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
ST8SIA6	338596	broad.mit.edu	37	10	17369109	17369109	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr10:17369109T>G	ENST00000377602.4	-	6	613	c.539A>C	c.(538-540)gAc>gCc	p.D180A		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	180					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ATAAGGGTAGTCCACAAAAGG	0.388000													47	85					0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66813414	66813414	+	Silent	SNP	T	T	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr15:66813414T>C	ENST00000307897.5	+	7	998	c.618T>C	c.(616-618)taT>taC	p.Y206Y	ZWILCH_ENST00000446801.2_Silent_p.Y92Y|RPL4_ENST00000568588.1_Intron|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_Silent_p.Y92Y|ZWILCH_ENST00000565627.1_Silent_p.Y92Y	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	206					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTGCCCAGTATGAGCTCTTTA	0.433000													51	477					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82369294	82369294	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr4:82369294T>C	ENST00000509081.1	-	5	801	c.580A>G	c.(580-582)Ata>Gta	p.I194V	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.I153V|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.I195V			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	195					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TCCCTTTGTATAGACTGTGGC	0.502000													42	168					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26697436	26697436	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr2:26697436A>G	ENST00000272371.2	-	26	3359	c.3233T>C	c.(3232-3234)aTc>aCc	p.I1078T	OTOF_ENST00000402415.3_Missense_Mutation_p.I388T|OTOF_ENST00000403946.3_Missense_Mutation_p.I1078T|OTOF_ENST00000339598.3_Missense_Mutation_p.I331T|OTOF_ENST00000338581.6_Missense_Mutation_p.I331T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1078					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACGGTAGATCTGGTAGTA	0.647000													17	25					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166836821	166836821	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr6:166836821C>A	ENST00000510118.1	-	19	2081	c.1741G>T	c.(1741-1743)Ggc>Tgc	p.G581C	RPS6KA2_ENST00000265678.4_Missense_Mutation_p.G556C|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G467C|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G467C|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G564C			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	556	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G564S(1)|p.G556S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TTGGCAAAGCCGAAGTCGCAG	0.602000													20	31					1.2644e-06	1.28826e-06	1	1	0
SSTR2	0	broad.mit.edu	37	17	71165811	71165811	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr17:71165811T>C	ENST00000357585.2	+	2	722	c.353T>C	c.(352-354)gTc>gCc	p.V118A	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.V118A	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	118					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TGCCGGGTGGTCATGACTGTG	0.572000													16	102					0	0	1	0	0
IGHV1OR21-1	0	broad.mit.edu	37	21	10862778	10862778	+	RNA	SNP	A	A	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr21:10862778A>G	ENST00000559480.1	+	0	74																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CAGCTGGTGCAGTCTGGGGCT	0.567000													23	246					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12626176	12626176	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr17:12626176A>G	ENST00000425538.1	+	5	466	c.266A>G	c.(265-267)gAg>gGg	p.E89G	MYOCD_ENST00000395988.1_5'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.E89G	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	89					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCACTGCAGAGAGGTCCATT	0.448000													15	182					0	0	1	0	0
TEX11	0	broad.mit.edu	37	X	69871334	69871334	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chrX:69871334G>C	ENST00000395889.2	-	18	1649	c.1494C>G	c.(1492-1494)ttC>ttG	p.F498L	TEX11_ENST00000374333.2_Missense_Mutation_p.F483L|TEX11_ENST00000374320.2_Missense_Mutation_p.F173L|TEX11_ENST00000344304.3_Missense_Mutation_p.F498L	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	498							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTGCAATCTTGAATATATAAA	0.348000													9	20					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	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								36	70					0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32108485	32108485	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr2:32108485A>C	ENST00000295065.4	-	7	936	c.627T>G	c.(625-627)atT>atG	p.I209M	DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.I186M|MEMO1_ENST00000404530.1_Missense_Mutation_p.I209M|MEMO1_ENST00000379383.3_Missense_Mutation_p.I212M|MEMO1_ENST00000490459.1_Intron	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	209					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TGGATCTATAAATCTCCCCCT	0.313000													23	335					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878093	5878093	+	Silent	SNP	T	T	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr11:5878093T>A	ENST00000537935.1	-	1	871	c.840A>T	c.(838-840)atA>atT	p.I280I	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGGCTAATATAATATGTA	0.393000													19	223					0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73997474	73997474	+	Translation_Start_Site	SNP	G	G	A	rs2069528	by1000genomes	TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr17:73997474G>A	ENST00000425876.2	+	0	56				CDK3_ENST00000448471.1_Intron|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3						cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CAAATTGCCCGGTGCCTTCTG	0.622000													5	26					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54687025	54687025	+	Silent	SNP	G	G	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr12:54687025G>A	ENST00000540264.2	-	2	764	c.255C>T	c.(253-255)ctC>ctT	p.L85L	NFE2_ENST00000312156.4_Silent_p.L85L|NFE2_ENST00000435572.2_Silent_p.L85L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.L85L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	85	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TGGATGCTGGGAGCTCATAAG	0.577000													15	90					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64900459	64900459	+	Silent	SNP	A	A	C			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr11:64900459A>C	ENST00000526060.1	-	4	504	c.312T>G	c.(310-312)gtT>gtG	p.V104V	SYVN1_ENST00000307289.6_Silent_p.V104V|SYVN1_ENST00000377190.3_Silent_p.V104V|SYVN1_ENST00000294256.8_Silent_p.V104V			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	104					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGAAGAGTGCAACAAAGCGGG	0.557000													22	38					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10989595	10989595	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr16:10989595A>G	ENST00000324288.8	+	3	402	c.269A>G	c.(268-270)gAg>gGg	p.E90G	CIITA_ENST00000381835.5_Missense_Mutation_p.E90G|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	90	Asp/Glu-rich (acidic).				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGTGATGAAGAGACCAGGGAG	0.512000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								8	67					0	0	1	0	0
PCDHGB3	0	broad.mit.edu	37	5	140752018	140752018	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr5:140752018C>T	ENST00000576222.1	+	1	2188	c.2057C>T	c.(2056-2058)gCg>gTg	p.A686V	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCTCAGGCGGAGCTACAG	0.572000													28	114					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21771683	21771683	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr1:21771683G>A	ENST00000318249.5	+	2	454	c.104G>A	c.(103-105)gGc>gAc	p.G35D	NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000478653.2_3'UTR|NBPF3_ENST00000454000.2_Missense_Mutation_p.G35D|NBPF3_ENST00000342104.5_Missense_Mutation_p.G35D	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	35						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CATGGTGTGGGCCGACATCAA	0.542000													10	36					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20451157	20451157	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr16:20451157C>G	ENST00000331849.4	+	13	1719	c.1572C>G	c.(1570-1572)taC>taG	p.Y524*		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	524					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTCCAGCCTACTCCTCTCATG	0.458000													14	132					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7293877	7293877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr12:7293877G>A	ENST00000537408.1	+	8	1937	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.E455K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	455					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TCTGAACCTCGAGTTCCCCAC	0.567000											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	258					0	0	1	0	0
IGKV1-33	0	broad.mit.edu	37	2	89568183	89568183	+	RNA	SNP	A	A	G			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr2:89568183A>G	ENST00000473726.1	-	0	80																											CTTACCTGAGAGCCAGAGCAG	0.522000													11	47					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90322027	90322027	+	Silent	SNP	C	C	T	rs55790757	by1000genomes	TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr9:90322027C>T	ENST00000469640.2	+	27	4491	c.4116C>T	c.(4114-4116)aaC>aaT	p.N1372N	DAPK1_ENST00000491893.1_Silent_p.N1281N|DAPK1_ENST00000408954.3_Silent_p.N1347N|DAPK1_ENST00000358077.5_Silent_p.N1347N|DAPK1_ENST00000472284.1_Silent_p.N1347N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1347	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACACCAGTAACGGGGCTCCCA	0.632000									Chronic Lymphocytic Leukemia, Familial Clustering of				7	85					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21074807	21074807	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr10:21074807C>T	ENST00000377122.4	-	28	3310	c.2914G>A	c.(2914-2916)Gag>Aag	p.E972K	NEBL_ENST00000377159.4_Missense_Mutation_p.E194K|NEBL_ENST00000417816.2_Missense_Mutation_p.E228K	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	972	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAGGAGACCTCGTCTTCATCC	0.502000													16	79					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18822066	18822066	+	Silent	SNP	G	G	A			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chrX:18822066G>A	ENST00000361511.4	+	14	1616	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	PPEF1_ENST00000544635.1_Silent_p.T309T|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Silent_p.T321T|PPEF1_ENST00000349874.5_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	374	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TTCCAAATACGTGCCGAGGAG	0.423000													57	25					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_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)			17	12					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356152	40356154	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr4:40356152_40356154delATG	ENST00000310169.2	+	5	1194_1196	c.1055_1057delATG	c.(1054-1059)tat>t	p.YD352del		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	352					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TTGTTTGTCTATGATGTGGGTGA	0.552													8	276	---	---	---	---					
TRGC1	0	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													7	161	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-132)ccc>cGCCcc	p.43_44insR	DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698													4	4	---	---	---	---					
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr9:130953109_130953111delGCT	ENST00000538431.1	-	2	273_275	c.26_28delAGC	c.(25-30)ctc>c	p.QL9del	CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	9	Gln-rich.			Missing (in Ref. 7; AAF23231).		nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611													3	4	---	---	---	---					
PIEZO2	63895	broad.mit.edu	37	18	10671600	10671602	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chr18:10671600_10671602delTCT	ENST00000302079.6	-	51	7991_7993	c.7992_7994delAGA	c.(7990-7995)gat>ga	p.ED2664del	PIEZO2_ENST00000538948.1_In_Frame_Del_p.ED684del|PIEZO2_ENST00000503781.3_In_Frame_Del_p.ED2727del|PIEZO2_ENST00000580640.1_In_Frame_Del_p.ED2752del|PIEZO2_ENST00000285141.4_In_Frame_Del_p.ED519del			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2727						integral to membrane	ion channel activity										GGCATAGAGATCTTCTTCTAGCT	0.365													11	78	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						46	74	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938099	76938100	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-A7TI-01A-11D-A33T-08	TCGA-DU-A7TI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3959f0ac-f2a0-4761-9969-06eea3af0235	7babad52-46f6-4519-af6d-5c25e171c271	g.chrX:76938099_76938100delTT	ENST00000373344.5	-	9	2862_2863	c.2648_2649delAA	c.(2647-2649)cfs	p.Q883fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q845fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	883					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)	TCTCTCTCTCTTGTTTTCTTTC	0.401			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						91	270	---	---	---	---					
