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
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	Missense_Mutation	SNP	G	A	A	rs11260887	by1000genomes	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:17023110G>A	uc001azn.1	-	10	1754	c.1640C>T	c.(1639-1641)CCG>CTG	p.P547L		NR_026567				RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein;												0						GTTGAGCAGCGGCTGAAACCC	0.687000													3	19					0	0	0.004672	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049199	42049199	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:42049199G>A	uc001cgz.3	-	4	2483	c.1270C>T	c.(1270-1272)CGA>TGA	p.R424*	HIVEP3_uc001cha.3_Nonsense_Mutation_p.R424*|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	424	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTCCTATTCGCCCACACTTG	0.607000													20	44					0	0	0.007413	0	0
FLAD1	80308	broad.mit.edu	37	1	154965246	154965246	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:154965246A>G	uc001fgf.1	+	6	1966	c.1612A>G	c.(1612-1614)ATC>GTC	p.I538V	FLAD1_uc001fge.1_Missense_Mutation_p.I441V|FLAD1_uc001fgg.1_Missense_Mutation_p.I441V|FLAD1_uc001fgh.1_Intron|LENEP_uc001fgi.2_5'Flank	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	538	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCATACTGTATCCTGTATGA	0.502000													38	58					0	0	0.006230	0	0
SCD	6319	broad.mit.edu	37	10	102120548	102120548	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr10:102120548A>C	uc001kqy.2	+	6	1428	c.938A>C	c.(937-939)TAC>TCC	p.Y313S		NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase 1	313	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCCAGTGAGTACCGCTGGCAC	0.527000													5	96					0	0	0.000602	0	0
PACS1	55690	broad.mit.edu	37	11	65988687	65988687	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:65988687A>G	uc001oha.1	+	10	1396	c.1262A>G	c.(1261-1263)AAA>AGA	p.K421R		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	421					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6						CTCAACAGCAAAGGCAGCCTC	0.642000													5	86					0	0	0.000602	0	0
DHCR7	1717	broad.mit.edu	37	11	71152414	71152414	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:71152414G>A	uc001oqk.2	-	6	735	c.485C>T	c.(484-486)GCT>GTT	p.A162V	DHCR7_uc001oql.2_Missense_Mutation_p.A162V	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	162	Helical; (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	CAGGAGATGAGCGTTTGCAAA	0.547000									Smith-Lemli-Opitz_syndrome				3	33					0	0	0.004672	0	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:31237922G>C	uc001rjt.1	+	5	751	c.500G>C	c.(499-501)AGA>ACA	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)			3	11					0	0	0.004672	0	0
FGD6	55785	broad.mit.edu	37	12	95604907	95604907	+	Silent	SNP	T	G	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:95604907T>G	uc001tdp.3	-	2	377	c.153A>C	c.(151-153)GCA>GCC	p.A51A	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	51					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						TTGGGGCTATTGCTGGTTTCA	0.458000													105	171					0	0	0.014410	0	0
CDR2	1039	broad.mit.edu	37	16	22359074	22359074	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr16:22359074C>G	uc002dkn.2	-	5	885	c.577G>C	c.(577-579)GAG>CAG	p.E193Q		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	193	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		TCATTTTCCTCTTCATCAGGG	0.458000													57	60					0	0	0.014410	0	0
Unknown	0	broad.mit.edu	37	16	32077672	32077672	+	RNA	SNP	G	C	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr16:32077672G>C	uc010vfu.1	+	1		c.114G>C								Homo sapiens mRNA for immunoglobulin heavy chain, VHDJH rearrangement : VHLI26.																		GTGTATTACTGTGTGAAACAC	0.557000													64	239					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:7577551C>G	uc002gim.2	-	7	924	c.730G>C	c.(730-732)GGC>CGC	p.G244R	TP53_uc002gig.1_Missense_Mutation_p.G244R|TP53_uc002gih.2_Missense_Mutation_p.G244R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112R|TP53_uc010cng.1_Missense_Mutation_p.G112R|TP53_uc002gii.1_Missense_Mutation_p.G112R|TP53_uc010cnh.1_Missense_Mutation_p.G244R|TP53_uc010cni.1_Missense_Mutation_p.G244R|TP53_uc002gij.2_Missense_Mutation_p.G244R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151R|TP53_uc002gio.2_Missense_Mutation_p.G112R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	244	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and 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.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(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)		TTCATGCCGCCCATGCAGGAA	0.582000		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)			52	11					0	0	0.014410	0	0
C17orf47	284083	broad.mit.edu	37	17	56620284	56620284	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:56620284C>T	uc002iwq.1	-	1	1400	c.1264G>A	c.(1264-1266)GGA>AGA	p.G422R	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	422										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTCAGGTCCGTACCTAGGT	0.547000													38	64					0	0	0.005524	0	0
Unknown	0	broad.mit.edu	37	19	23405580	23405580	+	Silent	SNP	T	C	C	rs10412126	by1000genomes	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr19:23405580T>C	uc010xri.1	-	4	1585	c.1467A>G	c.(1465-1467)CTA>CTG	p.L489L						SubName: Full=cDNA FLJ56866, moderately similar to Zinc finger protein 43;																		GGTGTGAGGATAGGTTAAAAG	0.383000													4	40					0	0	0.009096	0	0
PAPL	390928	broad.mit.edu	37	19	39591277	39591277	+	Missense_Mutation	SNP	G	C	C	rs149656463	byFrequency	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr19:39591277G>C	uc002oki.2	+	6	961	c.687G>C	c.(685-687)TGG>TGC	p.W229C	PAPL_uc010egl.2_Missense_Mutation_p.G188A	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	229						extracellular region	acid phosphatase activity|metal ion binding				0						AGGGCCTGTGGTACAGGTAAT	0.572000													38	62					0	0	0.009718	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	C	C	rs121913499		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr2:209113113G>C	uc002vcs.2	-	4	640	c.394C>G	c.(394-396)CGT>GGT	p.R132G	IDH1_uc002vct.2_Missense_Mutation_p.R132G|IDH1_uc002vcu.2_Missense_Mutation_p.R132G	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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma 								24	45					0	0	0.003330	0	0
ADRA1D	146	broad.mit.edu	37	20	4202427	4202427	+	Silent	SNP	G	T	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:4202427G>T	uc002wkr.2	-	2	1517	c.1462C>A	c.(1462-1464)CGA>AGA	p.R488R		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	488	Cytoplasmic (By similarity).				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GGTGGCTTTCGACGGCTGGCG	0.736000													6	5					2.7689e-08	3.11501e-08	0.001984	1	0
FRG1B	284802	broad.mit.edu	37	20	29624070	29624070	+	Missense_Mutation	SNP	G	A	A	rs79198850		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:29624070G>A	uc010ztl.1	+	1	36	c.4G>A	c.(4-6)GCT>ACT	p.A2T	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						GCAGTTTATGGCTGTCAAATT	0.269000													4	16					0	0	0.003080	0	0
CDH4	1002	broad.mit.edu	37	20	60419758	60419758	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:60419758G>A	uc002ybn.1	+	5	625	c.611G>A	c.(610-612)CGG>CAG	p.R204Q	CDH4_uc002ybp.1_Missense_Mutation_p.R130Q	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	204	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCCCCATCCGGTACAGCATC	0.607000													9	58					0	0	0.008291	0	0
C20orf135	140701	broad.mit.edu	37	20	62493607	62493607	+	Silent	SNP	C	T	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:62493607C>T	uc002ygx.1	+	1	1042	c.714C>T	c.(712-714)CCC>CCT	p.P238P	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	238							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ACTTCCCGCCCGCGCACCTGG	0.687000													7	6					0	0	0.004482	0	0
KCNH8	131096	broad.mit.edu	37	3	19389439	19389439	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:19389439G>A	uc003cbk.1	+	5	988	c.793G>A	c.(793-795)GAG>AAG	p.E265K	KCNH8_uc011awe.1_Missense_Mutation_p.E265K|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	265	Helical; Name=Segment S2; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CATTGCAGTGGAGATTCTTTT	0.393000													32	70					0	0	0.013726	0	0
CASR	846	broad.mit.edu	37	3	122002611	122002611	+	Missense_Mutation	SNP	G	A	A	rs104893712		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:122002611G>A	uc003eev.3	+	7	2182	c.1810G>A	c.(1810-1812)GAG>AAG	p.E604K	CASR_uc003eew.3_Missense_Mutation_p.E614K	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	604	Extracellular (Potential).		E -> K (in FIH; there is a significant leftward shift in the concentration response curves for the effects of extracellular calcium on both intracellular calcium mobilization and MAPK activity).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGGAGATCGAGTTTCTGTC	0.517000													14	55					0	0	0.001855	0	0
TLR3	7098	broad.mit.edu	37	4	187004365	187004365	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr4:187004365A>G	uc003iyq.2	+	4	1626	c.1525A>G	c.(1525-1527)ACC>GCC	p.T509A	TLR3_uc011ckz.1_Missense_Mutation_p.T232A|TLR3_uc003iyr.2_Missense_Mutation_p.T232A	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	509	Lumenal (Potential).|LRR 18.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCGTAACTTGACCATTCTGGA	0.443000													51	63					0	0	0.014410	0	0
ATRX	546	broad.mit.edu	37	X	76814319	76814319	+	Splice_Site	SNP	T	C	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chrX:76814319T>C	uc004ecp.3	-	29	6559	c.6327_splice	c.e29-1	p.R2109_splice	ATRX_uc004ecq.3_Splice_Site_p.R2071_splice|ATRX_uc004eco.3_Splice_Site_p.R1894_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1						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)	AATCGTCCTCTGAAAATGAAA	0.274000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						21	9					0	0	0.012319	0	0
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	T	T	rs77980773		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:88512304_88512305insT	uc001tar.2	-	17	2010_2011	c.1666_1667insA	c.(1666-1668)ATTfs	p.I556fs	CEP290_uc001tat.2_Frame_Shift_Ins_p.I318fs|CEP290_uc009zsl.1_RNA	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	556	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CATTTGACGAATTTTTTTTTTC	0.312													4	3	---	---	---	---					
