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	uc003pkl.1	-	6	1089	c.1089T>A	c.(1087-1089)atT>atA	p.I363I	TBX18_uc010kbq.2_Silent_p.I205I	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	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	uc001hyl.1	+	29	3824	c.3704G>T	c.(3703-3705)gGc>gTc	p.G1235V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	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	0.190583	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	uc002vaz.4	-	3	1073	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	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
FAM75D1	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	uc004amn.3	+	3	3355	c.3308A>G	c.(3307-3309)aAa>aGa	p.K1103R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1103						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						GTCAGTCAGAAACAGACTGTA	0.493000													15	39					0	0	1	0	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	uc002kxm.1	-	1	1090	c.702G>A	c.(700-702)tcG>tcA	p.S234S		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	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
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	uc003umv.2	-	10	1182	c.882G>C	c.(880-882)cgG>cgC	p.R294R	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.R260R|CALCR_uc003umw.2_Silent_p.R260R	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	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	uc001lgk.1	+	45	6002	c.5896C>T	c.(5896-5898)Cgg>Tgg	p.R1966W	DMBT1_uc001lgl.1_Missense_Mutation_p.R1956W|DMBT1_uc001lgm.1_Missense_Mutation_p.R1338W|DMBT1_uc021qaf.1_Missense_Mutation_p.R1966W|DMBT1_uc021qag.1_Missense_Mutation_p.R1956W|DMBT1_uc021qah.1_Missense_Mutation_p.R1338W|DMBT1_uc009xzz.1_Missense_Mutation_p.R1966W|DMBT1_uc010qtx.1_Missense_Mutation_p.R686W|DMBT1_uc009yab.1_Missense_Mutation_p.R669W|DMBT1_uc009yac.1_Missense_Mutation_p.R260W	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	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	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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	uc002mxg.3	+	2	247	c.212G>A	c.(211-213)aGc>aAc	p.S71N		NM_014047	NP_054766	Q9UNZ5	L10K_HUMAN	Homo sapiens chromosome 19 open reading frame 53 (C19orf53), mRNA.	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	uc010xok.2	+	1	219	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F3_uc010xol.2_Missense_Mutation_p.R57W|CYP4F3_uc002nbj.3_Missense_Mutation_p.R57W|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.R57W	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	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
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	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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	uc002ufk.3	+	6	753	c.579T>A	c.(577-579)aaT>aaA	p.N193K	SSB_uc002ufm.3_Missense_Mutation_p.N193K	NM_003142	NP_003133	P05455	LA_HUMAN	Homo sapiens Sjogren syndrome antigen B (autoantigen La) (SSB), mRNA.	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	uc002mxg.3	+	2	248	c.213C>A	c.(211-213)agC>agA	p.S71R		NM_014047	NP_054766	Q9UNZ5	L10K_HUMAN	Homo sapiens chromosome 19 open reading frame 53 (C19orf53), mRNA.	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	0.190583	1	1	0
HTR3B	9177	broad.mit.edu	37	11	113815382	113815382	+	Missense_Mutation	SNP	G	G	A	rs151297148	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.chr11:113815382G>A	uc001pok.3	+	7	1133	c.995G>A	c.(994-996)cGt>cAt	p.R332H	HTR3B_uc001pol.3_Missense_Mutation_p.R321H	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	332					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GATGAGCAGCGTGGTGGACAG	0.557000													4	73					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	uc001tda.3	+	2	613	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	NM_003805	NP_003796	P78560	CRADD_HUMAN	Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA.	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	uc010qvs.2	+	3	1903	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	NLRP6_uc010qvt.2_Missense_Mutation_p.R635C	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	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	uc002fxe.3	-	10	1954	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	ZZEF1_uc002fxk.1_Missense_Mutation_p.E630D	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	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	0.0162847	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	uc001smz.3	+	1	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(2)		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	uc009zxm.3	+	9	1745	c.1720C>A	c.(1720-1722)Ccc>Acc	p.P574T	LRRC43_uc001ubw.4_Missense_Mutation_p.P389T|LRRC43_uc009zxn.3_Missense_Mutation_p.P335T|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	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	5.39494e-08	1	1	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	uc002xyq.3	-	0	452	c.59T>C	c.(58-60)gTc>gCc	p.V20A	PMEPA1_uc002xyr.3_Intron|PMEPA1_uc002xys.3_Intron|PMEPA1_uc002xyt.3_Intron|AK056098_uc002xyu.1_5'Flank	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	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	uc003smp.3	+	10	1378	c.1191C>G	c.(1189-1191)gtC>gtG	p.V397V	TTYH3_uc010ksn.3_Silent_p.V117V|TTYH3_uc003smq.3_Silent_p.V226V	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	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
UGT2B10	7365	broad.mit.edu	37	4	69870621	69870621	+	Missense_Mutation	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.chr4:69870621A>T	uc011cao.1	-	7	1534	c.1408T>A	c.(1408-1410)Tgt>Agt	p.C470S	UGT2B10_uc011can.1_Missense_Mutation_p.C386S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	514					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTCCAGAAACAAAACAGACAA	0.418000													35	43					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	uc001pkk.3	-	5	4874	c.4763G>T	c.(4762-4764)aGa>aTa	p.R1588I	EXPH5_uc010rvz.2_Missense_Mutation_p.R1432I|EXPH5_uc010rvy.2_Missense_Mutation_p.R1400I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	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	1.36895e-17	1	1	0
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	uc003uvf.3	+	0	184_185	c.48_49insG	c.(46-51)agcgggfs	p.S16fs	AGFG2_uc003uvg.1_Frame_Shift_Ins_p.S16fs	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	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	uc004ecp.4	-	8	2527_2528	c.2295_2296insA	c.(2293-2298)tatgatfs	p.Y765fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.Y727fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.Y550fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.Y697fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.Y736fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.Y710fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	765					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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	---	---	---	---					
