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 TBX18 9096 broad.mit.edu 37 6 85448225 85448225 + Silent SNP A A T TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr6:85448225A>T ENST00000369663.5 - 7 1426 c.1089T>A c.(1087-1089)atT>atA p.I363I TBX18_ENST00000606784.1_Silent_p.I205I NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 363 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CTTGCTTGGGAATTCCAGGGA 0.438000 66 122 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237753198 237753198 + Missense_Mutation SNP G G T TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr1:237753198G>T ENST00000366574.2 + 30 4021 c.3704G>T c.(3703-3705)gGc>gTc p.G1235V RYR2_ENST00000542537.1_Missense_Mutation_p.G1219V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1233V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1235 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTACAAGAGGGCTATGAACCA 0.433000 4 32 0.184627 0.195817 1 1 0 INO80D 54891 broad.mit.edu 37 2 206921218 206921218 + Missense_Mutation SNP G G A TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr2:206921218G>A ENST00000403263.1 - 4 1072 c.668C>T c.(667-669)gCg>gTg p.A223V NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 223 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 CTGCGGTGGCGCTGGAGGTTT 0.562000 7 16 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608693 84608693 + Missense_Mutation SNP A A G TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr9:84608693A>G ENST00000344803.2 + 4 3355 c.3308A>G c.(3307-3309)aAa>aGa p.K1103R NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GTCAGTCAGAAACAGACTGTA 0.493000 15 39 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93072938 93072938 + Silent SNP C C G rs149950588 TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr7:93072938C>G ENST00000359558.2 - 11 1181 c.882G>C c.(880-882)cgG>cgC p.R294R CALCR_ENST00000360249.4_Silent_p.R276R|CALCR_ENST00000426151.1_Silent_p.R260R|CALCR_ENST00000421592.1_Silent_p.R276R|CALCR_ENST00000394441.1_Silent_p.R260R NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 276 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding p.R260R(1)|p.R294R(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GATAATACCACCGCAAGCGTT 0.443000 24 58 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124390734 124390734 + Missense_Mutation SNP C C T TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr10:124390734C>T ENST00000368909.3 + 46 6002 c.5896C>T c.(5896-5898)Cgg>Tgg p.R1966W DMBT1_ENST00000359586.6_Missense_Mutation_p.R686W|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1338W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1338W|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1966W|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1956W NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1966 SRCR 14. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTGGCAGTGCCGGAACCGAGG 0.542000 29 31 0 0 1 0 0 C19orf53 28974 broad.mit.edu 37 19 13888924 13888924 + Missense_Mutation SNP G G A TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr19:13888924G>A ENST00000588234.1 + 3 522 c.212G>A c.(211-213)aGc>aAc p.S71N C19orf53_ENST00000593274.1_Missense_Mutation_p.S28N NM_014047.2 NP_054766.1 Q9UNZ5 L10K_HUMAN chromosome 19 open reading frame 53 71 breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19) AAAGCCAGCAGCAGCCTGCCC 0.597000 4 72 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15752394 15752394 + Missense_Mutation SNP C C T rs138587161 TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr19:15752394C>T ENST00000221307.7 + 2 217 c.169C>T c.(169-171)Cgg>Tgg p.R57W CYP4F3_ENST00000586182.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R57W NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 57 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 ACCCCCGAAACGGAATTGGTT 0.622000 6 59 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241241 60241241 + Missense_Mutation SNP G G C rs77149936 by1000genomes TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr5:60241241G>C ENST00000511107.1 + 1 208 c.159G>C c.(157-159)tgG>tgC p.W53C NDUFAF2_ENST00000296597.5_Intron Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 0 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) CGATTGCGTGGTCAGTGATTG 0.547000 3 39 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 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 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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 5 0 0 1 0 0 SSB 6741 broad.mit.edu 37 2 170665016 170665016 + Missense_Mutation SNP T T A TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr2:170665016T>A ENST00000409333.1 + 7 826 c.579T>A c.(577-579)aaT>aaA p.N193K SSB_ENST00000260956.4_Missense_Mutation_p.N193K P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 193 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCAAAAAAAATGAAGAAAGAA 0.318000 8 41 0 0 1 0 0 C19orf53 28974 broad.mit.edu 37 19 13888925 13888925 + Missense_Mutation SNP C C A TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr19:13888925C>A ENST00000588234.1 + 3 523 c.213C>A c.(211-213)agC>agA p.S71R C19orf53_ENST00000593274.1_Missense_Mutation_p.S28R NM_014047.2 NP_054766.1 Q9UNZ5 L10K_HUMAN chromosome 19 open reading frame 53 71 breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19) AAGCCAGCAGCAGCCTGCCCA 0.602000 4 73 0.184627 0.195817 1 1 0 KLHL14 57565 broad.mit.edu 37 18 30349853 30349853 + Silent SNP C C T TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr18:30349853C>T ENST00000359358.4 - 2 1140 c.702G>A c.(700-702)tcG>tcA p.S234S AC012123.1_ENST00000426194.1_Silent_p.S27S|KLHL14_ENST00000358095.4_Silent_p.S234S NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 234 BACK. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 GCGCCAGCTCCGACTCCACGG 0.652000 15 22 0 0 1 0 0 CRADD 8738 broad.mit.edu 37 12 94243956 94243956 + Missense_Mutation SNP G G A rs141179774 byFrequency TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr12:94243956G>A ENST00000542893.2 + 3 827 c.509G>A c.(508-510)cGc>cAc p.R170H CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.R170H P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with death domain 170 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging endometrium(1)|large_intestine(5)|lung(1)|ovary(1) 8 TGGCGGCAGCGCTTCGGGAAG 0.637000 22 27 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 281637 281637 + Missense_Mutation SNP C C T TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr11:281637C>T ENST00000534750.1 + 4 2108 c.1903C>T c.(1903-1905)Cgc>Tgc p.R635C NLRP6_ENST00000312165.5_Missense_Mutation_p.R635C NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 635 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGCGTTTGTGCGCCAAGCCCT 0.647000 31 81 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3999148 3999148 + Missense_Mutation SNP C C A TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr17:3999148C>A ENST00000381638.2 - 11 2014 c.1890G>T c.(1888-1890)gaG>gaT p.E630D ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 630 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 ATTGCCTGAGCTCCTGAAGCT 0.333000 4 45 0.014758 0.0166622 1 1 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr12:57485446T>C ENST00000300131.3 + 2 1000 c.622T>C c.(622-624)Ttc>Ctc p.F208L NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.F208L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTCGCCCCCCTTCTCCCCCCC 0.716000 5 10 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122685392 122685392 + Missense_Mutation SNP C C A TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr12:122685392C>A ENST00000339777.4 + 10 1748 c.1720C>A c.(1720-1722)Ccc>Acc p.P574T LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.P389T NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 574 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GATCCTGGAGCCCCTGCTCGC 0.667000 26 36 4.72057e-08 5.50733e-08 1 1 0 SNHG14 0 broad.mit.edu 37 15 25436435 25436435 + RNA SNP C C G rs145726490 by1000genomes TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr15:25436435C>G ENST00000424208.1 + 0 1030 SNHG14_ENST00000414175.1_RNA NR_003305.1 GCTCTGGGCTCAGCCCCTGGT 0.632000 3 36 0 0 1 0 0 PMEPA1 56937 broad.mit.edu 37 20 56284580 56284580 + Missense_Mutation SNP A A G TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr20:56284580A>G ENST00000341744.3 - 1 378 c.59T>C c.(58-60)gTc>gCc p.V20A PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000265626.4_Intron|PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000472841.1_Intron NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 20 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 CGTGCAGGAGACATTGGGCTg 0.721000 2 4 0 0 1 0 0 TTYH3 80727 broad.mit.edu 37 7 2696109 2696109 + Silent SNP C C G TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr7:2696109C>G ENST00000258796.7 + 11 1396 c.1191C>G c.(1189-1191)gtC>gtG p.V397V TTYH3_ENST00000403167.1_Silent_p.V226V|TTYH3_ENST00000407643.1_Silent_p.V365V NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 397 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) TCTCCTTCGTCACAGCCCTCA 0.642000 11 91 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41192203 41192203 + Missense_Mutation SNP G G T TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr15:41192203G>T ENST00000220509.5 + 4 1526 c.1187G>T c.(1186-1188)cGa>cTa p.R396L VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 396 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CGGGAGGCCCGAGATGTCTGG 0.627000 4 93 1 1 1 1 0 DGCR14 8220 broad.mit.edu 37 22 19130247 19130247 + Missense_Mutation SNP G G A rs111488352 byFrequency TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr22:19130247G>A ENST00000252137.6 - 2 339 c.296C>T c.(295-297)cCg>cTg p.P99L NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 99 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) ACAGGGTGGCGGGGGCTCCCG 0.582000 4 88 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108381471 108381471 + Missense_Mutation SNP C C A TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr11:108381471C>A ENST00000265843.4 - 6 4873 c.4763G>T c.(4762-4764)aGa>aTa p.R1588I EXPH5_ENST00000428840.1_Missense_Mutation_p.R1512I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1400I|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1581I NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1588 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AACTGAAGATCTATTTTCCCC 0.423000 40 96 1.15505e-17 1.39402e-17 1 1 0 AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- AGFG2 3268 broad.mit.edu 37 7 100137017 100137018 + Frame_Shift_Ins INS - - G TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chr7:100137017_100137018insG ENST00000300176.4 + 1 170_171 c.48_49insG c.(46-51)agggggfs p.RG16fs AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.RG16fs NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 16 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 gcggggtcagcgggggcaaggc 0.733 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938452 76938453 + Frame_Shift_Ins INS - - T TCGA-HT-7473-01A-11D-2024-08 TCGA-HT-7473-10A-01D-2024-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b6fde57-4d81-469c-a142-234ce43eee12 bdddf6da-3421-4597-9dec-c5e1ec3994e8 g.chrX:76938452_76938453insT ENST00000373344.5 - 9 2509_2510 c.2295_2296insA c.(2293-2298)taatttfs p.F766fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F728fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 766 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) GTCTTTAAATCATACAAAGTCT 0.356 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 83 38 --- --- --- ---