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
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	67					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207567	81207567	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr4:81207567A>T	ENST00000312465.7	+	3	774	c.548A>T	c.(547-549)aAa>aTa	p.K183I	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	183					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGAACTGAAAAAACAGGGCGG	0.468000													28	65					0	0	1	0	0
CHMP1A	5119	broad.mit.edu	37	16	89720317	89720317	+	Silent	SNP	A	A	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr16:89720317A>G	ENST00000397901.3	-	2	278	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L	CHMP1A_ENST00000547614.1_Intron|CHMP1A_ENST00000535997.2_Intron|CHMP1A_ENST00000550102.1_Silent_p.L8L|CHMP1A_ENST00000253475.5_Intron	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	8					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CATACCTTCAACTGGAACAGG	0.502000													32	61					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37531389	37531389	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr20:37531389C>T	ENST00000299824.1	+	6	839	c.650C>T	c.(649-651)gCa>gTa	p.A217V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A217V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	217					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGCATGATCGCAGCGGGCCAG	0.577000													4	110					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82833311	82833311	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr5:82833311G>C	ENST00000265077.3	+	8	5054	c.4489G>C	c.(4489-4491)Gag>Cag	p.E1497Q	VCAN_ENST00000343200.5_Missense_Mutation_p.E510Q|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1497	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCAGGTGGTGAGCCTGATGT	0.438000													12	26					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736538	12736538	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:12736538G>A	ENST00000380682.1	+	16	4099	c.3593G>A	c.(3592-3594)cGg>cAg	p.R1198Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1198					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTGGCCAAGCGGATGTCATCA	0.582000													6	129					0	0	1	0	0
TMEM17	200728	broad.mit.edu	37	2	62729687	62729687	+	Splice_Site	SNP	T	T	C			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:62729687T>C	ENST00000335390.5	-	3	416		c.e3-2			NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17							integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GATTGAATACTAAAAGAAAAG	0.308000													5	18					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43505774	43505774	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr18:43505774T>C	ENST00000282041.5	-	14	2682	c.2648A>G	c.(2647-2649)aAc>aGc	p.N883S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	883					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CACTGTCAGGTTGTAATTCAA	0.403000													6	53					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153482	5153482	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr11:5153482G>T	ENST00000307388.1	-	1	390	c.391C>A	c.(391-393)Ccc>Acc	p.P131T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGTCTCAAGGGGATACAGATG	0.473000													12	14					1.08611e-07	1.12114e-07	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	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								13	19					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233273106	233273106	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:233273106C>T	ENST00000295453.3	+	6	830	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	260				H -> R (in Ref. 8; AAH14139).	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCTGGCGAAGCACCAGGTGAT	0.662000													4	11					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69934117	69934117	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr11:69934117A>G	ENST00000355303.5	+	2	673	c.368A>G	c.(367-369)gAc>gGc	p.D123G	ANO1_ENST00000398543.2_Missense_Mutation_p.D7G|ANO1_ENST00000530676.1_Missense_Mutation_p.D7G|ANO1_ENST00000316296.5_Missense_Mutation_p.D95G|ANO1_ENST00000538023.1_Missense_Mutation_p.D123G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	123					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CACGAGGATGACAAGCGCTTC	0.672000													4	16					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18778602	18778602	+	RNA	SNP	G	G	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr22:18778602G>A	ENST00000412448.1	-	0	803																											CTTGGCATCCGCGGCCACGGC	0.627000													3	12					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50314007	50314007	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr20:50314007T>G	ENST00000338821.5	-	5	715	c.451A>C	c.(451-453)Aag>Cag	p.K151Q	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	151					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTAGAACTCTTCACCTTCACT	0.443000													40	62					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:233245025C>T	ENST00000392027.2	+	6	1056	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	263			R -> H (in dbSNP:rs2853378).			anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.R263C(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667000													17	173					0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4355172	4355172	+	Silent	SNP	C	C	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:4355172C>G	ENST00000358065.4	+	2	814	c.747C>G	c.(745-747)gcC>gcG	p.A249A	SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Silent_p.A249A	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	236	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TTTTTGCAGCCAAAGATATTG	0.373000								Chromatin Structure					7	31					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20025343	20025343	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr13:20025343T>C	ENST00000400230.2	-	11	808	c.764A>G	c.(763-765)aAg>aGg	p.K255R	TPTE2_ENST00000255310.6_Missense_Mutation_p.K178R|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215R|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144R|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255R|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144R|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178R|TPTE2_ENST00000382978.1_Missense_Mutation_p.K215R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	255	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGATGTTTCTTATCTAGAAA	0.363000													8	25					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662601	99662601	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:99662601A>G	ENST00000373034.4	-	1	2670	c.995T>C	c.(994-996)gTc>gCc	p.V332A	PCDH19_ENST00000420881.2_Missense_Mutation_p.V332A|PCDH19_ENST00000255531.7_Missense_Mutation_p.V332A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	332	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCTGACGGTGACCTTGCAGTG	0.602000													20	48					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38013019	38013019	+	Silent	SNP	G	G	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr22:38013019G>A	ENST00000381756.5	+	3	355	c.219G>A	c.(217-219)gaG>gaA	p.E73E	GGA1_ENST00000325180.8_Intron|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000406772.1_Intron|GGA1_ENST00000414350.3_Silent_p.E73E|GGA1_ENST00000405147.3_Intron			Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	69	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GAAGGGGAGAGGCCACCATCC	0.627000													4	10					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58120353	58120353	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:58120353G>A	ENST00000357272.4	+	27	4690	c.4525G>A	c.(4525-4527)Gtc>Atc	p.V1509I	FLNB_ENST00000490882.1_Missense_Mutation_p.V1540I|FLNB_ENST00000493452.1_Missense_Mutation_p.V1340I|FLNB_ENST00000419752.2_Missense_Mutation_p.V1340I|FLNB_ENST00000295956.4_Missense_Mutation_p.V1509I|FLNB_ENST00000358537.3_Missense_Mutation_p.V1509I|FLNB_ENST00000348383.5_Missense_Mutation_p.V1509I|FLNB_ENST00000429972.2_Missense_Mutation_p.V1509I			O75369	FLNB_HUMAN	filamin B, beta	1509	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCCTTCAAGGTCAAGGTCCT	0.488000													15	119					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412447	63412447	+	Silent	SNP	A	A	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:63412447A>G	ENST00000330258.3	-	2	992	c.720T>C	c.(718-720)tcT>tcC	p.S240S	AMER1_ENST00000374869.3_Silent_p.S240S|AMER1_ENST00000403336.1_Silent_p.S240S	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTGGTGTTGGAGAAACTTTTG	0.537000													28	88					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	89037526	89037526	+	Silent	SNP	C	C	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:89037526C>T	ENST00000283646.4	+	8	826	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	257					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GGAATTTTATCTTGGACTGGA	0.433000													19	39					0	0	1	0	0
BSG	682	broad.mit.edu	37	19	581456	581456	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:581456G>A	ENST00000333511.3	+	6	1004	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	BSG_ENST00000545507.2_Missense_Mutation_p.A103T|BSG_ENST00000353555.4_Missense_Mutation_p.A196T|BSG_ENST00000346916.4_Missense_Mutation_p.A132T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	312	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGACCAGGCCATCATCAC	0.647000													8	12					0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30998231	30998231	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr16:30998231T>G	ENST00000297679.5	+	6	695	c.602T>G	c.(601-603)aTc>aGc	p.I201S	HSD3B7_ENST00000353250.5_Intron|HSD3B7_ENST00000262520.6_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	201					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCCACCAGATCATGAGGGAC	0.662000													13	45					0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079466	31079466	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr6:31079466C>T	ENST00000259870.3	-	2	673	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	224	Gly-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CAACCAGTCCCAGGGCCTCCA	0.587000													14	39					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45323986	45323986	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:45323986C>A	ENST00000270233.6	+	14	1810	c.1788C>A	c.(1786-1788)agC>agA	p.S596R		NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	596					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAGGGCTGAGCCACTCGGGGT	0.716000													2	1					1	1	1	1	0
OPN4	94233	broad.mit.edu	37	10	88418275	88418275	+	Silent	SNP	T	T	C			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr10:88418275T>C	ENST00000372071.2	+	5	719	c.492T>C	c.(490-492)ttT>ttC	p.F164F	OPN4_ENST00000241891.5_Silent_p.F153F	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	153					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GAGCTCTCTTTGGCATTTCCT	0.617000													16	42					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152502668	152502668	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:152502668delT	ENST00000427231.2	-	55	7714	c.7512delA	c.(7510-7512)aafs	p.K2504fs	NEB_ENST00000604864.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.K2504fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.K2504fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2504					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTAAGTTTGCTTTAGCCAGAA	0.328													2	4	---	---	---	---					
SETMAR	6419	broad.mit.edu	37	3	4355408	4355409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:4355408_4355409insT	ENST00000358065.4	+	2	1050_1051	c.983_984insT	c.(982-984)ctcfs	p.L328fs	SETMAR_ENST00000430981.1_Frame_Shift_Ins_p.L328fs|SETMAR_ENST00000425863.1_Frame_Shift_Ins_p.L189fs|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	315	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGCTCAGCCCCTTCTGTGTTCC	0.515								Chromatin Structure					8	26	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7573991	7573992	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr17:7573991_7573992insA	ENST00000269305.4	-	10	1224_1225	c.1035_1036insT	c.(1033-1038)aaaggcfs	p.KG345fs	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.KG345fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	345	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.L344fs*23(2)|p.E346*(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TCCAAGGCCTCATTCAGCTCTC	0.579		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)			16	9	---	---	---	---					
CTC-559E9.6	0	broad.mit.edu	37	19	19944580	19944580	+	RNA	DEL	T	T	-			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:19944580delT	ENST00000591884.1	+	0	520																											ATGTTTAATCttttttttttt	0.378													3	4	---	---	---	---					
CTC-513N18.6	0	broad.mit.edu	37	19	20663034	20663034	+	RNA	DEL	G	G	-			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:20663034delG	ENST00000598131.1	+	0	256																											agcttcttttgtccagctgct	0.537													3	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76918915	76918915	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:76918915delT	ENST00000373344.5	-	12	4290	c.4076delA	c.(4075-4077)agfs	p.K1359fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1321fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1359					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)	CTCTTTAGGCTTTGTCTTTTT	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	29	---	---	---	---