921152 108921152 + Frame_Shift_Del DEL A A - TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr2:108921152delA ENST00000326853.5 + 6 984 c.531delA c.(529-531)ggfs p.G177fs SULT1C2_ENST00000409880.1_Frame_Shift_Del_p.G129fs|SULT1C2_ENST00000437390.2_Frame_Shift_Del_p.G180fs|SULT1C2_ENST00000251481.6_Frame_Shift_Del_p.G166fs NM_176825.2 NP_789795.1 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 2 166 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 TCATCAATGGAAAAGGTACGG 0.473 37 74 --- --- --- --- ZNF454 285676 broad.mit.edu 37 5 178392212 178392221 + Frame_Shift_Del DEL GAAGCCTTTT GAAGCCTTTT - TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr5:178392212_178392221delGAAGCCTTTT ENST00000320129.3 + 5 1110_1119 c.807_816delGAAGCCTTTT c.(805-816)gafs p.EKPF269fs ZNF454_ENST00000519564.1_Frame_Shift_Del_p.EKPF269fs NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) ATACTGGAGAGAAGCCTTTTGAATGCAACT 0.395 24 68 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6775144 6775145 + RNA INS - - T rs28729319 TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr7:6775144_6775145insT ENST00000486256.1 + 0 833 NR_002217.1 TTTTTTTTTTCTTTTTGAGACG 0.396 2 4 --- --- --- --- KCNQ3 3786 broad.mit.edu 37 8 133150232 133150233 + Frame_Shift_Ins INS - - T TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr8:133150232_133150233insT ENST00000388996.4 - 12 2019_2020 c.1599_1600insA c.(1597-1602)aatcaafs p.NQ533fs KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 533 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.F534I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTCTCCTTGAATTTTTTTTTAT 0.455 9 282 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000525196.1_Intron NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 7 132 --- --- --- --- SMOC1 64093 broad.mit.edu 37 14 70442501 70442502 + Frame_Shift_Del DEL TC TC - TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr14:70442501_70442502delTC ENST00000381280.4 + 4 701_702 c.448_449delTC c.(448-450)tfs p.S150fs SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 150 Thyroglobulin type-1 1. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding p.S150F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CAGTGGCTCTTCTGTGCAGAAT 0.525 24 41 --- --- --- --- BCL11B 64919 broad.mit.edu 37 14 99641544 99641546 + In_Frame_Del DEL CTC CTC - TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr14:99641544_99641546delCTC ENST00000345514.2 - 3 1680_1682 c.1414_1416delGAG c.(1414-1416)del p.E472del BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 543 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCAGTAGCAGctcctcctcctcc 0.700 T TLX3 T-ALL 2 4 --- --- --- --- EIF4A1 1973 broad.mit.edu 37 17 7477923 7477923 + Frame_Shift_Del DEL C C - TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec9fcfd-d067-4fd3-9527-131617b1b06b fa4ffd6d-1941-46d3-afdd-cfbc91191dd1 g.chr17:7477923delC ENST00000293831.8 + 3 148 c.132delC c.(130-132)ctfs p.L44fs EIF4A1_ENST00000582746.1_Frame_Shift_Del_p.L44fs|EIF4A1_ENST00000380512.5_Frame_Shift_Del_p.L28fs|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Frame_Shift_Del_p.L44fs NM_001416.3 NP_001407.1 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A1 44 nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 22 AGTCCCTTCTCCGTGGCATCT 0.478 28 52 --- --- --- ---