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
VWF	7450	broad.mit.edu	37	12	6155976	6155976	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:6155976C>T	uc001qnn.1	-	17	2444	c.2194G>A	c.(2194-2196)GAG>AAG	p.E732K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	732					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AAGCCATCCTCACAGTAGCTG	0.338000													3	30					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94901781	94901781	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr15:94901781G>A	uc002btj.2	+	9	1306	c.1241G>A	c.(1240-1242)GGC>GAC	p.G414D	MCTP2_uc010urg.1_Silent_p.G392G|MCTP2_uc002bti.2_Missense_Mutation_p.G414D|MCTP2_uc010boj.2_Missense_Mutation_p.G143D|MCTP2_uc010bok.2_Missense_Mutation_p.G414D|MCTP2_uc002btk.3_Missense_Mutation_p.G2D|MCTP2_uc002btl.2_Missense_Mutation_p.G2D	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	414	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACAGGATGGGCATTTTGGAC	0.453000													15	25					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7250531	7250531	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7250531C>T	uc002ggd.2	+	14	1519	c.1313C>T	c.(1312-1314)ACC>ATC	p.T438I		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	438	Arf-GAP.|C4-type.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						CTTGGTGTCACCCTCTGCATT	0.642000													26	14					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7578203C>T	uc002gim.2	-	6	840	c.646G>A	c.(646-648)GTG>ATG	p.V216M	TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.2_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.1_Missense_Mutation_p.V177M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	216	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (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.V216M(49)|p.V216del(8)|p.0?(7)|p.V216L(7)|p.V216E(4)|p.V216G(3)|p.V216A(3)|p.V216fs*6(2)|p.V216fs*31(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(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)		GGCACCACCACACTATGTCGA	0.537000		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	4					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8424575	8424575	+	Silent	SNP	G	A	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:8424575G>A	uc002gll.2	-	16	1989	c.1893C>T	c.(1891-1893)GTC>GTT	p.V631V	MYH10_uc002glm.2_Silent_p.V662V|MYH10_uc010cnx.2_Silent_p.V640V	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	631	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TCATACCAGTGACTTGATCCA	0.463000													32	63					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4556083	4556083	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr19:4556083C>T	uc010duc.1	-	5	426	c.388G>A	c.(388-390)GTA>ATA	p.V130I	SEMA6B_uc010dud.2_Missense_Mutation_p.V130I|SEMA6B_uc010xih.1_Missense_Mutation_p.V130I	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	130	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCTTTACGAAGTTTCGA	0.607000													6	32					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr19:58385546G>T	uc002qqo.2	-	3	1484	c.1212C>A	c.(1210-1212)GAC>GAA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGTTTTTTGTCAGTGTGAA	0.393000													3	13					0.004672	0.004672	1	1	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	G	G	rs115341812	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:114357557A>G	uc010yxx.1	-	3	709	c.382T>C	c.(382-384)TAG>CAG	p.*128Q						SubName: Full=DEAD/H box polypeptide 11 like 2;												0						GCCTACTTCTAGTGAAACTGG	0.567000													3	19					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170093662	170093662	+	Missense_Mutation	SNP	T	C	C	rs140722973	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:170093662T>C	uc002ues.2	-	28	4855	c.4642A>G	c.(4642-4644)AGT>GGT	p.S1548G		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1548	LDL-receptor class B 11.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGTTTTTACTAATCAGCACA	0.383000													37	60					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	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 								18	35					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85612906	85612906	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr4:85612906T>C	uc003hpd.2	-	60	9490	c.9082A>G	c.(9082-9084)ACA>GCA	p.T3028A	WDFY3_uc003hpe.1_Missense_Mutation_p.T639A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	3028						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTTTATCTGTACATACGATT	0.388000													21	36					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43403556	43403556	+	Missense_Mutation	SNP	A	G	G	rs114002465	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:43403556A>G	uc003ouy.1	+	5	1891	c.1676A>G	c.(1675-1677)AAT>AGT	p.N559S	ABCC10_uc003ouz.1_Missense_Mutation_p.N516S|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	559	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGGTGATCAATGGTCTCCTG	0.572000													26	40					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990506	63990506	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:63990506C>T	uc003peh.2	-	4	984	c.950G>A	c.(949-951)AGT>AAT	p.S317N	LGSN_uc003pei.2_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	317					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	ATCCCAGAGACTATGAGACAA	0.433000													22	37					0	0	1	0	0
Unknown	0	broad.mit.edu	37	7	64498755	64498755	+	RNA	SNP	G	C	C			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr7:64498755G>C	uc003ttt.1	+	1		c.24G>C			uc010kzt.1_RNA					Homo sapiens cDNA clone IMAGE:4215179, partial cds.																		gcaggatggcgacggcCGTCC	0.393000													3	6					0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100469261	100469261	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr7:100469261G>A	uc003uww.2	+	7	1266	c.1096G>A	c.(1096-1098)GTG>ATG	p.V366M		NM_003302	NP_003293	Q15654	TRIP6_HUMAN	thyroid receptor-interacting protein 6	366	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTCACCTGCGTGGTGTGTCA	0.632000													21	45					0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702697	40702697	+	Silent	SNP	C	T	T			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr9:40702697C>T	uc010mmj.2	+	4	383	c.354C>T	c.(352-354)TCC>TCT	p.S118S		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	hypothetical protein LOC727830	118						integral to membrane				ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCAGCTCTCCGGTCCAGACC	0.632000													20	63					0	0	1	0	0
Unknown	0	broad.mit.edu	37	9	43828112	43828112	+	RNA	SNP	A	G	G	rs150656228	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr9:43828112A>G	uc004acz.1	+	9		c.1600A>G								Homo sapiens cDNA FLJ30083 fis, clone BGGI12001097, weakly similar to Homo sapiens contactin associated protein (Caspr) mRNA.																		GGCACTCTGTATCCTTCTCTG	0.458000													4	36					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940489	76940489	+	Nonsense_Mutation	SNP	T	A	A			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:76940489T>A	uc004ecp.3	-	8	836	c.604A>T	c.(604-606)AAG>TAG	p.K202*	ATRX_uc004ecq.3_Nonsense_Mutation_p.K164*|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Nonsense_Mutation_p.K163*|ATRX_uc010nlx.1_Nonsense_Mutation_p.K202*|ATRX_uc010nly.1_Nonsense_Mutation_p.K147*	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	202	ADD.|GATA-type; atypical.				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)	ATGTAATACTTAAAGCAATTC	0.234000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						49	8					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432487	135432487	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:135432487G>C	uc004ezu.1	+	6	6913	c.6622G>C	c.(6622-6624)GTG>CTG	p.V2208L	GPR112_uc010nsb.1_Missense_Mutation_p.V2003L|GPR112_uc010nsc.1_Missense_Mutation_p.V1975L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2208	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TACAGCAACTGTGTCTTCACC	0.453000													5	55					0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	C	C	rs17857448		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:7080212_7080213insC	uc001qsh.3	+	2	272	c.129_splice	c.e2+1	p.L43_splice	PHB2_uc001qsd.2_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_RNA|EMG1_uc010sfv.1_RNA	NM_006331	NP_006322	Q92979	NEP1_HUMAN	ribosome biogenesis protein NEP1						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding				0						GAGGCCGTAGTTTATTGTGGTG	0.569													4	8	---	---	---	---					
