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	Genome_Change	Annotation_Transcript	Transcript_Strand	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	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
C10orf137	26098	broad.mit.edu	37	10	127426555	127426555	+	Silent	SNP	A	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127426555A>T	uc001liq.1	+	c.1827A>T	c.(1825-1827)CTA>CTT	p.L609L	C10orf137_uc001lin.2_Silent_p.L575L|C10orf137_uc001lio.1_Silent_p.L575L|C10orf137_uc001lip.1_Silent_p.L313L|C10orf137_uc001lir.2_Silent_p.L103L|C10orf137_uc001lis.1_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)	8		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)												0.536232	120.280814	120.360095	37	32	KEEP	---	---	---	---	capture		Silent	SNP	127426555	127426555	1631	10	A	T	T	T	184	15	C10orf137	3	3
SPAG6	9576	broad.mit.edu	37	10	22680767	22680767	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22680767G>T	uc001iri.2	+	c.1115G>T	c.(1114-1116)CGG>CTG	p.R372L	SPAG6_uc001irj.2_Missense_Mutation_p.R372L|SPAG6_uc010qct.1_Missense_Mutation_p.R342L|SPAG6_uc009xkh.2_Missense_Mutation_p.R350L	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	372	ARM 8.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1														0.454545	47.722183	47.781355	15	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22680767	22680767	15485	10	G	T	T	T	507	39	SPAG6	1	1
ARHGAP12	94134	broad.mit.edu	37	10	32098161	32098161	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:32098161G>A	uc001ivz.1	-	c.2125C>T	c.(2125-2127)CAT>TAT	p.H709Y	ARHGAP12_uc001ivy.1_Missense_Mutation_p.H655Y|ARHGAP12_uc009xls.2_Missense_Mutation_p.H660Y|ARHGAP12_uc001iwb.1_Missense_Mutation_p.H702Y|ARHGAP12_uc001iwc.1_Missense_Mutation_p.H677Y|ARHGAP12_uc009xlq.1_Missense_Mutation_p.H630Y|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_5'UTR	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	709	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)												0.230769	28.905324	32.337091	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32098161	32098161	876	10	G	A	A	A	585	45	ARHGAP12	2	2
OR13A1	79290	broad.mit.edu	37	10	45799763	45799763	+	Silent	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:45799763C>A	uc001jcc.1	-	c.108G>T	c.(106-108)TCG>TCT	p.S36S	OR13A1_uc001jcd.1_Silent_p.S32S	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	36	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.605263	78.736991	79.107653	23	15	KEEP	---	---	---	---	capture		Silent	SNP	45799763	45799763	11339	10	C	A	A	A	288	23	OR13A1	1	1
LDB3	11155	broad.mit.edu	37	10	88476273	88476273	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88476273C>A	uc010qmm.1	+	c.1436C>A	c.(1435-1437)TCG>TAG	p.S479*	LDB3_uc010qml.1_Nonsense_Mutation_p.S411*|LDB3_uc001kdu.2_Nonsense_Mutation_p.S364*|LDB3_uc001kdv.2_Nonsense_Mutation_p.S474*|LDB3_uc009xsz.2_Nonsense_Mutation_p.S103*|LDB3_uc009xta.1_5'Flank	NM_001080114	NP_009009	O75112	LDB3_HUMAN	LIM domain binding 3 isoform 2	474						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			ovary(1)	1														0.647887	140.945336	142.316502	46	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	88476273	88476273	9021	10	C	A	A	A	403	31	LDB3	5	1
TLL2	7093	broad.mit.edu	37	10	98129870	98129870	+	Silent	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98129870G>A	uc001kml.1	-	c.2865C>T	c.(2863-2865)GAC>GAT	p.D955D		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	955	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)										0.567568	63.449632	63.59359	21	16	KEEP	---	---	---	---	capture		Silent	SNP	98129870	98129870	16476	10	G	A	A	A	516	40	TLL2	1	1
MMP3	4314	broad.mit.edu	37	11	102709964	102709964	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102709964G>A	uc001phj.1	-	c.946C>T	c.(946-948)CGC>TGC	p.R316C		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	316	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R316C(1)		lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)									0.466667	83.007636	83.0639	28	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102709964	102709964	10057	11	G	A	A	A	494	38	MMP3	1	1
POU2AF1	5450	broad.mit.edu	37	11	111225164	111225164	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111225164G>T	uc001plg.3	-	c.593C>A	c.(592-594)CCA>CAA	p.P198Q		NM_006235	NP_006226	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	198					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			kidney(1)	1		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)						95				0.27451	37.728141	40.063803	14	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111225164	111225164	12700	11	G	T	T	T	611	47	POU2AF1	2	2
KRTAP5-6	440023	broad.mit.edu	37	11	1718520	1718520	+	Silent	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1718520G>T	uc001lua.2	+	c.45G>T	c.(43-45)GGG>GGT	p.G15G		NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	15						keratin filament					0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.215686	71.439945	82.82368	33	120	KEEP	---	---	---	---	capture		Silent	SNP	1718520	1718520	8887	11	G	T	T	T	548	43	KRTAP5-6	2	2
CCDC73	493860	broad.mit.edu	37	11	32674751	32674751	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32674751T>C	uc001mtv.2	-	c.857A>G	c.(856-858)CAT>CGT	p.H286R	CCDC73_uc001mtw.1_Intron	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	286	Potential.									ovary(1)	1	Breast(20;0.112)													0.408451	81.460401	81.979588	29	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32674751	32674751	2969	11	T	C	C	C	663	51	CCDC73	4	4
MYBPC3	4607	broad.mit.edu	37	11	47374196	47374196	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47374196C>T	uc001nfa.3	-	c.3G>A	c.(1-3)ATG>ATA	p.M1I	SLC39A13_uc001nfd.2_5'Flank	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)										0.37037	55.690655	56.485992	20	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47374196	47374196	10408	11	C	T	T	T	325	25	MYBPC3	2	2
OR4C13	283092	broad.mit.edu	37	11	49974040	49974040	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49974040G>T	uc010rhz.1	+	c.66G>T	c.(64-66)CAG>CAT	p.Q22H		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.165414	42.31201	56.403893	22	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49974040	49974040	11453	11	G	T	T	T	425	33	OR4C13	2	2
OR4C11	219429	broad.mit.edu	37	11	55371129	55371129	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55371129G>A	uc010rii.1	-	c.721C>T	c.(721-723)CAC>TAC	p.H241Y		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.486486	111.39297	111.404847	36	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55371129	55371129	11451	11	G	A	A	A	585	45	OR4C11	2	2
OR4S2	219431	broad.mit.edu	37	11	55418437	55418437	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55418437G>T	uc001nhs.1	+	c.58G>T	c.(58-60)GAG>TAG	p.E20*		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)												0.367089	83.650799	84.87899	29	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55418437	55418437	11493	11	G	T	T	T	429	33	OR4S2	5	2
OR8J1	219477	broad.mit.edu	37	11	56127726	56127726	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56127726G>A	uc010rjh.1	+	c.4G>A	c.(4-6)GCT>ACT	p.A2T		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.490566	81.745412	81.749542	26	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56127726	56127726	11652	11	G	A	A	A	546	42	OR8J1	2	2
MAP3K11	4296	broad.mit.edu	37	11	65375749	65375749	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65375749C>T	uc001oew.2	-	c.910G>A	c.(910-912)GAC>AAC	p.D304N	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.D47N|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	304	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|protein autophosphorylation|protein oligomerization	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|protein homodimerization activity			central_nervous_system(1)	1										130				0.184211	14.403643	17.958194	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65375749	65375749	9628	11	C	T	T	T	377	29	MAP3K11	2	2
XRRA1	143570	broad.mit.edu	37	11	74617397	74617397	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74617397C>A	uc009yub.2	-	c.866G>T	c.(865-867)AGT>ATT	p.S289I	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.2_5'UTR|XRRA1_uc001ovo.2_5'UTR|XRRA1_uc001ovq.3_Missense_Mutation_p.S289I|XRRA1_uc001ovp.3_Missense_Mutation_p.S56I|XRRA1_uc001ovr.2_5'UTR|XRRA1_uc001ovt.2_Missense_Mutation_p.S56I	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	289					response to X-ray	cytoplasm|nucleus					0														0.196429	20.452979	25.345685	11	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74617397	74617397	18044	11	C	A	A	A	260	20	XRRA1	2	2
FAT3	120114	broad.mit.edu	37	11	92086077	92086077	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92086077C>A	uc001pdj.3	+	c.799C>A	c.(799-801)CAT>AAT	p.H267N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	267	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.387387	130.008975	131.238304	43	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92086077	92086077	5927	11	C	A	A	A	273	21	FAT3	2	2
UTP20	27340	broad.mit.edu	37	12	101757487	101757487	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101757487A>G	uc001tia.1	+	c.5924A>G	c.(5923-5925)GAT>GGT	p.D1975G		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1975					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4														0.487805	67.797361	67.802681	20	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101757487	101757487	17664	12	A	G	G	G	156	12	UTP20	4	4
CCDC91	55297	broad.mit.edu	37	12	28702079	28702079	+	Silent	SNP	A	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:28702079A>T	uc001riq.2	+	c.1299A>T	c.(1297-1299)ATA>ATT	p.I433I	CCDC91_uc001rio.2_Silent_p.I403I|CCDC91_uc009zjk.2_Non-coding_Transcript|CCDC91_uc001rir.2_Silent_p.I271I|CCDC91_uc009zjl.2_Silent_p.I235I	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	GGA binding partner	433					protein transport	Golgi apparatus|membrane				central_nervous_system(1)	1	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)													0.635294	178.464077	179.830696	54	31	KEEP	---	---	---	---	capture		Silent	SNP	28702079	28702079	2995	12	A	T	T	T	189	15	CCDC91	3	3
NDUFA9	4704	broad.mit.edu	37	12	4768321	4768321	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4768321C>G	uc001qnc.2	+	c.530C>G	c.(529-531)TCT>TGT	p.S177C	NDUFA9_uc009zei.1_Missense_Mutation_p.S177C|NDUFA9_uc010ses.1_5'UTR	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	177					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	Colon(75;996 1244 23946 25294 29232)								0.204545	22.349592	25.913893	9	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4768321	4768321	10671	12	C	G	G	G	416	32	NDUFA9	3	3
E2F7	144455	broad.mit.edu	37	12	77438543	77438543	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:77438543T>A	uc001sym.3	-	c.862A>T	c.(862-864)AGA>TGA	p.R288*		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	288	Potential.				cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|identical protein binding			ovary(1)|kidney(1)	2														0.637931	117.292653	118.272766	37	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77438543	77438543	5058	12	T	A	A	A	700	54	E2F7	5	3
FLT3	2322	broad.mit.edu	37	13	28602427	28602427	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28602427T>A	uc001urw.2	-	c.1943_splice	c.e16-1	p.E648_splice	FLT3_uc010aao.2_Splice_Site_SNP|FLT3_uc010tdn.1_Splice_Site_SNP_p.E648_splice	NM_004119	NP_004110			fms-related tyrosine kinase 3 precursor						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			haematopoietic_and_lymphoid_tissue(8072)|ovary(2)|lung(1)|central_nervous_system(1)	8076	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)					630				0.315789	19.043645	19.616823	6	13	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	28602427	28602427	6184	13	T	A	A	A	715	55	FLT3	5	3
MLNR	2862	broad.mit.edu	37	13	49794774	49794774	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:49794774T>C	uc010tgj.1	+	c.301T>C	c.(301-303)TCG>CCG	p.S101P		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	101	Extracellular (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)										0.777778	23.428719	24.067031	7	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49794774	49794774	10022	13	T	C	C	C	702	54	MLNR	4	4
LMO7	4008	broad.mit.edu	37	13	76397902	76397902	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:76397902C>T	uc001vjv.2	+	c.2143C>T	c.(2143-2145)CAG>TAG	p.Q715*	LMO7_uc010thv.1_Nonsense_Mutation_p.Q666*|LMO7_uc001vjt.1_Nonsense_Mutation_p.Q614*|LMO7_uc010thw.1_Nonsense_Mutation_p.Q565*|LMO7_uc001vjw.1_Nonsense_Mutation_p.Q621*	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	1000						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)										0.25	20.98407	22.802396	8	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76397902	76397902	9184	13	C	T	T	T	273	21	LMO7	5	2
TECPR2	9895	broad.mit.edu	37	14	102906821	102906821	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102906821G>T	uc001ylw.1	+	c.2627G>T	c.(2626-2628)TGT>TTT	p.C876F	TECPR2_uc010awl.2_Missense_Mutation_p.C876F|TECPR2_uc010txx.1_Missense_Mutation_p.C39F	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	876							protein binding			lung(1)|central_nervous_system(1)	2														0.215909	49.193524	55.734767	19	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102906821	102906821	16271	14	G	T	T	T	624	48	TECPR2	2	2
AHNAK2	113146	broad.mit.edu	37	14	105408258	105408258	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105408258G>T	uc010axc.1	-	c.13530C>A	c.(13528-13530)GAC>GAA	p.D4510E	AHNAK2_uc001ypx.2_Missense_Mutation_p.D4410E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4510						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.294118	90.273683	94.793257	35	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105408258	105408258	418	14	G	T	T	T	568	44	AHNAK2	2	2
SOS2	6655	broad.mit.edu	37	14	50667801	50667801	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50667801T>C	uc001wxs.3	-	c.215A>G	c.(214-216)GAG>GGG	p.E72G	SOS2_uc010tql.1_Missense_Mutation_p.E72G	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	72					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)													0.275862	48.038019	50.623645	16	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50667801	50667801	15437	14	T	C	C	C	702	54	SOS2	4	4
SLC10A1	6554	broad.mit.edu	37	14	70245197	70245197	+	Missense_Mutation	SNP	A	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70245197A>C	uc001xlr.2	-	c.796T>G	c.(796-798)TGT>GGT	p.C266G		NM_003049	NP_003040	Q14973	NTCP_HUMAN	solute carrier family 10, member 1	266					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(1)	1				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)										0.232143	28.040202	31.726681	13	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70245197	70245197	14868	14	A	C	C	C	91	7	SLC10A1	4	4
RPS6KA5	9252	broad.mit.edu	37	14	91356980	91356980	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:91356980T>C	uc001xys.2	-	c.1687A>G	c.(1687-1689)ATA>GTA	p.I563V	RPS6KA5_uc010twi.1_Missense_Mutation_p.I484V	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	563	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)						302				0.465116	70.997336	71.042818	20	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91356980	91356980	14134	14	T	C	C	C	676	52	RPS6KA5	4	4
CTDSPL2	51496	broad.mit.edu	37	15	44789291	44789291	+	Silent	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:44789291G>T	uc001ztr.2	+	c.837G>T	c.(835-837)CCG>CCT	p.P279P	CTDSPL2_uc001zts.2_Silent_p.P279P|CTDSPL2_uc001ztt.2_Silent_p.P279P|CTDSPL2_uc010bdv.2_Silent_p.P207P	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	279							phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)										0.512195	74.576989	74.582309	21	20	KEEP	---	---	---	---	capture		Silent	SNP	44789291	44789291	4165	15	G	T	T	T	509	40	CTDSPL2	1	1
IGF1R	3480	broad.mit.edu	37	15	99465655	99465655	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:99465655C>A	uc002bul.2	+	c.2480C>A	c.(2479-2481)CCC>CAC	p.P827H	IGF1R_uc010urq.1_Missense_Mutation_p.P827H|IGF1R_uc010bon.2_Missense_Mutation_p.P827H|IGF1R_uc010boo.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	827	Extracellular (Potential).				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	integral to plasma membrane|microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)					471				0.541667	81.151522	81.223971	26	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99465655	99465655	7872	15	C	A	A	A	286	22	IGF1R	2	2
CACNA1H	8912	broad.mit.edu	37	16	1261168	1261168	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1261168G>T	uc002cks.2	+	c.4224G>T	c.(4222-4224)AGG>AGT	p.R1408S	CACNA1H_uc002ckt.2_Missense_Mutation_p.R1408S|CACNA1H_uc002cku.2_Missense_Mutation_p.R114S|CACNA1H_uc010brj.2_Missense_Mutation_p.R114S|CACNA1H_uc002ckv.2_Missense_Mutation_p.R114S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1408	III.|Helical; Name=S4 of repeat III; (Potential).				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.296296	38.274622	40.28167	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1261168	1261168	2661	16	G	T	T	T	555	43	CACNA1H	2	2
EEF2K	29904	broad.mit.edu	37	16	22237269	22237269	+	Silent	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22237269G>T	uc002dki.2	+	c.219G>T	c.(217-219)GGG>GGT	p.G73G	EEF2K_uc002dkh.2_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	73					insulin receptor signaling pathway|protein phosphorylation|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		NSCLC(195;1411 2157 20319 27471 51856)				274				0.357143	57.788944	58.793514	20	36	KEEP	---	---	---	---	capture		Silent	SNP	22237269	22237269	5117	16	G	T	T	T	561	44	EEF2K	2	2
CASKIN1	57524	broad.mit.edu	37	16	2229900	2229900	+	Silent	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2229900G>T	uc010bsg.1	-	c.3469C>A	c.(3469-3471)CGG>AGG	p.R1157R		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1157	Pro-rich.				signal transduction	cytoplasm					0														0.307692	10.095102	10.523739	4	9	KEEP	---	---	---	---	capture		Silent	SNP	2229900	2229900	2785	16	G	T	T	T	493	38	CASKIN1	1	1
ZKSCAN2	342357	broad.mit.edu	37	16	25258612	25258612	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:25258612C>A	uc002dod.3	-	c.905G>T	c.(904-906)CGA>CTA	p.R302L	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R98L|ZKSCAN2_uc002doe.2_Missense_Mutation_p.R302L	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	302					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)										0.461538	147.990395	148.123823	48	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25258612	25258612	18278	16	C	A	A	A	403	31	ZKSCAN2	1	1
OR1F1	4992	broad.mit.edu	37	16	3255025	3255025	+	Missense_Mutation	SNP	T	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3255025T>G	uc010uwu.1	+	c.779T>G	c.(778-780)TTT>TGT	p.F260C		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.369318	202.332866	204.972635	65	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3255025	3255025	11362	16	T	G	G	G	832	64	OR1F1	4	4
SHCBP1	79801	broad.mit.edu	37	16	46633812	46633812	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46633812A>T	uc002eec.3	-	c.1276T>A	c.(1276-1278)TGC>AGC	p.C426S		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	426										ovary(1)|breast(1)	2		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)												0.318182	41.638686	42.929296	14	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46633812	46633812	14766	16	A	T	T	T	91	7	SHCBP1	3	3
MYLK3	91807	broad.mit.edu	37	16	46781866	46781866	+	Silent	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46781866C>A	uc002eei.3	-	c.240G>T	c.(238-240)GGG>GGT	p.G80G	MYLK3_uc010vge.1_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	80					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|protein phosphorylation|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)								207				0.233333	16.609405	18.562543	7	23	KEEP	---	---	---	---	capture		Silent	SNP	46781866	46781866	10453	16	C	A	A	A	275	22	MYLK3	2	2
SALL1	6299	broad.mit.edu	37	16	51173150	51173150	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51173150G>A	uc010vgs.1	-	c.2983C>T	c.(2983-2985)CGG>TGG	p.R995W	SALL1_uc010vgr.1_Missense_Mutation_p.R898W|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	995					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.160714	16.844808	22.981289	9	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51173150	51173150	14290	16	G	A	A	A	506	39	SALL1	1	1
SALL1	6299	broad.mit.edu	37	16	51174200	51174200	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:51174200G>A	uc010vgs.1	-	c.1933C>T	c.(1933-1935)CCA>TCA	p.P645S	SALL1_uc010vgr.1_Missense_Mutation_p.P548S|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	645					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(3)	3		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GBM(103;1352 1446 1855 4775 8890)								0.185185	18.033601	23.044749	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51174200	51174200	14290	16	G	A	A	A	559	43	SALL1	2	2
CHD9	80205	broad.mit.edu	37	16	53272307	53272307	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:53272307A>G	uc002ehb.2	+	c.2686A>G	c.(2686-2688)ATT>GTT	p.I896V	CHD9_uc002egy.2_Missense_Mutation_p.I896V|CHD9_uc002eha.1_Missense_Mutation_p.I896V|CHD9_uc002ehc.2_Missense_Mutation_p.I896V|CHD9_uc002ehf.2_Missense_Mutation_p.I10V|CHD9_uc002ehd.2_Missense_Mutation_p.I422V|CHD9_uc002ehe.1_Missense_Mutation_p.I10V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	896	Helicase ATP-binding.				cellular lipid metabolic process|chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|cytoplasm|nucleoplasm	ATP binding|chromatin binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)								1157				0.226667	47.233184	52.380188	17	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53272307	53272307	3466	16	A	G	G	G	52	4	CHD9	4	4
RLTPR	146206	broad.mit.edu	37	16	67686373	67686373	+	Splice_Site_SNP	SNP	A	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67686373A>G	uc002etn.2	+	c.2818_splice	c.e28-2	p.D940_splice	RLTPR_uc010cel.1_Splice_Site_SNP_p.D933_splice|RLTPR_uc010vjr.1_Splice_Site_SNP_p.D904_splice|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860			RGD motif, leucine rich repeats, tropomodulin											breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)										0.666667	24.497218	24.790777	8	4	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	67686373	67686373	13871	16	A	G	G	G	91	7	RLTPR	5	4
CYB5B	80777	broad.mit.edu	37	16	69458735	69458735	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:69458735A>G	uc002exg.1	+	c.149A>G	c.(148-150)TAC>TGC	p.Y50C	CYB5B_uc002exf.2_Missense_Mutation_p.Y50C|CYB5B_uc010cfl.1_Missense_Mutation_p.Y50C	NM_030579	NP_085056	O43169	CYB5B_HUMAN	cytochrome b5 outer mitochondrial membrane	46	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding				0		Ovarian(137;0.101)												0.444444	39.500658	39.572481	12	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69458735	69458735	4288	16	A	G	G	G	182	14	CYB5B	4	4
CDH13	1012	broad.mit.edu	37	16	83520147	83520147	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:83520147C>T	uc002fgx.2	+	c.847C>T	c.(847-849)CGG>TGG	p.R283W	CDH13_uc010vns.1_Missense_Mutation_p.R330W|CDH13_uc010vnt.1_Missense_Mutation_p.R29W|CDH13_uc010vnu.1_Missense_Mutation_p.R244W	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	283	Cadherin 2.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)										0.203125	25.463721	30.686934	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83520147	83520147	3228	16	C	T	T	T	347	27	CDH13	1	1
GRIN2A	2903	broad.mit.edu	37	16	9916122	9916122	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:9916122C>A	uc002czo.3	-	c.2167G>T	c.(2167-2169)GGG>TGG	p.G723W	GRIN2A_uc010uym.1_Missense_Mutation_p.G723W|GRIN2A_uc010uyn.1_Missense_Mutation_p.G566W|GRIN2A_uc002czr.3_Missense_Mutation_p.G723W	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	723	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.445455	141.357947	141.641781	49	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9916122	9916122	7058	16	C	A	A	A	286	22	GRIN2A	2	2
RAB11FIP4	84440	broad.mit.edu	37	17	29855757	29855757	+	Silent	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:29855757C>A	uc002hgn.1	+	c.1614C>A	c.(1612-1614)CGC>CGA	p.R538R	RAB11FIP4_uc002hgo.2_Silent_p.R436R	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	538	Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|cytoplasmic membrane-bounded vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)												0.533333	24.698773	24.713136	8	7	KEEP	---	---	---	---	capture		Silent	SNP	29855757	29855757	13355	17	C	A	A	A	340	27	RAB11FIP4	1	1
STAT5A	6776	broad.mit.edu	37	17	40453374	40453374	+	Silent	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40453374C>T	uc002hzj.1	+	c.1071C>T	c.(1069-1071)GGC>GGT	p.G357G	STAT5A_uc010cya.1_Silent_p.G357G|STAT5A_uc010cyb.1_Silent_p.G357G|STAT5A_uc010cyc.1_Silent_p.G327G	NM_003152	NP_003143	P42229	STA5A_HUMAN	signal transducer and activator of transcription	357					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)						465				0.589286	103.044813	103.461169	33	23	KEEP	---	---	---	---	capture		Silent	SNP	40453374	40453374	15788	17	C	T	T	T	340	27	STAT5A	1	1
ABCA9	10350	broad.mit.edu	37	17	67003946	67003946	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67003946C>T	uc002jhu.2	-	c.3389G>A	c.(3388-3390)CGC>CAC	p.R1130H	ABCA9_uc010dez.2_Intron	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1130					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|central_nervous_system(1)	5	Breast(10;1.47e-12)													0.25	27.575558	30.306266	12	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67003946	67003946	40	17	C	T	T	T	351	27	ABCA9	1	1
KIAA0195	9772	broad.mit.edu	37	17	73484840	73484840	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73484840G>A	uc010wsa.1	+	c.643G>A	c.(643-645)GAT>AAT	p.D215N	KIAA0195_uc002jnz.3_Missense_Mutation_p.D205N|KIAA0195_uc010wsb.1_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	205					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)											0.202128	42.02856	49.740099	19	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73484840	73484840	8467	17	G	A	A	A	533	41	KIAA0195	2	2
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	A	A	rs67185453		TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577535C>A	uc002gim.2	-	c.746G>T	c.(745-747)AGG>ATG	p.R249M	TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.2_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	249	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|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 gene-specific transcription from RNA polymerase II promoter|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	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|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|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R249M(25)|p.R249T(15)|p.R249K(14)|p.0?(6)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		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)		Pancreas(47;798 1329 9957 10801)		111		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.55	35.724829	35.768216	11	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7577535	7577535	16923	17	C	A	A	A	312	24	TP53	2	2
TP53	7157	broad.mit.edu	37	17	7578264	7578264	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578264G>C	uc002gim.2	-	c.585C>G	c.(583-585)ATC>ATG	p.I195M	TP53_uc002gig.1_Missense_Mutation_p.I195M|TP53_uc002gih.2_Missense_Mutation_p.I195M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63M|TP53_uc010cng.1_Missense_Mutation_p.I63M|TP53_uc002gii.1_Missense_Mutation_p.I63M|TP53_uc010cnh.1_Missense_Mutation_p.I195M|TP53_uc010cni.1_Missense_Mutation_p.I195M|TP53_uc002gij.2_Missense_Mutation_p.I195M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102M|TP53_uc002gio.2_Missense_Mutation_p.I63M|TP53_uc010vug.1_Missense_Mutation_p.I156M	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	195	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|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 gene-specific transcription from RNA polymerase II promoter|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	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|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|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.R196*(7)|p.0?(6)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(2)|p.I195fs*50(1)|p.H193_I195>AP(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.I195fs*12(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		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)		Pancreas(47;798 1329 9957 10801)		111	p.H193fs(59M-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.538462	48.75042	48.783723	14	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578264	7578264	16923	17	G	C	C	C	525	41	TP53	3	3
DNAH2	146754	broad.mit.edu	37	17	7708677	7708677	+	Silent	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7708677C>T	uc002giu.1	+	c.9408C>T	c.(9406-9408)AAC>AAT	p.N3136N	DNAH2_uc010cnm.1_Silent_p.N74N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3136	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.227273	22.725201	25.732992	10	34	KEEP	---	---	---	---	capture		Silent	SNP	7708677	7708677	4785	17	C	T	T	T	246	19	DNAH2	1	1
SETBP1	26040	broad.mit.edu	37	18	42643114	42643114	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42643114G>T	uc010dni.2	+	c.4242G>T	c.(4240-4242)ATG>ATT	p.M1414I		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1414						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.459459	55.574524	55.626951	17	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42643114	42643114	14617	18	G	T	T	T	624	48	SETBP1	2	2
KIAA1632	57724	broad.mit.edu	37	18	43462448	43462448	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43462448T>A	uc002lbm.2	-	c.5309A>T	c.(5308-5310)GAT>GTT	p.D1770V	KIAA1632_uc010xcq.1_Missense_Mutation_p.D324V|KIAA1632_uc010xcr.1_Non-coding_Transcript|KIAA1632_uc010xcs.1_Intron|KIAA1632_uc002lbn.2_Missense_Mutation_p.D645V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1770					autophagy						0														0.214286	12.12357	14.249258	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43462448	43462448	8558	18	T	A	A	A	650	50	KIAA1632	3	3
SERPINB5	5268	broad.mit.edu	37	18	61160254	61160254	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61160254G>A	uc002liz.3	+	c.493G>A	c.(493-495)GCC>ACC	p.A165T	SERPINB5_uc002liy.2_Missense_Mutation_p.A165T	NM_002639	NP_002630	P36952	SPB5_HUMAN	serine (or cysteine) proteinase inhibitor, clade	165					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1														0.376471	82.915437	84.038139	32	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61160254	61160254	14592	18	G	A	A	A	598	46	SERPINB5	2	2
KCNG2	26251	broad.mit.edu	37	18	77659344	77659344	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77659344C>T	uc010xfl.1	+	c.929C>T	c.(928-930)TCG>TTG	p.S310L		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G,	310	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)										0.5	6.850118	6.850118	2	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77659344	77659344	8333	18	C	T	T	T	403	31	KCNG2	1	1
TYK2	7297	broad.mit.edu	37	19	10469871	10469871	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10469871C>A	uc002moc.3	-	c.2155G>T	c.(2155-2157)GCC>TCC	p.A719S	TYK2_uc010dxe.2_Missense_Mutation_p.A534S|TYK2_uc002mod.2_Missense_Mutation_p.A719S	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	719	Protein kinase 1.				intracellular protein kinase cascade|protein phosphorylation|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(2)|lung(2)|breast(1)	5			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)							414				0.636364	20.424884	20.604227	7	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10469871	10469871	17367	19	C	A	A	A	338	26	TYK2	2	2
PLVAP	83483	broad.mit.edu	37	19	17487843	17487843	+	Silent	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17487843G>A	uc002ngk.1	-	c.255C>T	c.(253-255)ACC>ACT	p.T85T		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	85	Extracellular (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0														0.633333	61.228575	61.69687	19	11	KEEP	---	---	---	---	capture		Silent	SNP	17487843	17487843	12542	19	G	A	A	A	600	47	PLVAP	2	2
AP3D1	8943	broad.mit.edu	37	19	2138643	2138643	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2138643G>A	uc002lva.2	-	c.167C>T	c.(166-168)GCG>GTG	p.A56V	AP3D1_uc002luy.2_Missense_Mutation_p.A56V|AP3D1_uc002luz.2_Missense_Mutation_p.A56V	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	56	HEAT 1.				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		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)										0.328571	61.999703	63.824415	23	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2138643	2138643	756	19	G	A	A	A	494	38	AP3D1	1	1
C19orf55	148137	broad.mit.edu	37	19	36253234	36253234	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36253234G>C	uc002obq.1	+	c.520G>C	c.(520-522)GCT>CCT	p.A174P	C19orf55_uc002obp.2_Missense_Mutation_p.A173P|C19orf55_uc002obo.1_Missense_Mutation_p.A174P	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	hypothetical protein LOC148137	174										ovary(1)	1	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.8	14.516373	14.921934	4	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36253234	36253234	2001	19	G	C	C	C	546	42	C19orf55	3	3
DPF1	8193	broad.mit.edu	37	19	38709662	38709662	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38709662G>T	uc002ohm.2	-	c.416C>A	c.(415-417)CCG>CAG	p.P139Q	DPF1_uc002ohl.2_Missense_Mutation_p.P139Q|DPF1_uc002ohn.2_Missense_Mutation_p.P57Q|DPF1_uc010xtu.1_Missense_Mutation_p.P113Q|DPF1_uc010xtv.1_Missense_Mutation_p.P113Q|DPF1_uc010xtw.1_Missense_Mutation_p.P113Q	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	139					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding				0	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)											0.486486	175.753223	175.770456	54	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38709662	38709662	4900	19	G	T	T	T	507	39	DPF1	1	1
EGLN2	112398	broad.mit.edu	37	19	41306994	41306994	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41306994G>T	uc010ehd.2	+	c.517G>T	c.(517-519)GCG>TCG	p.A173S	EGLN2_uc002opg.3_Missense_Mutation_p.A173S|EGLN2_uc002oph.2_Missense_Mutation_p.A173S|EGLN2_uc002opi.2_Missense_Mutation_p.A173S	NM_080732	NP_542770	Q96KS0	EGLN2_HUMAN	EGL nine (C.elegans) homolog 2	173					cell redox homeostasis|estrogen receptor signaling pathway|oxidation-reduction process|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)									0.569444	128.803336	129.113739	41	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41306994	41306994	5158	19	G	T	T	T	598	46	EGLN2	2	2
ATP5SL	55101	broad.mit.edu	37	19	41944255	41944255	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41944255G>A	uc002oqv.2	-	c.101C>T	c.(100-102)GCA>GTA	p.A34V	CYP2F1_uc010xvw.1_Intron|ATP5SL_uc002oqu.1_Non-coding_Transcript|ATP5SL_uc010xwa.1_Missense_Mutation_p.A34V|ATP5SL_uc002oqw.1_Missense_Mutation_p.A28V|ATP5SL_uc002oqx.1_Missense_Mutation_p.A28V|ATP5SL_uc002oqy.1_Missense_Mutation_p.A28V|ATP5SL_uc002oqz.1_Missense_Mutation_p.A28V|ATP5SL_uc002ora.1_Missense_Mutation_p.A15V|ATP5SL_uc010xwb.1_Missense_Mutation_p.A34V	NM_018035	NP_060505	Q9NW81	AT5SL_HUMAN	ATP5S-like	28										large_intestine(1)|breast(1)	2														0.3125	36.704057	38.208469	15	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41944255	41944255	1183	19	G	A	A	A	598	46	ATP5SL	2	2
PSG8	440533	broad.mit.edu	37	19	43258594	43258594	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43258594C>A	uc002ouo.2	-	c.1134G>T	c.(1132-1134)AAG>AAT	p.K378N	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Non-coding_Transcript|PSG8_uc002oui.2_Missense_Mutation_p.K217N|PSG8_uc002ouh.2_Missense_Mutation_p.K378N|PSG8_uc010ein.2_Missense_Mutation_p.K256N|PSG8_uc002ouj.3_Missense_Mutation_p.K160N|PSG8_uc002ouk.3_Missense_Mutation_p.K217N|PSG8_uc002oul.3_Missense_Mutation_p.K378N|PSG8_uc002oum.3_Missense_Mutation_p.K285N|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.K285N	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	378	Ig-like C2-type 3.					extracellular region					0		Prostate(69;0.00899)												0.211982	107.579769	124.185806	46	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43258594	43258594	13114	19	C	A	A	A	363	28	PSG8	2	2
PTPRS	5802	broad.mit.edu	37	19	5245847	5245847	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5245847T>A	uc002mbv.2	-	c.928A>T	c.(928-930)ACC>TCC	p.T310S	PTPRS_uc002mbu.1_Missense_Mutation_p.T297S|PTPRS_uc010xin.1_Missense_Mutation_p.T297S|PTPRS_uc002mbw.2_Missense_Mutation_p.T297S|PTPRS_uc002mbx.2_Missense_Mutation_p.T301S|PTPRS_uc002mby.2_Missense_Mutation_p.T297S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	310	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)										0.681818	51.133202	51.780759	15	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5245847	5245847	13269	19	T	A	A	A	767	59	PTPRS	3	3
ZNF416	55659	broad.mit.edu	37	19	58083957	58083957	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58083957C>A	uc002qpf.2	-	c.1315G>T	c.(1315-1317)GAG>TAG	p.E439*	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	439	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)										0.53125	106.345904	106.399758	34	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58083957	58083957	18486	19	C	A	A	A	377	29	ZNF416	5	2
ZNF559	84527	broad.mit.edu	37	19	9452452	9452452	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9452452C>T	uc002mle.3	+	c.517C>T	c.(517-519)CAC>TAC	p.H173Y	ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Missense_Mutation_p.H101Y|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF559_uc002mlg.2_Missense_Mutation_p.H109Y|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	109	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.591837	94.369108	94.728016	29	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9452452	9452452	18585	19	C	T	T	T	377	29	ZNF559	2	2
CTTNBP2NL	55917	broad.mit.edu	37	1	112999135	112999135	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:112999135C>A	uc001ebx.2	+	c.1021C>A	c.(1021-1023)CCT>ACT	p.P341T	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	341						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.264463	79.282559	85.344734	32	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112999135	112999135	4205	1	C	A	A	A	390	30	CTTNBP2NL	2	2
CSDE1	7812	broad.mit.edu	37	1	115273024	115273024	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115273024C>A	uc001efi.2	-	c.1349G>T	c.(1348-1350)AGA>ATA	p.R450I	CSDE1_uc001efj.2_Non-coding_Transcript|CSDE1_uc001efk.2_Missense_Mutation_p.R404I|CSDE1_uc001efl.2_Missense_Mutation_p.R373I|CSDE1_uc001efm.2_Missense_Mutation_p.R419I|CSDE1_uc009wgv.2_Missense_Mutation_p.R404I|CSDE1_uc001efn.2_Missense_Mutation_p.R373I	NM_001007553	NP_001007554	O75534	CSDE1_HUMAN	upstream of NRAS isoform 1	404	CSD 5.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			ovary(1)	1	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.230769	30.079301	33.528884	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115273024	115273024	4070	1	C	A	A	A	416	32	CSDE1	2	2
SDF4	51150	broad.mit.edu	37	1	1159282	1159282	+	Silent	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1159282C>A	uc001adh.3	-	c.393G>T	c.(391-393)ACG>ACT	p.T131T	SDF4_uc001adg.2_5'Flank|SDF4_uc001adi.3_Silent_p.T131T|SDF4_uc009vjv.2_Silent_p.T9T|SDF4_uc009vjw.2_Non-coding_Transcript|SDF4_uc001adj.1_Silent_p.T9T	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4 isoform 2	131	EF-hand 1.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)										0.366667	29.386477	29.86675	11	19	KEEP	---	---	---	---	capture		Silent	SNP	1159282	1159282	14447	1	C	A	A	A	288	23	SDF4	1	1
TCHHL1	126637	broad.mit.edu	37	1	152059800	152059800	+	Nonsense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152059800G>A	uc001ezo.1	-	c.358C>T	c.(358-360)CAG>TAG	p.Q120*		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	120							calcium ion binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)											0.144	27.669044	42.957166	18	107	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152059800	152059800	16227	1	G	A	A	A	585	45	TCHHL1	5	2
SMG5	23381	broad.mit.edu	37	1	156222815	156222815	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156222815T>A	uc001foc.3	-	c.2557A>T	c.(2557-2559)ATG>TTG	p.M853L	SMG5_uc009wrv.2_Missense_Mutation_p.M338L	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	853					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)													0.315789	19.043954	19.616966	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156222815	156222815	15294	1	T	A	A	A	663	51	SMG5	3	3
VHLL	391104	broad.mit.edu	37	1	156268936	156268936	+	Silent	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156268936C>A	uc001fok.2	-	c.45G>T	c.(43-45)GCG>GCT	p.A15A		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	15					protein ubiquitination	nucleus				ovary(1)	1	Hepatocellular(266;0.158)													0.128205	21.229717	36.924977	15	102	KEEP	---	---	---	---	capture		Silent	SNP	156268936	156268936	17730	1	C	A	A	A	288	23	VHLL	1	1
FCRL5	83416	broad.mit.edu	37	1	157514257	157514257	+	Silent	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157514257G>T	uc001fqu.2	-	c.639C>A	c.(637-639)ACC>ACA	p.T213T	FCRL5_uc009wsm.2_Silent_p.T213T|FCRL5_uc010phv.1_Silent_p.T213T|FCRL5_uc010phw.1_Silent_p.T128T|FCRL5_uc001fqv.1_Silent_p.T213T|FCRL5_uc010phx.1_5'UTR	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	213	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.215827	66.175059	76.551826	30	109	KEEP	---	---	---	---	capture		Silent	SNP	157514257	157514257	6035	1	G	T	T	T	548	43	FCRL5	2	2
OR10J3	441911	broad.mit.edu	37	1	159284274	159284274	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159284274G>C	uc010piu.1	-	c.176C>G	c.(175-177)CCC>CGC	p.P59R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_hematologic(112;0.0429)													0.486486	164.042864	164.063563	54	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159284274	159284274	11317	1	G	C	C	C	559	43	OR10J3	3	3
ADCY10	55811	broad.mit.edu	37	1	167798572	167798572	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167798572T>C	uc001ger.2	-	c.3683A>G	c.(3682-3684)AAG>AGG	p.K1228R	ADCY10_uc009wvj.2_Non-coding_Transcript|ADCY10_uc009wvk.2_Missense_Mutation_p.K1136R|ADCY10_uc010plj.1_Missense_Mutation_p.K1075R	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1228					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3														0.229885	53.864645	59.678006	20	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167798572	167798572	294	1	T	C	C	C	728	56	ADCY10	4	4
XCL2	6846	broad.mit.edu	37	1	168510283	168510283	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:168510283C>A	uc001gfn.3	-	c.252G>T	c.(250-252)ATG>ATT	p.M84I		NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2 precursor	84					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			ovary(1)	1	all_hematologic(923;0.215)													0.480769	73.95082	73.968353	25	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168510283	168510283	18005	1	C	A	A	A	273	21	XCL2	2	2
CACNA1E	777	broad.mit.edu	37	1	181706779	181706779	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181706779G>C	uc001gow.2	+	c.3541G>C	c.(3541-3543)GAG>CAG	p.E1181Q	CACNA1E_uc009wxs.2_Missense_Mutation_p.E1069Q|CACNA1E_uc001gox.1_Missense_Mutation_p.E407Q|CACNA1E_uc009wxt.2_Missense_Mutation_p.E407Q	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1181	Extracellular (Potential).|III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.409091	143.606097	144.411045	45	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181706779	181706779	2658	1	G	C	C	C	533	41	CACNA1E	3	3
USH2A	7399	broad.mit.edu	37	1	215813937	215813937	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215813937C>A	uc001hku.1	-	c.14931G>T	c.(14929-14931)TTG>TTT	p.L4977F		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4977	Fibronectin type-III 35.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.487805	62.108424	62.113026	20	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215813937	215813937	17598	1	C	A	A	A	272	21	USH2A	2	2
IARS2	55699	broad.mit.edu	37	1	220307776	220307776	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220307776G>T	uc001hmc.2	+	c.1870G>T	c.(1870-1872)GGA>TGA	p.G624*	IARS2_uc001hmd.2_5'Flank	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	624					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)									0.482143	83.904877	83.921037	27	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	220307776	220307776	7774	1	G	T	T	T	455	35	IARS2	5	2
TP53BP2	7159	broad.mit.edu	37	1	223990466	223990466	+	Silent	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:223990466C>T	uc010pvb.1	-	c.963G>A	c.(961-963)AAG>AAA	p.K321K	TP53BP2_uc001hod.2_Silent_p.K192K|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_5'Flank	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	315					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)										0.132911	66.89181	108.235257	42	274	KEEP	---	---	---	---	capture		Silent	SNP	223990466	223990466	16926	1	C	T	T	T	415	32	TP53BP2	2	2
URB2	9816	broad.mit.edu	37	1	229781606	229781606	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229781606G>T	uc001hts.1	+	c.3796G>T	c.(3796-3798)GCT>TCT	p.A1266S	URB2_uc009xfd.1_Missense_Mutation_p.A1266S	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1266						nucleolus				central_nervous_system(2)|ovary(1)	3									(NCIH1734-Tumor)	340				0.450495	267.085886	267.517646	91	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229781606	229781606	17587	1	G	T	T	T	546	42	URB2	2	2
SIPA1L2	57568	broad.mit.edu	37	1	232650286	232650286	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232650286G>A	uc001hvg.2	-	c.800C>T	c.(799-801)GCC>GTC	p.A267V		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	267					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.39759	96.891023	97.641206	33	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232650286	232650286	14825	1	G	A	A	A	546	42	SIPA1L2	2	2
ZP4	57829	broad.mit.edu	37	1	238048740	238048740	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238048740G>T	uc001hym.2	-	c.1111C>A	c.(1111-1113)CCC>ACC	p.P371T	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	371	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.575342	136.506438	136.86018	42	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238048740	238048740	18822	1	G	T	T	T	572	44	ZP4	2	2
KIF26B	55083	broad.mit.edu	37	1	245861603	245861603	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:245861603C>T	uc001ibf.1	+	c.6020C>T	c.(6019-6021)GCC>GTC	p.A2007V		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2007					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)											0.5	41.539567	41.539567	14	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	245861603	245861603	8606	1	C	T	T	T	338	26	KIF26B	2	2
OR2T4	127074	broad.mit.edu	37	1	248525370	248525370	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248525370G>A	uc001ieh.1	+	c.488G>A	c.(487-489)CGT>CAT	p.R163H		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	163	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.42963	354.324217	355.449919	116	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248525370	248525370	11433	1	G	A	A	A	520	40	OR2T4	1	1
CHD5	26038	broad.mit.edu	37	1	6194240	6194240	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6194240T>A	uc001amb.1	-	c.3092A>T	c.(3091-3093)AAG>ATG	p.K1031M	CHD5_uc001alz.1_5'Flank|CHD5_uc001ama.1_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript|CHD5_uc009vlx.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1031	Helicase C-terminal.				chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)					(KMS27-Tumor)	2304				0.328571	67.100329	68.924636	23	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6194240	6194240	3462	1	T	A	A	A	728	56	CHD5	3	3
SGIP1	84251	broad.mit.edu	37	1	67147734	67147734	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67147734G>T	uc001dcr.2	+	c.997G>T	c.(997-999)GTG>TTG	p.V333L	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.V100L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	333	Pro-rich.				intracellular protein transport|positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess|vesicle-mediated transport	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3														0.307692	125.669439	130.797668	48	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67147734	67147734	14697	1	G	T	T	T	468	36	SGIP1	2	2
DPYD	1806	broad.mit.edu	37	1	97839179	97839179	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:97839179C>A	uc001drv.2	-	c.1996G>T	c.(1996-1998)GAG>TAG	p.E666*		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	666	Uracil binding (Potential).				'de novo' pyrimidine base biosynthetic process|oxidation-reduction process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|breast(2)	5		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)					533				0.232558	23.326061	26.143858	10	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	97839179	97839179	4929	1	C	A	A	A	390	30	DPYD	5	2
LIPI	149998	broad.mit.edu	37	21	15538748	15538748	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:15538748C>T	uc002yjm.2	-	c.731G>A	c.(730-732)GGA>GAA	p.G244E	LIPI_uc010gkw.1_Intron	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	223					lipid catabolic process	extracellular region|extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)										0.433333	110.657335	111.010177	39	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15538748	15538748	9152	21	C	T	T	T	390	30	LIPI	2	2
USP25	29761	broad.mit.edu	37	21	17199412	17199412	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:17199412C>T	uc011aby.1	+	c.1583C>T	c.(1582-1584)CCT>CTT	p.P528L	USP25_uc002yjy.1_Missense_Mutation_p.P528L|USP25_uc002yjz.1_Missense_Mutation_p.P528L|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	528					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)										0.357143	65.292873	66.295838	20	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17199412	17199412	17619	21	C	T	T	T	312	24	USP25	2	2
MOV10L1	54456	broad.mit.edu	37	22	50555597	50555597	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50555597G>A	uc003bjj.2	+	c.1271G>A	c.(1270-1272)CGC>CAC	p.R424H	MOV10L1_uc003bjk.3_Missense_Mutation_p.R424H|MOV10L1_uc011arp.1_Missense_Mutation_p.R404H|MOV10L1_uc011arq.1_Missense_Mutation_p.R185H|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	424					germ cell development|multicellular organismal development|spermatogenesis	intracellular	ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)	2		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)										0.59596	187.467712	188.284728	59	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50555597	50555597	10111	22	G	A	A	A	494	38	MOV10L1	1	1
ST6GAL2	84620	broad.mit.edu	37	2	107423368	107423368	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:107423368G>T	uc002tdq.2	-	c.1356C>A	c.(1354-1356)CAC>CAA	p.H452Q	ST6GAL2_uc002tdr.2_Missense_Mutation_p.H452Q	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	452	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(3)	9														0.736842	45.856645	46.820162	14	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107423368	107423368	15740	2	G	T	T	T	516	40	ST6GAL2	1	1
COL5A2	1290	broad.mit.edu	37	2	189906364	189906364	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189906364C>G	uc002uqk.2	-	c.3581G>C	c.(3580-3582)GGG>GCG	p.G1194A	COL5A2_uc010frx.2_Missense_Mutation_p.G770A	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1194					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.564516	117.531809	117.757152	35	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189906364	189906364	3835	2	C	G	G	G	286	22	COL5A2	3	3
GPR55	9290	broad.mit.edu	37	2	231774828	231774829	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231774828_231774829CC>AA	uc002vrg.2	-	c.849_850GG>TT	c.(847-852)CTGGAT>CTTTAT	p.D284Y	GPR55_uc002vrf.2_Non-coding_Transcript|GPR55_uc010fxs.1_Missense_Mutation_p.D284Y	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	284	Helical; Name=7; (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)										0.586957	173.472276	174.095314	54	38	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	231774828	231774829	6974	2	CC	AA	AA	AA	390	30	GPR55	2	2
MLPH	79083	broad.mit.edu	37	2	238462217	238462217	+	Silent	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238462217G>T	uc002vwt.2	+	c.1785G>T	c.(1783-1785)GTG>GTT	p.V595V	MLPH_uc002vws.2_Silent_p.V452V|MLPH_uc002vwu.2_Silent_p.V567V|MLPH_uc002vwv.2_Silent_p.V475V|MLPH_uc002vww.2_Silent_p.V491V|MLPH_uc002vwx.2_Silent_p.V451V|MLPH_uc010fyu.2_Silent_p.V347V	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	595							zinc ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)										0.606061	65.703985	66.028329	20	13	KEEP	---	---	---	---	capture		Silent	SNP	238462217	238462217	10023	2	G	T	T	T	600	47	MLPH	2	2
C2orf16	84226	broad.mit.edu	37	2	27805334	27805334	+	Silent	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27805334C>A	uc002rkz.3	+	c.5895C>A	c.(5893-5895)CTC>CTA	p.L1965L	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1965										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)													0.561644	128.923784	129.159277	41	32	KEEP	---	---	---	---	capture		Silent	SNP	27805334	27805334	2243	2	C	A	A	A	392	31	C2orf16	1	1
PLSCR5	389158	broad.mit.edu	37	3	146311746	146311746	+	Silent	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:146311746C>T	uc003ewb.2	-	c.414G>A	c.(412-414)TTG>TTA	p.L138L	PLSCR5_uc010hvb.2_Silent_p.L126L|PLSCR5_uc010hvc.2_Silent_p.L138L	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	138											0														0.234375	35.089506	39.224518	15	49	KEEP	---	---	---	---	capture		Silent	SNP	146311746	146311746	12539	3	C	T	T	T	376	29	PLSCR5	2	2
TNIK	23043	broad.mit.edu	37	3	170929013	170929013	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170929013G>C	uc003fhh.2	-	c.198C>G	c.(196-198)ATC>ATG	p.I66M	TNIK_uc003fhi.2_Missense_Mutation_p.I66M|TNIK_uc003fhj.2_Missense_Mutation_p.I66M|TNIK_uc003fhk.2_Missense_Mutation_p.I66M|TNIK_uc003fhl.2_Missense_Mutation_p.I66M|TNIK_uc003fhm.2_Missense_Mutation_p.I66M|TNIK_uc003fhn.2_Missense_Mutation_p.I66M|TNIK_uc003fho.2_Missense_Mutation_p.I66M	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	66	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)							743				0.157895	19.353548	25.707494	9	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170929013	170929013	16854	3	G	C	C	C	577	45	TNIK	3	3
SRGAP3	9901	broad.mit.edu	37	3	9034680	9034680	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9034680G>T	uc003brf.1	-	c.2468C>A	c.(2467-2469)CCA>CAA	p.P823Q	SRGAP3_uc003brg.1_Missense_Mutation_p.P799Q	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	823					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|urinary_tract(1)|breast(1)	6				OV - Ovarian serous cystadenocarcinoma(96;0.0563)										0.189189	15.108875	18.44953	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9034680	9034680	15661	3	G	T	T	T	611	47	SRGAP3	2	2
NPY5R	4889	broad.mit.edu	37	4	164271827	164271827	+	Silent	SNP	A	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164271827A>T	uc003iqn.2	+	c.402A>T	c.(400-402)TCA>TCT	p.S134S		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	134	Helical; Name=3; (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane					0	all_hematologic(180;0.166)	Prostate(90;0.109)				Melanoma(139;1287 1774 9781 19750 25599)								0.269504	102.509885	109.255437	38	103	KEEP	---	---	---	---	capture		Silent	SNP	164271827	164271827	11015	4	A	T	T	T	54	5	NPY5R	3	3
SLIT2	9353	broad.mit.edu	37	4	20618729	20618729	+	Silent	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20618729C>T	uc003gpr.1	+	c.4044C>T	c.(4042-4044)CCC>CCT	p.P1348P	SLIT2_uc003gps.1_Silent_p.P1340P	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1348	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.456522	64.9889	65.061434	21	25	KEEP	---	---	---	---	capture		Silent	SNP	20618729	20618729	15238	4	C	T	T	T	262	21	SLIT2	2	2
NOP14	8602	broad.mit.edu	37	4	2958508	2958508	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2958508G>C	uc003ggj.1	-	c.361C>G	c.(361-363)CTA>GTA	p.L121V	C4orf10_uc003ggi.1_Intron|NOP14_uc003ggk.3_Missense_Mutation_p.L121V|NOP14_uc003ggl.2_Missense_Mutation_p.L121V|NOP14_uc010icq.1_Non-coding_Transcript	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	121					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1														0.145161	18.798827	26.253605	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2958508	2958508	10939	4	G	C	C	C	425	33	NOP14	3	3
LRRC66	339977	broad.mit.edu	37	4	52861716	52861716	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52861716C>A	uc003gzi.2	-	c.1472G>T	c.(1471-1473)TGC>TTC	p.C491F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	491						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.234568	47.489404	52.706438	19	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52861716	52861716	9393	4	C	A	A	A	325	25	LRRC66	2	2
LPHN3	23284	broad.mit.edu	37	4	62845485	62845485	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62845485C>A	uc010ihh.2	+	c.2806C>A	c.(2806-2808)CAA>AAA	p.Q936K	LPHN3_uc003hcq.3_Missense_Mutation_p.Q936K|LPHN3_uc003hct.2_Missense_Mutation_p.Q329K	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	923	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.157303	27.006751	36.967062	14	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62845485	62845485	9290	4	C	A	A	A	273	21	LPHN3	2	2
UBA6	55236	broad.mit.edu	37	4	68490853	68490853	+	Silent	SNP	T	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68490853T>A	uc003hdg.3	-	c.2571A>T	c.(2569-2571)GGA>GGT	p.G857G		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	857					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0														0.278481	59.01625	62.503536	22	57	KEEP	---	---	---	---	capture		Silent	SNP	68490853	68490853	17389	4	T	A	A	A	743	58	UBA6	3	3
ANKRD56	345079	broad.mit.edu	37	4	77817883	77817883	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77817883C>A	uc003hki.2	-	c.1120G>T	c.(1120-1122)GCG>TCG	p.A374S		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	374											0														0.189189	26.0149	32.717695	14	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77817883	77817883	690	4	C	A	A	A	338	26	ANKRD56	2	2
UNC5C	8633	broad.mit.edu	37	4	96256587	96256587	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96256587A>G	uc003htp.1	-	c.320T>C	c.(319-321)GTA>GCA	p.V107A	UNC5C_uc010ilc.1_Missense_Mutation_p.V107A|UNC5C_uc003htq.2_Missense_Mutation_p.V107A	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	107	Extracellular (Potential).|Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)										0.194444	16.413861	19.542006	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96256587	96256587	17551	4	A	G	G	G	182	14	UNC5C	4	4
DMXL1	1657	broad.mit.edu	37	5	118484728	118484728	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118484728G>T	uc010jcl.1	+	c.3206G>T	c.(3205-3207)AGA>ATA	p.R1069I	DMXL1_uc003ksd.2_Missense_Mutation_p.R1069I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1069										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)										0.203822	68.929853	81.708045	32	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118484728	118484728	4776	5	G	T	T	T	429	33	DMXL1	2	2
PCDHGA3	56112	broad.mit.edu	37	5	140724004	140724004	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140724004C>A	uc003ljm.1	+	c.404C>A	c.(403-405)ACA>AAA	p.T135K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc011dap.1_Missense_Mutation_p.T135K	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	135	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.266667	22.202087	23.667477	8	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140724004	140724004	11975	5	C	A	A	A	221	17	PCDHGA3	2	2
PCDHGA8	9708	broad.mit.edu	37	5	140772574	140772574	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140772574G>T	uc003lkd.1	+	c.194G>T	c.(193-195)CGT>CTT	p.R65L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.R65L	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	65	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.233333	35.621013	39.529975	14	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140772574	140772574	11980	5	G	T	T	T	520	40	PCDHGA8	1	1
ATP10B	23120	broad.mit.edu	37	5	160034041	160034041	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:160034041C>T	uc003lym.1	-	c.2891G>A	c.(2890-2892)CGT>CAT	p.R964H	ATP10B_uc010jit.1_Missense_Mutation_p.R281H	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	964	Cytoplasmic (Potential).				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			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.210526	38.069143	43.954144	16	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160034041	160034041	1136	5	C	T	T	T	247	19	ATP10B	1	1
KCNMB1	3779	broad.mit.edu	37	5	169810738	169810738	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169810738G>T	uc003maq.1	-	c.251C>A	c.(250-252)GCC>GAC	p.A84D	KCNIP1_uc003map.2_Intron|KCNMB1_uc003mar.2_Missense_Mutation_p.A84D	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated	84	Extracellular (Potential).				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			ovary(2)	2	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)										0.194444	14.903967	18.039729	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169810738	169810738	8379	5	G	T	T	T	546	42	KCNMB1	2	2
GABRP	2568	broad.mit.edu	37	5	170235745	170235745	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:170235745G>T	uc003mau.2	+	c.821G>T	c.(820-822)AGA>ATA	p.R274I	GABRP_uc011dev.1_Missense_Mutation_p.R274I	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	274	Helical; (Potential).					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.173077	16.040281	21.292055	9	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170235745	170235745	6425	5	G	T	T	T	429	33	GABRP	2	2
GRM6	2916	broad.mit.edu	37	5	178418906	178418906	+	Missense_Mutation	SNP	C	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178418906C>G	uc003mjr.2	-	c.683G>C	c.(682-684)AGT>ACT	p.S228T	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	228	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				ovary(2)|breast(1)|pancreas(1)	4	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)										0.264706	20.049147	21.759766	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178418906	178418906	7080	5	C	G	G	G	260	20	GRM6	3	3
CDH9	1007	broad.mit.edu	37	5	26906151	26906151	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26906151C>T	uc003jgs.1	-	c.728G>A	c.(727-729)GGC>GAC	p.G243D	CDH9_uc010iug.2_Missense_Mutation_p.G243D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	243	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.284553	88.574725	93.703649	35	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26906151	26906151	3246	5	C	T	T	T	338	26	CDH9	2	2
F2RL2	2151	broad.mit.edu	37	5	75913949	75913949	+	Missense_Mutation	SNP	T	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75913949T>C	uc003kem.2	-	c.583A>G	c.(583-585)ATC>GTC	p.I195V	IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.I173V	NM_004101	NP_004092	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	195	Cytoplasmic (Potential).				platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			skin(2)|ovary(1)	3		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)										0.354167	48.37403	49.26797	17	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75913949	75913949	5539	5	T	C	C	C	663	51	F2RL2	4	4
FASTKD3	79072	broad.mit.edu	37	5	7866983	7866983	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7866983G>C	uc003jeb.2	-	c.1214C>G	c.(1213-1215)CCT>CGT	p.P405R	FASTKD3_uc011cmp.1_Missense_Mutation_p.P107R|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	405					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4														0.25974	47.560342	51.590285	20	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7866983	7866983	5923	5	G	C	C	C	455	35	FASTKD3	3	3
TAS2R1	50834	broad.mit.edu	37	5	9629408	9629408	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9629408A>T	uc003jem.1	-	c.737T>A	c.(736-738)TTT>TAT	p.F246Y		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	taste receptor T2R1	246	Extracellular (Potential).				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			ovary(3)	3														0.463768	91.572398	91.652916	32	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9629408	9629408	16087	5	A	T	T	T	13	1	TAS2R1	3	3
PTPRK	5796	broad.mit.edu	37	6	128319937	128319937	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128319937C>A	uc011ebu.1	-	c.2655G>T	c.(2653-2655)AGG>AGT	p.R885S	PTPRK_uc003qbj.2_Missense_Mutation_p.R869S|PTPRK_uc010kfc.2_Missense_Mutation_p.R869S|PTPRK_uc003qbk.2_Missense_Mutation_p.R868S|PTPRK_uc010kfd.1_Missense_Mutation_p.R94S	NM_001135648	NP_001129120	Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	868	Cytoplasmic (Potential).				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)										0.574468	84.822307	85.048557	27	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128319937	128319937	13262	6	C	A	A	A	285	22	PTPRK	2	2
PDE10A	10846	broad.mit.edu	37	6	165806181	165806181	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165806181A>T	uc003quo.2	-	c.1610T>A	c.(1609-1611)ATG>AAG	p.M537K	PDE10A_uc011egj.1_Non-coding_Transcript|PDE10A_uc011egk.1_Missense_Mutation_p.M457K|PDE10A_uc003qun.2_Missense_Mutation_p.M527K	NM_001130690	NP_001124162	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 1	527					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)	3		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	Esophageal Squamous(22;308 615 5753 12038 40624)								0.216216	21.280098	24.028634	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165806181	165806181	12051	6	A	T	T	T	104	8	PDE10A	3	3
CYB5R4	51167	broad.mit.edu	37	6	84603269	84603269	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:84603269G>T	uc003pkf.2	+	c.258G>T	c.(256-258)ATG>ATT	p.M86I		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	86	Cytochrome b5 heme-binding.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|oxidation-reduction process|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(2)	2		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		Esophageal Squamous(86;1289 1332 25971 40349 52675)				343				0.553846	123.111205	123.276611	36	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84603269	84603269	4294	6	G	T	T	T	611	47	CYB5R4	2	2
LAMB4	22798	broad.mit.edu	37	7	107710286	107710286	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107710286G>C	uc010ljo.1	-	c.2169C>G	c.(2167-2169)AGC>AGG	p.S723R	LAMB4_uc003vey.2_Missense_Mutation_p.S723R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	723	Laminin IV type B.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.435644	145.274893	145.656922	44	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107710286	107710286	8936	7	G	C	C	C	594	46	LAMB4	3	3
KEL	3792	broad.mit.edu	37	7	142649603	142649603	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142649603G>T	uc003wcb.2	-	c.1196C>A	c.(1195-1197)CCA>CAA	p.P399Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	399	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)													0.283784	51.433824	54.551761	21	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142649603	142649603	8448	7	G	T	T	T	611	47	KEL	2	2
CASP2	835	broad.mit.edu	37	7	143001797	143001797	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143001797G>T	uc003wco.2	+	c.1148G>T	c.(1147-1149)GGT>GTT	p.G383V	CASP2_uc003wcp.2_3'UTR|CASP2_uc011kta.1_Missense_Mutation_p.G267V|CASP2_uc003wcq.2_Non-coding_Transcript|CASP2_uc011ktb.1_Missense_Mutation_p.G133V	NM_032982	NP_116764	P42575	CASP2_HUMAN	caspase 2 isoform 1 preproprotein	383					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding				0	Melanoma(164;0.059)									155				0.449612	174.20465	174.493001	58	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143001797	143001797	2790	7	G	T	T	T	572	44	CASP2	2	2
OR2A14	135941	broad.mit.edu	37	7	143826473	143826473	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143826473A>G	uc011kua.1	+	c.268A>G	c.(268-270)ACC>GCC	p.T90A		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.210937	111.185846	131.050294	54	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143826473	143826473	11382	7	A	G	G	G	78	6	OR2A14	4	4
SSPO	23145	broad.mit.edu	37	7	149482801	149482801	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149482801G>C	uc010lpk.2	+	c.3217G>C	c.(3217-3219)GAG>CAG	p.E1073Q	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1073	VWFD 3.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.454545	14.550535	14.572719	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149482801	149482801	15705	7	G	C	C	C	533	41	SSPO	3	3
HDAC9	9734	broad.mit.edu	37	7	18625111	18625111	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18625111G>T	uc003sui.2	+	c.230G>T	c.(229-231)CGG>CTG	p.R77L	HDAC9_uc003sue.2_Missense_Mutation_p.R77L|HDAC9_uc011jyd.1_Missense_Mutation_p.R77L|HDAC9_uc003suh.2_Missense_Mutation_p.R77L|HDAC9_uc003suj.2_Missense_Mutation_p.R77L|HDAC9_uc011jya.1_Missense_Mutation_p.R118L|HDAC9_uc003sua.1_Missense_Mutation_p.R96L|HDAC9_uc011jyb.1_Missense_Mutation_p.R77L|HDAC9_uc003sud.1_Missense_Mutation_p.R77L|HDAC9_uc011jyc.1_Missense_Mutation_p.R77L|HDAC9_uc003suf.1_Missense_Mutation_p.R105L|HDAC9_uc010kud.1_Missense_Mutation_p.R77L|HDAC9_uc011jye.1_Missense_Mutation_p.R46L|HDAC9_uc011jyf.1_Missense_Mutation_p.R46L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	77					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.487179	61.123927	61.129471	19	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18625111	18625111	7297	7	G	T	T	T	507	39	HDAC9	1	1
PKD1L1	168507	broad.mit.edu	37	7	47976473	47976473	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47976473G>T	uc003tny.1	-	c.368C>A	c.(367-369)GCG>GAG	p.A123E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	123	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.25	74.359029	80.58357	28	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47976473	47976473	12388	7	G	T	T	T	494	38	PKD1L1	1	1
MMD2	221938	broad.mit.edu	37	7	4949568	4949568	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4949568C>T	uc003sno.3	-	c.553G>A	c.(553-555)GAG>AAG	p.E185K	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.3_Missense_Mutation_p.E161K|MMD2_uc010ksq.2_Missense_Mutation_p.E161K	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	185	Helical; (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)										0.5	62.698161	62.698161	20	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4949568	4949568	10034	7	C	T	T	T	390	30	MMD2	2	2
EGFR	1956	broad.mit.edu	37	7	55259441	55259441	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55259441G>T	uc003tqk.2	+	c.2499G>T	c.(2497-2499)TTG>TTT	p.L833F	EGFR_uc010kzg.1_Missense_Mutation_p.L788F|EGFR_uc011kco.1_Missense_Mutation_p.L780F	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	833	Cytoplasmic (Potential).|Protein kinase.		L -> V (found in a lung cancer sample).		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 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 MAP kinase activity|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 stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L833V(3)|p.L788F(1)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	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)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.257576	41.334036	44.860242	17	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55259441	55259441	5156	7	G	T	T	T	607	47	EGFR	2	2
EGFR	1956	broad.mit.edu	37	7	55259524	55259524	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55259524T>A	uc003tqk.2	+	c.2582T>A	c.(2581-2583)CTG>CAG	p.L861Q	EGFR_uc010kzg.1_Missense_Mutation_p.L816Q|EGFR_uc011kco.1_Missense_Mutation_p.L808Q	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	861	Cytoplasmic (Potential).|Protein kinase.		L -> Q (found in a lung cancer sample).		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 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 MAP kinase activity|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 stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L861Q(77)|p.L861R(9)|p.A859_L883>V(2)|p.L861F(1)|p.L861P(1)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	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)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.228571	42.688205	47.401333	16	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55259524	55259524	5156	7	T	A	A	A	715	55	EGFR	3	3
AUTS2	26053	broad.mit.edu	37	7	69364318	69364318	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:69364318C>T	uc003tvw.3	+	c.356C>T	c.(355-357)ACG>ATG	p.T119M	AUTS2_uc003tvv.3_Missense_Mutation_p.T119M|AUTS2_uc003tvx.3_Missense_Mutation_p.T119M	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	119										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)										0.307692	53.37615	55.519164	20	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69364318	69364318	1246	7	C	T	T	T	247	19	AUTS2	1	1
PCLO	27445	broad.mit.edu	37	7	82579138	82579138	+	Missense_Mutation	SNP	T	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82579138T>A	uc003uhx.2	-	c.10766A>T	c.(10765-10767)GAC>GTC	p.D3589V	PCLO_uc003uhv.2_Missense_Mutation_p.D3589V|PCLO_uc010lec.2_Missense_Mutation_p.D554V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3520					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.578947	101.574843	101.884509	33	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82579138	82579138	12003	7	T	A	A	A	754	58	PCLO	3	3
FAM91A1	157769	broad.mit.edu	37	8	124824817	124824817	+	Missense_Mutation	SNP	A	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124824817A>G	uc003yqv.2	+	c.2390A>G	c.(2389-2391)CAG>CGG	p.Q797R	FAM91A1_uc011lil.1_Missense_Mutation_p.Q555R	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	797										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)											0.641975	168.202489	169.636136	52	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124824817	124824817	5887	8	A	G	G	G	91	7	FAM91A1	4	4
BAI1	575	broad.mit.edu	37	8	143560728	143560728	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143560728G>C	uc003ywm.2	+	c.1606G>C	c.(1606-1608)GTC>CTC	p.V536L		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	536	Extracellular (Potential).|TSP type-1 5.				axonogenesis|cell adhesion|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)									829				0.8	40.085076	41.332548	12	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143560728	143560728	1319	8	G	C	C	C	520	40	BAI1	3	3
PDGFRL	5157	broad.mit.edu	37	8	17434764	17434764	+	Missense_Mutation	SNP	G	C	C			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17434764G>C	uc003wxr.2	+	c.3G>C	c.(1-3)ATG>ATC	p.M1I		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	1						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity				0				Colorectal(111;0.0752)								OREG0018579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.307692	11.89731	12.32466	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17434764	17434764	12084	8	G	C	C	C	585	45	PDGFRL	3	3
SLC25A37	51312	broad.mit.edu	37	8	23429084	23429084	+	Missense_Mutation	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:23429084G>T	uc003xdo.2	+	c.733G>T	c.(733-735)GGG>TGG	p.G245W	SLC25A37_uc003xdp.2_Non-coding_Transcript|SLC25A37_uc010ltz.2_Non-coding_Transcript|SLC25A37_uc003xdq.2_Non-coding_Transcript|SLC25A37_uc003xdr.1_Non-coding_Transcript	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	245	Solcar 3.|Helical; Name=5; (Potential).				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)										0.428571	16.846553	16.909021	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23429084	23429084	14998	8	G	T	T	T	507	39	SLC25A37	1	1
NEFM	4741	broad.mit.edu	37	8	24775338	24775338	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24775338C>T	uc003xed.3	+	c.1970C>T	c.(1969-1971)CCG>CTG	p.P657L	NEFM_uc011lac.1_Intron|NEFM_uc010lue.2_Missense_Mutation_p.P281L	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	657	4.|6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)										0.571429	64.50431	64.660658	20	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24775338	24775338	10715	8	C	T	T	T	299	23	NEFM	1	1
PRKDC	5591	broad.mit.edu	37	8	48711844	48711844	+	Silent	SNP	C	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48711844C>G	uc003xqi.2	-	c.10224G>C	c.(10222-10224)GGG>GGC	p.G3408G	PRKDC_uc003xqj.2_Silent_p.G3408G|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3408	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.589286	99.39074	99.786048	33	23	KEEP	---	---	---	---	capture		Silent	SNP	48711844	48711844	12964	8	C	G	G	G	275	22	PRKDC	3	3
STAU2	27067	broad.mit.edu	37	8	74585457	74585458	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:74585457_74585458CC>AA	uc003xzm.2	-	c.294_295GG>TT	c.(292-297)GTGGAA>GTTTAA	p.E99*	STAU2_uc011lfg.1_Intron|STAU2_uc003xzn.2_Nonsense_Mutation_p.E67*|STAU2_uc011lfh.1_5'UTR|STAU2_uc003xzo.2_Nonsense_Mutation_p.E99*|STAU2_uc003xzp.2_Nonsense_Mutation_p.E67*|STAU2_uc011lfi.1_Nonsense_Mutation_p.E61*|STAU2_uc003xzq.2_Intron|STAU2_uc010lzk.2_Nonsense_Mutation_p.E67*|STAU2_uc010lzl.1_Intron|STAU2_uc003xzs.2_Nonsense_Mutation_p.E67*|STAU2_uc003xzr.2_Nonsense_Mutation_p.E61*	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	99	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)											0.741935	151.514455	154.785455	46	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	74585457	74585458	15793	8	CC	AA	AA	AA	390	30	STAU2	5	2
TMOD1	7111	broad.mit.edu	37	9	100353718	100353718	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100353718G>T	uc004axk.1	+	c.1015_splice	c.e9+1	p.V339_splice	TMOD1_uc004axl.1_Splice_Site_SNP_p.V339_splice	NM_003275	NP_003266			tropomodulin 1						muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)										0.30303	58.697166	60.970182	20	46	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	100353718	100353718	16773	9	G	T	T	T	572	44	TMOD1	5	2
COL15A1	1306	broad.mit.edu	37	9	101798476	101798476	+	Missense_Mutation	SNP	C	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101798476C>T	uc004azb.1	+	c.2314C>T	c.(2314-2316)CGG>TGG	p.R772W		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	772	Triple-helical region 3 (COL3).				angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.307692	59.882661	62.021592	20	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101798476	101798476	3810	9	C	T	T	T	295	23	COL15A1	1	1
TLN1	7094	broad.mit.edu	37	9	35712916	35712916	+	Silent	SNP	C	G	G			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35712916C>G	uc003zxt.2	-	c.3477G>C	c.(3475-3477)CTG>CTC	p.L1159L		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1159					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|cell-cell junction|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)							587				0.5	11.89901	11.89901	4	4	KEEP	---	---	---	---	capture		Silent	SNP	35712916	35712916	16477	9	C	G	G	G	262	21	TLN1	3	3
TLE1	7088	broad.mit.edu	37	9	84228380	84228380	+	Silent	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84228380G>A	uc004alz.2	-	c.1005C>T	c.(1003-1005)GAC>GAT	p.D335D	TLE1_uc004aly.2_Silent_p.D325D|TLE1_uc011lsr.1_Silent_p.D325D|TLE1_uc004ama.1_Silent_p.D325D|TLE1_uc011lss.1_Silent_p.D251D	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	325	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)	1						NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)				350				0.217391	20.627039	24.014578	10	36	KEEP	---	---	---	---	capture		Silent	SNP	84228380	84228380	16468	9	G	A	A	A	620	48	TLE1	2	2
SAGE1	55511	broad.mit.edu	37	X	134988657	134988657	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134988657G>A	uc004ezh.2	+	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	SAGE1_uc010nry.1_Missense_Mutation_p.R197Q|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	228										ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.403315	233.450119	234.925954	73	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134988657	134988657	14289	23	G	A	A	A	507	39	SAGE1	1	1
PDK3	5165	broad.mit.edu	37	X	24537108	24537108	+	Silent	SNP	G	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24537108G>T	uc004dbh.2	+	c.654G>T	c.(652-654)CTG>CTT	p.L218L	PDK3_uc004dbg.2_Silent_p.L218L	NM_001142386	NP_001135858	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase 3 isoform 1	218	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6										227				0.780488	113.122557	116.093639	32	9	KEEP	---	---	---	---	capture		Silent	SNP	24537108	24537108	12098	23	G	T	T	T	600	47	PDK3	2	2
MXRA5	25878	broad.mit.edu	37	X	3229355	3229355	+	Missense_Mutation	SNP	G	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3229355G>A	uc004crg.3	-	c.6889C>T	c.(6889-6891)CGC>TGC	p.R2297C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2297	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.236364	30.098833	33.558667	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3229355	3229355	10397	23	G	A	A	A	520	40	MXRA5	1	1
CXorf36	79742	broad.mit.edu	37	X	45051168	45051168	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:45051168C>A	uc004dgg.2	-	c.326G>T	c.(325-327)CGC>CTC	p.R109L	CXorf36_uc004dgi.3_Missense_Mutation_p.R109L	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	109						extracellular region				lung(1)	1														0.666667	80.263243	81.07671	22	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45051168	45051168	4267	23	C	A	A	A	351	27	CXorf36	1	1
STARD8	9754	broad.mit.edu	37	X	67937333	67937333	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67937333C>A	uc004dxb.2	+	c.577C>A	c.(577-579)CAG>AAG	p.Q193K	STARD8_uc004dxa.2_Missense_Mutation_p.Q113K|STARD8_uc004dxc.3_Missense_Mutation_p.Q113K	NM_001142503	NP_001135975	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	113					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6														0.864865	108.020538	112.79447	32	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67937333	67937333	15782	23	C	A	A	A	273	21	STARD8	2	2
ZCCHC5	203430	broad.mit.edu	37	X	77912915	77912915	+	Missense_Mutation	SNP	C	A	A			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77912915C>A	uc004edc.1	-	c.1003G>T	c.(1003-1005)GGG>TGG	p.G335W		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	335							nucleic acid binding|zinc ion binding			ovary(1)	1														0.75	61.761381	63.124971	18	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77912915	77912915	18179	23	C	A	A	A	312	24	ZCCHC5	2	2
KLHL4	56062	broad.mit.edu	37	X	86877364	86877364	+	Missense_Mutation	SNP	A	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:86877364A>T	uc004efa.2	+	c.1078A>T	c.(1078-1080)AGG>TGG	p.R360W	KLHL4_uc004efb.2_Missense_Mutation_p.R360W	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 2	360						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5														0.740741	141.739756	144.600121	40	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86877364	86877364	8705	23	A	T	T	T	192	15	KLHL4	3	3
IRS2	8660	broad.mit.edu	37	13	110435129	110435129	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110435129_110435129delG	uc001vqv.2	-	c.3272_3272delC	c.(3271-3273)CCGfs	p.P1091fs		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1091					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	5	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			Melanoma(100;613 2409 40847)				156				0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	110435129	110435129	8145	13	G	-	-	-	507	39	IRS2	5	5
PPM1E	22843	broad.mit.edu	37	17	56833457	56833458	+	In_Frame_Ins	INS	-	GAACCC	GAACCC	rs74256772		TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56833457_56833458insGAACCC	uc002iwx.2	+	c.99_100insGAACCC	c.(97-102)insGAACCC	p.43_44insEP	PPM1E_uc010ddd.2_5'UTR	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	43_44	Glu-rich.|Pro-rich.|11 X 2 AA tandem repeats of P-E.|7.		E -> EPE.		protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)						p.43_44insEP(RT112-Tumor)	128				0.75			6	2		---	---	---	---	capture_indel		In_Frame_Ins	INS	56833457	56833458	12773	17	-	GAACCC	GAACCC	GAACCC	496	39	PPM1E	5	5
BIRC6	57448	broad.mit.edu	37	2	32658718	32658719	+	Frame_Shift_Ins	INS	-	T	T			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32658718_32658719insT	uc010ezu.2	+	c.3255_3256insT	c.(3253-3258)AGCTGGfs	p.S1085fs		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1085_1086					anti-apoptosis|apoptosis|post-translational protein modification	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.48			10	11		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	32658718	32658719	1463	2	-	T	T	T	363	28	BIRC6	5	5
SPDYE1	285955	broad.mit.edu	37	7	44042208	44042208	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-5423-01	TCGA-05-5423-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44042208_44042208delC	uc003tjf.2	+	c.279_279delC	c.(277-279)AGCfs	p.S93fs	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.2_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.3_Intron	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Williams Beuren syndrome chromosome region 19	93										ovary(1)	1														0.50			3	3		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	44042208	44042208	15539	7	C	-	-	-	337	26	SPDYE1	5	5
