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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TNFRSF14	8764	broad.mit.edu	37	1	2492072	2492072	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:2492072G>T	uc001ajr.2	+	5	769	c.470G>T	c.(469-471)AGT>ATT	p.S157I	TNFRSF14_uc009vlf.1_Missense_Mutation_p.S157I|TNFRSF14_uc001ajt.1_Missense_Mutation_p.V327F|TNFRSF14_uc001ajs.2_Missense_Mutation_p.S157I	NM_003820	NP_003811	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily,	157	TNFR-Cys 3.|Extracellular (Potential).				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GGCACCGAGAGTCAGGACACC	0.632000			Mis|N|F		follicular lymphoma								4	13					0.00909568	0.00945237	0.009096	1	0
MTOR	2475	broad.mit.edu	37	1	11184641	11184641	+	Silent	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:11184641C>T	uc001asd.2	-	47	6697	c.6576G>A	c.(6574-6576)CTG>CTA	p.L2192L	MTOR_uc001asc.2_Silent_p.L397L	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2192	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						CATCCTGGCGCAGATCTTCAT	0.507000													13	50					0	0	0.001855	0	0
SPATA6	54558	broad.mit.edu	37	1	48771507	48771507	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:48771507C>G	uc001crr.1	-	12	1403	c.1238G>C	c.(1237-1239)AGA>ACA	p.R413T	SPATA6_uc001crs.1_Missense_Mutation_p.R397T|SPATA6_uc010omv.1_Missense_Mutation_p.R399T	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6 precursor	413					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				ovary(1)	1						TAAAAGACTTCTTTTCAGTTC	0.353000													7	164					0	0	0.004482	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186946833	186946833	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:186946833C>G	uc001gsc.2	+	16	2078	c.1873C>G	c.(1873-1875)CCC>GCC	p.P625A	PLA2G4A_uc010pos.1_Missense_Mutation_p.P565A	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	625	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGTCTTTAAACCCAAGAATCC	0.443000													29	82					0	0	0.007291	0	0
MYO3A	53904	broad.mit.edu	37	10	26241102	26241102	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr10:26241102G>C	uc001isn.2	+	3	423	c.63G>C	c.(61-63)TGG>TGC	p.W21C	MYO3A_uc009xko.1_Missense_Mutation_p.W21C|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.W21C|MYO3A_uc001ism.2_Missense_Mutation_p.W21C	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	21	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						CTGATACATGGGAAATCACTG	0.328000													16	50					0	0	0.004007	0	0
Unknown	0	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr10:48968566A>G	uc001jgc.1	+	3		c.1234A>G								full-length cDNA clone CS0DI009YC01 of Placenta Cot 25-normalized of Homo sapiens (human).																		ACAGGATAACAAACTGGAAAA	0.284000													4	38					0	0	0.000602	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr10:51093329C>T	uc001jif.2	-	8	2011	c.1750G>A	c.(1750-1752)GCA>ACA	p.A584T	PARG_uc001jih.2_Missense_Mutation_p.A584T|PARG_uc001jig.2_Missense_Mutation_p.A170T|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.A475T|PARG_uc009xoj.2_Missense_Mutation_p.A135T|PARG_uc010qgx.1_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			ovary(2)	2				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													7	61					0	0	0.001984	0	0
TYR	7299	broad.mit.edu	37	11	88911234	88911234	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:88911234C>T	uc001pcs.2	+	1	195	c.113C>T	c.(112-114)CCG>CTG	p.P38L		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	38	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGCTGTCCACCGTGGAGCGGG	0.547000									Oculocutaneous_Albinism				21	41					0	0	0.010504	0	0
TEAD4	7004	broad.mit.edu	37	12	3129912	3129912	+	Silent	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr12:3129912C>T	uc010sej.1	+	9	970	c.693C>T	c.(691-693)TTC>TTT	p.F231F	TEAD4_uc010sek.1_Silent_p.F188F|TEAD4_uc001qln.2_Silent_p.F103F	NM_003213	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4 isoform 1	232					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCTCTGCCTTCCTGGAGCAGC	0.682000													21	51					0	0	0.002780	0	0
RAB15	376267	broad.mit.edu	37	14	65417123	65417123	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr14:65417123C>G	uc001xhz.2	-	5	546	c.465G>C	c.(463-465)CAG>CAC	p.Q155H	FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA	NM_198686	NP_941959	P59190	RAB15_HUMAN	RAB15, member RAS onocogene family	Error:Variant_position_missing_in_P59190_after_alignment					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)	1				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TGGACGCCTTCTGGTGCGTAC	0.567000													19	141					0	0	0.006122	0	0
UNC13C	440279	broad.mit.edu	37	15	54306802	54306802	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr15:54306802C>T	uc002ack.2	+	1	1702	c.1702C>T	c.(1702-1704)CAG>TAG	p.Q568*		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	568					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCAGAAAATCAGTTTTTCAC	0.428000													12	35					0	0	0.010729	0	0
GNAO1	2775	broad.mit.edu	37	16	56388962	56388962	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr16:56388962C>G	uc002eiu.3	+	8	1959	c.1062C>G	c.(1060-1062)TAC>TAG	p.Y354*		NM_020988	NP_066268	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	354					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				GCGGCTTGTACTGACCTCTTG	0.463000													18	49					0	0	0.006122	0	0
Unknown	0	broad.mit.edu	37	16	90161578	90161578	+	Silent	SNP	G	A	A	rs13337896	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr16:90161578G>A	uc002fqp.2	+	3	931	c.453G>A	c.(451-453)ACG>ACA	p.T151T	uc002fqq.2_Silent_p.T168T					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		GCCAAGGGACGCTACACCGAA	0.587000													4	32					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	T	T	rs28934576	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr17:7577120C>T	uc002gim.2	-	8	1012	c.818G>A	c.(817-819)CGT>CAT	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|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 -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			18	13					0	0	0.004990	0	0
Unknown	0	broad.mit.edu	37	17	76496577	76496577	+	RNA	SNP	C	T	T	rs2028735	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr17:76496577C>T	uc002jvt.1	+	2		c.2036C>T								Homo sapiens cDNA FLJ45552 fis, clone BRTHA2038279.																		TGTGTGCCAGCGACCCCATGG	0.388000													3	13					0	0	0.004672	0	0
MEP1B	4225	broad.mit.edu	37	18	29787227	29787227	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr18:29787227A>G	uc002kxj.3	+	8	607	c.560A>G	c.(559-561)AAT>AGT	p.N187S		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	187	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						AGAGAGCACAATTTTAACACC	0.333000													4	18					0	0	0.009096	0	0
C18orf22	79863	broad.mit.edu	37	18	77794645	77794645	+	Silent	SNP	G	C	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr18:77794645G>C	uc002lns.2	+	1	288	c.150G>C	c.(148-150)TCG>TCC	p.S50S	TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Silent_p.S50S|C18orf22_uc010dri.1_RNA	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	50					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		AATTTGCCTCGAAAACCAAGT	0.632000													12	34					0	0	0.001855	0	0
FSD1	79187	broad.mit.edu	37	19	4318904	4318904	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:4318904G>A	uc002lzy.2	+	10	1148	c.995G>A	c.(994-996)CGT>CAT	p.R332H	FSD1_uc002lzz.2_Missense_Mutation_p.R332H|FSD1_uc002maa.2_Missense_Mutation_p.R145H	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing	332	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAGGTCGTGGGGGACGG	0.597000													20	32					0	0	0.010504	0	0
C19orf66	55337	broad.mit.edu	37	19	10202008	10202008	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:10202008C>T	uc002mmu.3	+	6	765	c.467C>T	c.(466-468)CCG>CTG	p.P156L	C19orf66_uc002mmv.3_Missense_Mutation_p.P156L|C19orf66_uc002mmw.3_Missense_Mutation_p.P105L	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	hypothetical protein LOC55337	156											0						TTCCACTGCCCGAAGTGTCGG	0.498000													9	21					0	0	0.008291	0	0
KIAA0892	23383	broad.mit.edu	37	19	19456112	19456112	+	Splice_Site	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:19456112G>A	uc002nmk.3	+	12	1195	c.1156_splice	c.e12-1	p.G386_splice	KIAA0892_uc002nml.3_5'UTR|KIAA0892_uc010ecd.2_5'Flank|KIAA0892_uc010ece.2_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	hypothetical protein LOC23383 precursor						cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding				0						CCTTCTTCCAGGGCCTGTACT	0.672000													34	66					0	0	0.003271	0	0
NLRP11	204801	broad.mit.edu	37	19	56321528	56321528	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56321528A>G	uc010ygf.1	-	5	1159	c.448T>C	c.(448-450)TTC>CTC	p.F150L	NLRP11_uc002qlz.2_Missense_Mutation_p.F51L|NLRP11_uc002qmb.2_Missense_Mutation_p.F51L|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	150	NACHT.						ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCCATCAGGAACACATTGAGA	0.388000													12	32					0	0	0.010729	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736304	56736304	+	Missense_Mutation	SNP	C	T	T	rs145104621	byFrequency	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56736304C>T	uc002qmq.2	-	2	278	c.112G>A	c.(112-114)GTG>ATG	p.V38M	ZSCAN5A_uc010ygi.1_Intron|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.V38M|ZSCAN5A_uc002qms.1_Missense_Mutation_p.V38M	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3						TCAGGGTCCACGTCGTGATTT	0.532000													14	80					0	0	0.001855	0	0
GREB1	9687	broad.mit.edu	37	2	11728938	11728938	+	Missense_Mutation	SNP	C	T	T	rs151098036	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:11728938C>T	uc002rbk.1	+	10	1526	c.1226C>T	c.(1225-1227)ACG>ATG	p.T409M	GREB1_uc002rbn.1_Missense_Mutation_p.T409M|GREB1_uc002rbo.1_Missense_Mutation_p.T43M	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	409						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCTTGTACACGTGCTACCAG	0.592000													6	86					0	0	0.001984	0	0
FSHR	2492	broad.mit.edu	37	2	49190307	49190307	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:49190307G>T	uc002rww.2	-	10	1727	c.1653C>A	c.(1651-1653)CAC>CAA	p.H551Q	FSHR_uc002rwx.2_Missense_Mutation_p.H489Q|FSHR_uc010fbn.2_Missense_Mutation_p.H525Q	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	551	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGAGGTAGATGTGGATATAGC	0.527000									Gonadal_Dysgenesis_46_XX				9	29					0.000442599	0.00047873	0.006214	1	0
BAZ2B	29994	broad.mit.edu	37	2	160295595	160295595	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:160295595T>A	uc002uao.2	-	7	1177	c.825A>T	c.(823-825)GAA>GAT	p.E275D	BAZ2B_uc002uap.2_Missense_Mutation_p.E273D|BAZ2B_uc002uas.1_Missense_Mutation_p.E212D|BAZ2B_uc002uau.1_Missense_Mutation_p.E273D|BAZ2B_uc002uaq.1_Missense_Mutation_p.E203D|BAZ2B_uc002uat.3_Missense_Mutation_p.E212D|BAZ2B_uc010fop.1_Missense_Mutation_p.E273D	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	275	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TACTTTGAtcttcttcttctt	0.323000													13	108					0	0	0.013537	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		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(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								29	56					0	0	0.007291	0	0
CXCR2	3579	broad.mit.edu	37	2	219000407	219000407	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:219000407G>C	uc002vgz.1	+	4	1108	c.883G>C	c.(883-885)GCT>CCT	p.A295P	CXCR2_uc002vha.1_Missense_Mutation_p.A295P|CXCR2_uc002vhb.1_Missense_Mutation_p.A295P	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	295	Helical; Name=7; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						CATCGACCGGGCTCTGGATGC	0.592000													27	67					0	0	0.003954	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602275	234602275	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:234602275G>C	uc002vuv.3	+	1	764	c.625G>C	c.(625-627)GTG>CTG	p.V209L	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.V209L	NM_001072	NP_001063	P19224	UD16_HUMAN	UDP glycosyltransferase 1 family, polypeptide A6	209					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TTCCCAACGAGTGGCCAACTT	0.448000													63	127					0	0	0.014410	0	0
PI4KAP2	375133	broad.mit.edu	37	22	21829555	21829555	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr22:21829555T>G	uc002zuv.3	-	14	3847	c.1588A>C	c.(1588-1590)ATC>CTC	p.I530L	PI4KAP2_uc002zuw.2_Intron|PI4KAP2_uc011aid.1_Intron					SubName: Full=Putative uncharacterized protein PI4KA;												0						TCCAACATGATAGTGACCAGG	0.607000													2	6					0	0	0.004672	0	0
LOC96610	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr22:22664115A>T	uc011aim.1	+	30		c.1972A>T			LOC96610_uc011aiq.1_RNA					Parts of antibodies, mostly variable regions.												0						TGTTTAATTCAGCCTTGGAAG	0.413000													4	59					0	0	0.001168	0	0
LOC96610	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr22:22664141G>A	uc011aim.1	+	30		c.1998G>A			LOC96610_uc011aiq.1_RNA					Parts of antibodies, mostly variable regions.												0						AAATTTGAAGGTGCTGTGATT	0.448000													5	70					0	0	0.001984	0	0
LOC96610	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr22:22664743G>A	uc011aim.1	+	31		c.2258G>A			LOC96610_uc011aiq.1_RNA					Parts of antibodies, mostly variable regions.												0						CAGACTAAAGGCAAACAAGGA	0.498000													3	31					0	0	0.000602	0	0
CEP97	79598	broad.mit.edu	37	3	101447686	101447686	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:101447686G>C	uc003dvk.1	+	4	379	c.352G>C	c.(352-354)GAA>CAA	p.E118Q	CEP97_uc010hpm.1_Intron|CEP97_uc011bhf.1_Missense_Mutation_p.E118Q|CEP97_uc003dvl.1_Intron	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	118	LRR 4.					centrosome|nucleus	protein binding			ovary(2)	2						ATAGGCCATGGAACAGATCAA	0.353000													34	59					0	0	0.013726	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	T	T	rs121913279		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:178952085A>T	uc003fjk.2	+	21	3297	c.3140A>T	c.(3139-3141)CAT>CTT	p.H1047L		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	79					0	0	0.010729	0	0
PDGFRA	5156	broad.mit.edu	37	4	55152105	55152105	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr4:55152105A>G	uc003han.3	+	18	2868	c.2537A>G	c.(2536-2538)GAT>GGT	p.D846G	PDGFRA_uc003haa.2_Missense_Mutation_p.D606G	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	846	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.I843_D846del(20)|p.I843_S847>T(6)|p.M844_S847del(6)|p.D842_D846>H(4)|p.D842_D846>E(3)|p.H845_N848>P(3)|p.D842_D846del(2)|p.D842_D846>A(2)|p.D842_S847>RV(1)|p.D842_D846>S(1)|p.D842_S847>EA(1)|p.I843_S847>I(1)|p.D842_D846>G(1)|p.D842_D846>N(1)|p.D846Y(1)|p.I843_S847>L(1)|p.M844_S847>P(1)|p.H845_N848del(1)		soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATCATGCATGATTCGAACTAT	0.498000			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			7	141					0	0	0.003080	0	0
PRDM13	59336	broad.mit.edu	37	6	100062262	100062262	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr6:100062262G>A	uc003pqg.1	+	4	2012	c.1751G>A	c.(1750-1752)CGC>CAC	p.R584H		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	584	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CTGTACTCGCGCAAGTATGGG	0.458000													3	26					0	0	0.009096	0	0
TRIM35	23087	broad.mit.edu	37	8	27145295	27145295	+	Silent	SNP	C	T	T			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr8:27145295C>T	uc003xfl.1	-	6	1336	c.1254G>A	c.(1252-1254)TCG>TCA	p.S418S	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	418	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGACCAGGGGCGACGTGGCTG	0.667000													4	10					0	0	0.009096	0	0
TUBB2C	10383	broad.mit.edu	37	9	140136262	140136262	+	Silent	SNP	G	A	A			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr9:140136262G>A	uc004cmh.1	+	2	249	c.147G>A	c.(145-147)GTG>GTA	p.V49V	TUBB2C_uc004cmg.1_5'UTR	NM_006088	NP_006079	P68371	TBB2C_HUMAN	tubulin, beta, 2	49					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCATCAACGTGTACTACAATG	0.682000													5	39					0	0	0.001168	0	0
ATRX	546	broad.mit.edu	37	X	76813082	76813082	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chrX:76813082A>G	uc004ecp.3	-	30	6771	c.6539T>C	c.(6538-6540)GTA>GCA	p.V2180A	ATRX_uc004ecq.3_Missense_Mutation_p.V2142A|ATRX_uc004eco.3_Missense_Mutation_p.V1965A	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2180	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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CTGCTTAGTTACTTGCCGATC	0.348000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						37	23					0	0	0.004878	0	0
OR5T3	390154	broad.mit.edu	37	11	56020656	56020656	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:56020656delA	uc010rjd.1	+	1	981	c.981delA	c.(979-981)GTAfs	p.V327fs		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	327	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					ACAAAGAAGTAAAAAAGGCAG	0.323													18	59	---	---	---	---					
SETD7	80854	broad.mit.edu	37	4	140432891	140432892	+	Frame_Shift_Ins	INS	-	G	G	rs35259575		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr4:140432891_140432892insG	uc003ihw.2	-	8	1312_1313	c.1026_1027insC	c.(1024-1029)CCCGGGfs	p.P342fs		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	SET domain-containing protein 7	342_343					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.156)					CCACTCTTCCCGGGGGGGCTGT	0.609													22	96	---	---	---	---					
