Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MCM10	55388	broad.mit.edu	37	10	13222503	13222503	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr10:13222503C>G	ENST00000378694.1	+	6	901	c.826C>G	c.(826-828)Ctg>Gtg	p.L276V	MCM10_ENST00000484800.2_Missense_Mutation_p.L277V|MCM10_ENST00000378714.3_Missense_Mutation_p.L276V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	277					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACTGATCAGACTGTCTCAGAT	0.433000													29	76					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10681658	10681658	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr18:10681658G>A	ENST00000302079.6	-	46	7250	c.7251_splice	c.e46+1	p.T2417_splice	PIEZO2_ENST00000580640.1_Splice_Site_p.T2505_splice|PIEZO2_ENST00000285141.4_Splice_Site_p.T272_splice|PIEZO2_ENST00000538948.1_Splice_Site_p.T437_splice|PIEZO2_ENST00000503781.3_Splice_Site_p.T2480_splice			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2480						integral to membrane	ion channel activity	p.T2480T(1)|p.T272T(1)									ATTTACTTACGGTGTCCCTAG	0.413000													3	79					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558639	113558639	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr7:113558639C>A	ENST00000284601.3	-	1	481	c.413G>T	c.(412-414)gGg>gTg	p.G138V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	138	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACTTGTAGACCCAAGAAGAGA	0.368000													11	73					1.58986e-06	1.88565e-06	1	1	0
NMRAL1	57407	broad.mit.edu	37	16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572000													3	50					0	0	1	0	0
IGHV7-81	0	broad.mit.edu	37	14	107283098	107283098	+	RNA	SNP	T	T	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr14:107283098T>A	ENST00000390639.2	-	0	100																											AGTAGGTACCTGTGGAGAGGA	0.592000													28	88					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11597625	11597625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:11597625C>A	ENST00000293771.5	-	6	1550	c.1414G>T	c.(1414-1416)Gag>Tag	p.E472*	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CTGCAGCCCTCGTATGGGCAG	0.687000													4	15					0.150653	0.153667	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81142879	81142879	+	RNA	SNP	T	T	C			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:81142879T>C	ENST00000533478.1	-	0	5060				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAACGGAGTTTCCAACCAAAT	0.522000													4	13					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116715	53116715	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:53116715G>A	ENST00000597597.1	-	2	3356	c.1103C>T	c.(1102-1104)gCc>gTc	p.A368V	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.A368V|ZNF83_ENST00000544146.1_Missense_Mutation_p.A368V|ZNF83_ENST00000541777.2_Missense_Mutation_p.A368V|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.A368V|ZNF83_ENST00000301096.3_Missense_Mutation_p.A368V|ZNF83_ENST00000391789.4_Missense_Mutation_p.A340V			P51522	ZNF83_HUMAN	zinc finger protein 83	368						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTTCTCACCGGCATGAATTAT	0.403000													4	169					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86509292	86509292	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:86509292C>T	ENST00000165698.5	-	2	249		c.e2+1		REEP1_ENST00000540790.1_Splice_Site|REEP1_ENST00000538924.1_Splice_Site|REEP1_ENST00000473407.1_Splice_Site|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000541910.1_Splice_Site	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1						cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTGCTACTTACATATTCCTTA	0.463000													50	130					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42612159	42612159	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:42612159G>A	ENST00000276410.2	-	4	641	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	CHRNA6_ENST00000534622.1_Missense_Mutation_p.R81C|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	96						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGATCCCAGCGCAATTTATAA	0.403000													5	77					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307226	14307226	+	Silent	SNP	G	G	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr20:14307226G>A	ENST00000378053.3	-	2	1183	c.927C>T	c.(925-927)tgC>tgT	p.C309C	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.C309C	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	309	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TCTTGCACCCGCAATACCAGG	0.443000													4	117					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	407					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75513070	75513070	+	Silent	SNP	C	C	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:75513070C>T	ENST00000332272.4	-	3	836	c.657G>A	c.(655-657)gcG>gcA	p.A219A	CHST6_ENST00000390664.2_Silent_p.A219A|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	219					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGTTGTCACGCGCCAGAGCCT	0.721000													5	42					0	0	1	0	0
PCDHAC1	0	broad.mit.edu	37	5	140308830	140308830	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:140308830A>T	ENST00000253807.2	+	1	2353	c.2353A>T	c.(2353-2355)Act>Tct	p.T785S	PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.T785S|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCTTGCCACTGGGGTAGG	0.453000													6	89					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149075982	149075982	+	Silent	SNP	T	T	G			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr4:149075982T>G	ENST00000355292.3	-	5	2459	c.2097A>C	c.(2095-2097)ccA>ccC	p.P699P	NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Silent_p.P695P|NR3C2_ENST00000344721.4_Silent_p.P695P|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P699P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	695	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggCTGCT	0.532000													4	5					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|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(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								16	56					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			3	28					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													3	33					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1634415	1634415	+	Silent	SNP	G	G	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:1634415G>A	ENST00000409644.1	+	4	4020	c.4020G>A	c.(4018-4020)gcG>gcA	p.A1340A	WDR81_ENST00000437219.2_Silent_p.A137A|WDR81_ENST00000309182.5_Silent_p.A289A|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000419248.1_Silent_p.A113A|WDR81_ENST00000446363.1_5'UTR	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	113										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTAAGGAGGCGGGGCTGCTGG	0.657000													4	19					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56103869	56103869	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:56103869C>T	ENST00000394555.2	-	7	1204	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E257K|EFEMP1_ENST00000394554.1_Missense_Mutation_p.E257K	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	257	EGF-like 4; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCATCACATTCATTTATATCT	0.308000													18	62					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43414777	43414777	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:43414777G>T	ENST00000187910.2	-	3	726	c.661C>A	c.(661-663)Cca>Aca	p.P221T	PSG6_ENST00000402603.4_Missense_Mutation_p.P221T|PSG6_ENST00000292125.2_Missense_Mutation_p.P221T	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GCACTCACTGGGTTCCGTATT	0.502000													9	314					7.03913e-09	8.54751e-09	1	1	0
ZNF276	92822	broad.mit.edu	37	16	89799951	89799951	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:89799951G>A	ENST00000289816.5	+	8	1429	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ZNF276_ENST00000446326.2_Missense_Mutation_p.A234T|ZNF276_ENST00000443381.2_Missense_Mutation_p.A448T|ZNF276_ENST00000568064.1_Missense_Mutation_p.A356T	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTACCGAGGCGCTGACGGCAT	0.622000													16	43					0	0	1	0	0
SFTPC	6440	broad.mit.edu	37	8	22021426	22021426	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:22021426G>T	ENST00000521315.1	+	5	480	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000524255.1_Missense_Mutation_p.V103L|SFTPC_ENST00000318561.3_Missense_Mutation_p.V156L|SFTPC_ENST00000437090.2_3'UTR|SFTPC_ENST00000520605.1_Intron			P11686	PSPC_HUMAN	surfactant protein C	156	BRICHOS.				respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		caagcccgcagtgcctACGTC	0.597000													11	26					6.40141e-05	7.25493e-05	1	1	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	16					0	0	1	0	0
IKBKE	0	broad.mit.edu	37	1	206650070	206650070	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:206650070C>T	ENST00000367120.3	+	7	963	c.590C>T	c.(589-591)gCg>gTg	p.A197V	IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.A112V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	197	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CAGCAAAAAGCGTTCGGGGTG	0.617000													3	39					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000													4	40					0.00909568	0.00986978	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189864272	189864272	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:189864272G>T	ENST00000304636.3	+	31	2368	c.2198G>T	c.(2197-2199)gGt>gTt	p.G733V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G733V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	733	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAAAGAGGAGGTCTTGGAAGT	0.448000													7	41					0.00198382	0.00219945	1	1	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	28					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87072723	87072723	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr7:87072723T>C	ENST00000265723.4	-	12	1379	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R	ABCB4_ENST00000453593.1_Missense_Mutation_p.Q423R|ABCB4_ENST00000545634.1_Missense_Mutation_p.Q423R|ABCB4_ENST00000359206.3_Missense_Mutation_p.Q423R|ABCB4_ENST00000358400.3_Missense_Mutation_p.Q423R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	423	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GGCCACCGTCTGCCCACTCTG	0.498000													49	124					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62708580	62708580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr12:62708580C>T	ENST00000280377.5	+	4	416	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	USP15_ENST00000312635.6_Nonsense_Mutation_p.Q120*|USP15_ENST00000393654.3_Nonsense_Mutation_p.Q120*|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Nonsense_Mutation_p.Q120*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	120					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGTGGTTGAACAGGGTATGTT	0.303000													32	233					0	0	1	0	0
NQO1	1728	broad.mit.edu	37	16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	ACAAGGTCTGCGGCTTCCAGC	0.488000													4	205					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32740031	32740031	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:32740031G>A	ENST00000333070.4	+	2	201	c.101G>A	c.(100-102)gGc>gAc	p.G34D	LCK_ENST00000373564.3_Missense_Mutation_p.G34D|LCK_ENST00000336890.5_Missense_Mutation_p.G34D	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	34	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GATGGCAAGGGCACGGTAAGA	0.532000			T	TRB@	T-ALL								14	26					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924248	105924248	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:105924248G>C	ENST00000393359.2	-	2	937	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.L171V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	171	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCACAGCGAGGGGCTGCTCG	0.557000													43	101					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226830	158226830	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:158226830G>A	ENST00000289429.5	+	4	1392	c.859G>A	c.(859-861)Ggc>Agc	p.G287S		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	287	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGTCTAGAGGGCCAGGACAT	0.597000													3	56					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12969474	12969474	+	Silent	SNP	C	C	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:12969474C>T	ENST00000251472.4	+	12	1326	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	MAST1_ENST00000591495.1_Silent_p.A425A	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	429	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACCTTCGCCGAGAACCCGT	0.572000													15	37					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65245298	65245298	+	Silent	SNP	C	C	T			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:65245298C>T	ENST00000234256.3	+	6	1371	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	SLC1A4_ENST00000531327.1_Silent_p.T78T	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	376					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCGGGGCCACCGTGAACATGG	0.517000													29	47					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													6	9					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070470	114070478	+	In_Frame_Del	DEL	TGCACTGAC	TGCACTGAC	-			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr3:114070470_114070478delTGCACTGAC	ENST00000462705.1	-	11	1049_1057	c.228_236delGTCAGTGCA	c.(226-237)caa>ca	p.QSVQ76del	ZBTB20_ENST00000393785.2_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.QSVQ149del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.QSVQ76del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.QSVQ76del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V78G(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AATGAGCTTTTGCACTGACTGCACTGACA	0.598													12	59	---	---	---	---					
PPP2R5D	5528	broad.mit.edu	37	6	42975734	42975734	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr6:42975734delA	ENST00000485511.1	+	7	967	c.788delA	c.(787-789)ctfs	p.H263fs	PPP2R5D_ENST00000394110.3_Frame_Shift_Del_p.H231fs|PPP2R5D_ENST00000461010.1_Frame_Shift_Del_p.H157fs|PPP2R5D_ENST00000472118.1_Frame_Shift_Del_p.H255fs	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	263					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACCATTTTGCATCGCATCTAT	0.542													16	79	---	---	---	---					
AE000661.37	0	broad.mit.edu	37	14	22933391	22933391	+	RNA	DEL	C	C	-	rs36090939		TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr14:22933391delC	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							TTAGAAATGGCTAAGAAACCA	0.408													7	5	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													3	6	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938182	76938183	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-TQ-A7RV-02A-11D-A36O-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	feee6c8a-5011-4b94-8af6-5525449fac12	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chrX:76938182_76938183delTG	ENST00000373344.5	-	9	2779_2780	c.2565_2566delCA	c.(2563-2568)cagcfs	p.HS855fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.HS817fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	855					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	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTTTTTTGCTGTGTTTCTCAT	0.356			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						10	78	---	---	---	---