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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCBP2	1238	broad.mit.edu	37	3	42907140	42907140	+	Silent	SNP	A	G	G			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:42907140A>G	uc003cme.3	+	2	1324	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	CCBP2_uc003cmf.3_Silent_p.K382K|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.K382K	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	382					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGGGGAATAAATCAGCCTGAG	0.502000														24			14		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60895628	60895628	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:60895628C>T	uc002ycq.3	-	49	6813	c.6746G>A	c.(6745-6747)cGg>cAg	p.R2249Q	LAMA5_uc021wfw.1_Missense_Mutation_p.R2249Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2249	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.R2249W(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCGCCTAGCCGCCGTGCGTC	0.687000														6			4		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96181099	96181099	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:96181099G>A	uc001tei.3	-	1	652	c.203C>T	c.(202-204)aCg>aTg	p.T68M	NTN4_uc009ztf.3_Missense_Mutation_p.T68M|NTN4_uc009ztg.3_Missense_Mutation_p.T31M	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	68	Laminin N-terminal.			T -> K (in Ref. 1; AAG30822).	axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGTCAGATCCGTGTTCTCACT	0.537000														39			11		0	0	1	0	0
B4GALT1	2683	broad.mit.edu	37	9	33135343	33135343	+	Silent	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:33135343G>A	uc003zsg.2	-	1	681	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_001497	NP_001488	P15291	B4GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (B4GALT1), mRNA.	164					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|Golgi trans cisterna|basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|integral to membrane	N-acetyllactosamine synthase activity|alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CATAGCGGCCGCCCATCTTCA	0.557000														32			12		0	0	1	0	0
FAIM	55179	broad.mit.edu	37	3	138341217	138341217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:138341217G>A	uc003esr.3	+	2	559	c.299G>A	c.(298-300)tGg>tAg	p.W100*	FAIM_uc003eso.1_Nonsense_Mutation_p.W134*|FAIM_uc003esq.3_Nonsense_Mutation_p.W122*|FAIM_uc003esp.3_Nonsense_Mutation_p.W134*|FAIM_uc003ess.3_Nonsense_Mutation_p.W100*	NM_001033032	NP_060617	Q9NVQ4	FAIM1_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA.	100					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						ACCAATACTTGGGTATTACAC	0.333000														24			14		0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065256	49065256	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:49065256A>T	uc003cvt.3	-	4	510	c.418T>A	c.(418-420)Tgc>Agc	p.C140S		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	140	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	p.C140C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GGGATACCGCAGAAACCATGC	0.542000														43			15		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43574758	43574758	+	Silent	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:43574758G>A	uc001zrf.1	-	7	1070	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	355					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCTGCCACCCGTTGTATCCTG	0.562000														6			3		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535986	90535986	+	Silent	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:90535986G>A	uc010mqi.3	+	3	1193	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	FAM75C1_uc004apq.4_Silent_p.S371S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GCCCTGCGTCGCAGAATAAAG	0.517000														158			52		0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41753227	41753227	+	Silent	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:41753227C>T	uc011duf.1	+	5	779	c.531C>T	c.(529-531)tgC>tgT	p.C177C	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	137	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AACTCTACTGCGGCCGTCATC	0.622000														46			18		0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113770051	113770051	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr13:113770051C>T	uc001vsv.3	+	5	559	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	F7_uc010agp.1_Missense_Mutation_p.R163C|F7_uc001vsw.3_Missense_Mutation_p.R148C|F7_uc010tjt.2_Missense_Mutation_p.R101C	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	170	EGF-like 2.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGCACCAAGCGCTCCTGTCG	0.617000														27			8		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8794082	8794082	+	Silent	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:8794082G>A	uc002glt.3	-	6	697	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PIK3R5_uc010vuz.2_Silent_p.D210D|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_Intron	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	210					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCCGGGACGTCACAGTGGG	0.632000														13			3		0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165389159	165389159	+	Silent	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:165389159G>A	uc001gda.3	-	2	852	c.390C>T	c.(388-390)agC>agT	p.S130S	RXRG_uc021pea.1_Silent_p.S7S	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	130	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGATCCGGGGCTGGTGGATG	0.522000														37			12		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462410	5462410	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:5462410G>A	uc002gci.3	-	3	2161	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	NLRP1_uc002gcg.1_Missense_Mutation_p.R536W|NLRP1_uc002gch.4_Missense_Mutation_p.R536W|NLRP1_uc002gck.3_Missense_Mutation_p.R536W|NLRP1_uc002gcj.3_Missense_Mutation_p.R536W|NLRP1_uc002gcl.3_Missense_Mutation_p.R536W|NLRP1_uc010clh.3_Missense_Mutation_p.R536W	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	536	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTTCCTTCCGCTTCATCTGC	0.547000														70			28		0	0	1	0	0
RNF175	285533	broad.mit.edu	37	4	154636798	154636798	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:154636798C>T	uc003int.3	-	6	1020	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	RNF175_uc003inu.1_Missense_Mutation_p.R88Q	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	216						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTAGGCAACCGGCTGACACT	0.502000														18			10		0	0	1	0	0
LEP	3952	broad.mit.edu	37	7	127892092	127892092	+	Silent	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:127892092C>T	uc003vml.2	+	1	78	c.21C>T	c.(19-21)tgC>tgT	p.C7C	LEP_uc003vmm.2_Silent_p.C7C	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	7					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						GAACCCTGTGCGGATTCTTGT	0.488000														87			19		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228461596	228461596	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:228461596G>A	uc009xez.1	+	17	5307	c.5263G>A	c.(5263-5265)Gat>Aat	p.D1755N	OBSCN_uc001hsn.3_Missense_Mutation_p.D1755N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1755	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCTCAAGGATGGTGTGGA	0.647000														9			8		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				44			692		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522989	23522989	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr5:23522989T>A	uc003jgo.3	+	7	1059	c.877T>A	c.(877-879)Tgg>Agg	p.W293R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	293	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGATACTCCTGGCTGGTAAG	0.493000										HNSCC(3;0.000094)				48			19		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77064287	77064287	+	Silent	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:77064287C>T	uc002bby.3	-	8	1103	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	SCAPER_uc002bbx.3_Silent_p.V102V|SCAPER_uc002bbz.1_Silent_p.V213V|SCAPER_uc002bca.1_Silent_p.V213V|SCAPER_uc002bcb.1_Silent_p.V348V|SCAPER_uc002bcc.1_Silent_p.V348V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	347						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CCAATGTACTCACTGTGAACT	0.338000														28			7		0	0	1	0	0
IFITM1	8519	broad.mit.edu	37	11	314978	314978	+	Silent	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr11:314978C>T	uc001loy.4	+	1	423	c.243C>T	c.(241-243)acC>acT	p.T81T		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	81					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCTCCACCGCCAAGTGCC	0.572000														51			16		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156499981	156499981	+	Silent	SNP	G	C	C			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:156499981G>C	uc001fpf.3	-	33	4395	c.4320C>G	c.(4318-4320)gtC>gtG	p.V1440V		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1440					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTTCCGCAGGACGCGCCGCT	0.647000														11			6		0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45620175	45620175	+	Silent	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:45620175C>T	uc002rus.3	-	19	2683	c.2607G>A	c.(2605-2607)gaG>gaA	p.E869E	SRBD1_uc010yoc.2_Silent_p.E388E	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	869					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTGCAATTTTCTCCATTCCTT	0.403000														40			26		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45817649	45817649	+	Missense_Mutation	SNP	C	T	T	rs149619816	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr21:45817649C>T	uc010gpt.1	+	12	2052	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	TRPM2_uc002zet.1_Missense_Mutation_p.A651V|TRPM2_uc002zeu.1_Missense_Mutation_p.A651V|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.A651V|TRPM2_uc002zex.1_Missense_Mutation_p.A437V|TRPM2_uc002zey.1_Missense_Mutation_p.A164V	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	651						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCATCGCAGCGGCCTTGGCC	0.622000														17			7		0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121176335	121176335	+	Splice_Site	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:121176335G>A	uc001tza.4	+	7	914	c.796_splice	c.e7-1	p.Q266_splice	ACADS_uc010szl.1_Splice_Site_p.Q262_splice	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	266						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GGTCCCCACAGCAAACCCTGG	0.682000														34			10		0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21956473	21956473	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:21956473C>T	uc010kuk.3	-	1	184	c.64G>A	c.(64-66)Gat>Aat	p.D22N	CDCA7L_uc003sve.4_5'UTR|CDCA7L_uc010kul.3_Missense_Mutation_p.D22N|CDCA7L_uc003svf.4_Missense_Mutation_p.D22N	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	22					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCTTCATCATCACTGGGGGCG	0.463000														130			30		0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000														3			3		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13600828	13600828	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:13600828T>C	uc003gmz.1	-	9	7813	c.7696A>G	c.(7696-7698)Agt>Ggt	p.S2566G	BOD1L1_uc010idr.1_Missense_Mutation_p.S1903G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2566							DNA binding										TTGGTGGTACTGGTTTTCAAG	0.468000											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			8		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133712	91133712	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chrX:91133712G>A	uc004efk.2	+	1	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_uc004efl.2_Missense_Mutation_p.V825I|PCDH11X_uc010nmv.2_Missense_Mutation_p.V825I|PCDH11X_uc004efm.2_Missense_Mutation_p.V825I|PCDH11X_uc004efn.2_Missense_Mutation_p.V825I|PCDH11X_uc004efo.2_Missense_Mutation_p.V825I|PCDH11X_uc004efh.2_Missense_Mutation_p.V825I|PCDH11X_uc004efj.1_Missense_Mutation_p.V825I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	825					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463000														13			21		0	0	1	0	0
CRYBB2P1	1416	broad.mit.edu	37	22	25855471	25855471	+	RNA	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:25855471C>T	uc003abt.3	+	4		c.678C>T			CRYBB2P1_uc003abu.3_Non-coding_Transcript|CRYBB2P1_uc003abv.3_Non-coding_Transcript					Homo sapiens crystallin, beta B2 pseudogene 1 (CRYBB2P1), transcript variant 1, non-coding RNA.																		CTTTGGGGCCCGTCACCCTCA	0.627000														38			12		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373167	24373167	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:24373167C>T	uc002dmf.3	+	3	2133	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	311					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R311C(2)|p.R311H(1)|p.R311P(1)|p.R311R(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGCCAACAGGCGCACCACGCC	0.562000														41			13		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967963	88967963	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:88967963G>A	uc002fmm.2	-	1	542	c.253C>T	c.(253-255)Cct>Tct	p.P85S	CBFA2T3_uc002fml.2_Missense_Mutation_p.P24S|CBFA2T3_uc010cif.1_Missense_Mutation_p.P24S|CBFA2T3_uc002fmn.2_Missense_Mutation_p.P85S	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	85	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GATGCGGCAGGCGGTGGGGGC	0.701000			T	RUNX1	AML									35			16		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50325794	50325794	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:50325794C>T	uc002egd.1	+	2	791	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	ADCY7_uc002egb.1_Missense_Mutation_p.R175W|ADCY7_uc002egc.2_Missense_Mutation_p.R175W	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	175					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACCCAGTGTCCGGGTGGGGCT	0.652000														32			12		0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54579018	54579018	+	Silent	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:54579018C>T	uc002xxa.3	-	0	995	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	70	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGAAGGCGACCTTGGAGTTGG	0.637000														104			36		0	0	1	0	0
PDK1	5163	broad.mit.edu	37	2	173431601	173431601	+	Missense_Mutation	SNP	A	T	T	rs148646668		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:173431601A>T	uc002uhs.3	+	5	809	c.709A>T	c.(709-711)Agg>Tgg	p.R237W	PDK1_uc010zdz.1_Missense_Mutation_p.R82W|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Missense_Mutation_p.R257W|PDK1_uc010zeb.2_Missense_Mutation_p.R257W	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	237	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGAAAATGCTAGGCGTCTGTG	0.323000									Autosomal Dominant Polycystic Kidney Disease					16			3		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89624228	89624228	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:89624228T>A	uc001kfb.3	+	0	1034	c.2T>A	c.(1-3)aTg>aAg	p.M1K	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	1					T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.M1_?del fs(8)|p.M1fs*7(2)|p.M1T(2)|p.M1fs*24(2)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTCCCAGACATGACAGCCATC	0.507000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				19			11		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601169	138601169	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:138601169G>A	uc003qhu.3	+	13	2500	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	777	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACCAGCGGCGTGCTGATGGT	0.547000														26			17		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652226	88652226	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr14:88652226G>A	uc001xwm.3	-	6	1407	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	KCNK10_uc001xwn.3_Missense_Mutation_p.R429C|KCNK10_uc001xwo.3_Missense_Mutation_p.R424C	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	424					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P428P(1)|p.P428T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607000														39			19		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145636526	145636526	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:145636526G>A	uc003ijs.2	+	9	2302	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	541						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCACTAGTGGGTCCTGTAGA	0.428000														33			15		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3781375	3781375	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:3781375G>A	uc002cvv.3	-	29	5194	c.4990C>T	c.(4990-4992)Cgc>Tgc	p.R1664C	CREBBP_uc002cvw.3_Missense_Mutation_p.R1626C	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1664	Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity).		N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1664C(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGGCGTCGCGCCCATCCATG	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							17			6		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														19			4		0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	1	226252059	226252059	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:226252059C>T	uc001hpw.3	+	1	135	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	H3F3B_uc010pvl.2_Missense_Mutation_p.R3C|H3F3B_uc021pjv.1_Missense_Mutation_p.R3C	NM_005324	NP_005315	P84243	H33_HUMAN	Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA.	3					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	p.R3C(1)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACCATGGCTCGTACAAAGCA	0.498000											OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			12		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123812513	123812513	+	Silent	SNP	C	T	T	rs35352264	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:123812513C>T	uc004bkv.3	-	0	42	c.12G>A	c.(10-12)ttG>ttA	p.L4L	C5_uc010mvm.1_Silent_p.L4L|C5_uc010mvn.1_Silent_p.L4L	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	4					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AAAGTATTCCCAAAAGGCCCA	0.373000														44			19		0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38073447	38073447	+	Silent	SNP	C	T	T			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:38073447C>T	uc010cwj.3	-	1	254	c.123G>A	c.(121-123)ggG>ggA	p.G41G	GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Silent_p.G41G|GSDMB_uc002hth.3_Silent_p.G41G|GSDMB_uc010wem.2_Silent_p.G41G	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	41						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TTCTCTTCTCCCCCACCAGAT	0.483000														83			31		0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4284902	4284902	+	Splice_Site	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr19:4284902G>A	uc002lzw.2	+	4	2179	c.716_splice	c.e4+1	p.P239_splice		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	239										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACAGCCGTGAGTGGGGA	0.587000														43			23		0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48522793	48522793	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:48522793G>A	uc010gie.3	-	2	1276	c.926C>T	c.(925-927)cCg>cTg	p.P309L	SPATA2_uc002xuw.3_Missense_Mutation_p.P309L|SPATA2_uc010zyn.2_Missense_Mutation_p.P172L	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	309					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AAGCACATCCGGGCTGCCGTG	0.637000														65			30		0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	A	A	rs139754746		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:71571179G>A	uc003twb.4	-	3	736	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592000														33			10		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236744701	236744701	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:236744701T>A	uc001hyd.2	-	19	2728	c.2576A>T	c.(2575-2577)gAt>gTt	p.D859V	HEATR1_uc009xgh.2_Missense_Mutation_p.D102V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	859					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTGAAAAACATCTTCTAGATG	0.328000														39			9		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25835187	25835188	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:25835187_25835188delTA	uc003gru.4	-	3	1016_1017	c.864_865delTA	c.(862-867)tttactfs	p.F288fs		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	288						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AATGAAACAGTAAACCTATAAG	0.376													---	4	---	---	2	---					
RABEPK	10244	broad.mit.edu	37	9	127996226	127996226	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:127996226delC	uc004bpi.3	+	8	1255	c.1086delC	c.(1084-1086)atcfs	p.I362fs	RABEPK_uc004bpj.3_Frame_Shift_Del_p.I311fs|RABEPK_uc004bpk.3_Frame_Shift_Del_p.I362fs	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	362					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AAGGGGAAATCTATGACGATT	0.388													---	90	---	---	32	---					
PLCE1	51196	broad.mit.edu	37	10	96053387	96053387	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:96053387delT	uc001kjk.3	+	22	5792	c.5158delT	c.(5158-5160)tctfs	p.S1720fs	PLCE1_uc010qnx.2_Frame_Shift_Del_p.S1704fs|PLCE1_uc001kjm.3_Frame_Shift_Del_p.S1412fs|PLCE1_uc001kjp.3_Frame_Shift_Del_p.S78fs	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1720	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAACAAAACATCTGGAAAAAG	0.388													---	25	---	---	11	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	-	-	rs56192595		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	uc002bon.3	+	0	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	195	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													---	4	---	---	3	---					
LRRC37A11P	342666	broad.mit.edu	37	17	37200857	37200857	+	RNA	DEL	A	-	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:37200857delA	uc002hrd.1	+	3		c.2902delA								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		ACTGCCAAAGAAAAAAAGGCT	0.592													---	4	---	---	2	---					
P2RX6	9127	broad.mit.edu	37	22	21380124	21380124	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:21380124delT	uc010gsu.1	+	8	921	c.921delT	c.(919-921)ggtfs	p.G307fs	P2RX6_uc002ztz.2_Frame_Shift_Del_p.G281fs|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA.	307					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGCAACCGGGTGTGGAGGCCC	0.657													---	4	---	---	2	---					
