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
CDKN2C	1031	broad.mit.edu	37	1	51439758	51439758	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:51439758A>G	uc001csf.2	+	3	1539	c.323A>G	c.(322-324)CAC>CGC	p.H108R	CDKN2C_uc001csg.2_Missense_Mutation_p.H108R	NM_001262	NP_001253	P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C	108	ANK 4.				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(4)|p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CTGCCCTTGCACTTGGCTGCC	0.552000			D		glioma|MM				Multiple_Endocrine_Neoplasia_type_1				9	9					0	0	0.307466	0	0
RAVER2	55225	broad.mit.edu	37	1	65268661	65268661	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:65268661G>A	uc001dbs.1	+	6	1186	c.1108G>A	c.(1108-1110)GTT>ATT	p.V370I	RAVER2_uc001dbt.1_Missense_Mutation_p.V249I|RAVER2_uc010opb.1_Missense_Mutation_p.V249I	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	370						cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						tCTCAAAGCCGTTCTTGGAAC	0.279000													3	38					0	0	0.115264	0	0
TNN	63923	broad.mit.edu	37	1	175116071	175116071	+	Missense_Mutation	SNP	T	G	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:175116071T>G	uc001gkl.1	+	19	3877	c.3764T>G	c.(3763-3765)GTG>GGG	p.V1255G		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1255	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGTAGGGGGTGAACTGGGAG	0.448000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	37					0	0	0.387290	0	0
IDI1	3422	broad.mit.edu	37	10	1089327	1089327	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr10:1089327A>G	uc001iga.2	-	3	438	c.320T>C	c.(319-321)TTG>TCG	p.L107S	C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron|IDI1_uc001ifz.2_Missense_Mutation_p.L51S|IDI1_uc001igb.2_RNA|IDI1_uc001igc.2_Missense_Mutation_p.L51S	NM_004508	NP_004499	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase	50	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGCTCGATGCAATAATCCTGA	0.348000													19	27					0	0	0.592651	0	0
AP2A2	161	broad.mit.edu	37	11	992664	992664	+	Silent	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr11:992664C>T	uc001lss.2	+	11	1612	c.1431C>T	c.(1429-1431)TAC>TAT	p.Y477Y	AP2A2_uc001lst.1_Silent_p.Y478Y|AP2A2_uc009yco.1_RNA|AP2A2_uc009ycq.1_Silent_p.Y68Y	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	477					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCAGGGCTACGCGGCCAAGA	0.567000													3	51					0	0	0.150653	0	0
DAO	1610	broad.mit.edu	37	12	109294236	109294236	+	Silent	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr12:109294236C>T	uc001tnr.3	+	11	1122	c.969C>T	c.(967-969)GCC>GCT	p.A323A	DAO_uc001tnq.3_Silent_p.A257A|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	323					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						GGGGATGTGCCCTGGAGGCAG	0.572000													18	90					0	0	0.539581	0	0
OR4K15	81127	broad.mit.edu	37	14	20444378	20444378	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:20444378C>T	uc010tkx.1	+	1	701	c.701C>T	c.(700-702)TCC>TTC	p.S234F		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	234	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTGAGTTCCTTTCTCCTC	0.453000													42	97					0	0	0.834066	0	0
CHD8	57680	broad.mit.edu	37	14	21868155	21868155	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:21868155C>T	uc001was.1	-	25	4059	c.3965G>A	c.(3964-3966)GGG>GAG	p.G1322E	CHD8_uc001war.1_Missense_Mutation_p.G1218E|SNORD8_uc001wau.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1601					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATCGCACCCCCTAACACCTT	0.423000													71	180					0	0	0.870114	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420366	105420366	+	Silent	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:105420366G>A	uc010axc.1	-	7	1542	c.1422C>T	c.(1420-1422)GGC>GGT	p.G474G	AHNAK2_uc001ypx.2_Silent_p.G374G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	474						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAATCTGTGTGCCTCCTTCGG	0.522000													8	48					0	0	0.307466	0	0
SPTBN5	51332	broad.mit.edu	37	15	42164528	42164528	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr15:42164528G>A	uc001zos.2	-	27	5365	c.5032C>T	c.(5032-5034)CGG>TGG	p.R1678W		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1713	Spectrin 13.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCAGTGCCCGCAGCTGCTCC	0.637000													8	16					0	0	0.278610	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274157	39274157	+	Silent	SNP	G	A	A	rs145503152		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr17:39274157G>A	uc002hvz.2	-	1	450	c.411C>T	c.(409-411)CCC>CCT	p.P137P		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	137	23.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tgctgcagctggggtggcagc	0.109000													7	34					0	0	0.361761	0	0
LAMA3	3909	broad.mit.edu	37	18	21330907	21330907	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr18:21330907G>A	uc002kuq.2	+	5	796	c.710G>A	c.(709-711)CGT>CAT	p.R237H	LAMA3_uc010dlv.1_Missense_Mutation_p.R237H|LAMA3_uc002kur.2_Missense_Mutation_p.R237H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	237	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAAACGGTCGTCCAGGTGCA	0.393000													51	81					0	0	0.870114	0	0
C19orf21	126353	broad.mit.edu	37	19	757295	757295	+	Missense_Mutation	SNP	G	C	C			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:757295G>C	uc002lpo.2	+	2	432	c.349G>C	c.(349-351)GAG>CAG	p.E117Q		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	117										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGACGGGGAGGACAAGGA	0.667000													12	21					0	0	0.387290	0	0
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:42791758G>A	uc002otf.1	+	5	684	c.644G>A	c.(643-645)CGG>CAG	p.R215Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	215	HMG box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612000			T	DUX4	soft tissue sarcoma								21	15					0	0	0.592651	0	0
NLRP9	338321	broad.mit.edu	37	19	56249567	56249567	+	Silent	SNP	C	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:56249567C>A	uc002qly.2	-	1	202	c.174G>T	c.(172-174)CTG>CTT	p.L58L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	58	DAPIN.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTGTCCAGCAGCTTTGCTA	0.458000													173	158					2.1706e-81	2.28484e-81	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179433152	179433152	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:179433152C>T	uc010zfg.1	-	275	70227	c.70003G>A	c.(70003-70005)GTC>ATC	p.V23335I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17030I|TTN_uc010zfi.1_Missense_Mutation_p.V16963I|TTN_uc010zfj.1_Missense_Mutation_p.V16838I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24262							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCACTGACGTCATCAAAT	0.403000													8	40					0	0	0.278610	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	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 								19	63					0	0	0.592651	0	0
UMODL1	89766	broad.mit.edu	37	21	43519136	43519136	+	Silent	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr21:43519136C>T	uc002zaf.1	+	7	1032	c.1032C>T	c.(1030-1032)GTC>GTT	p.V344V	UMODL1_uc002zad.1_Silent_p.V272V|UMODL1_uc002zae.1_Silent_p.V272V|UMODL1_uc002zag.1_Silent_p.V344V|UMODL1_uc010gow.1_Silent_p.V136V|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Silent_p.V89V	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	344	Extracellular (Potential).|Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						CTTTCCATGTCCGGGTTTACC	0.542000													32	59					0	0	0.750413	0	0
Unknown	0	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	A	A	rs9306211		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr22:18846098G>A	uc002zoe.2	+	5		c.2460G>A			uc002zof.2_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ATGCCTCGGCGCTCGATCTCC	0.622000													4	58					0	0	0.184627	0	0
ITPR1	3708	broad.mit.edu	37	3	4725122	4725122	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:4725122C>T	uc003bqa.2	+	27	3535	c.3187C>T	c.(3187-3189)CGT>TGT	p.R1063C	ITPR1_uc010hca.1_Missense_Mutation_p.R1048C|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_5'UTR	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1072	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACCTTTCTCCGTGTCCTGCT	0.582000													63	129					0	0	0.870114	0	0
MYLK	4638	broad.mit.edu	37	3	123419711	123419711	+	Silent	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:123419711G>A	uc003ego.2	-	18	2886	c.2604C>T	c.(2602-2604)GAC>GAT	p.D868D	MYLK_uc011bjw.1_Silent_p.D868D|MYLK_uc003egp.2_Silent_p.D799D|MYLK_uc003egq.2_Silent_p.D868D|MYLK_uc003egr.2_Silent_p.D799D|MYLK_uc003egs.2_Silent_p.D692D|MYLK_uc003egt.2_Silent_p.D59D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	868	5 X 28 AA approximate tandem repeats.|1-1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCCTCGCACGTCCTCGCCGT	0.652000													31	74					0	0	0.804634	0	0
LOC401127	401127	broad.mit.edu	37	4	39482584	39482584	+	RNA	SNP	T	C	C	rs17438520	by1000genomes	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr4:39482584T>C	uc011byn.1	+	1		c.710T>C			LOC401127_uc011byo.1_RNA	NR_026854				Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.												0						GCCACAAGACTGCTAGCTCAC	0.453000													3	32					0	0	0.115264	0	0
MARCH1	55016	broad.mit.edu	37	4	164450155	164450155	+	Silent	SNP	G	C	C			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr4:164450155G>C	uc003iqs.1	-	8	1592	c.615C>G	c.(613-615)GCC>GCG	p.A205A	MARCH1_uc003iqr.1_Silent_p.A188A	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN	membrane-associated RING-CH protein I	205	Helical; (Potential).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAAGCCAATGGCTACCACAA	0.438000													3	45					0	0	0.150653	0	0
TIFAB	497189	broad.mit.edu	37	5	134785348	134785348	+	Silent	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:134785348C>T	uc003law.3	-	2	483	c.282G>A	c.(280-282)CTG>CTA	p.L94L	C5orf20_uc003lav.2_5'Flank	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	TIFA-related protein TIFAB	94											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACCTGCTCCAGGTACCTCA	0.607000													49	108					0	0	0.870114	0	0
TRPC7	57113	broad.mit.edu	37	5	135693009	135693009	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:135693009G>A	uc003lbn.1	-	1	67	c.64C>T	c.(64-66)CGC>TGC	p.R22C	TRPC7_uc010jef.1_Missense_Mutation_p.R14C|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R14C|TRPC7_uc010jei.1_Missense_Mutation_p.R14C|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	23	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGCCTGGCGACGGCCCTTC	0.587000													37	52					0	0	0.779181	0	0
CYP21A2	1589	broad.mit.edu	37	6	31975129	31975129	+	Silent	SNP	T	C	C	rs113153064		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr6:31975129T>C	uc010jtp.2	+	8	940	c.822T>C	c.(820-822)TCT>TCC	p.S274S	CYP21A2_uc011dpb.1_Silent_p.S244S			P08686	CP21A_HUMAN	SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;	273					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						AAGAGGGCTCTGGACAGCTCC	0.607000													4	82					0	0	0.150653	0	0
SSPO	23145	broad.mit.edu	37	7	149486800	149486800	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr7:149486800C>T	uc010lpk.2	+	31	4574	c.4574C>T	c.(4573-4575)CCG>CTG	p.P1525L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1525	LDL-receptor class A 4.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GATGAGGGGCCGGGACACTGC	0.682000													13	28					0	0	0.457914	0	0
FLJ10661	286042	broad.mit.edu	37	8	8094726	8094726	+	RNA	SNP	G	A	A	rs2945249	by1000genomes	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr8:8094726G>A	uc011kwt.1	+	7		c.955G>A			FLJ10661_uc010lrq.2_RNA|FLJ10661_uc003wsf.3_RNA	NR_024362				Homo sapiens cDNA FLJ60033 complete cds, highly similar to Protein FAM86A.												0						GAGCACCAGCGGGCTTCTGAG	0.612000													3	19					0	0	0.115264	0	0
ADCY8	114	broad.mit.edu	37	8	131922058	131922058	+	Silent	SNP	G	A	A	rs150100724		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr8:131922058G>A	uc003ytd.3	-	6	1792	c.1536C>T	c.(1534-1536)TCC>TCT	p.S512S	ADCY8_uc010mds.2_Silent_p.S512S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	512	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACCGAGCCGGAGTGGATTC	0.473000										HNSCC(32;0.087)			5	113					0	0	0.184627	0	0
Unknown	0	broad.mit.edu	37	9	43816717	43816717	+	RNA	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr9:43816717G>A	uc004acz.1	+	6		c.1055G>A								Homo sapiens cDNA FLJ30083 fis, clone BGGI12001097, weakly similar to Homo sapiens contactin associated protein (Caspr) mRNA.																		CTGGCATTCCGTCCTCATCGA	0.493000													9	45					0	0	0.500413	0	0
FUBP1	8880	broad.mit.edu	37	1	78426058	78426059	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:78426058_78426059insT	uc001dii.2	-	15	1555_1556	c.1466_1467insA	c.(1465-1467)TATfs	p.Y489fs	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Frame_Shift_Ins_p.Y510fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	489	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						GTCCAGGATTATAAGGTGCAGG	0.545													13	7	---	---	---	---					
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr13:60582733_60582734insT	uc001vht.2	-	9	1177_1178	c.958_959insA	c.(958-960)ATTfs	p.I320fs	DIAPH3_uc001vhu.2_Frame_Shift_Ins_p.I57fs|DIAPH3_uc001vhw.1_Frame_Shift_Ins_p.I309fs|DIAPH3_uc010aed.1_Frame_Shift_Ins_p.I274fs|DIAPH3_uc010aee.1_Frame_Shift_Ins_p.I250fs	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	320	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322													7	144	---	---	---	---					
RNF151	146310	broad.mit.edu	37	16	2018730	2018730	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr16:2018730delC	uc002cnt.1	+	4	550	c.542delC	c.(541-543)TCCfs	p.S181fs		NM_174903	NP_777563	Q2KHN1	RN151_HUMAN	ring finger protein 151	181					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding				0						CTGCTGCTGTCCCTCCTGCGG	0.687													2	4	---	---	---	---					
LOC222699	222699	broad.mit.edu	37	6	28185356	28185356	+	RNA	DEL	G	-	-	rs71762698		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr6:28185356delG	uc011dla.1	-	1		c.1352delC				NR_002936				Homo sapiens pp14762 mRNA, complete cds.												0						ttttttttttggcctttcctt	0.358													2	4	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	Frame_Shift_Del	DEL	AGAGCTCC	-	-			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr7:74300557_74300564delAGAGCTCC	uc003ubj.3	-	5	625_632	c.243_250delGGAGCTCT	c.(241-252)CTGGAGCTCTTCfs	p.L81fs	STAG3L2_uc011kfj.1_RNA	NM_001025202	NP_001020373	P0CL84	ST3L2_HUMAN	STAG3-like	81_84	SCD.					nucleus	binding				0						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													4	4	---	---	---	---					
