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
CPN1	1369	broad.mit.edu	37	10	101808538	101808538	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101808538C>T	uc001kql.2	-	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	403					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)										0.095238	6.714903	27.425781	12	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101808538	101808538	3947	10	C	T	T	T	247	19	CPN1	1	1
C10orf26	54838	broad.mit.edu	37	10	104557800	104557800	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104557800A>T	uc001kwf.3	+	c.141A>T	c.(139-141)ACA>ACT	p.T47T	C10orf26_uc009xxg.1_Non-coding_Transcript|C10orf26_uc001kwe.3_Silent_p.T26T	NM_001083913	NP_001077382	Q9NX94	OPA1L_HUMAN	hypothetical protein LOC54838 isoform 1	26						integral to membrane				central_nervous_system(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224)										0.184211	30.804788	37.9146	14	62	KEEP	---	---	---	---	capture		Silent	SNP	104557800	104557800	1636	10	A	T	T	T	80	7	C10orf26	3	3
NHLRC2	374354	broad.mit.edu	37	10	115668188	115668188	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115668188G>C	uc001lax.1	+	c.2074G>C	c.(2074-2076)GAC>CAC	p.D692H	NHLRC2_uc001lay.1_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	692					cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)										0.089286	6.261999	25.341872	10	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115668188	115668188	10806	10	G	C	C	C	429	33	NHLRC2	3	3
SLC18A2	6571	broad.mit.edu	37	10	119026324	119026324	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119026324T>A	uc001ldd.1	+	c.1070_splice	c.e11+2	p.R357_splice	SLC18A2_uc009xyy.1_Splice_Site_SNP_p.R154_splice	NM_003054	NP_003045			solute carrier family 18 (vesicular monoamine),						neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)									0.103659	13.87764	39.504431	17	147	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	119026324	119026324	14922	10	T	A	A	A	741	57	SLC18A2	5	3
EIF3A	8661	broad.mit.edu	37	10	120819115	120819115	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:120819115T>A	uc001ldu.2	-	c.1442A>T	c.(1441-1443)CAG>CTG	p.Q481L	EIF3A_uc010qsu.1_Missense_Mutation_p.Q447L	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	481	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)						1050				0.20339	29.866583	34.685485	12	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120819115	120819115	5201	10	T	A	A	A	715	55	EIF3A	3	3
TACC2	10579	broad.mit.edu	37	10	123970023	123970023	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:123970023A>G	uc001lfv.2	+	c.6083A>G	c.(6082-6084)AAG>AGG	p.K2028R	TACC2_uc001lfw.2_Missense_Mutation_p.K174R|TACC2_uc009xzx.2_Missense_Mutation_p.K1983R|TACC2_uc010qtv.1_Missense_Mutation_p.K2032R|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.K106R|TACC2_uc001lga.2_Missense_Mutation_p.K106R|TACC2_uc009xzy.2_Missense_Mutation_p.K106R|TACC2_uc001lgb.2_Missense_Mutation_p.K63R|TACC2_uc010qtw.1_Missense_Mutation_p.K123R	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2028						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)												0.220588	39.394011	44.277121	15	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123970023	123970023	16023	10	A	G	G	G	39	3	TACC2	4	4
C10orf120	399814	broad.mit.edu	37	10	124457686	124457686	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124457686G>T	uc001lgn.2	-	c.571C>A	c.(571-573)CGC>AGC	p.R191S		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	hypothetical protein LOC399814	191										kidney(1)	1		all_neural(114;0.169)|Glioma(114;0.222)												0.070588	-1.405287	14.747739	6	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124457686	124457686	1625	10	G	T	T	T	520	40	C10orf120	1	1
APBB1IP	54518	broad.mit.edu	37	10	26785302	26785302	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26785302G>T	uc001iss.2	+	c.142G>T	c.(142-144)GGG>TGG	p.G48W	APBB1IP_uc001isr.2_Missense_Mutation_p.G48W|APBB1IP_uc009xks.1_Missense_Mutation_p.G48W	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	48					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7										307				0.101449	5.074889	16.009243	7	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26785302	26785302	770	10	G	T	T	T	559	43	APBB1IP	2	2
ZEB1	6935	broad.mit.edu	37	10	31813004	31813004	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31813004G>A	uc001ivu.3	+	c.2748G>A	c.(2746-2748)AAG>AAA	p.K916K	ZEB1_uc001ivr.3_Silent_p.K697K|ZEB1_uc010qee.1_Silent_p.K697K|ZEB1_uc010qef.1_Silent_p.K697K|ZEB1_uc009xlk.1_Silent_p.K697K|ZEB1_uc001ivs.3_Silent_p.K915K|ZEB1_uc001ivt.3_Silent_p.K697K|ZEB1_uc001ivv.3_Silent_p.K895K|ZEB1_uc010qeh.1_Silent_p.K848K|ZEB1_uc009xlp.2_Silent_p.K899K	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	915	C2H2-type 5.				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				Ovarian(40;423 959 14296 36701 49589)								0.091743	5.462137	23.766917	10	99	KEEP	---	---	---	---	capture		Silent	SNP	31813004	31813004	18211	10	G	A	A	A	425	33	ZEB1	2	2
DIP2C	22982	broad.mit.edu	37	10	375378	375378	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:375378G>A	uc001ifp.2	-	c.3748C>T	c.(3748-3750)CTC>TTC	p.L1250F		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1250						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)						1018				0.16	7.682945	10.435691	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	375378	375378	4708	10	G	A	A	A	455	35	DIP2C	2	2
BMS1	9790	broad.mit.edu	37	10	43319113	43319113	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43319113G>T	uc001jaj.2	+	c.3337G>T	c.(3337-3339)GTA>TTA	p.V1113L		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	1113					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)	2														0.121212	18.79983	37.372828	16	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43319113	43319113	1497	10	G	T	T	T	468	36	BMS1	2	2
OR13A1	79290	broad.mit.edu	37	10	45798994	45798994	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:45798994C>A	uc001jcc.1	-	c.877G>T	c.(877-879)GGC>TGC	p.G293C	OR13A1_uc001jcd.1_Missense_Mutation_p.G289C	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	293	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.081081	-0.311257	12.928287	6	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45798994	45798994	11339	10	C	A	A	A	273	21	OR13A1	2	2
PCDH15	65217	broad.mit.edu	37	10	55600137	55600137	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55600137G>T	uc010qhy.1	-	c.3941C>A	c.(3940-3942)ACT>AAT	p.T1314N	PCDH15_uc010qhq.1_Missense_Mutation_p.T1314N|PCDH15_uc010qhr.1_Missense_Mutation_p.T1309N|PCDH15_uc010qhs.1_Missense_Mutation_p.T1321N|PCDH15_uc010qht.1_Missense_Mutation_p.T1316N|PCDH15_uc010qhu.1_Missense_Mutation_p.T1309N|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.T1309N|PCDH15_uc010qhw.1_Missense_Mutation_p.T1272N|PCDH15_uc010qhx.1_Missense_Mutation_p.T1238N|PCDH15_uc010qhz.1_Missense_Mutation_p.T1309N|PCDH15_uc010qia.1_Missense_Mutation_p.T1287N|PCDH15_uc001jju.1_Missense_Mutation_p.T1309N|PCDH15_uc010qib.1_Missense_Mutation_p.T1287N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1309	Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.055556	-7.501821	11.203891	5	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55600137	55600137	11931	10	G	T	T	T	468	36	PCDH15	2	2
IPMK	253430	broad.mit.edu	37	10	59955883	59955884	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:59955883_59955884CC>AA	uc001jkb.2	-	c.1204_1205GG>TT	c.(1204-1206)GGG>TTG	p.G402L		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	402						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			ovary(1)	1														0.05	-11.004577	10.470481	5	95	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	59955883	59955884	8093	10	CC	AA	AA	AA	286	22	IPMK	2	2
RBM17	84991	broad.mit.edu	37	10	6154179	6154179	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:6154179G>T	uc001ijb.2	+	c.711G>T	c.(709-711)ACG>ACT	p.T237T	RBM17_uc010qav.1_Silent_p.T237T|RBM17_uc001ijc.2_5'Flank	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	237	G-patch.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding				0														0.071429	-0.60128	7.339893	3	39	KEEP	---	---	---	---	capture		Silent	SNP	6154179	6154179	13580	10	G	T	T	T	496	39	RBM17	1	1
ANK3	288	broad.mit.edu	37	10	61833198	61833198	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:61833198C>T	uc001jky.2	-	c.7441G>A	c.(7441-7443)GAG>AAG	p.E2481K	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2481					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			ovary(6)|pancreas(2)|central_nervous_system(1)|skin(1)	10														0.054054	-11.028745	12.23793	6	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61833198	61833198	625	10	C	T	T	T	377	29	ANK3	2	2
TET1	80312	broad.mit.edu	37	10	70446363	70446363	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70446363A>G	uc001jok.3	+	c.5303A>G	c.(5302-5304)CAT>CGT	p.H1768R		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1768					DNA demethylation|inner cell mass cell differentiation|oxidation-reduction process|stem cell maintenance	nucleus	iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)	5										280				0.197674	34.413306	41.752724	17	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70446363	70446363	16296	10	A	G	G	G	104	8	TET1	4	4
PRF1	5551	broad.mit.edu	37	10	72357934	72357934	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72357934C>A	uc009xqg.2	-	c.1543G>T	c.(1543-1545)GGC>TGC	p.G515C	PRF1_uc001jrf.3_Missense_Mutation_p.G515C	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	515					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3														0.093333	-0.664726	11.938902	7	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72357934	72357934	12921	10	C	A	A	A	273	21	PRF1	2	2
ADAMTS14	140766	broad.mit.edu	37	10	72520525	72520525	+	Silent	SNP	G	T	T	rs61736608		TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72520525G>T	uc001jrg.2	+	c.3597G>T	c.(3595-3597)ACG>ACT	p.T1199T	ADAMTS14_uc001jrh.2_Silent_p.T1196T	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1196	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)	5														0.12	3.609865	7.149372	3	22	KEEP	---	---	---	---	capture		Silent	SNP	72520525	72520525	260	10	G	T	T	T	483	38	ADAMTS14	1	1
ANKRD22	118932	broad.mit.edu	37	10	90582699	90582699	+	Nonstop_Mutation	SNP	T	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90582699T>G	uc001kfj.3	-	c.575A>C	c.(574-576)TAA>TCA	p.*192S		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	192											0		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)										0.137255	33.74071	53.316044	21	132	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	90582699	90582699	656	10	T	G	G	G	790	61	ANKRD22	5	4
LIPA	3988	broad.mit.edu	37	10	90974763	90974763	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90974763C>G	uc001kgc.3	-	c.1028G>C	c.(1027-1029)AGC>ACC	p.S343T	LIPA_uc001kgb.3_Missense_Mutation_p.S285T|LIPA_uc010qnf.1_Missense_Mutation_p.S146T|LIPA_uc009xtq.2_Missense_Mutation_p.S341T|LIPA_uc001kga.3_Missense_Mutation_p.S341T	NM_001127605	NP_001121077	P38571	LICH_HUMAN	lipase A precursor	341					lipid catabolic process	lysosome	lipase activity|sterol esterase activity				0		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)										0.085714	1.59962	13.775318	6	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90974763	90974763	9146	10	C	G	G	G	364	28	LIPA	3	3
NOC3L	64318	broad.mit.edu	37	10	96122587	96122587	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96122587C>A	uc001kjq.1	-	c.9G>T	c.(7-9)GCG>GCT	p.A3A	NOC3L_uc009xuk.1_5'UTR	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	3						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)										OREG0020385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.147541	15.436998	22.716253	9	52	KEEP	---	---	---	---	capture		Silent	SNP	96122587	96122587	10917	10	C	A	A	A	288	23	NOC3L	1	1
CASP5	838	broad.mit.edu	37	11	104869611	104869611	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:104869611C>T	uc010ruz.1	-	c.1135_splice	c.e7+1	p.H379_splice	CASP5_uc010rva.1_Splice_Site_SNP_p.H366_splice|CASP5_uc010rvb.1_Splice_Site_SNP_p.H308_splice|CASP5_uc010rvc.1_Splice_Site_SNP_p.H224_splice|CASP5_uc009yxh.2_Splice_Site_SNP_p.H148_splice|CASP5_uc010rvd.1_Splice_Site_SNP_p.H148_splice	NM_001136112	NP_001129584			caspase 5 isoform f precursor						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)										0.107759	23.310384	58.707919	25	207	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	104869611	104869611	2793	11	C	T	T	T	247	19	CASP5	5	1
GUCY1A2	2977	broad.mit.edu	37	11	106579321	106579321	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:106579321C>A	uc009yxn.1	-	c.2001G>T	c.(1999-2001)CTG>CTT	p.L667L	GUCY1A2_uc001pjg.1_Silent_p.L636L|GUCY1A2_uc010rvo.1_Silent_p.L657L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	636	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|pancreas(2)|ovary(1)	6		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)						248				0.12766	8.014943	14.370306	6	41	KEEP	---	---	---	---	capture		Silent	SNP	106579321	106579321	7173	11	C	A	A	A	210	17	GUCY1A2	2	2
ARHGAP20	57569	broad.mit.edu	37	11	110451559	110451559	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:110451559G>T	uc001pkz.1	-	c.2111C>A	c.(2110-2112)TCA>TAA	p.S704*	ARHGAP20_uc001pky.1_Nonsense_Mutation_p.S681*|ARHGAP20_uc009yyb.1_Nonsense_Mutation_p.S668*|ARHGAP20_uc001pla.1_Nonsense_Mutation_p.S668*|ARHGAP20_uc001plb.2_Nonsense_Mutation_p.S247*	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	704					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)										0.112676	7.447249	17.967161	8	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	110451559	110451559	881	11	G	T	T	T	585	45	ARHGAP20	5	2
TTC12	54970	broad.mit.edu	37	11	113211455	113211455	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113211455G>T	uc001pnv.2	+	c.914G>T	c.(913-915)AGG>ATG	p.R305M	TTC12_uc001pnu.2_Missense_Mutation_p.R299M|TTC12_uc001pnw.2_Non-coding_Transcript|TTC12_uc001pnx.2_Missense_Mutation_p.R149M	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	299							binding			pancreas(2)|central_nervous_system(1)	3		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)										0.11828	12.952894	26.274834	11	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113211455	113211455	17233	11	G	T	T	T	455	35	TTC12	2	2
CLDN25	644672	broad.mit.edu	37	11	113651172	113651172	+	Missense_Mutation	SNP	C	T	T	rs35111413	byFrequency	TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113651172C>T	uc009yyw.1	+	c.655C>T	c.(655-657)CAC>TAC	p.H219Y		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	claudin 25	219	Cytoplasmic (Potential).					integral to membrane|tight junction	structural molecule activity				0														0.178082	25.09455	32.28202	13	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113651172	113651172	3622	11	C	T	T	T	273	21	CLDN25	2	2
ARCN1	372	broad.mit.edu	37	11	118454055	118454055	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118454055G>T	uc009zag.2	+	c.552G>T	c.(550-552)GTG>GTT	p.V184V	ARCN1_uc009zah.2_Intron|ARCN1_uc001ptq.2_Silent_p.V143V|ARCN1_uc010ryg.1_Silent_p.V55V	NM_001142281	NP_001135753	P48444	COPD_HUMAN	archain isoform 2	143					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)										0.16129	10.756275	14.138605	5	26	KEEP	---	---	---	---	capture		Silent	SNP	118454055	118454055	853	11	G	T	T	T	613	48	ARCN1	2	2
C11orf63	79864	broad.mit.edu	37	11	122805773	122805773	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122805773G>C	uc001pym.2	+	c.1624G>C	c.(1624-1626)GAA>CAA	p.E542Q		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	hypothetical protein LOC79864 isoform 1	542										ovary(3)	3		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)										0.136986	18.89793	28.208927	10	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122805773	122805773	1693	11	G	C	C	C	429	33	C11orf63	3	3
IGSF9B	22997	broad.mit.edu	37	11	133806017	133806017	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:133806017C>T	uc001qgx.3	-	c.752G>A	c.(751-753)CGG>CAG	p.R251Q	IGSF9B_uc001qgy.1_Missense_Mutation_p.R93Q	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	251	Extracellular (Potential).|Ig-like 3.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)										0.166667	19.220022	25.541023	10	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133806017	133806017	7907	11	C	T	T	T	299	23	IGSF9B	1	1
LSP1	4046	broad.mit.edu	37	11	1904651	1904651	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1904651C>A	uc001luj.2	+	c.743C>A	c.(742-744)CCC>CAC	p.P248H	LSP1_uc001lui.2_Missense_Mutation_p.P120H|LSP1_uc001luk.2_Missense_Mutation_p.P58H|LSP1_uc001lul.2_Missense_Mutation_p.P58H|LSP1_uc001lum.2_Missense_Mutation_p.P58H	NM_001013255	NP_001013273	P33241	LSP1_HUMAN	lymphocyte-specific protein 1 isoform 2	120					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			large_intestine(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)						91				0.162162	10.928285	14.94269	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1904651	1904651	9439	11	C	A	A	A	286	22	LSP1	2	2
NAV2	89797	broad.mit.edu	37	11	20066693	20066693	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20066693G>T	uc001mpr.3	+	c.3379G>T	c.(3379-3381)GGT>TGT	p.G1127C	NAV2_uc001mpp.2_Missense_Mutation_p.G1063C|NAV2_uc010rdm.1_Missense_Mutation_p.G1150C|NAV2_uc001mpt.2_Missense_Mutation_p.G213C|NAV2_uc009yhx.2_Missense_Mutation_p.G213C|NAV2_uc009yhy.1_Missense_Mutation_p.G126C	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1150						nucleus	ATP binding|helicase activity			ovary(1)|pancreas(1)	2														0.174242	46.148238	59.364045	23	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20066693	20066693	10580	11	G	T	T	T	611	47	NAV2	2	2
WT1	7490	broad.mit.edu	37	11	32413611	32413611	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32413611C>A	uc001mtn.1	-	c.1340_splice	c.e9-1	p.G447_splice	WT1_uc001mtl.1_Splice_Site_SNP_p.G235_splice|WT1_uc001mtm.1_Splice_Site_SNP_p.G218_splice|WT1_uc001mto.1_Splice_Site_SNP_p.G447_splice|WT1_uc001mtp.1_Splice_Site_SNP_p.G430_splice|WT1_uc001mtq.1_Splice_Site_SNP_p.G430_splice|WT1_uc009yjs.1_Splice_Site_SNP	NM_024426	NP_077744			Wilms tumor 1 isoform D						adrenal gland development|branching involved in ureteric bud morphogenesis|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male gonad development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|positive regulation of gene-specific transcription|sex determination|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|promoter binding|RNA binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription repressor activity|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(302)|soft_tissue(231)|kidney(132)|pleura(2)|peritoneum(1)|lung(1)	669	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)							684				0.157576	45.640224	64.097603	26	139	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	32413611	32413611	17982	11	C	A	A	A	312	24	WT1	5	2
RAG1	5896	broad.mit.edu	37	11	36594898	36594898	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36594898C>T	uc001mwu.3	+	c.44C>T	c.(43-45)CCA>CTA	p.P15L	RAG1_uc001mwt.2_Non-coding_Transcript	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	15	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4	all_lung(20;0.226)	all_hematologic(20;0.107)				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)				117				0.10989	10.183758	23.891836	10	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36594898	36594898	13463	11	C	T	T	T	273	21	RAG1	2	2
NUP98	4928	broad.mit.edu	37	11	3800112	3800112	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:3800112C>A	uc001lyh.2	-	c.346G>T	c.(346-348)GGC>TGC	p.G116C	NUP98_uc001lyi.2_Missense_Mutation_p.G116C|NUP98_uc001lyj.1_Missense_Mutation_p.G116C|NUP98_uc001lyk.1_Missense_Mutation_p.G116C|NUP98_uc010qxv.1_Intron	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	116	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(2)|ovary(1)|kidney(1)|central_nervous_system(1)	9		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)						613				0.158537	23.418373	32.536277	13	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3800112	3800112	11178	11	C	A	A	A	273	21	NUP98	2	2
EXT2	2132	broad.mit.edu	37	11	44257898	44257898	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44257898C>T	uc001mya.2	+	c.2090C>T	c.(2089-2091)TCA>TTA	p.S697L	EXT2_uc010rfo.1_Missense_Mutation_p.S692L|EXT2_uc001mxy.2_Missense_Mutation_p.S677L|EXT2_uc001mxz.2_Missense_Mutation_p.S664L|EXT2_uc009ykt.2_Missense_Mutation_p.S674L	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	664	Lumenal (Potential).				glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity				0										271				0.177215	28.198707	35.955631	14	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44257898	44257898	5518	11	C	T	T	T	377	29	EXT2	2	2
OR4C46	119749	broad.mit.edu	37	11	51515308	51515308	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:51515308G>A	uc010ric.1	+	c.27G>A	c.(25-27)GAG>GAA	p.E9E		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.244681	60.677611	66.260229	23	71	KEEP	---	---	---	---	capture		Silent	SNP	51515308	51515308	11458	11	G	A	A	A	464	36	OR4C46	2	2
OR4C15	81309	broad.mit.edu	37	11	55322796	55322796	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55322796G>T	uc010rig.1	+	c.1014G>T	c.(1012-1014)TTG>TTT	p.L338F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.092486	4.860267	33.807175	16	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55322796	55322796	11454	11	G	T	T	T	581	45	OR4C15	2	2
OR8H2	390151	broad.mit.edu	37	11	55872681	55872681	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55872681C>T	uc010riy.1	+	c.163C>T	c.(163-165)CAG>TAG	p.Q55*		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Esophageal squamous(21;0.00693)													0.082405	6.223923	85.886389	37	412	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55872681	55872681	11649	11	C	T	T	T	273	21	OR8H2	5	2
OR8K3	219473	broad.mit.edu	37	11	56086563	56086563	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56086563C>A	uc010rjf.1	+	c.781C>A	c.(781-783)CCC>ACC	p.P261T		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)													0.075	-1.907052	12.913901	6	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56086563	56086563	11655	11	C	A	A	A	338	26	OR8K3	2	2
OR8J1	219477	broad.mit.edu	37	11	56128382	56128382	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56128382T>A	uc010rjh.1	+	c.660T>A	c.(658-660)AAT>AAA	p.N220K		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.089888	4.735994	19.837354	8	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56128382	56128382	11652	11	T	A	A	A	634	49	OR8J1	3	3
OR5R1	219479	broad.mit.edu	37	11	56185246	56185246	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56185246C>T	uc010rji.1	-	c.463G>A	c.(463-465)GTT>ATT	p.V155I		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.133663	39.108278	65.395121	27	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56185246	56185246	11590	11	C	T	T	T	234	18	OR5R1	2	2
PRG2	5553	broad.mit.edu	37	11	57156661	57156661	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57156661C>A	uc001njz.2	-	c.188G>T	c.(187-189)GGA>GTA	p.G63V	PRG2_uc001njw.1_Non-coding_Transcript|PRG2_uc001njx.1_Non-coding_Transcript|PRG2_uc001njy.1_Non-coding_Transcript|PRG2_uc001nka.2_Missense_Mutation_p.G63V|PRG2_uc001nkb.2_Missense_Mutation_p.G63V|PRG2_uc001nkd.2_Missense_Mutation_p.G63V|PRG2_uc001nkc.2_Missense_Mutation_p.G63V|PRG2_uc001nke.2_Missense_Mutation_p.G343V	NM_002728	NP_002719	P13727	PRG2_HUMAN	proteoglycan 2 preproprotein	63					defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding			central_nervous_system(1)	1				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)	Sargramostim(DB00020)									0.102362	8.624469	28.603739	13	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57156661	57156661	12922	11	C	A	A	A	390	30	PRG2	2	2
OR10Q1	219960	broad.mit.edu	37	11	57995949	57995949	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57995949C>A	uc010rkd.1	-	c.399G>T	c.(397-399)CCG>CCT	p.P133P		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	133	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)												0.158416	26.168623	37.396156	16	85	KEEP	---	---	---	---	capture		Silent	SNP	57995949	57995949	11322	11	C	A	A	A	340	27	OR10Q1	1	1
OR5B3	441608	broad.mit.edu	37	11	58170551	58170551	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58170551T>A	uc010rkf.1	-	c.332A>T	c.(331-333)TAC>TTC	p.Y111F		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.176955	84.774831	108.708659	43	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58170551	58170551	11562	11	T	A	A	A	741	57	OR5B3	3	3
OR52E6	390078	broad.mit.edu	37	11	5862832	5862832	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5862832T>A	uc010qzq.1	-	c.296A>T	c.(295-297)TAC>TTC	p.Y99F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.175234	152.303042	194.848388	75	353	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5862832	5862832	11527	11	T	A	A	A	741	57	OR52E6	3	3
OR4D11	219986	broad.mit.edu	37	11	59271537	59271537	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59271537G>T	uc001noa.1	+	c.489G>T	c.(487-489)TTG>TTT	p.L163F		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	163	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2														0.12931	21.029947	36.477984	15	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59271537	59271537	11462	11	G	T	T	T	594	46	OR4D11	2	2
MS4A6E	245802	broad.mit.edu	37	11	60107400	60107400	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60107400C>G	uc001npd.2	+	c.416C>G	c.(415-417)GCT>GGT	p.A139G		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member	139	Helical; (Potential).					integral to membrane	receptor activity				0														0.072131	-7.203743	50.318622	22	283	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60107400	60107400	10258	11	C	G	G	G	364	28	MS4A6E	3	3
ASRGL1	80150	broad.mit.edu	37	11	62123879	62123879	+	Silent	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62123879A>G	uc001nte.3	+	c.273A>G	c.(271-273)GCA>GCG	p.A91A	ASRGL1_uc001ntf.3_Silent_p.A91A|ASRGL1_uc001ntg.3_Intron|ASRGL1_uc001nth.1_5'Flank	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	asparaginase-like 1	91					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)									0.183673	19.651734	24.248357	9	40	KEEP	---	---	---	---	capture		Silent	SNP	62123879	62123879	1079	11	A	G	G	G	80	7	ASRGL1	4	4
AHNAK	79026	broad.mit.edu	37	11	62295107	62295107	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62295107G>C	uc001ntl.2	-	c.6782C>G	c.(6781-6783)CCA>CGA	p.P2261R	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2261					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.135965	43.503182	72.975483	31	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62295107	62295107	417	11	G	C	C	C	611	47	AHNAK	3	3
FERMT3	83706	broad.mit.edu	37	11	63987463	63987463	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63987463C>A	uc001nyl.2	+	c.1192C>A	c.(1192-1194)CCC>ACC	p.P398T	FERMT3_uc001nym.2_Missense_Mutation_p.P394T	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	398	PH.|FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1														0.214286	12.932605	15.046369	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63987463	63987463	6056	11	C	A	A	A	286	22	FERMT3	2	2
SLC22A11	55867	broad.mit.edu	37	11	64335165	64335165	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64335165G>T	uc001oai.2	+	c.1153G>T	c.(1153-1155)GAC>TAC	p.D385Y	SLC22A11_uc001oaj.2_Missense_Mutation_p.D385Y|SLC22A11_uc009ypq.2_Intron	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	385	Helical; (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)									0.166667	5.022817	6.912369	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64335165	64335165	14938	11	G	T	T	T	533	41	SLC22A11	2	2
NRXN2	9379	broad.mit.edu	37	11	64453143	64453143	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64453143A>G	uc001oar.2	-	c.1127T>C	c.(1126-1128)GTC>GCC	p.V376A	NRXN2_uc001oas.2_Missense_Mutation_p.V352A|NRXN2_uc001oaq.2_Missense_Mutation_p.V50A	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	182	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				ovary(2)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	6														0.193694	98.515764	117.946947	43	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64453143	64453143	11071	11	A	G	G	G	130	10	NRXN2	4	4
HPX	3263	broad.mit.edu	37	11	6458672	6458672	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6458672C>A	uc001mdg.2	-	c.701G>T	c.(700-702)AGA>ATA	p.R234I	HPX_uc001mdf.2_5'UTR|HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	234					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)										0.23	50.669277	57.357543	23	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6458672	6458672	7638	11	C	A	A	A	416	32	HPX	2	2
CATSPER1	117144	broad.mit.edu	37	11	65789107	65789107	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65789107G>T	uc001ogt.2	-	c.1551C>A	c.(1549-1551)TTC>TTA	p.F517L		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	517	Helical; Name=Segment S3; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2														0.272727	7.920542	8.432417	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65789107	65789107	2806	11	G	T	T	T	581	45	CATSPER1	2	2
NDUFV1	4723	broad.mit.edu	37	11	67376993	67376993	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67376993C>T	uc001omj.2	+	c.397C>T	c.(397-399)CAT>TAT	p.H133Y	NDUFV1_uc010rpv.1_Missense_Mutation_p.H32Y|NDUFV1_uc001oml.2_Missense_Mutation_p.H126Y|NDUFV1_uc001omk.3_Missense_Mutation_p.H124Y|NDUFV1_uc009yrz.1_Missense_Mutation_p.H32Y|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	133					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)									0.142857	10.290222	16.315542	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67376993	67376993	10698	11	C	T	T	T	273	21	NDUFV1	2	2
PICALM	8301	broad.mit.edu	37	11	85742606	85742606	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85742606C>G	uc001pbm.2	-	c.178G>C	c.(178-180)GCA>CCA	p.A60P	PICALM_uc001pbl.2_Missense_Mutation_p.A60P|PICALM_uc001pbn.2_Missense_Mutation_p.A60P|PICALM_uc010rtl.1_Missense_Mutation_p.A9P	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	60	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)								415				0.121212	6.875815	11.515992	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85742606	85742606	12304	11	C	G	G	G	338	26	PICALM	3	3
FZD4	8322	broad.mit.edu	37	11	86663040	86663040	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:86663040C>T	uc001pce.2	-	c.758G>A	c.(757-759)CGC>CAC	p.R253H	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	253	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of gene-specific transcription from RNA polymerase II promoter|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm|integral to plasma membrane	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.111111	3.106231	7.142633	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86663040	86663040	6383	11	C	T	T	T	351	27	FZD4	1	1
FOLH1B	219595	broad.mit.edu	37	11	89420596	89420597	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89420596_89420597GG>TT	uc001pda.2	+	c.598_599GG>TT	c.(598-600)GGC>TTC	p.G200F		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	200					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|central_nervous_system(1)	4														0.123457	14.593898	25.826826	10	71	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	89420596	89420597	6222	11	GG	TT	TT	TT	611	47	FOLH1B	2	2
FAT3	120114	broad.mit.edu	37	11	92531048	92531048	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92531048C>A	uc001pdj.3	+	c.4869C>A	c.(4867-4869)ATC>ATA	p.I1623I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1623	Cadherin 15.|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)			0.067039	-12.573073	22.421607	12	167	KEEP	---	---	---	---	capture		Silent	SNP	92531048	92531048	5927	11	C	A	A	A	369	29	FAT3	2	2
CCDC67	159989	broad.mit.edu	37	11	93127784	93127784	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93127784G>C	uc001pdq.2	+	c.1201G>C	c.(1201-1203)GAA>CAA	p.E401Q	CCDC67_uc001pdo.1_Missense_Mutation_p.E401Q|CCDC67_uc001pdp.2_Missense_Mutation_p.E401Q	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	401										ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)												0.25641	58.965654	63.160106	20	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93127784	93127784	2962	11	G	C	C	C	533	41	CCDC67	3	3
GAS2L3	283431	broad.mit.edu	37	12	101005919	101005919	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101005919G>T	uc001thu.2	+	c.445G>T	c.(445-447)GTT>TTT	p.V149F	GAS2L3_uc009zty.2_Missense_Mutation_p.V149F|GAS2L3_uc001thv.2_Missense_Mutation_p.V45F	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	149	CH.				cell cycle arrest						0														0.063636	-8.769606	13.043682	7	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101005919	101005919	6512	12	G	T	T	T	455	35	GAS2L3	2	2
SLC5A8	160728	broad.mit.edu	37	12	101603406	101603406	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101603406G>T	uc001thz.3	-	c.221C>A	c.(220-222)ACC>AAC	p.T74N		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	74	Extracellular (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						GBM(60;420 1056 13605 22380 47675)								0.152542	12.153557	18.968357	9	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101603406	101603406	15168	12	G	T	T	T	572	44	SLC5A8	2	2
EID3	493861	broad.mit.edu	37	12	104698156	104698156	+	Silent	SNP	T	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104698156T>G	uc001tkw.2	+	c.444T>G	c.(442-444)CTT>CTG	p.L148L	TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus					0														0.091429	8.771917	38.203516	16	159	KEEP	---	---	---	---	capture		Silent	SNP	104698156	104698156	5178	12	T	G	G	G	821	64	EID3	4	4
FOXN4	121643	broad.mit.edu	37	12	109719546	109719546	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109719546C>A	uc001toe.3	-	c.960G>T	c.(958-960)CCG>CCT	p.P320P	FOXN4_uc009zvg.2_Silent_p.P117P|FOXN4_uc001tof.3_Silent_p.P140P	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	320					axon extension|embryo development|negative regulation of gene-specific transcription from RNA polymerase II promoter|organ development|pattern specification process|positive regulation of gene-specific transcription|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2														0.285714	10.623202	11.182999	4	10	KEEP	---	---	---	---	capture		Silent	SNP	109719546	109719546	6268	12	C	A	A	A	288	23	FOXN4	1	1
CCDC63	160762	broad.mit.edu	37	12	111317818	111317818	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111317818C>A	uc001trv.1	+	c.598C>A	c.(598-600)CAG>AAG	p.Q200K	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.Q160K|CCDC63_uc001trw.1_Missense_Mutation_p.Q115K	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	200	Potential.									ovary(1)|pancreas(1)	2														0.097087	5.880526	22.636119	10	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111317818	111317818	2957	12	C	A	A	A	273	21	CCDC63	2	2
TAS2R50	259296	broad.mit.edu	37	12	11139452	11139452	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11139452G>C	uc001qzl.2	-	c.8C>G	c.(7-9)ACT>AGT	p.T3S	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	3	Helical; Name=1; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.T3S(1)		ovary(2)	2														0.310345	54.931437	56.788179	18	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11139452	11139452	16106	12	G	C	C	C	468	36	TAS2R50	3	3
RPH3A	22895	broad.mit.edu	37	12	113307697	113307697	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113307697G>T	uc010syl.1	+	c.650_splice	c.e10-1	p.G217_splice	RPH3A_uc001ttz.2_Splice_Site_SNP_p.G217_splice|RPH3A_uc001tty.2_Splice_Site_SNP_p.G213_splice|RPH3A_uc009zwe.1_Splice_Site_SNP_p.G213_splice|RPH3A_uc010sym.1_Splice_Site_SNP_p.G168_splice|RPH3A_uc001tua.2_Splice_Site_SNP	NM_001143854	NP_001137326			rabphilin 3A homolog isoform 1						intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(302;0.00453)										0.256579	94.250172	102.420949	39	113	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	113307697	113307697	14030	12	G	T	T	T	455	35	RPH3A	5	2
TMEM132D	121256	broad.mit.edu	37	12	129559256	129559256	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129559256C>A	uc009zyl.1	-	c.2464G>T	c.(2464-2466)GTC>TTC	p.V822F	TMEM132D_uc001uia.2_Missense_Mutation_p.V360F	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	822	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.213115	64.381694	73.660225	26	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129559256	129559256	16579	12	C	A	A	A	221	17	TMEM132D	2	2
FZD10	11211	broad.mit.edu	37	12	130647912	130647912	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130647912A>T	uc001uii.2	+	c.425A>T	c.(424-426)GAC>GTC	p.D142V		NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	142	FZ.|Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)										0.297872	34.235509	35.950148	14	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130647912	130647912	6380	12	A	T	T	T	130	10	FZD10	3	3
PIWIL1	9271	broad.mit.edu	37	12	130839155	130839155	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130839155G>T	uc001uik.2	+	c.1118G>T	c.(1117-1119)GGG>GTG	p.G373V	PIWIL1_uc001uij.1_Missense_Mutation_p.G373V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	373	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)										0.080645	-3.028528	19.207176	10	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130839155	130839155	12381	12	G	T	T	T	559	43	PIWIL1	2	2
ANKLE2	23141	broad.mit.edu	37	12	133313587	133313587	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133313587C>A	uc001ukx.2	-	c.1485G>T	c.(1483-1485)TGG>TGT	p.W495C	ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Missense_Mutation_p.W433C	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	495						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)										0.296296	19.786258	20.790529	8	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133313587	133313587	636	12	C	A	A	A	234	18	ANKLE2	2	2
GRIN2B	2904	broad.mit.edu	37	12	14018818	14018818	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:14018818C>A	uc001rbt.2	-	c.325G>T	c.(325-327)GCC>TCC	p.A109S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	109	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|lung(2)|skin(1)	10					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					371				0.212903	78.422193	90.132697	33	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14018818	14018818	7059	12	C	A	A	A	351	27	GRIN2B	1	1
LRTM2	654429	broad.mit.edu	37	12	1940101	1940101	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1940101G>A	uc001qjt.2	+	c.68G>A	c.(67-69)TGG>TAG	p.W23*	CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Nonsense_Mutation_p.W23*|LRTM2_uc010sdx.1_Nonsense_Mutation_p.W23*|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	23						integral to membrane				large_intestine(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)											0.4	29.344503	29.563234	10	15	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1940101	1940101	9421	12	G	A	A	A	559	43	LRTM2	5	2
SLCO1B3	28234	broad.mit.edu	37	12	21030768	21030768	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21030768A>T	uc001rek.2	+	c.1033A>T	c.(1033-1035)ACA>TCA	p.T345S	SLCO1B3_uc001rel.2_Missense_Mutation_p.T345S|SLCO1B3_uc010sil.1_Missense_Mutation_p.T345S|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.T170S	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	345	Helical; Name=7; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)	3	Esophageal squamous(101;0.149)													0.25641	50.362856	54.559936	20	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21030768	21030768	15221	12	A	T	T	T	130	10	SLCO1B3	3	3
EFCAB4B	84766	broad.mit.edu	37	12	3806162	3806162	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:3806162C>G	uc010sen.1	-	c.4G>C	c.(4-6)GCT>CCT	p.A2P	EFCAB4B_uc010seo.1_Missense_Mutation_p.A2P|EFCAB4B_uc001qmj.2_Missense_Mutation_p.A2P	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B isoform a	2					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)											0.235294	22.184693	24.361838	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3806162	3806162	5124	12	C	G	G	G	338	26	EFCAB4B	3	3
C12orf40	283461	broad.mit.edu	37	12	40076657	40076657	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40076657G>T	uc001rmc.2	+	c.931G>T	c.(931-933)GAT>TAT	p.D311Y	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	311										ovary(6)	6														0.089286	1.93048	11.471105	5	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40076657	40076657	1730	12	G	T	T	T	429	33	C12orf40	2	2
CNTN1	1272	broad.mit.edu	37	12	41316172	41316172	+	Silent	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41316172T>C	uc001rmm.1	+	c.342T>C	c.(340-342)TGT>TGC	p.C114C	CNTN1_uc009zjy.1_Silent_p.C114C|CNTN1_uc001rmn.1_Silent_p.C103C|CNTN1_uc001rmo.2_Silent_p.C114C	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	114	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.097222	14.244549	37.638779	14	130	KEEP	---	---	---	---	capture		Silent	SNP	41316172	41316172	3778	12	T	C	C	C	777	60	CNTN1	4	4
CNTN1	1272	broad.mit.edu	37	12	41414184	41414184	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41414184C>T	uc001rmm.1	+	c.2465C>T	c.(2464-2466)TCT>TTT	p.S822F	CNTN1_uc001rmn.1_Missense_Mutation_p.S811F	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	822	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.123457	15.290111	26.52573	10	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41414184	41414184	3778	12	C	T	T	T	416	32	CNTN1	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43944788	43944788	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43944788A>T	uc010skx.1	-	c.377T>A	c.(376-378)CTG>CAG	p.L126Q		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	126						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.205882	16.320652	19.03708	7	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43944788	43944788	267	12	A	T	T	T	91	7	ADAMTS20	3	3
NELL2	4753	broad.mit.edu	37	12	45169837	45169837	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45169837A>T	uc010skz.1	-	c.1009T>A	c.(1009-1011)TGG>AGG	p.W337R	NELL2_uc001rof.3_Missense_Mutation_p.W286R|NELL2_uc001rog.2_Missense_Mutation_p.W287R|NELL2_uc001roh.2_Missense_Mutation_p.W287R|NELL2_uc009zkd.2_Missense_Mutation_p.W286R|NELL2_uc010sla.1_Missense_Mutation_p.W310R|NELL2_uc001roi.1_Missense_Mutation_p.W287R|NELL2_uc010slb.1_Missense_Mutation_p.W286R|NELL2_uc001roj.2_Missense_Mutation_p.W287R	NM_001145107	NP_001138579	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform a	287	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			central_nervous_system(1)	1	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)										0.226415	30.377101	34.015796	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45169837	45169837	10733	12	A	T	T	T	91	7	NELL2	3	3
FAIM2	23017	broad.mit.edu	37	12	50281194	50281194	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50281194G>T	uc001rvj.1	-	c.776C>A	c.(775-777)GCA>GAA	p.A259E	FAIM2_uc001rvi.1_Missense_Mutation_p.A213E|FAIM2_uc001rvk.1_Non-coding_Transcript	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	259	Helical; (Potential).				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|ovary(1)	2														0.111111	6.710003	14.784445	6	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50281194	50281194	5573	12	G	T	T	T	598	46	FAIM2	2	2
ANKRD33	341405	broad.mit.edu	37	12	52284917	52284917	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52284917G>C	uc001rzd.2	+	c.1187G>C	c.(1186-1188)AGG>ACG	p.R396T	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzf.3_Intron|ANKRD33_uc001rze.2_Missense_Mutation_p.R292T|ANKRD33_uc001rzg.3_Intron|ANKRD33_uc001rzi.3_Intron	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 2	Error:Variant_position_missing_in_Q7Z3H0_after_alignment											0				BRCA - Breast invasive adenocarcinoma(357;0.0969)										0.25	27.181365	29.906716	12	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52284917	52284917	667	12	G	C	C	C	455	35	ANKRD33	3	3
KRT75	9119	broad.mit.edu	37	12	52822430	52822430	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52822430C>A	uc001saj.2	-	c.1133G>T	c.(1132-1134)AGA>ATA	p.R378I		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	378	Coil 2.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)										0.071429	-2.123372	8.456146	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52822430	52822430	8803	12	C	A	A	A	416	32	KRT75	2	2
KRT72	140807	broad.mit.edu	37	12	52986720	52986720	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52986720T>A	uc001sar.2	-	c.658A>T	c.(658-660)AAC>TAC	p.N220Y	KRT72_uc001saq.2_Missense_Mutation_p.N220Y|KRT72_uc010sns.1_Missense_Mutation_p.N220Y|KRT72_uc010snt.1_Missense_Mutation_p.N32Y	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	220	Coil 1B.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)										0.12931	18.698584	34.341889	15	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52986720	52986720	8800	12	T	A	A	A	793	61	KRT72	3	3
OR6C74	254783	broad.mit.edu	37	12	55641662	55641662	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55641662G>T	uc010spg.1	+	c.591G>T	c.(589-591)ATG>ATT	p.M197I		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	197	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.208333	57.158393	66.576977	25	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55641662	55641662	11608	12	G	T	T	T	598	46	OR6C74	2	2
PRIM1	5557	broad.mit.edu	37	12	57140726	57140726	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57140726C>A	uc001smd.2	-	c.352G>T	c.(352-354)GTG>TTG	p.V118L	PRIM1_uc001sme.1_Non-coding_Transcript|PRIM1_uc009zoz.1_Intron|PRIM1_uc001smf.2_Missense_Mutation_p.V118L	NM_000946	NP_000937	P49642	PRI1_HUMAN	DNA primase polypeptide 1	118					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding				0														0.078947	0.094059	6.97521	3	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57140726	57140726	12933	12	C	A	A	A	221	17	PRIM1	2	2
LRP1	4035	broad.mit.edu	37	12	57552240	57552240	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57552240G>T	uc001snd.2	+	c.1617G>T	c.(1615-1617)CGG>CGT	p.R539R		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	539	Extracellular (Potential).				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.120879	13.544334	26.29568	11	80	KEEP	---	---	---	---	capture		Silent	SNP	57552240	57552240	9324	12	G	T	T	T	548	43	LRP1	2	2
LAG3	3902	broad.mit.edu	37	12	6886480	6886480	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6886480G>C	uc001qqt.3	+	c.1108G>C	c.(1108-1110)GAG>CAG	p.E370Q	LAG3_uc001qqu.2_Missense_Mutation_p.E200Q	NM_002286	NP_002277	P18627	LAG3_HUMAN	lymphocyte-activation protein 3 precursor	370	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane	antigen binding|MHC class II protein binding				0														0.3375	160.533042	164.354666	54	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6886480	6886480	8923	12	G	C	C	C	585	45	LAG3	3	3
CPM	1368	broad.mit.edu	37	12	69263141	69263141	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:69263141C>A	uc001sup.2	-	c.751G>T	c.(751-753)GGT>TGT	p.G251C	CPM_uc001sur.2_Missense_Mutation_p.G251C|CPM_uc001suq.2_Missense_Mutation_p.G251C	NM_198320	NP_938079	P14384	CBPM_HUMAN	carboxypeptidase M precursor	251					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding				0	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)											0.181818	10.928567	14.069558	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69263141	69263141	3946	12	C	A	A	A	273	21	CPM	2	2
PTPRB	5787	broad.mit.edu	37	12	70949044	70949044	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70949044A>T	uc001swc.3	-	c.5039T>A	c.(5038-5040)GTG>GAG	p.V1680E	PTPRB_uc001swb.3_Missense_Mutation_p.V1462E|PTPRB_uc010sto.1_Missense_Mutation_p.V1372E|PTPRB_uc010stp.1_Missense_Mutation_p.V1372E|PTPRB_uc001swa.3_Missense_Mutation_p.V1592E	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1462	Fibronectin type-III 17.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)											0.066116	-8.989016	14.647737	8	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70949044	70949044	13253	12	A	T	T	T	78	6	PTPRB	3	3
LGR5	8549	broad.mit.edu	37	12	71898398	71898398	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71898398C>A	uc001swl.2	+	c.217C>A	c.(217-219)CTC>ATC	p.L73I	LGR5_uc001swm.2_Missense_Mutation_p.L73I|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	73	LRR 1.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.062726	-62.735748	102.460847	52	777	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71898398	71898398	9083	12	C	A	A	A	312	24	LGR5	2	2
LGR5	8549	broad.mit.edu	37	12	71918219	71918219	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71918219C>A	uc001swl.2	+	c.318C>A	c.(316-318)CCC>CCA	p.P106P	LGR5_uc001swm.2_Silent_p.P106P|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	106	LRR 2.|Extracellular (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.316327	88.984248	91.927675	31	67	KEEP	---	---	---	---	capture		Silent	SNP	71918219	71918219	9083	12	C	A	A	A	262	21	LGR5	2	2
ZFC3H1	196441	broad.mit.edu	37	12	72057190	72057190	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72057190G>A	uc001swo.2	-	c.201C>T	c.(199-201)GGC>GGT	p.G67G	ZFC3H1_uc010sts.1_Silent_p.G67G|ZFC3H1_uc001swp.2_Silent_p.G67G|THAP2_uc001swq.2_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	67	Ser-rich.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4												OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.115385	5.637268	13.194483	6	46	KEEP	---	---	---	---	capture		Silent	SNP	72057190	72057190	18221	12	G	A	A	A	483	38	ZFC3H1	1	1
CD163L1	283316	broad.mit.edu	37	12	7556286	7556286	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7556286C>T	uc010sge.1	-	c.1283G>A	c.(1282-1284)GGC>GAC	p.G428D	CD163L1_uc001qsy.2_Missense_Mutation_p.G418D	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	418	SRCR 4.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.214286	67.877349	78.429229	30	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7556286	7556286	3095	12	C	T	T	T	338	26	CD163L1	2	2
CAPS2	84698	broad.mit.edu	37	12	75692736	75692736	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:75692736C>A	uc001sxl.3	-	c.865G>T	c.(865-867)GAT>TAT	p.D289Y	CAPS2_uc001sxm.3_Missense_Mutation_p.D76Y|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxk.3_Missense_Mutation_p.D308Y	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	308							calcium ion binding			ovary(2)	2														0.079365	-0.677162	10.705931	5	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75692736	75692736	2757	12	C	A	A	A	377	29	CAPS2	2	2
NAV3	89795	broad.mit.edu	37	12	78401137	78401137	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78401137C>G	uc001syp.2	+	c.1819C>G	c.(1819-1821)CAG>GAG	p.Q607E	NAV3_uc001syo.2_Missense_Mutation_p.Q607E	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	607						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.261324	210.801037	225.592393	75	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78401137	78401137	10581	12	C	G	G	G	325	25	NAV3	3	3
SLC2A3	6515	broad.mit.edu	37	12	8074159	8074159	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8074159G>T	uc001qtr.2	-	c.1341C>A	c.(1339-1341)TTC>TTA	p.F447L		NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	447	Helical; Name=12; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		Colon(96;424 1461 14416 20933 23688)								0.258065	32.311988	35.65595	16	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8074159	8074159	15042	12	G	T	T	T	425	33	SLC2A3	2	2
ALX1	8092	broad.mit.edu	37	12	85695047	85695047	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85695047G>C	uc001tae.3	+	c.775G>C	c.(775-777)GAT>CAT	p.D259H		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	259					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription corepressor activity	p.D259H(1)		ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)										0.057554	-12.857867	15.924421	8	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85695047	85695047	559	12	G	C	C	C	429	33	ALX1	3	3
LUM	4060	broad.mit.edu	37	12	91498045	91498045	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91498045T>A	uc001tbm.2	-	c.914A>T	c.(913-915)AAG>ATG	p.K305M	LUM_uc001tbn.2_Non-coding_Transcript	NM_002345	NP_002336	P51884	LUM_HUMAN	lumican precursor	305	LRR 11.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)	2														0.10101	8.574108	24.303618	10	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91498045	91498045	9461	12	T	A	A	A	728	56	LUM	3	3
C12orf74	338809	broad.mit.edu	37	12	93100912	93100912	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:93100912C>T	uc001tch.1	+	c.505C>T	c.(505-507)CAG>TAG	p.Q169*	C12orf74_uc001tci.2_Nonsense_Mutation_p.Q169*	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN	hypothetical protein LOC338809	169											0														0.137931	12.159269	19.514385	8	50	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	93100912	93100912	1760	12	C	T	T	T	377	29	C12orf74	5	2
SLC10A2	6555	broad.mit.edu	37	13	103701760	103701760	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103701760G>T	uc001vpy.3	-	c.798C>A	c.(796-798)AAC>AAA	p.N266K		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	266	Extracellular (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)	3	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)													0.128205	22.263673	38.011261	15	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103701760	103701760	14869	13	G	T	T	T	620	48	SLC10A2	2	2
ATP8A2	51761	broad.mit.edu	37	13	26127930	26127930	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:26127930G>T	uc001uqk.2	+	c.1058_splice	c.e12-1	p.D353_splice	ATP8A2_uc010tdi.1_Splice_Site_SNP_p.D313_splice|ATP8A2_uc010tdj.1_Splice_Site_SNP|ATP8A2_uc001uql.1_Splice_Site_SNP_p.D313_splice	NM_016529	NP_057613			ATPase, aminophospholipid transporter-like,						ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.052239	-15.29095	13.122477	7	127	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	26127930	26127930	1212	13	G	T	T	T	429	33	ATP8A2	5	2
SLC7A1	6541	broad.mit.edu	37	13	30091809	30091809	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:30091809C>T	uc001uso.2	-	c.1411G>A	c.(1411-1413)GAG>AAG	p.E471K		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	471	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)									0.121495	11.27403	26.362839	13	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30091809	30091809	15189	13	C	T	T	T	416	32	SLC7A1	2	2
TRPC4	7223	broad.mit.edu	37	13	38320458	38320458	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38320458G>T	uc010abx.2	-	c.513C>A	c.(511-513)CCC>CCA	p.P171P	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Silent_p.P171P|TRPC4_uc001uws.2_Silent_p.P171P|TRPC4_uc010tey.1_Silent_p.P171P|TRPC4_uc010abw.2_Intron|TRPC4_uc010aby.2_Silent_p.P171P	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	171	Cytoplasmic (Potential).|Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|breast(1)	4				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)										0.172414	36.85652	48.519769	20	96	KEEP	---	---	---	---	capture		Silent	SNP	38320458	38320458	17131	13	G	T	T	T	548	43	TRPC4	2	2
RCBTB2	1102	broad.mit.edu	37	13	49075967	49075967	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:49075967C>A	uc010tgg.1	-	c.1170G>T	c.(1168-1170)AAG>AAT	p.K390N	RCBTB2_uc001vch.2_Missense_Mutation_p.K385N|RCBTB2_uc001vci.2_Missense_Mutation_p.K361N|RCBTB2_uc010tgh.1_Missense_Mutation_p.K111N|RCBTB2_uc001vcj.2_Missense_Mutation_p.K337N|RCBTB2_uc010acv.1_Non-coding_Transcript	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	385							Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)	4		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)						264				0.225	17.748986	20.533665	9	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49075967	49075967	13641	13	C	A	A	A	415	32	RCBTB2	2	2
PCDH17	27253	broad.mit.edu	37	13	58208384	58208384	+	Silent	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58208384G>C	uc001vhq.1	+	c.1704G>C	c.(1702-1704)ACG>ACC	p.T568T	PCDH17_uc010aec.1_Silent_p.T568T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	568	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)|pancreas(2)	4		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.097561	-0.230003	6.43113	4	37	KEEP	---	---	---	---	capture		Silent	SNP	58208384	58208384	11932	13	G	C	C	C	496	39	PCDH17	3	3
MYCBP2	23077	broad.mit.edu	37	13	77671766	77671766	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:77671766T>C	uc001vkf.2	-	c.9409A>G	c.(9409-9411)ATC>GTC	p.I3137V	MYCBP2_uc010aev.2_Missense_Mutation_p.I2541V|MYCBP2_uc001vkg.1_Missense_Mutation_p.I660V|MYCBP2_uc010aew.2_Missense_Mutation_p.I523V	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3137					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)										0.15	21.249588	30.655732	12	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77671766	77671766	10413	13	T	C	C	C	637	49	MYCBP2	4	4
MYCBP2	23077	broad.mit.edu	37	13	77714190	77714190	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:77714190T>A	uc001vkf.2	-	c.7396A>T	c.(7396-7398)ATT>TTT	p.I2466F	MYCBP2_uc010aev.2_Missense_Mutation_p.I1870F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2466					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)										0.068182	-1.109701	7.37654	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77714190	77714190	10413	13	T	A	A	A	637	49	MYCBP2	3	3
OR4K15	81127	broad.mit.edu	37	14	20443997	20443997	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20443997C>T	uc010tkx.1	+	c.320C>T	c.(319-321)GCA>GTA	p.A107V		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	107	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.167702	50.845126	67.67429	27	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20443997	20443997	11480	14	C	T	T	T	325	25	OR4K15	2	2
OR4K14	122740	broad.mit.edu	37	14	20483242	20483242	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20483242G>A	uc010tky.1	-	c.111C>T	c.(109-111)GCC>GCT	p.A37A		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)										0.142857	7.88082	11.322096	4	24	KEEP	---	---	---	---	capture		Silent	SNP	20483242	20483242	11479	14	G	A	A	A	600	47	OR4K14	2	2
MYH6	4624	broad.mit.edu	37	14	23862642	23862642	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23862642T>A	uc001wjv.2	-	c.3014A>T	c.(3013-3015)CAT>CTT	p.H1005L		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1005	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.073171	-1.10844	21.917605	9	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23862642	23862642	10433	14	T	A	A	A	663	51	MYH6	3	3
DHRS2	10202	broad.mit.edu	37	14	24113676	24113676	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24113676C>A	uc001wkt.3	+	c.599C>A	c.(598-600)GCA>GAA	p.A200E	DHRS2_uc001wku.3_Missense_Mutation_p.A200E|DHRS2_uc010akv.2_Non-coding_Transcript|DHRS2_uc001wkv.3_Missense_Mutation_p.A200E	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	178					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|oxidation-reduction process|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)										0.166667	13.496553	17.922914	7	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24113676	24113676	4669	14	C	A	A	A	325	25	DHRS2	2	2
PRKD1	5587	broad.mit.edu	37	14	30066734	30066734	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30066734C>A	uc001wqh.2	-	c.2397G>T	c.(2395-2397)ATG>ATT	p.M799I		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	799	Protein kinase.				cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)						428				0.083333	2.935232	19.862978	8	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30066734	30066734	12961	14	C	A	A	A	221	17	PRKD1	2	2
PRKD1	5587	broad.mit.edu	37	14	30100229	30100229	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30100229T>A	uc001wqh.2	-	c.1393_splice	c.e10-1	p.E465_splice		NM_002742	NP_002733			protein kinase D1						cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)						428				0.163636	19.142113	25.051326	9	46	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	30100229	30100229	12961	14	T	A	A	A	715	55	PRKD1	5	3
PRKD1	5587	broad.mit.edu	37	14	30108069	30108069	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30108069C>A	uc001wqh.2	-	c.738G>T	c.(736-738)AGG>AGT	p.R246S		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	246					cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)						428				0.089286	1.932553	11.471549	5	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30108069	30108069	12961	14	C	A	A	A	233	18	PRKD1	2	2
FSCB	84075	broad.mit.edu	37	14	44975465	44975465	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44975465A>T	uc001wvn.2	-	c.726T>A	c.(724-726)GTT>GTA	p.V242V		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	242						cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.141026	17.879954	27.572346	11	67	KEEP	---	---	---	---	capture		Silent	SNP	44975465	44975465	6316	14	A	T	T	T	54	5	FSCB	3	3
MDGA2	161357	broad.mit.edu	37	14	47351301	47351301	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47351301G>C	uc001wwj.3	-	c.2155C>G	c.(2155-2157)CCT>GCT	p.P719A	MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.P490A|MDGA2_uc010ani.2_Missense_Mutation_p.P279A	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	719					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.103448	3.502564	8.043432	3	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47351301	47351301	9796	14	G	C	C	C	533	41	MDGA2	3	3
C14orf39	317761	broad.mit.edu	37	14	60903701	60903701	+	Silent	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:60903701T>A	uc001xez.3	-	c.1626A>T	c.(1624-1626)TCA>TCT	p.S542S	C14orf39_uc010apo.2_Silent_p.S253S	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	hypothetical protein LOC317761	542										ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;0.0448)										0.097744	8.490004	30.066393	13	120	KEEP	---	---	---	---	capture		Silent	SNP	60903701	60903701	1822	14	T	A	A	A	808	63	C14orf39	3	3
SLC8A3	6547	broad.mit.edu	37	14	70634343	70634343	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70634343C>T	uc001xly.2	-	c.797G>A	c.(796-798)CGC>CAC	p.R266H	SLC8A3_uc001xlw.2_Missense_Mutation_p.R266H|SLC8A3_uc001xlx.2_Missense_Mutation_p.R266H|SLC8A3_uc001xlz.2_Missense_Mutation_p.R266H|SLC8A3_uc010ara.2_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	266	Calmodulin-binding (By similarity).|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			ovary(2)|breast(2)	4				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)										0.202703	32.89446	38.961932	15	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70634343	70634343	15205	14	C	T	T	T	351	27	SLC8A3	1	1
SLC8A3	6547	broad.mit.edu	37	14	70634379	70634379	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70634379C>A	uc001xly.2	-	c.761G>T	c.(760-762)CGA>CTA	p.R254L	SLC8A3_uc001xlw.2_Missense_Mutation_p.R254L|SLC8A3_uc001xlx.2_Missense_Mutation_p.R254L|SLC8A3_uc001xlz.2_Missense_Mutation_p.R254L|SLC8A3_uc010ara.2_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	254	Calmodulin-binding (By similarity).|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			ovary(2)|breast(2)	4				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)										0.2	31.217096	37.071383	14	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70634379	70634379	15205	14	C	A	A	A	403	31	SLC8A3	1	1
MLH3	27030	broad.mit.edu	37	14	75515020	75515020	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75515020C>A	uc001xrd.1	-	c.1339G>T	c.(1339-1341)GGT>TGT	p.G447C	MLH3_uc001xre.1_Missense_Mutation_p.G447C|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	447					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)										0.163934	19.808955	26.354085	10	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75515020	75515020	10008	14	C	A	A	A	273	21	MLH3	2	2
STON2	85439	broad.mit.edu	37	14	81743441	81743441	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81743441C>A	uc001xvk.1	-	c.2214G>T	c.(2212-2214)TGG>TGT	p.W738C	STON2_uc010tvu.1_Missense_Mutation_p.W738C|STON2_uc010tvt.1_Missense_Mutation_p.W535C	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	738	MHD.			W->A: Reduces interaction with SYT1.	endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0348)										0.138614	21.290219	34.034614	14	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81743441	81743441	15838	14	C	A	A	A	286	22	STON2	2	2
STON2	85439	broad.mit.edu	37	14	81837478	81837478	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81837478C>A	uc001xvk.1	-	c.425G>T	c.(424-426)GGG>GTG	p.G142V	STON2_uc010tvu.1_Missense_Mutation_p.G142V	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	142					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0348)										0.0625	-8.561367	13.78643	7	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81837478	81837478	15838	14	C	A	A	A	286	22	STON2	2	2
FBLN5	10516	broad.mit.edu	37	14	92336728	92336728	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:92336728T>A	uc010aue.2	-	c.1310A>T	c.(1309-1311)CAA>CTA	p.Q437L	TC2N_uc001xzv.3_5'Flank|FBLN5_uc010aud.2_Missense_Mutation_p.Q401L|FBLN5_uc001xzx.3_Missense_Mutation_p.Q396L|FBLN5_uc001xzw.2_Non-coding_Transcript	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	396					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|lung(1)|skin(1)	5		all_cancers(154;0.0722)								478				0.079646	2.186293	22.559925	9	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92336728	92336728	5936	14	T	A	A	A	819	63	FBLN5	3	3
FAM181A	90050	broad.mit.edu	37	14	94394779	94394779	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94394779C>A	uc001ybz.1	+	c.334C>A	c.(334-336)CAG>AAG	p.Q112K	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.Q50K|FAM181A_uc001yca.1_Missense_Mutation_p.Q50K	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	112											0														0.115385	3.606633	7.394461	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94394779	94394779	5715	14	C	A	A	A	273	21	FAM181A	2	2
C14orf49	161176	broad.mit.edu	37	14	95921873	95921873	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95921873C>A	uc001yei.3	-	c.978G>T	c.(976-978)CTG>CTT	p.L326L	C14orf49_uc010avi.2_Silent_p.L326L|C14orf49_uc001yej.1_Silent_p.L326L	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	326	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)										0.121212	2.979782	7.621928	4	29	KEEP	---	---	---	---	capture		Silent	SNP	95921873	95921873	1826	14	C	A	A	A	314	25	C14orf49	2	2
OR4M2	390538	broad.mit.edu	37	15	22369514	22369514	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22369514G>T	uc010tzu.1	+	c.939G>T	c.(937-939)AAG>AAT	p.K313N	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	313	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)										0.078431	0.358876	9.621773	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22369514	22369514	11486	15	G	T	T	T	464	36	OR4M2	2	2
OR4N4	283694	broad.mit.edu	37	15	22382673	22382673	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22382673C>A	uc001yuc.1	+	c.201C>A	c.(199-201)GCC>GCA	p.A67A	LOC727924_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.1_Silent_p.A67A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)										0.032727	-48.274533	17.307705	9	266	KEEP	---	---	---	---	capture		Silent	SNP	22382673	22382673	11488	15	C	A	A	A	301	24	OR4N4	2	2
C15orf2	23742	broad.mit.edu	37	15	24921530	24921530	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24921530G>A	uc001ywo.2	+	c.516G>A	c.(514-516)GAG>GAA	p.E172E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	172					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.211268	37.986187	43.459016	15	56	KEEP	---	---	---	---	capture		Silent	SNP	24921530	24921530	1834	15	G	A	A	A	451	35	C15orf2	2	2
SNRPN	6638	broad.mit.edu	37	15	25222149	25222149	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:25222149C>A	uc001ywv.1	+	c.402C>A	c.(400-402)GTC>GTA	p.V134V	SNRPN_uc001ywp.1_Silent_p.V131V|SNRPN_uc001ywq.1_Silent_p.V131V|SNRPN_uc001ywr.1_Silent_p.V131V|SNRPN_uc001yws.1_Silent_p.V131V|SNRPN_uc001ywt.1_Silent_p.V131V|SNRPN_uc001yww.1_Silent_p.V131V|SNRPN_uc001ywx.1_Silent_p.V131V|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022808	NP_073719	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	131					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										0.147059	7.926294	11.935134	5	29	KEEP	---	---	---	---	capture		Silent	SNP	25222149	25222149	15370	15	C	A	A	A	379	30	SNRPN	2	2
GABRB3	2562	broad.mit.edu	37	15	26825499	26825499	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:26825499G>C	uc001zbb.2	-	c.817C>G	c.(817-819)CGT>GGT	p.R273G	GABRB3_uc010uae.1_Missense_Mutation_p.R132G|GABRB3_uc001zaz.2_Missense_Mutation_p.R217G|GABRB3_uc001zba.2_Missense_Mutation_p.R217G	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	217	Extracellular (Probable).		R -> H (in insomnia; functional analysis reveals a slower rate of the fast phase of desensitization compared with alpha1beta3gamma2S GABA(A) receptors; current deactivation is faster in the mutated receptors).		synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	4		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.211921	70.137971	81.715236	32	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26825499	26825499	6419	15	G	C	C	C	507	39	GABRB3	3	3
GABRG3	2567	broad.mit.edu	37	15	27572006	27572006	+	Silent	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27572006T>A	uc001zbg.1	+	c.321T>A	c.(319-321)CTT>CTA	p.L107L	GABRG3_uc001zbf.2_Silent_p.L107L	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	107	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		NSCLC(114;800 1656 7410 37729 45293)								0.184932	51.537069	65.1323	27	119	KEEP	---	---	---	---	capture		Silent	SNP	27572006	27572006	6424	15	T	A	A	A	795	62	GABRG3	3	3
HERC2	8924	broad.mit.edu	37	15	28501352	28501352	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28501352C>T	uc001zbj.2	-	c.2629G>A	c.(2629-2631)GGC>AGC	p.G877S	HERC2_uc001zbl.1_Missense_Mutation_p.G572S	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	877					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.194444	15.038024	18.14858	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28501352	28501352	7341	15	C	T	T	T	286	22	HERC2	2	2
TJP1	7082	broad.mit.edu	37	15	30020222	30020222	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:30020222C>T	uc010azl.2	-	c.1983G>A	c.(1981-1983)AAG>AAA	p.K661K	TJP1_uc001zcq.2_Silent_p.K677K|TJP1_uc001zcr.2_Silent_p.K673K|TJP1_uc001zcs.2_Silent_p.K673K	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	673	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|pancreas(1)	5		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		Melanoma(77;681 1843 6309 6570)								0.157895	11.425332	15.666519	6	32	KEEP	---	---	---	---	capture		Silent	SNP	30020222	30020222	16458	15	C	T	T	T	415	32	TJP1	2	2
MTMR15	22909	broad.mit.edu	37	15	31197225	31197225	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31197225A>G	uc001zff.2	+	c.359A>G	c.(358-360)GAA>GGA	p.E120G	MTMR15_uc001zfc.3_Missense_Mutation_p.E120G|MTMR15_uc010azw.2_Missense_Mutation_p.E120G|MTMR15_uc001zfd.3_Missense_Mutation_p.E120G|MTMR15_uc001zfe.2_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	120					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)										0.25	15.93879	17.302045	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31197225	31197225	10336	15	A	G	G	G	117	9	MTMR15	4	4
FMN1	342184	broad.mit.edu	37	15	33359067	33359067	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33359067G>T	uc001zhf.3	-	c.1019C>A	c.(1018-1020)ACT>AAT	p.T340N	FMN1_uc001zhg.2_Missense_Mutation_p.T340N	NM_001103184	NP_001096654	C9JFW6	C9JFW6_HUMAN	formin 1	436										ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)										0.154639	30.309437	41.326219	15	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33359067	33359067	6191	15	G	T	T	T	468	36	FMN1	2	2
RYR3	6263	broad.mit.edu	37	15	33936549	33936549	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33936549C>T	uc001zhi.2	+	c.3594C>T	c.(3592-3594)ATC>ATT	p.I1198I	RYR3_uc010bar.2_Silent_p.I1198I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1198	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.090909	1.203937	6.76804	3	30	KEEP	---	---	---	---	capture		Silent	SNP	33936549	33936549	14250	15	C	T	T	T	395	31	RYR3	1	1
C15orf29	79768	broad.mit.edu	37	15	34439591	34439591	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34439591G>T	uc001zhp.2	-	c.598C>A	c.(598-600)CTC>ATC	p.L200I	C15orf29_uc010ubz.1_Missense_Mutation_p.L104I	NM_024713	NP_078989	Q9H079	CO029_HUMAN	hypothetical protein LOC79768	200						nucleolus				ovary(1)	1		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)										0.210526	7.888646	9.362664	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34439591	34439591	1839	15	G	T	T	T	442	34	C15orf29	2	2
C15orf55	256646	broad.mit.edu	37	15	34647928	34647928	+	Silent	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34647928T>C	uc010ucc.1	+	c.1719T>C	c.(1717-1719)GAT>GAC	p.D573D	C15orf55_uc010ucd.1_Silent_p.D563D|C15orf55_uc001zif.2_Silent_p.D545D	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	545						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)						408				0.140187	28.165055	41.528687	15	92	KEEP	---	---	---	---	capture		Silent	SNP	34647928	34647928	1853	15	T	C	C	C	634	49	C15orf55	4	4
PLCB2	5330	broad.mit.edu	37	15	40590490	40590490	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40590490C>A	uc001zld.2	-	c.1089G>T	c.(1087-1089)GGG>GGT	p.G363G	PLCB2_uc010bbo.2_Silent_p.G363G|PLCB2_uc010ucm.1_Silent_p.G363G	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	363	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)						1073				0.121951	3.438425	9.201643	5	36	KEEP	---	---	---	---	capture		Silent	SNP	40590490	40590490	12454	15	C	A	A	A	379	30	PLCB2	2	2
TP53BP1	7158	broad.mit.edu	37	15	43712550	43712550	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43712550A>T	uc001zrr.3	-	c.4634T>A	c.(4633-4635)CTG>CAG	p.L1545Q	TP53BP1_uc010udp.1_Missense_Mutation_p.L1540Q|TP53BP1_uc001zrq.3_Missense_Mutation_p.L1545Q|TP53BP1_uc001zrs.2_Missense_Mutation_p.L1540Q|TP53BP1_uc010udq.1_Missense_Mutation_p.L1545Q	NM_001141980	NP_001135452	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 1	1540					double-strand break repair via homologous recombination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore|cytoplasm|nucleoplasm	protein binding|transcription activator activity			ovary(2)|large_intestine(1)|pancreas(1)|kidney(1)|skin(1)	6		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)						421				0.156627	155.450129	211.465976	78	420	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43712550	43712550	16925	15	A	T	T	T	91	7	TP53BP1	3	3
MAP1A	4130	broad.mit.edu	37	15	43814040	43814040	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43814040G>A	uc001zrt.2	+	c.369G>A	c.(367-369)TGG>TGA	p.W123*		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	123						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)	8		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)									0.162162	11.531578	15.543746	6	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43814040	43814040	9610	15	G	A	A	A	559	43	MAP1A	5	2
SPG11	80208	broad.mit.edu	37	15	44903124	44903124	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:44903124G>A	uc001ztx.2	-	c.3205C>T	c.(3205-3207)CAG>TAG	p.Q1069*	SPG11_uc010ueh.1_Nonsense_Mutation_p.Q1069*|SPG11_uc010uei.1_Nonsense_Mutation_p.Q1069*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1069	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)	4		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)										0.153846	10.222732	14.693444	6	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	44903124	44903124	15553	15	G	A	A	A	585	45	SPG11	5	2
C15orf43	145645	broad.mit.edu	37	15	45266120	45266120	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45266120C>A	uc001zuk.2	+	c.490C>A	c.(490-492)CTA>ATA	p.L164I		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	hypothetical protein LOC145645	164											0		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)										0.076923	-0.6438	8.887102	4	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45266120	45266120	1847	15	C	A	A	A	415	32	C15orf43	2	2
SEMA6D	80031	broad.mit.edu	37	15	48056265	48056265	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48056265G>T	uc010bek.2	+	c.965_splice	c.e10+1	p.S322_splice	SEMA6D_uc001zvw.2_Splice_Site_SNP_p.S322_splice|SEMA6D_uc001zvx.1_Splice_Site_SNP_p.S322_splice|SEMA6D_uc001zvy.2_Splice_Site_SNP_p.S322_splice|SEMA6D_uc001zvz.2_Splice_Site_SNP_p.S322_splice|SEMA6D_uc001zwa.2_Splice_Site_SNP_p.S322_splice|SEMA6D_uc001zwb.2_Splice_Site_SNP_p.S322_splice|SEMA6D_uc001zwc.2_Splice_Site_SNP_p.S322_splice	NM_153618	NP_705871			semaphorin 6D isoform 4 precursor						axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			breast(1)	1		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)										0.2	78.097097	93.167676	36	144	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	48056265	48056265	14528	15	G	T	T	T	572	44	SEMA6D	5	2
MYO5A	4644	broad.mit.edu	37	15	52656830	52656830	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52656830C>T	uc002aby.2	-	c.3230G>A	c.(3229-3231)AGA>AAA	p.R1077K	MYO5A_uc002abx.3_Missense_Mutation_p.R1077K	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	1077	Potential.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)										0.121693	33.284331	59.789283	23	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52656830	52656830	10473	15	C	T	T	T	416	32	MYO5A	2	2
RORA	6095	broad.mit.edu	37	15	60803809	60803809	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:60803809C>A	uc002agv.2	-	c.535G>T	c.(535-537)GGC>TGC	p.G179C	RORA_uc002agt.3_Missense_Mutation_p.G91C|RORA_uc002agw.2_Missense_Mutation_p.G171C|RORA_uc002agx.2_Missense_Mutation_p.G146C	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	179	Hinge.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.066667	-3.180287	11.411894	5	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60803809	60803809	14007	15	C	A	A	A	273	21	RORA	2	2
CLPX	10845	broad.mit.edu	37	15	65450169	65450169	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65450169C>A	uc002aom.2	-	c.972G>T	c.(970-972)CAG>CAT	p.Q324H	CLPX_uc010uiu.1_Non-coding_Transcript|CLPX_uc010bhg.1_Missense_Mutation_p.Q324H	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	324					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0														0.14	10.890564	17.149568	7	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65450169	65450169	3694	15	C	A	A	A	311	24	CLPX	2	2
IGDCC3	9543	broad.mit.edu	37	15	65622070	65622070	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65622070C>A	uc002aos.2	-	c.1991G>T	c.(1990-1992)AGG>ATG	p.R664M	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	664	Cytoplasmic (Potential).									ovary(3)	3														0.227273	12.062804	13.5652	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65622070	65622070	7869	15	C	A	A	A	312	24	IGDCC3	2	2
LCTL	197021	broad.mit.edu	37	15	66850083	66850083	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:66850083G>T	uc002aqc.2	-	c.899C>A	c.(898-900)CCC>CAC	p.P300H	LCTL_uc002aqd.3_Missense_Mutation_p.P127H|LCTL_uc010bhw.2_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	300	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2														0.158333	31.471815	44.808917	19	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66850083	66850083	9018	15	G	T	T	T	559	43	LCTL	2	2
ITGA11	22801	broad.mit.edu	37	15	68607988	68607988	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:68607988C>A	uc010bib.2	-	c.2792_splice	c.e22+1	p.S931_splice	ITGA11_uc002ari.2_Splice_Site_SNP_p.S931_splice	NM_001004439	NP_001004439			integrin, alpha 11 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)									0.148148	6.682085	9.891785	4	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	68607988	68607988	8178	15	C	A	A	A	234	18	ITGA11	5	2
SPESP1	246777	broad.mit.edu	37	15	69238076	69238076	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:69238076C>G	uc002arn.1	+	c.203C>G	c.(202-204)GCA>GGA	p.A68G	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	68					multicellular organismal development	acrosomal vesicle					0														0.147059	37.105605	53.385657	20	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69238076	69238076	15552	15	C	G	G	G	325	25	SPESP1	3	3
UACA	55075	broad.mit.edu	37	15	70980140	70980140	+	Silent	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:70980140A>G	uc002asr.2	-	c.444T>C	c.(442-444)TCT>TCC	p.S148S	UACA_uc010uke.1_Silent_p.S148S|UACA_uc002asq.2_Silent_p.S135S|UACA_uc010bin.1_Silent_p.S134S	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	148	ANK 4.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)	3														0.132353	17.327472	26.253463	9	59	KEEP	---	---	---	---	capture		Silent	SNP	70980140	70980140	17381	15	A	G	G	G	184	15	UACA	4	4
UACA	55075	broad.mit.edu	37	15	70991968	70991968	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:70991968C>A	uc002asr.2	-	c.110G>T	c.(109-111)CGA>CTA	p.R37L	UACA_uc010uke.1_Missense_Mutation_p.R37L|UACA_uc002asq.2_Missense_Mutation_p.R24L|UACA_uc010bin.1_Missense_Mutation_p.R23L	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	37						cytoskeleton|extracellular region				ovary(2)|pancreas(1)	3														0.116788	18.51379	38.299312	16	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70991968	70991968	17381	15	C	A	A	A	403	31	UACA	1	1
C15orf59	388135	broad.mit.edu	37	15	74032479	74032479	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74032479G>T	uc002avy.2	-	c.661C>A	c.(661-663)CCT>ACT	p.P221T		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	221										pancreas(1)	1														0.178571	9.457535	12.1812	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74032479	74032479	1857	15	G	T	T	T	546	42	C15orf59	2	2
KIAA1199	57214	broad.mit.edu	37	15	81229225	81229225	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81229225A>T	uc002bfw.1	+	c.3220A>T	c.(3220-3222)AAG>TAG	p.K1074*	KIAA1199_uc010unn.1_Nonsense_Mutation_p.K1074*	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1074										ovary(1)	1														0.126761	10.832159	20.478667	9	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	81229225	81229225	8521	15	A	T	T	T	65	5	KIAA1199	5	3
CPEB1	64506	broad.mit.edu	37	15	83221258	83221258	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83221258A>T	uc002bit.2	-	c.1367T>A	c.(1366-1368)ATG>AAG	p.M456K	CPEB1_uc002biq.2_Missense_Mutation_p.M316K|CPEB1_uc002bir.2_Missense_Mutation_p.M321K|CPEB1_uc002bis.2_Missense_Mutation_p.M316K|CPEB1_uc010uod.1_Missense_Mutation_p.M165K|CPEB1_uc010uoe.1_Missense_Mutation_p.M394K|CPEB1_uc002biu.2_Missense_Mutation_p.M418K|CPEB1_uc010uof.1_Missense_Mutation_p.M316K|CPEB1_uc002biv.2_Missense_Mutation_p.M391K|CPEB1_uc002bip.2_Missense_Mutation_p.M165K	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	396	RRM 1.|Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)											0.106061	11.160014	31.508299	14	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83221258	83221258	3938	15	A	T	T	T	104	8	CPEB1	3	3
AKAP13	11214	broad.mit.edu	37	15	86077002	86077002	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:86077002A>T	uc002blu.1	+	c.369A>T	c.(367-369)GGA>GGT	p.G123G	AKAP13_uc002bls.2_Silent_p.G123G|AKAP13_uc002blt.1_Silent_p.G123G|AKAP13_uc002blv.1_Silent_p.G123G	NM_006738	NP_006729	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 1	123					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|ovary(1)|liver(1)	8						Melanoma(94;603 1453 3280 32295 32951)								0.132075	18.178745	32.120231	14	92	KEEP	---	---	---	---	capture		Silent	SNP	86077002	86077002	452	15	A	T	T	T	119	10	AKAP13	3	3
NOMO1	23420	broad.mit.edu	37	16	14970272	14970272	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14970272G>A	uc002dcv.2	+	c.2413G>A	c.(2413-2415)GGC>AGC	p.G805S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	805	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1														0.170213	53.220366	67.719627	24	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14970272	14970272	10934	16	G	A	A	A	455	35	NOMO1	2	2
PDILT	204474	broad.mit.edu	37	16	20410574	20410574	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20410574C>A	uc002dhc.1	-	c.49G>T	c.(49-51)GCT>TCT	p.A17S		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	17					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1														0.056075	-9.634187	12.531256	6	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20410574	20410574	12095	16	C	A	A	A	325	25	PDILT	2	2
ACSM2A	123876	broad.mit.edu	37	16	20476975	20476975	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20476975G>T	uc010bwe.2	+	c.314G>T	c.(313-315)CGT>CTT	p.R105L	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.R26L|ACSM2A_uc002dhf.3_Missense_Mutation_p.R105L|ACSM2A_uc002dhg.3_Missense_Mutation_p.R105L|ACSM2A_uc010vay.1_Missense_Mutation_p.R26L	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	105					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)	1														0.153846	13.271112	19.234737	8	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20476975	20476975	184	16	G	T	T	T	520	40	ACSM2A	1	1
ACSM1	116285	broad.mit.edu	37	16	20648101	20648101	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20648101A>T	uc002dhm.1	-	c.1259T>A	c.(1258-1260)ATC>AAC	p.I420N	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Missense_Mutation_p.I420N	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	420					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)	1														0.153226	33.85139	48.118058	19	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20648101	20648101	183	16	A	T	T	T	156	12	ACSM1	3	3
APOB48R	55911	broad.mit.edu	37	16	28507877	28507877	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28507877G>T	uc002dqb.1	+	c.1488G>T	c.(1486-1488)GTG>GTT	p.V496V	APOB48R_uc010byg.1_Silent_p.V34V	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	496	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0														0.2	8.687662	10.362798	4	16	KEEP	---	---	---	---	capture		Silent	SNP	28507877	28507877	797	16	G	T	T	T	600	47	APOB48R	2	2
TBX6	6911	broad.mit.edu	37	16	30097621	30097621	+	Silent	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30097621G>C	uc010veh.1	-	c.1236C>G	c.(1234-1236)CTC>CTG	p.L412L	BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	412					anatomical structure morphogenesis|mesoderm development|multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2														0.12	5.108246	8.648264	3	22	KEEP	---	---	---	---	capture		Silent	SNP	30097621	30097621	16188	16	G	C	C	C	522	41	TBX6	3	3
ZNF48	197407	broad.mit.edu	37	16	30409122	30409122	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30409122G>A	uc002dya.1	+	c.551G>A	c.(550-552)CGG>CAG	p.R184Q	ZNF48_uc002dxz.1_Missense_Mutation_p.R61Q	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.115385	3.00483	6.798032	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30409122	30409122	18528	16	G	A	A	A	507	39	ZNF48	1	1
ITGAM	3684	broad.mit.edu	37	16	31284733	31284733	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31284733A>T	uc002ebr.2	+	c.752A>T	c.(751-753)AAG>ATG	p.K251M	ITGAM_uc002ebq.2_Missense_Mutation_p.K251M|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	integrin alpha M isoform 1 precursor	251	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.100775	10.575918	31.101375	13	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31284733	31284733	8191	16	A	T	T	T	39	3	ITGAM	3	3
ITGAD	3681	broad.mit.edu	37	16	31425863	31425863	+	Silent	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31425863T>A	uc010cap.1	+	c.2091T>A	c.(2089-2091)ACT>ACA	p.T697T	ITGAD_uc002ebv.1_Silent_p.T696T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	696	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.150568	92.790636	133.943978	53	299	KEEP	---	---	---	---	capture		Silent	SNP	31425863	31425863	8188	16	T	A	A	A	717	56	ITGAD	3	3
IRX6	79190	broad.mit.edu	37	16	55363004	55363004	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55363004A>T	uc002ehy.2	+	c.1114A>T	c.(1114-1116)AGG>TGG	p.R372W	IRX6_uc002ehx.2_Missense_Mutation_p.R372W	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	372					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			central_nervous_system(5)|ovary(1)	6														0.205128	17.578585	20.725989	8	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55363004	55363004	8152	16	A	T	T	T	192	15	IRX6	3	3
TK2	7084	broad.mit.edu	37	16	66551088	66551088	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66551088T>A	uc002eos.2	-	c.695A>T	c.(694-696)TAC>TTC	p.Y232F	TK2_uc010vip.1_Missense_Mutation_p.Y93F|TK2_uc002eor.2_Missense_Mutation_p.Y159F|TK2_uc010cdq.2_Intron|TK2_uc010cdr.2_Missense_Mutation_p.Y141F|TK2_uc010viq.1_Missense_Mutation_p.Y214F|TK2_uc010vir.1_Missense_Mutation_p.Y207F	NM_004614	NP_004605	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	190					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)										0.105991	20.573748	54.031963	23	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66551088	66551088	16462	16	T	A	A	A	741	57	TK2	3	3
HYDIN	54768	broad.mit.edu	37	16	70843786	70843786	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70843786G>A	uc002ezr.2	-	c.14780C>T	c.(14779-14781)CCG>CTG	p.P4927L	HYDIN_uc010cfy.2_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4928										ovary(1)	1		Ovarian(137;0.0654)												0.127563	85.941896	145.183264	56	383	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70843786	70843786	7767	16	G	A	A	A	507	39	HYDIN	1	1
HYDIN	54768	broad.mit.edu	37	16	71007893	71007893	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71007893G>A	uc002ezr.2	-	c.5065C>T	c.(5065-5067)CTC>TTC	p.L1689F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1690										ovary(1)	1		Ovarian(137;0.0654)												0.152174	12.195207	17.522455	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71007893	71007893	7767	16	G	A	A	A	429	33	HYDIN	2	2
ADAMTS18	170692	broad.mit.edu	37	16	77355081	77355081	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77355081C>T	uc002ffc.3	-	c.2182G>A	c.(2182-2184)GAA>AAA	p.E728K	ADAMTS18_uc010chc.1_Missense_Mutation_p.E316K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E424K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	728	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.165354	40.089888	53.590184	21	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77355081	77355081	264	16	C	T	T	T	377	29	ADAMTS18	2	2
PKD1L2	114780	broad.mit.edu	37	16	81208495	81208495	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81208495C>A	uc002fgh.1	-	c.2608G>T	c.(2608-2610)GAG>TAG	p.E870*	PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.2_Nonsense_Mutation_p.E185*|PKD1L2_uc002fgj.2_Nonsense_Mutation_p.E870*|PKD1L2_uc002fgk.1_Nonsense_Mutation_p.E12*|PKD1L2_uc002fgl.1_Nonsense_Mutation_p.E126*	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	870	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.176471	29.571911	37.958751	15	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	81208495	81208495	12389	16	C	A	A	A	377	29	PKD1L2	5	2
MYH13	8735	broad.mit.edu	37	17	10206550	10206550	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10206550G>C	uc002gmk.1	-	c.5630C>G	c.(5629-5631)GCC>GGC	p.A1877G		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1877	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.206897	90.826773	104.664515	36	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10206550	10206550	10427	17	G	C	C	C	546	42	MYH13	3	3
TMEM132E	124842	broad.mit.edu	37	17	32953939	32953939	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32953939G>T	uc002hif.2	+	c.591G>T	c.(589-591)GAG>GAT	p.E197D		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	197	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)										0.291667	17.425404	18.352701	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32953939	32953939	16580	17	G	T	T	T	438	34	TMEM132E	2	2
OR1E2	8388	broad.mit.edu	37	17	3336374	3336374	+	Silent	SNP	G	C	C	rs436972		TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3336374G>C	uc010vre.1	-	c.762C>G	c.(760-762)CTC>CTG	p.L254L		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.102564	12.312549	36.856535	16	140	KEEP	---	---	---	---	capture		Silent	SNP	3336374	3336374	11361	17	G	C	C	C	418	33	OR1E2	3	3
KRT24	192666	broad.mit.edu	37	17	38859498	38859498	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38859498G>T	uc002hvd.2	-	c.448C>A	c.(448-450)CGC>AGC	p.R150S		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	150	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)				GBM(61;380 1051 14702 23642 31441)								0.07393	-3.94715	43.956139	19	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38859498	38859498	8776	17	G	T	T	T	507	39	KRT24	1	1
KRTAP4-5	85289	broad.mit.edu	37	17	39305599	39305599	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39305599A>C	uc002hwb.2	-	c.421T>G	c.(421-423)TGC>GGC	p.C141G		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	146	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|26.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)											0.135135	5.449275	10.226461	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39305599	39305599	8876	17	A	C	C	C	91	7	KRTAP4-5	4	4
DHX58	79132	broad.mit.edu	37	17	40255790	40255790	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40255790C>A	uc002hyw.3	-	c.1590G>T	c.(1588-1590)TTG>TTT	p.L530F	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.L523F	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	530	Potential.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)										0.25	11.763181	12.901768	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40255790	40255790	4693	17	C	A	A	A	376	29	DHX58	2	2
WNT9B	7484	broad.mit.edu	37	17	44953888	44953888	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44953888C>A	uc002ikw.1	+	c.878C>A	c.(877-879)CCC>CAC	p.P293H	WNT9B_uc002ikx.1_Missense_Mutation_p.P293H	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	293					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding				0			BRCA - Breast invasive adenocarcinoma(9;0.0257)											0.131148	10.871143	18.929434	8	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44953888	44953888	17973	17	C	A	A	A	286	22	WNT9B	2	2
SMTNL2	342527	broad.mit.edu	37	17	4500545	4500545	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4500545G>T	uc002fyf.1	+	c.1186G>T	c.(1186-1188)GAT>TAT	p.D396Y	SMTNL2_uc002fye.2_Missense_Mutation_p.D252Y	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2 isoform 1	396	CH.										0				READ - Rectum adenocarcinoma(115;0.0325)										0.264706	25.262837	26.962162	9	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4500545	4500545	15316	17	G	T	T	T	481	37	SMTNL2	1	1
IGF2BP1	10642	broad.mit.edu	37	17	47122378	47122378	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47122378C>A	uc002iom.2	+	c.1346C>A	c.(1345-1347)TCC>TAC	p.S449Y	IGF2BP1_uc010dbj.2_Missense_Mutation_p.S310Y	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	449	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)								0.202381	69.442036	83.281483	34	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47122378	47122378	7874	17	C	A	A	A	390	30	IGF2BP1	2	2
KIF2B	84643	broad.mit.edu	37	17	51901063	51901063	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:51901063C>T	uc002iua.2	+	c.669C>T	c.(667-669)CTC>CTT	p.L223L		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	223	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)	5														0.193548	24.675444	30.101777	12	50	KEEP	---	---	---	---	capture		Silent	SNP	51901063	51901063	8609	17	C	T	T	T	366	29	KIF2B	2	2
SCN4A	6329	broad.mit.edu	37	17	62025277	62025277	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62025277C>G	uc002jds.1	-	c.3291G>C	c.(3289-3291)TGG>TGC	p.W1097C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1097	III.|Helical; Name=S3 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.32	23.997412	24.71379	8	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62025277	62025277	14402	17	C	G	G	G	234	18	SCN4A	3	3
SDK2	54549	broad.mit.edu	37	17	71354344	71354344	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71354344C>A	uc010dfm.2	-	c.5468_splice	c.e40-1	p.G1823_splice	SDK2_uc002jjt.3_Splice_Site_SNP_p.G963_splice|SDK2_uc010dfn.2_Intron	NM_001144952	NP_001138424			sidekick 2						cell adhesion	integral to membrane				ovary(2)	2														0.219512	20.65317	23.624391	9	32	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	71354344	71354344	14455	17	C	A	A	A	312	24	SDK2	5	2
GPR142	350383	broad.mit.edu	37	17	72363784	72363784	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72363784A>T	uc010wqy.1	+	c.140A>T	c.(139-141)CAT>CTT	p.H47L	GPR142_uc010wqx.1_5'UTR	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	47	Extracellular (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3														0.216216	19.485019	22.230445	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72363784	72363784	6924	17	A	T	T	T	104	8	GPR142	3	3
TP53	7157	broad.mit.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578463C>G	uc002gim.2	-	c.467G>C	c.(466-468)CGC>CCC	p.R156P	TP53_uc002gig.1_Missense_Mutation_p.R156P|TP53_uc002gih.2_Missense_Mutation_p.R156P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R24P|TP53_uc010cng.1_Missense_Mutation_p.R24P|TP53_uc002gii.1_Missense_Mutation_p.R24P|TP53_uc010cnh.1_Missense_Mutation_p.R156P|TP53_uc010cni.1_Missense_Mutation_p.R156P|TP53_uc002gij.2_Missense_Mutation_p.R156P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R63P|TP53_uc002gio.2_Missense_Mutation_p.R24P|TP53_uc010vug.1_Missense_Mutation_p.R117P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	156	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R156P(24)|p.R156H(10)|p.0?(6)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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.R156P(HTK-Tumor)|p.R156P(HOS-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.22973	42.539411	47.503826	17	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7578463	7578463	16923	17	C	G	G	G	351	27	TP53	3	3
CCDC40	55036	broad.mit.edu	37	17	78063608	78063608	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78063608G>A	uc010dht.2	+	c.2757G>A	c.(2755-2757)GAG>GAA	p.E919E	CCDC40_uc002jxm.3_Silent_p.E702E|CCDC40_uc002jxn.3_Silent_p.E315E	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	919	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)											0.160714	17.841309	23.974864	9	47	KEEP	---	---	---	---	capture		Silent	SNP	78063608	78063608	2934	17	G	A	A	A	425	33	CCDC40	2	2
SLC25A10	1468	broad.mit.edu	37	17	79687006	79687006	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79687006G>T	uc010wut.1	+	c.1228G>T	c.(1228-1230)GGC>TGC	p.G410C	SLC25A10_uc002kbi.2_Missense_Mutation_p.G255C|SLC25A10_uc010dif.2_Missense_Mutation_p.G264C|SLC25A10_uc010wuu.1_Missense_Mutation_p.G209C	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	255	Solcar 3.|Helical; Name=6; (Potential).				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)									0.4	12.097826	12.185344	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79687006	79687006	14969	17	G	T	T	T	559	43	SLC25A10	2	2
PIK3R6	146850	broad.mit.edu	37	17	8732134	8732134	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8732134C>A	uc002glq.1	-	c.1063G>T	c.(1063-1065)GCA>TCA	p.A355S	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	355					platelet activation	cytosol					0														0.129032	4.681769	8.834627	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8732134	8732134	12347	17	C	A	A	A	325	25	PIK3R6	2	2
GLP2R	9340	broad.mit.edu	37	17	9729482	9729482	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9729482C>A	uc002gmd.1	+	c.102C>A	c.(100-102)ACC>ACA	p.T34T	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	34	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				ovary(1)	1					Glucagon recombinant(DB00040)									0.178571	9.357714	12.081593	5	23	KEEP	---	---	---	---	capture		Silent	SNP	9729482	9729482	6721	17	C	A	A	A	262	21	GLP2R	2	2
DSC3	1825	broad.mit.edu	37	18	28609555	28609555	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28609555G>T	uc002kwj.3	-	c.394C>A	c.(394-396)CGT>AGT	p.R132S	DSC3_uc002kwi.3_Missense_Mutation_p.R132S	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	132					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(10;0.125)											0.130137	27.901619	47.304949	19	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28609555	28609555	4951	18	G	T	T	T	494	38	DSC3	1	1
RIT2	6014	broad.mit.edu	37	18	40503707	40503707	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:40503707C>A	uc002lav.2	-	c.256G>T	c.(256-258)GAG>TAG	p.E86*	RIT2_uc010dnf.2_Nonsense_Mutation_p.E86*	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	86					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1														0.04661	-31.395543	20.264591	11	225	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40503707	40503707	13864	18	C	A	A	A	390	30	RIT2	5	2
SETBP1	26040	broad.mit.edu	37	18	42532344	42532344	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42532344G>T	uc010dni.2	+	c.3039G>T	c.(3037-3039)TTG>TTT	p.L1013F		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1013						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.082192	-3.520669	22.490268	12	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42532344	42532344	14617	18	G	T	T	T	581	45	SETBP1	2	2
SETBP1	26040	broad.mit.edu	37	18	42533272	42533272	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42533272G>T	uc010dni.2	+	c.3967G>T	c.(3967-3969)GAG>TAG	p.E1323*		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1323						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.082474	-1.058544	16.135392	8	89	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42533272	42533272	14617	18	G	T	T	T	533	41	SETBP1	5	2
SMAD4	4089	broad.mit.edu	37	18	48584798	48584798	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48584798G>T	uc010xdp.1	+	c.876G>T	c.(874-876)CCG>CCT	p.P292P	SMAD4_uc002lfb.3_Silent_p.P137P	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	292	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|promoter binding|protein homodimerization activity|R-SMAD binding|transcription activator activity|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)		pancreas(169)|large_intestine(108)|thyroid(19)|lung(10)|small_intestine(9)|biliary_tract(8)|upper_aerodigestive_tract(7)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	364		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)					p.P292P(MFE319-Tumor)	233				0.207792	37.794619	43.858615	16	61	KEEP	---	---	---	---	capture		Silent	SNP	48584798	48584798	15258	18	G	T	T	T	483	38	SMAD4	1	1
BCL2	596	broad.mit.edu	37	18	60985504	60985504	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:60985504C>A	uc002lit.1	-	c.396G>T	c.(394-396)ACG>ACT	p.T132T	BCL2_uc002liu.1_Silent_p.T132T|BCL2_uc002liv.1_Silent_p.T132T	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	132					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|transcription activator activity			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)					37				0.178571	9.872456	12.58437	5	23	KEEP	---	---	---	---	capture		Silent	SNP	60985504	60985504	1386	18	C	A	A	A	288	23	BCL2	1	1
SERPINB7	8710	broad.mit.edu	37	18	61468104	61468104	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61468104C>T	uc002ljl.2	+	c.602C>T	c.(601-603)TCT>TTT	p.S201F	SERPINB7_uc002ljm.2_Missense_Mutation_p.S201F|SERPINB7_uc010xet.1_Missense_Mutation_p.S184F|SERPINB7_uc010dqg.2_Missense_Mutation_p.S201F	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	201					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)												0.1	5.071146	16.261684	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61468104	61468104	14594	18	C	T	T	T	416	32	SERPINB7	2	2
CDH19	28513	broad.mit.edu	37	18	64235932	64235932	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:64235932C>A	uc002lkc.1	-	c.211G>T	c.(211-213)GAC>TAC	p.D71Y	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.D71Y|CDH19_uc002lkd.2_Missense_Mutation_p.D71Y	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	71	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1		Esophageal squamous(42;0.0132)												0.063492	-3.854846	8.64224	4	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64235932	64235932	3233	18	C	A	A	A	416	32	CDH19	2	2
TSHZ1	10194	broad.mit.edu	37	18	72998442	72998442	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72998442G>T	uc002lly.2	+	c.945G>T	c.(943-945)GCG>GCT	p.A315A		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	360					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)										0.096774	0.271041	10.347202	6	56	KEEP	---	---	---	---	capture		Silent	SNP	72998442	72998442	17174	18	G	T	T	T	483	38	TSHZ1	1	1
KIAA0802	23255	broad.mit.edu	37	18	8784395	8784395	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:8784395G>T	uc002knr.2	+	c.1285G>T	c.(1285-1287)GGG>TGG	p.G429W	KIAA0802_uc002knq.2_Missense_Mutation_p.G429W|KIAA0802_uc010dkw.1_Missense_Mutation_p.G267W	NM_015210	NP_056025	Q9Y4B5	K0802_HUMAN	hypothetical protein LOC23255	780										ovary(6)|central_nervous_system(1)	7										468				0.196078	24.044375	28.41645	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8784395	8784395	8501	18	G	T	T	T	507	39	KIAA0802	1	1
KEAP1	9817	broad.mit.edu	37	19	10610277	10610277	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10610277T>A	uc002moq.1	-	c.433A>T	c.(433-435)ATC>TTC	p.I145F	KEAP1_uc002mor.1_Missense_Mutation_p.I145F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	145	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(2)|ovary(1)|pancreas(1)	4			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)											0.238095	12.363372	13.680498	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10610277	10610277	8447	19	T	A	A	A	663	51	KEAP1	3	3
DOCK6	57572	broad.mit.edu	37	19	11326604	11326604	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11326604C>A	uc002mqs.3	-	c.3895_splice	c.e31-1	p.G1299_splice	DOCK6_uc010xlq.1_Splice_Site_SNP_p.G638_splice	NM_020812	NP_065863			dedicator of cytokinesis 6						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3														0.214286	6.516989	7.572891	3	11	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	11326604	11326604	4875	19	C	A	A	A	312	24	DOCK6	5	2
SLC1A6	6511	broad.mit.edu	37	19	15072906	15072906	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15072906G>T	uc002naa.1	-	c.843C>A	c.(841-843)GTC>GTA	p.V281V	SLC1A6_uc010dzu.1_Silent_p.V281V|SLC1A6_uc010xod.1_Silent_p.V217V|SLC1A6_uc002nab.2_Silent_p.V281V|SLC1A6_uc002nac.2_Silent_p.V281V	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	281	Helical; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)	5					L-Glutamic Acid(DB00142)									0.096491	9.694712	46.924805	22	206	KEEP	---	---	---	---	capture		Silent	SNP	15072906	15072906	14932	19	G	T	T	T	574	45	SLC1A6	2	2
CYP4F12	66002	broad.mit.edu	37	19	15789216	15789216	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15789216G>T	uc002nbl.2	+	c.343_splice	c.e3+1	p.A115_splice	CYP4F12_uc010xoo.1_Splice_Site_SNP_p.A115_splice|CYP4F12_uc010xop.1_Splice_Site_SNP_p.A115_splice	NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,						oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|central_nervous_system(2)	4	Acute lymphoblastic leukemia(2;0.0367)													0.101695	3.404214	12.748441	6	53	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	15789216	15789216	4352	19	G	T	T	T	572	44	CYP4F12	5	2
SF4	57794	broad.mit.edu	37	19	19413082	19413082	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19413082C>G	uc002nmh.2	-	c.879G>C	c.(877-879)CAG>CAC	p.Q293H	SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.Q83H|SF4_uc002nmj.2_Missense_Mutation_p.Q83H|SF4_uc010xqr.1_Non-coding_Transcript|SF4_uc010xqs.1_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	293	SURP motif 2.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0														0.136364	8.717695	14.354295	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19413082	19413082	14644	19	C	G	G	G	311	24	SF4	3	3
CILP2	148113	broad.mit.edu	37	19	19653355	19653355	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19653355G>T	uc002nmw.3	+	c.782G>T	c.(781-783)AGC>ATC	p.S261I	CILP2_uc002nmv.3_Missense_Mutation_p.S255I	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	255						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1														0.166667	5.713944	7.610129	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19653355	19653355	3564	19	G	T	T	T	442	34	CILP2	2	2
ZNF208	7757	broad.mit.edu	37	19	22156642	22156642	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22156642T>A	uc002nqp.2	-	c.1194A>T	c.(1192-1194)AAA>AAT	p.K398N	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.073529	-0.876318	11.831582	5	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22156642	22156642	18357	19	T	A	A	A	673	52	ZNF208	3	3
TSHZ3	57616	broad.mit.edu	37	19	31769558	31769558	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31769558G>A	uc002nsy.3	-	c.1141C>T	c.(1141-1143)CGG>TGG	p.R381W		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	381					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding	p.R198W(1)		ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.175532	63.871024	82.541114	33	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31769558	31769558	17176	19	G	A	A	A	506	39	TSHZ3	1	1
MAG	4099	broad.mit.edu	37	19	35804348	35804348	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35804348G>T	uc002nyy.1	+	c.1872G>T	c.(1870-1872)CGG>CGT	p.R624R	MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Silent_p.R599R|MAG_uc002nyz.1_Intron	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	624	Cytoplasmic (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			central_nervous_system(1)	1	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)											0.125	5.177697	9.574691	4	28	KEEP	---	---	---	---	capture		Silent	SNP	35804348	35804348	9539	19	G	T	T	T	548	43	MAG	2	2
KIRREL2	84063	broad.mit.edu	37	19	36357307	36357307	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36357307G>T	uc002ocb.3	+	c.2040G>T	c.(2038-2040)GGG>GGT	p.G680G	KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Silent_p.G627G|KIRREL2_uc002ocd.3_Silent_p.G642G|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	680	Pro-rich.|Cytoplasmic (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.106383	3.840853	11.071903	5	42	KEEP	---	---	---	---	capture		Silent	SNP	36357307	36357307	8637	19	G	T	T	T	535	42	KIRREL2	2	2
ZNF260	339324	broad.mit.edu	37	19	37005529	37005529	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37005529C>T	uc002oee.1	-	c.612G>A	c.(610-612)AAG>AAA	p.K204K	ZNF260_uc002oed.1_Silent_p.K201K|ZNF260_uc010eey.1_Silent_p.K201K|ZNF260_uc002oef.1_Silent_p.K201K	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	204	C2H2-type 6.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.162)													0.114754	8.585508	17.504565	7	54	KEEP	---	---	---	---	capture		Silent	SNP	37005529	37005529	18394	19	C	T	T	T	311	24	ZNF260	2	2
ZNF568	374900	broad.mit.edu	37	19	37428074	37428074	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37428074G>T	uc002ofc.2	+	c.288G>T	c.(286-288)GTG>GTT	p.V96V	ZNF568_uc010efg.2_Silent_p.V82V|ZNF568_uc010xtn.1_Silent_p.V20V|ZNF568_uc002ofd.2_Silent_p.V20V|ZNF568_uc010efe.2_Silent_p.V20V|ZNF568_uc010eff.1_Silent_p.V82V	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	96	KRAB.			V -> M (in Ref. 4; AAH31218).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.142857	10.320448	15.483572	6	36	KEEP	---	---	---	---	capture		Silent	SNP	37428074	37428074	18594	19	G	T	T	T	574	45	ZNF568	2	2
ZNF420	147923	broad.mit.edu	37	19	37618139	37618139	+	Silent	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37618139A>G	uc002ofl.2	+	c.246A>G	c.(244-246)GAA>GAG	p.E82E		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	82	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.230769	42.392071	46.708575	15	50	KEEP	---	---	---	---	capture		Silent	SNP	37618139	37618139	18490	19	A	G	G	G	37	3	ZNF420	4	4
ZNF540	163255	broad.mit.edu	37	19	38102961	38102961	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38102961A>T	uc002ogq.2	+	c.780A>T	c.(778-780)CGA>CGT	p.R260R	ZNF540_uc002ogu.2_Silent_p.R260R|ZNF540_uc010efq.2_Silent_p.R228R	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	260	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.28	18.11454	19.202379	7	18	KEEP	---	---	---	---	capture		Silent	SNP	38102961	38102961	18569	19	A	T	T	T	119	10	ZNF540	3	3
DPF1	8193	broad.mit.edu	37	19	38709593	38709593	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38709593T>A	uc002ohm.2	-	c.485A>T	c.(484-486)GAG>GTG	p.E162V	DPF1_uc002ohl.2_Missense_Mutation_p.E162V|DPF1_uc002ohn.2_Missense_Mutation_p.E80V|DPF1_uc010xtu.1_Missense_Mutation_p.E136V|DPF1_uc010xtv.1_Missense_Mutation_p.E136V|DPF1_uc010xtw.1_Missense_Mutation_p.E136V	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1 isoform	162					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)											0.119048	5.854213	11.831454	5	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38709593	38709593	4900	19	T	A	A	A	702	54	DPF1	3	3
LGALS14	56891	broad.mit.edu	37	19	40197260	40197260	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40197260C>A	uc002omf.2	+	c.126C>A	c.(124-126)TCC>TCA	p.S42S	LGALS14_uc002omg.2_Silent_p.S13S	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14 isoform	13	Galectin.			SL -> PC (in Ref. 1; AAP97241).		nucleus	sugar binding			ovary(1)	1	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)											0.192	101.552517	123.70909	48	202	KEEP	---	---	---	---	capture		Silent	SNP	40197260	40197260	9066	19	C	A	A	A	301	24	LGALS14	2	2
FCGBP	8857	broad.mit.edu	37	19	40384136	40384136	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40384136C>A	uc002omp.3	-	c.9474G>T	c.(9472-9474)GAG>GAT	p.E3158D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	3158	TIL 7.					extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)											0.086331	1.518555	25.624203	12	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40384136	40384136	6015	19	C	A	A	A	311	24	FCGBP	2	2
PRX	57716	broad.mit.edu	37	19	40900086	40900086	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40900086C>A	uc002onr.2	-	c.4173G>T	c.(4171-4173)CGG>CGT	p.R1391R	PRX_uc002onq.2_Silent_p.R1252R|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1391					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)											0.15873	14.801851	21.810085	10	53	KEEP	---	---	---	---	capture		Silent	SNP	40900086	40900086	13093	19	C	A	A	A	275	22	PRX	2	2
GRIK5	2901	broad.mit.edu	37	19	42566721	42566721	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42566721C>A	uc002osj.1	-	c.427G>T	c.(427-429)GAG>TAG	p.E143*	GRIK5_uc010eib.1_Nonsense_Mutation_p.E62*	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	143	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)									0.0875	1.381565	15.149984	7	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42566721	42566721	7056	19	C	A	A	A	403	31	GRIK5	5	1
PSG1	5669	broad.mit.edu	37	19	43376024	43376024	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43376024G>T	uc010eio.1	-	c.604C>A	c.(604-606)CTC>ATC	p.L202I	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.L202I|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Non-coding_Transcript|PSG1_uc002our.1_Missense_Mutation_p.L202I|PSG1_uc002oux.1_Missense_Mutation_p.L131I|PSG1_uc002ouy.1_Missense_Mutation_p.L202I|PSG1_uc002ouz.1_Missense_Mutation_p.L202I|PSG1_uc002ova.1_Intron|PSG1_uc002ovb.2_Missense_Mutation_p.L202I|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.L202I	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	202	Ig-like C2-type 1.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)												0.142229	151.038631	235.212642	97	585	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43376024	43376024	13106	19	G	T	T	T	455	35	PSG1	2	2
PSG7	5676	broad.mit.edu	37	19	43430685	43430685	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43430685G>T	uc002ovl.3	-	c.893C>A	c.(892-894)CCC>CAC	p.P298H	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Non-coding_Transcript|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.P176H	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	298	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.167247	86.107194	116.244862	48	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43430685	43430685	13113	19	G	T	T	T	559	43	PSG7	2	2
PSG2	5670	broad.mit.edu	37	19	43579524	43579524	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43579524C>G	uc010eiq.1	-	c.691G>C	c.(691-693)GTC>CTC	p.V231L	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.V231L|PSG2_uc002ovq.3_Missense_Mutation_p.V231L|PSG2_uc002ovs.3_Missense_Mutation_p.V231L|PSG2_uc002ovt.3_Missense_Mutation_p.V231L	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	231	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.10609	54.081327	132.536881	54	455	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43579524	43579524	13108	19	C	G	G	G	260	20	PSG2	3	3
ZNF226	7769	broad.mit.edu	37	19	44681152	44681152	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44681152G>T	uc002oyp.2	+	c.1737G>T	c.(1735-1737)CTG>CTT	p.L579L	ZNF226_uc002oyq.2_Silent_p.L462L|ZNF226_uc002oyr.2_Silent_p.L462L|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.L579L|ZNF226_uc002oyt.2_Silent_p.L579L	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN	zinc finger protein 226 isoform a	579	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				Pancreas(115;581 1665 13228 19278 50070)								0.15544	50.328536	72.216357	30	163	KEEP	---	---	---	---	capture		Silent	SNP	44681152	44681152	18371	19	G	T	T	T	574	45	ZNF226	2	2
MARK4	57787	broad.mit.edu	37	19	45783904	45783904	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45783904A>T	uc002pba.1	+	c.1188A>T	c.(1186-1188)GGA>GGT	p.G396G	MARK4_uc002paz.1_3'UTR|MARK4_uc002pbb.1_Silent_p.G396G|MARK4_uc002pbc.1_Silent_p.G262G	NM_031417	NP_113605	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	396					microtubule bundle formation|nervous system development|positive regulation of programmed cell death|protein phosphorylation	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)						167				0.236842	19.95991	22.362694	9	29	KEEP	---	---	---	---	capture		Silent	SNP	45783904	45783904	9698	19	A	T	T	T	106	9	MARK4	3	3
IGFL2	147920	broad.mit.edu	37	19	46664088	46664088	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46664088G>T	uc002peb.2	+	c.324G>T	c.(322-324)CAG>CAT	p.Q108H	IGFL2_uc010xxv.1_Missense_Mutation_p.Q97H	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2 isoform a	97						extracellular region					0		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)										0.174603	46.118022	58.669243	22	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46664088	46664088	7888	19	G	T	T	T	451	35	IGFL2	2	2
SLC8A2	6543	broad.mit.edu	37	19	47969457	47969457	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47969457C>A	uc002pgx.2	-	c.204G>T	c.(202-204)AAG>AAT	p.K68N	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.K68N	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	68	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			ovary(1)	1		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)										0.178571	8.656185	11.381633	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47969457	47969457	15204	19	C	A	A	A	311	24	SLC8A2	2	2
BCAT2	587	broad.mit.edu	37	19	49300495	49300495	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49300495T>A	uc002pkp.2	-	c.671A>T	c.(670-672)GAG>GTG	p.E224V	BCAT2_uc002pkq.3_Missense_Mutation_p.E224V|BCAT2_uc002pkr.2_Missense_Mutation_p.E264V|BCAT2_uc002pks.2_Missense_Mutation_p.E224V|BCAT2_uc002pkt.2_Missense_Mutation_p.E172V|BCAT2_uc010emh.1_Missense_Mutation_p.E264V|BCAT2_uc010emi.1_Missense_Mutation_p.E172V	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	264						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)									0.25	12.080024	13.206871	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49300495	49300495	1376	19	T	A	A	A	702	54	BCAT2	3	3
VRK3	51231	broad.mit.edu	37	19	50510998	50510998	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50510998C>A	uc002prg.2	-	c.375G>T	c.(373-375)AAG>AAT	p.K125N	VRK3_uc002prh.1_Missense_Mutation_p.K125N|VRK3_uc002pri.1_Missense_Mutation_p.K75N|VRK3_uc010ens.2_Missense_Mutation_p.K125N|VRK3_uc010ybl.1_Missense_Mutation_p.K75N|VRK3_uc010ybm.1_5'UTR|VRK3_uc002prj.1_Missense_Mutation_p.K75N|VRK3_uc002prk.1_Missense_Mutation_p.K125N|VRK3_uc010ent.1_5'UTR|VRK3_uc002prl.2_Missense_Mutation_p.K125N|VRK3_uc010ybn.1_Missense_Mutation_p.K125N	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	125					protein phosphorylation	nucleus	ATP binding|protein kinase activity				0		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)				222				0.112	12.253589	30.854081	14	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50510998	50510998	17788	19	C	A	A	A	415	32	VRK3	2	2
PTPRS	5802	broad.mit.edu	37	19	5207955	5207955	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5207955C>A	uc002mbv.2	-	c.5756G>T	c.(5755-5757)CGG>CTG	p.R1919L	PTPRS_uc002mbu.1_Missense_Mutation_p.R1488L|PTPRS_uc010xin.1_Missense_Mutation_p.R1461L|PTPRS_uc002mbw.2_Missense_Mutation_p.R1881L|PTPRS_uc002mbx.2_Missense_Mutation_p.R1476L|PTPRS_uc002mby.2_Missense_Mutation_p.R1472L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1919	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				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)										0.174603	20.883691	27.198699	11	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5207955	5207955	13269	19	C	A	A	A	299	23	PTPRS	1	1
HAS1	3036	broad.mit.edu	37	19	52220291	52220291	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52220291C>T	uc002pxn.1	-	c.879G>A	c.(877-879)TGG>TGA	p.W293*	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Nonsense_Mutation_p.W251*|HAS1_uc002pxo.1_Nonsense_Mutation_p.W286*|HAS1_uc002pxp.1_Nonsense_Mutation_p.W285*	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	286	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		NSCLC(132;636 2450 45807 47979)								0.195122	69.055234	83.233801	32	132	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52220291	52220291	7243	19	C	T	T	T	286	22	HAS1	5	2
FPR2	2358	broad.mit.edu	37	19	52272116	52272116	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52272116C>A	uc002pxr.2	+	c.205C>A	c.(205-207)CTG>ATG	p.L69M	FPR2_uc002pxs.3_Missense_Mutation_p.L69M|FPR2_uc010epf.2_Missense_Mutation_p.L69M	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	69	Helical; Name=2; (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)	1														0.146853	31.779798	48.921839	21	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52272116	52272116	6285	19	C	A	A	A	311	24	FPR2	2	2
ZNF534	147658	broad.mit.edu	37	19	52937330	52937330	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52937330C>T	uc002pzk.2	+	c.138C>T	c.(136-138)TCC>TCT	p.S46S	ZNF534_uc002pzj.1_Silent_p.S46S|ZNF534_uc010epo.1_Silent_p.S46S|ZNF534_uc002pzl.2_Silent_p.S46S	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.142857	19.109607	30.302256	13	78	KEEP	---	---	---	---	capture		Silent	SNP	52937330	52937330	18567	19	C	T	T	T	275	22	ZNF534	2	2
ZNF347	84671	broad.mit.edu	37	19	53643919	53643919	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53643919C>A	uc010eql.1	-	c.2165G>T	c.(2164-2166)CGT>CTT	p.R722L	ZNF347_uc002qbb.1_Missense_Mutation_p.R721L|ZNF347_uc002qbc.1_Missense_Mutation_p.R722L	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	721	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)		Melanoma(64;205 1597 17324 45721)								0.151515	28.395039	39.880659	15	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53643919	53643919	18453	19	C	A	A	A	247	19	ZNF347	1	1
ZNF331	55422	broad.mit.edu	37	19	54080157	54080157	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54080157G>T	uc002qbx.1	+	c.343G>T	c.(343-345)GAA>TAA	p.E115*	ZNF331_uc002qby.1_Nonsense_Mutation_p.E115*|ZNF331_uc002qbz.1_Nonsense_Mutation_p.E115*|ZNF331_uc002qca.1_Nonsense_Mutation_p.E115*|ZNF331_uc010eqr.1_Nonsense_Mutation_p.E115*|ZNF331_uc002qcb.1_Nonsense_Mutation_p.E115*|ZNF331_uc002qcc.1_Nonsense_Mutation_p.E115*|ZNF331_uc002qcd.1_Nonsense_Mutation_p.E115*	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00555)						85				0.160714	17.047865	23.176324	9	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	54080157	54080157	18441	19	G	T	T	T	429	33	ZNF331	5	2
LILRA1	11024	broad.mit.edu	37	19	55106734	55106734	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55106734G>T	uc002qgh.1	+	c.528G>T	c.(526-528)GGG>GGT	p.G176G	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.G176G	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	176	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0348)										0.087912	2.139821	17.76019	8	83	KEEP	---	---	---	---	capture		Silent	SNP	55106734	55106734	9110	19	G	T	T	T	561	44	LILRA1	2	2
NLRP7	199713	broad.mit.edu	37	19	55451464	55451464	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55451464G>A	uc010esl.2	-	c.807C>T	c.(805-807)ATC>ATT	p.I269I	NLRP7_uc002qig.3_Silent_p.I241I|NLRP7_uc002qii.3_Silent_p.I241I|NLRP7_uc002qih.3_Silent_p.I241I|NLRP7_uc010esk.2_Silent_p.I241I	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	241	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)										0.178571	21.724553	27.163249	10	46	KEEP	---	---	---	---	capture		Silent	SNP	55451464	55451464	10885	19	G	A	A	A	525	41	NLRP7	2	2
NLRP8	126205	broad.mit.edu	37	19	56459540	56459540	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56459540G>A	uc002qmh.2	+	c.272G>A	c.(271-273)CGT>CAT	p.R91H	NLRP8_uc010etg.2_Missense_Mutation_p.R91H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN.					cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)										0.148148	5.519798	8.699968	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56459540	56459540	10886	19	G	A	A	A	520	40	NLRP8	1	1
NLRP5	126206	broad.mit.edu	37	19	56549544	56549544	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56549544C>A	uc002qmj.2	+	c.2769C>A	c.(2767-2769)TGC>TGA	p.C923*	NLRP5_uc002qmi.2_Nonsense_Mutation_p.C904*	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	923						mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)	6		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)										0.183673	40.701408	49.895686	18	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56549544	56549544	10883	19	C	A	A	A	350	27	NLRP5	5	1
ZNF71	58491	broad.mit.edu	37	19	57133591	57133591	+	Silent	SNP	G	T	T	rs17851130		TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57133591G>T	uc002qnm.3	+	c.936G>T	c.(934-936)TCG>TCT	p.S312S		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	312	C2H2-type 7.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)										0.142857	22.70938	35.586782	15	90	KEEP	---	---	---	---	capture		Silent	SNP	57133591	57133591	18710	19	G	T	T	T	483	38	ZNF71	1	1
ZNF772	400720	broad.mit.edu	37	19	57985206	57985206	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57985206G>A	uc002qot.2	-	c.906C>T	c.(904-906)ACC>ACT	p.T302T	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.T261T|ZNF772_uc010ygz.1_Silent_p.T190T|ZNF772_uc010yha.1_Silent_p.T248T|ZNF772_uc002qou.2_Silent_p.T190T	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	302	C2H2-type 4.				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;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		Melanoma(5;289 436 14293 15924 30817)								0.137681	31.135859	48.659448	19	119	KEEP	---	---	---	---	capture		Silent	SNP	57985206	57985206	18743	19	G	A	A	A	444	35	ZNF772	2	2
MUC16	94025	broad.mit.edu	37	19	9007492	9007492	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9007492G>T	uc002mkp.2	-	c.39476C>A	c.(39475-39477)CCC>CAC	p.P13159H	MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13161	Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.168831	25.128719	33.124263	13	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9007492	9007492	10367	19	G	T	T	T	559	43	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9074611	9074611	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9074611G>C	uc002mkp.2	-	c.12835C>G	c.(12835-12837)CAC>GAC	p.H4279D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4281	Thr-rich.|Extracellular (Potential).|Ser-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.231707	89.270477	100.083886	38	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9074611	9074611	10367	19	G	C	C	C	611	47	MUC16	3	3
OR7G1	125962	broad.mit.edu	37	19	9225524	9225524	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9225524C>A	uc002mks.1	-	c.916G>T	c.(916-918)GGC>TGC	p.G306C		NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G,	306	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.238095	85.745479	94.962312	35	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9225524	9225524	11633	19	C	A	A	A	273	21	OR7G1	2	2
ZNF317	57693	broad.mit.edu	37	19	9271828	9271828	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9271828G>T	uc002mku.2	+	c.1507G>T	c.(1507-1509)GAG>TAG	p.E503*	ZNF317_uc002mkv.2_Nonsense_Mutation_p.E362*|ZNF317_uc002mkw.2_Nonsense_Mutation_p.E471*|ZNF317_uc002mkx.2_Nonsense_Mutation_p.E418*|ZNF317_uc002mky.2_Nonsense_Mutation_p.E386*	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	503	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.180723	27.009528	35.073293	15	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9271828	9271828	18427	19	G	T	T	T	585	45	ZNF317	5	2
ZNF177	7730	broad.mit.edu	37	19	9492394	9492394	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9492394A>G	uc002mli.2	+	c.907A>G	c.(907-909)ACA>GCA	p.T303A	ZNF177_uc002mlj.2_Missense_Mutation_p.T253A|ZNF177_uc002mlk.2_Missense_Mutation_p.T303A	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	303	C2H2-type 7.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.134259	40.231971	68.255421	29	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9492394	9492394	18337	19	A	G	G	G	78	6	ZNF177	4	4
COL11A1	1301	broad.mit.edu	37	1	103345238	103345238	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103345238C>A	uc001dum.2	-	c.5310_splice	c.e66+1	p.A1770_splice	COL11A1_uc001duk.2_Splice_Site_SNP_p.A954_splice|COL11A1_uc001dul.2_Splice_Site_SNP_p.A1758_splice|COL11A1_uc001dun.2_Splice_Site_SNP_p.A1719_splice|COL11A1_uc009weh.2_Splice_Site_SNP_p.A1642_splice	NM_080629	NP_542196			alpha 1 type XI collagen isoform B						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.096774	1.635473	6.657578	3	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	103345238	103345238	3805	1	C	A	A	A	234	18	COL11A1	5	2
COL11A1	1301	broad.mit.edu	37	1	103467508	103467508	+	Silent	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103467508T>C	uc001dum.2	-	c.2151A>G	c.(2149-2151)CAA>CAG	p.Q717Q	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dul.2_Silent_p.Q705Q|COL11A1_uc001dun.2_Silent_p.Q666Q|COL11A1_uc009weh.2_Silent_p.Q589Q	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	705	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.105263	12.980389	27.690955	10	85	KEEP	---	---	---	---	capture		Silent	SNP	103467508	103467508	3805	1	T	C	C	C	725	56	COL11A1	4	4
AKNAD1	254268	broad.mit.edu	37	1	109395075	109395075	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109395075A>G	uc001dwa.2	-	c.212T>C	c.(211-213)ATA>ACA	p.I71T	AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	71										ovary(3)	3														0.15748	39.221076	53.439621	20	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109395075	109395075	467	1	A	G	G	G	208	16	AKNAD1	4	4
CTTNBP2NL	55917	broad.mit.edu	37	1	112998615	112998615	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:112998615G>T	uc001ebx.2	+	c.501G>T	c.(499-501)CAG>CAT	p.Q167H	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	167	Potential.					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)										0.269841	42.944358	45.957959	17	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112998615	112998615	4205	1	G	T	T	T	438	34	CTTNBP2NL	2	2
BCAS2	10286	broad.mit.edu	37	1	115110861	115110861	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115110861T>A	uc001efa.2	-	c.568A>T	c.(568-570)AGT>TGT	p.S190C	DENND2C_uc001eez.2_Non-coding_Transcript	NM_005872	NP_005863	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	190	Potential.				mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			large_intestine(1)	1	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-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)										0.056818	-6.397491	11.752857	5	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115110861	115110861	1372	1	T	A	A	A	715	55	BCAS2	3	3
AMPD1	270	broad.mit.edu	37	1	115220063	115220063	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115220063G>A	uc001efe.1	-	c.1297C>T	c.(1297-1299)CCT>TCT	p.P433S	AMPD1_uc001eff.1_Missense_Mutation_p.P429S	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	433					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-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)	Adenosine monophosphate(DB00131)									0.2	14.204132	17.135307	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115220063	115220063	588	1	G	A	A	A	533	41	AMPD1	2	2
TSPAN2	10100	broad.mit.edu	37	1	115596060	115596060	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115596060G>T	uc001eft.2	-	c.540C>A	c.(538-540)ACC>ACA	p.T180T		NM_005725	NP_005716	O60636	TSN2_HUMAN	tetraspan 2	180	Extracellular (Potential).					integral to membrane					0	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)										0.097345	7.035028	25.390855	11	102	KEEP	---	---	---	---	capture		Silent	SNP	115596060	115596060	17195	1	G	T	T	T	600	47	TSPAN2	2	2
C1orf161	126868	broad.mit.edu	37	1	116666737	116666737	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:116666737C>A	uc001egc.1	+	c.240C>A	c.(238-240)GCC>GCA	p.A80A		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	hypothetical protein LOC126868	80											0	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)										0.222222	38.576972	43.677447	16	56	KEEP	---	---	---	---	capture		Silent	SNP	116666737	116666737	2076	1	C	A	A	A	288	23	C1orf161	1	1
CD2	914	broad.mit.edu	37	1	117311375	117311375	+	Silent	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117311375A>G	uc001egu.3	+	c.1026A>G	c.(1024-1026)GCA>GCG	p.A342A		NM_001767	NP_001758	P06729	CD2_HUMAN	CD2 molecule precursor	342	Cytoplasmic (Potential).			HGAAENSLSPSSN -> MGQQKTHCPLPLIKKDRNCLFQ (in Ref. 3; AAA51946).	blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			breast(1)	1	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	NSCLC(14;263 555 26380 43512 51332)								0.095652	7.382614	26.454042	11	104	KEEP	---	---	---	---	capture		Silent	SNP	117311375	117311375	3106	1	A	G	G	G	80	7	CD2	4	4
SPAG17	200162	broad.mit.edu	37	1	118558770	118558770	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:118558770T>A	uc001ehk.2	-	c.4105A>T	c.(4105-4107)AAG>TAG	p.K1369*		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1369						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)										0.071429	-5.958174	12.624569	7	91	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	118558770	118558770	15482	1	T	A	A	A	793	61	SPAG17	5	3
NOTCH2	4853	broad.mit.edu	37	1	120459056	120459056	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120459056T>A	uc001eik.2	-	c.6289A>T	c.(6289-6291)ACC>TCC	p.T2097S		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	2097	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(7)|ovary(4)|lung(3)|central_nervous_system(2)|kidney(2)|breast(1)	19	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)						581				0.042945	-24.203355	12.320244	7	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120459056	120459056	10951	1	T	A	A	A	767	59	NOTCH2	3	3
ITGA10	8515	broad.mit.edu	37	1	145539419	145539419	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145539419G>T	uc001eoa.2	+	c.3088G>T	c.(3088-3090)GAG>TAG	p.E1030*	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Nonsense_Mutation_p.E899*|ITGA10_uc009wiw.2_Nonsense_Mutation_p.E887*|ITGA10_uc010oyw.1_Nonsense_Mutation_p.E975*	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	1030	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)									450				0.162791	13.295962	17.944772	7	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	145539419	145539419	8177	1	G	T	T	T	429	33	ITGA10	5	2
FLG	2312	broad.mit.edu	37	1	152280056	152280056	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152280056C>T	uc001ezu.1	-	c.7306G>A	c.(7306-7308)GGA>AGA	p.G2436R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2436	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.211712	100.870329	117.971121	47	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152280056	152280056	6160	1	C	T	T	T	273	21	FLG	2	2
FLG	2312	broad.mit.edu	37	1	152285231	152285231	+	Missense_Mutation	SNP	G	C	C	rs115087788	by1000genomes	TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152285231G>C	uc001ezu.1	-	c.2131C>G	c.(2131-2133)CGC>GGC	p.R711G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	711	Filaggrin 4.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.184906	89.820346	114.506255	49	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152285231	152285231	6160	1	G	C	C	C	507	39	FLG	3	3
KAZ	23254	broad.mit.edu	37	1	15420702	15420702	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15420702C>G	uc001avm.3	+	c.1249C>G	c.(1249-1251)CGG>GGG	p.R417G		NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	417					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0														0.148148	8.121507	11.297444	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15420702	15420702	8292	1	C	G	G	G	347	27	KAZ	3	3
KCNN3	3782	broad.mit.edu	37	1	154680678	154680678	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154680678C>A	uc001ffp.2	-	c.1970G>T	c.(1969-1971)GGC>GTC	p.G657V	KCNN3_uc001ffo.2_Missense_Mutation_p.G352V	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	662						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)											0.105263	10.885687	34.438523	16	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154680678	154680678	8385	1	C	A	A	A	338	26	KCNN3	2	2
PMVK	10654	broad.mit.edu	37	1	154901623	154901623	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154901623C>A	uc001ffq.2	-	c.189G>T	c.(187-189)CTG>CTT	p.L63L		NM_006556	NP_006547	Q15126	PMVK_HUMAN	phosphomevalonate kinase	63					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)											0.07	-2.887529	16.134934	7	93	KEEP	---	---	---	---	capture		Silent	SNP	154901623	154901623	12570	1	C	A	A	A	262	21	PMVK	2	2
ASH1L	55870	broad.mit.edu	37	1	155452241	155452241	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155452241C>A	uc009wqq.2	-	c.421_splice	c.e3-1	p.D141_splice	ASH1L_uc001fkt.2_Splice_Site_SNP_p.D141_splice|ASH1L_uc009wqr.1_Intron	NM_018489	NP_060959			absent, small, or homeotic 1-like						cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)											0.113636	10.983318	23.944653	10	78	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	155452241	155452241	1060	1	C	A	A	A	312	24	ASH1L	5	2
CD1B	910	broad.mit.edu	37	1	158300792	158300792	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158300792C>A	uc001frx.2	-	c.122G>T	c.(121-123)TGG>TTG	p.W41L	CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Missense_Mutation_p.W41L	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	41	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)													0.109589	58.222169	135.342295	56	455	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158300792	158300792	3102	1	C	A	A	A	273	21	CD1B	2	2
SPTA1	6708	broad.mit.edu	37	1	158622334	158622334	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158622334C>A	uc001fst.1	-	c.3298G>T	c.(3298-3300)GAG>TAG	p.E1100*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1100	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.086957	0.524666	16.423417	8	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158622334	158622334	15630	1	C	A	A	A	416	32	SPTA1	5	2
SPTA1	6708	broad.mit.edu	37	1	158622401	158622401	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158622401A>T	uc001fst.1	-	c.3231T>A	c.(3229-3231)CGT>CGA	p.R1077R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1077					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.186667	26.304763	33.206829	14	61	KEEP	---	---	---	---	capture		Silent	SNP	158622401	158622401	15630	1	A	T	T	T	119	10	SPTA1	3	3
OR6N1	128372	broad.mit.edu	37	1	158735699	158735699	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158735699C>A	uc010piq.1	-	c.774G>T	c.(772-774)ATG>ATT	p.M258I		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	258	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.139568	156.81844	244.041958	97	598	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158735699	158735699	11616	1	C	A	A	A	221	17	OR6N1	2	2
OR6N1	128372	broad.mit.edu	37	1	158736113	158736113	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158736113G>C	uc010piq.1	-	c.360C>G	c.(358-360)TAC>TAG	p.Y120*		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.230088	67.066241	74.65791	26	87	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158736113	158736113	11616	1	G	C	C	C	516	40	OR6N1	5	3
AIM2	9447	broad.mit.edu	37	1	159043057	159043057	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159043057G>T	uc001ftj.1	-	c.233C>A	c.(232-234)GCA>GAA	p.A78E		NM_004833	NP_004824	O14862	AIM2_HUMAN	absent in melanoma 2	78	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				ovary(2)|pancreas(1)	3	all_hematologic(112;0.0429)													0.073171	-2.214451	13.148527	6	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159043057	159043057	435	1	G	T	T	T	598	46	AIM2	2	2
VANGL2	57216	broad.mit.edu	37	1	160385651	160385651	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160385651G>T	uc001fwb.1	+	c.24G>T	c.(22-24)TCG>TCT	p.S8S	VANGL2_uc001fwc.1_Silent_p.S8S	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	8	Cytoplasmic (Potential).				apical protein localization|heart looping|sensory cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.096154	3.84596	12.340497	5	47	KEEP	---	---	---	---	capture		Silent	SNP	160385651	160385651	17685	1	G	T	T	T	496	39	VANGL2	1	1
SLAMF1	6504	broad.mit.edu	37	1	160604647	160604647	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160604647G>T	uc001fwl.3	-	c.456C>A	c.(454-456)ACC>ACA	p.T152T	SLAMF1_uc010pjk.1_Non-coding_Transcript|SLAMF1_uc010pjl.1_Non-coding_Transcript|SLAMF1_uc010pjm.1_Non-coding_Transcript	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	152	Ig-like C2-type.|Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)											0.105263	20.361822	52.67433	22	187	KEEP	---	---	---	---	capture		Silent	SNP	160604647	160604647	14862	1	G	T	T	T	548	43	SLAMF1	2	2
SLAMF1	6504	broad.mit.edu	37	1	160607008	160607008	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160607008G>A	uc001fwl.3	-	c.388C>T	c.(388-390)CGC>TGC	p.R130C	SLAMF1_uc010pjk.1_Non-coding_Transcript|SLAMF1_uc010pjl.1_Non-coding_Transcript|SLAMF1_uc010pjm.1_Non-coding_Transcript|SLAMF1_uc001fwm.2_Missense_Mutation_p.R130C	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	130	Extracellular (Potential).				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)											0.08046	1.813847	48.613784	21	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160607008	160607008	14862	1	G	A	A	A	494	38	SLAMF1	1	1
ITLN1	55600	broad.mit.edu	37	1	160851976	160851976	+	Missense_Mutation	SNP	C	A	A	rs117373725	by1000genomes	TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160851976C>A	uc001fxc.2	-	c.176G>T	c.(175-177)CGC>CTC	p.R59L		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	intelectin precursor	59	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.08	1.205007	14.6869	6	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160851976	160851976	8214	1	C	A	A	A	351	27	ITLN1	1	1
DCAF6	55827	broad.mit.edu	37	1	168014281	168014281	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:168014281A>G	uc001gex.2	+	c.2074A>G	c.(2074-2076)AGC>GGC	p.S692G	DCAF6_uc001gev.2_Missense_Mutation_p.S635G|DCAF6_uc001gew.2_Missense_Mutation_p.S615G|DCAF6_uc010plk.1_Missense_Mutation_p.S661G|DCAF6_uc001gey.2_Missense_Mutation_p.S488G|DCAF6_uc001gez.2_5'UTR	NM_018442	NP_060912	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform a	615					positive regulation of transcription from RNA polymerase II promoter|protein ubiquitination	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)	2														0.175676	60.168568	74.838268	26	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168014281	168014281	4445	1	A	G	G	G	195	15	DCAF6	4	4
SELE	6401	broad.mit.edu	37	1	169698456	169698456	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169698456G>A	uc001ggm.3	-	c.961C>T	c.(961-963)CCT>TCT	p.P321S	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	321	Extracellular (Potential).|Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)	3	all_hematologic(923;0.208)													0.147059	9.951468	14.020518	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169698456	169698456	14499	1	G	A	A	A	559	43	SELE	2	2
SCYL3	57147	broad.mit.edu	37	1	169823654	169823654	+	Silent	SNP	T	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169823654T>G	uc001ggs.2	-	c.1926A>C	c.(1924-1926)TCA>TCC	p.S642S	SCYL3_uc010plw.1_Silent_p.S234S|SCYL3_uc001ggt.2_Silent_p.S588S|SCYL3_uc001ggu.2_Non-coding_Transcript	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	642	Interaction with EZR.				cell migration|protein phosphorylation	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)									1996				0.133858	26.500172	43.010306	17	110	KEEP	---	---	---	---	capture		Silent	SNP	169823654	169823654	14434	1	T	G	G	G	756	59	SCYL3	4	4
FMO2	2327	broad.mit.edu	37	1	171168556	171168556	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171168556C>T	uc001ghk.1	+	c.556C>T	c.(556-558)CGC>TGC	p.R186C	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2	186					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)													0.06087	-9.417642	13.700906	7	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171168556	171168556	6197	1	C	T	T	T	247	19	FMO2	1	1
SERPINC1	462	broad.mit.edu	37	1	173879971	173879971	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173879971C>A	uc001gjt.2	-	c.683G>T	c.(682-684)GGC>GTC	p.G228V		NM_000488	NP_000479	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C, member 1	228					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(1)	1					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)									0.089552	-1.773834	9.63974	6	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173879971	173879971	14597	1	C	A	A	A	338	26	SERPINC1	2	2
TOR1AIP2	163590	broad.mit.edu	37	1	179815260	179815260	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179815260C>A	uc001gnk.2	-	c.1359G>T	c.(1357-1359)CTG>CTT	p.L453L	TOR1AIP2_uc001gnl.2_Silent_p.L453L	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	453						endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1														0.131579	8.246904	13.260704	5	33	KEEP	---	---	---	---	capture		Silent	SNP	179815260	179815260	16915	1	C	A	A	A	262	21	TOR1AIP2	2	2
RGL1	23179	broad.mit.edu	37	1	183874048	183874048	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183874048C>T	uc001gqm.2	+	c.1520C>T	c.(1519-1521)CCA>CTA	p.P507L	RGL1_uc010pof.1_Missense_Mutation_p.P277L|RGL1_uc010pog.1_Missense_Mutation_p.P470L|RGL1_uc010poh.1_Missense_Mutation_p.P470L|RGL1_uc001gqo.2_Missense_Mutation_p.P472L|RGL1_uc010poi.1_Missense_Mutation_p.P443L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	472	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			ovary(3)|breast(3)|lung(1)	7										871				0.159722	40.834188	56.723053	23	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183874048	183874048	13749	1	C	T	T	T	273	21	RGL1	2	2
C1orf25	81627	broad.mit.edu	37	1	185089281	185089281	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:185089281T>C	uc001grf.3	-	c.2072A>G	c.(2071-2073)TAC>TGC	p.Y691C	C1orf25_uc010pon.1_Missense_Mutation_p.Y535C	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	691						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0														0.076923	-0.30762	21.121288	9	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185089281	185089281	2108	1	T	C	C	C	741	57	C1orf25	4	4
KCNT2	343450	broad.mit.edu	37	1	196311306	196311306	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196311306C>T	uc001gtd.1	-	c.1456G>A	c.(1456-1458)GGG>AGG	p.G486R	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Missense_Mutation_p.G486R|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.2_Missense_Mutation_p.G486R|KCNT2_uc001gth.1_Missense_Mutation_p.G7R	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	486	Cytoplasmic (Potential).|RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.217949	42.041206	47.75477	17	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196311306	196311306	8397	1	C	T	T	T	299	23	KCNT2	1	1
F13B	2165	broad.mit.edu	37	1	197026148	197026148	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197026148C>A	uc001gtt.1	-	c.1166G>T	c.(1165-1167)TGT>TTT	p.C389F		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	389	Sushi 6.				blood coagulation	extracellular region				central_nervous_system(1)	1														0.178571	21.819019	27.262168	10	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197026148	197026148	5535	1	C	A	A	A	221	17	F13B	2	2
LAD1	3898	broad.mit.edu	37	1	201352445	201352445	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201352445C>A	uc001gwm.2	-	c.1248G>T	c.(1246-1248)CGG>CGT	p.R416R		NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	416						basement membrane	structural molecule activity				0														0.256831	117.944022	127.752045	47	136	KEEP	---	---	---	---	capture		Silent	SNP	201352445	201352445	8922	1	C	A	A	A	275	22	LAD1	2	2
LGR6	59352	broad.mit.edu	37	1	202279399	202279399	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202279399A>T	uc001gxu.2	+	c.1481A>T	c.(1480-1482)CAG>CTG	p.Q494L	LGR6_uc001gxv.2_Missense_Mutation_p.Q442L|LGR6_uc009xab.2_Non-coding_Transcript|LGR6_uc001gxw.2_Missense_Mutation_p.Q355L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	494	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|pancreas(1)	8														0.096386	6.337985	19.891563	8	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202279399	202279399	9084	1	A	T	T	T	91	7	LGR6	3	3
PRELP	5549	broad.mit.edu	37	1	203452708	203452708	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203452708C>A	uc001gzs.2	+	c.396C>A	c.(394-396)AAC>AAA	p.N132K	PRELP_uc001gzt.2_Missense_Mutation_p.N132K	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	132	LRR 2.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(1)|central_nervous_system(1)|pancreas(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.109)											0.085106	-0.206789	24.423055	12	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203452708	203452708	12916	1	C	A	A	A	233	18	PRELP	2	2
LAX1	54900	broad.mit.edu	37	1	203740013	203740013	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203740013C>A	uc001haa.2	+	c.147C>A	c.(145-147)CTC>CTA	p.L49L	LAX1_uc010pql.1_Silent_p.L33L|LAX1_uc001hab.2_5'UTR	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	49	Helical; Signal-anchor for type III membrane protein; (Potential).				B cell activation|immune response|inactivation of MAPK activity|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.105263	8.012708	25.676361	12	102	KEEP	---	---	---	---	capture		Silent	SNP	203740013	203740013	8971	1	C	A	A	A	379	30	LAX1	2	2
NFASC	23114	broad.mit.edu	37	1	204924001	204924001	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204924001C>A	uc001hbj.2	+	c.457C>A	c.(457-459)CAA>AAA	p.Q153K	NFASC_uc001hbh.2_Missense_Mutation_p.Q153K|NFASC_uc010pqz.1_Missense_Mutation_p.Q147K|NFASC_uc010pra.1_Missense_Mutation_p.Q147K|NFASC_uc001hbi.2_Missense_Mutation_p.Q147K|NFASC_uc009xbg.1_Missense_Mutation_p.Q220K|NFASC_uc010prb.1_Missense_Mutation_p.Q147K|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_5'Flank	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	153	Extracellular (Potential).|Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)											0.071429	-10.016897	37.625959	18	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204924001	204924001	10759	1	C	A	A	A	273	21	NFASC	2	2
KCNH1	3756	broad.mit.edu	37	1	210971035	210971035	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:210971035T>A	uc001hib.2	-	c.1730A>T	c.(1729-1731)AAG>ATG	p.K577M	KCNH1_uc001hic.2_Missense_Mutation_p.K550M	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	577	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)										0.088889	1.972375	9.64904	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210971035	210971035	8336	1	T	A	A	A	728	56	KCNH1	3	3
USH2A	7399	broad.mit.edu	37	1	216373253	216373253	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216373253G>A	uc001hku.1	-	c.3527C>T	c.(3526-3528)TCT>TTT	p.S1176F	USH2A_uc001hkv.2_Missense_Mutation_p.S1176F	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1176	Extracellular (Potential).|Fibronectin type-III 2.				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)										0.060109	-12.629364	24.396281	11	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216373253	216373253	17598	1	G	A	A	A	429	33	USH2A	2	2
URB2	9816	broad.mit.edu	37	1	229772365	229772365	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229772365C>A	uc001hts.1	+	c.2005C>A	c.(2005-2007)CTT>ATT	p.L669I	URB2_uc009xfd.1_Missense_Mutation_p.L669I	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	669						nucleolus				central_nervous_system(2)|ovary(1)	3										340				0.135484	31.267804	51.224907	21	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229772365	229772365	17587	1	C	A	A	A	416	32	URB2	2	2
PGBD5	79605	broad.mit.edu	37	1	230472853	230472853	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230472853C>T	uc001htv.2	-	c.1165_splice	c.e6+1	p.G389_splice	PGBD5_uc010pwb.1_Splice_Site_SNP_p.G290_splice	NM_024554	NP_078830			piggyBac transposable element derived 5							integral to membrane				ovary(2)|central_nervous_system(1)	3	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)										0.150538	22.388165	33.275353	14	79	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	230472853	230472853	12207	1	C	T	T	T	234	18	PGBD5	5	2
SIPA1L2	57568	broad.mit.edu	37	1	232561520	232561520	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232561520G>A	uc001hvg.2	-	c.4445C>T	c.(4444-4446)TCG>TTG	p.S1482L	SIPA1L2_uc001hvf.2_Missense_Mutation_p.S556L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1482					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)												0.063492	-3.736606	8.74329	4	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232561520	232561520	14825	1	G	A	A	A	481	37	SIPA1L2	1	1
NID1	4811	broad.mit.edu	37	1	236148782	236148782	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236148782G>A	uc001hxo.2	-	c.2952C>T	c.(2950-2952)GCC>GCT	p.A984A	NID1_uc009xgd.2_Silent_p.A851A|NID1_uc009xgc.2_Silent_p.A70A	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	984					bioluminescence|cell-matrix adhesion|protein-chromophore linkage	basement membrane|membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)									0.087912	3.378638	18.962333	8	83	KEEP	---	---	---	---	capture		Silent	SNP	236148782	236148782	10815	1	G	A	A	A	444	35	NID1	2	2
RYR2	6262	broad.mit.edu	37	1	237754274	237754274	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237754274C>A	uc001hyl.1	+	c.4142C>A	c.(4141-4143)CCC>CAC	p.P1381H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1381	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.277778	60.04059	64.038109	25	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237754274	237754274	14249	1	C	A	A	A	286	22	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237886437	237886437	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237886437C>A	uc001hyl.1	+	c.10564C>A	c.(10564-10566)CCT>ACT	p.P3522T	RYR2_uc010pxz.1_Missense_Mutation_p.P477T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3522					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.322695	243.509093	251.389872	91	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237886437	237886437	14249	1	C	A	A	A	390	30	RYR2	2	2
FH	2271	broad.mit.edu	37	1	241675424	241675424	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241675424T>C	uc001hyx.2	-	c.398A>G	c.(397-399)AAT>AGT	p.N133S		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	133					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)	4	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		Melanoma(148;1573 2486 7381 46575)				119				0.059603	-8.031035	22.587286	9	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241675424	241675424	6112	1	T	C	C	C	676	52	FH	4	4
PPPDE1	51029	broad.mit.edu	37	1	244855205	244855205	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:244855205G>T	uc001iao.2	+	c.234G>T	c.(232-234)ACG>ACT	p.T78T	PPPDE1_uc001iap.2_Silent_p.T45T	NM_016076	NP_057160	Q9BSY9	PPDE1_HUMAN	PPPDE peptidase domain containing 1	78	PPPDE peptidase.									breast(3)	3														0.061538	-4.049969	8.986277	4	61	KEEP	---	---	---	---	capture		Silent	SNP	244855205	244855205	12844	1	G	T	T	T	496	39	PPPDE1	1	1
HNRNPU	3192	broad.mit.edu	37	1	245023681	245023681	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:245023681C>T	uc001iaz.1	-	c.973G>A	c.(973-975)GCA>ACA	p.A325T	HNRNPU_uc001iaw.1_5'Flank|HNRNPU_uc001iax.1_Non-coding_Transcript|HNRNPU_uc001iay.1_Missense_Mutation_p.A49T|HNRNPU_uc001iba.1_Missense_Mutation_p.A306T|HNRNPU_uc001ibb.1_Missense_Mutation_p.A13T	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	325	B30.2/SPRY.				cell killing|CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			NSCLC(33;911 1010 3329 23631 49995)								0.131579	8.149122	13.161144	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	245023681	245023681	7565	1	C	T	T	T	364	28	HNRNPU	2	2
KIF26B	55083	broad.mit.edu	37	1	245530526	245530526	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:245530526C>A	uc001ibf.1	+	c.856C>A	c.(856-858)CAC>AAC	p.H286N	KIF26B_uc010pyq.1_Missense_Mutation_p.H286N|KIF26B_uc010pyr.1_Missense_Mutation_p.H86N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	286					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)											0.444444	12.601509	12.625189	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	245530526	245530526	8606	1	C	A	A	A	273	21	KIF26B	2	2
SMYD3	64754	broad.mit.edu	37	1	246021924	246021924	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:246021924G>A	uc001ibl.2	-	c.950C>T	c.(949-951)TCT>TTT	p.S317F	SMYD3_uc001ibk.2_Missense_Mutation_p.S258F|SMYD3_uc001ibi.2_Missense_Mutation_p.S128F|SMYD3_uc001ibj.2_Missense_Mutation_p.S128F	NM_022743	NP_073580	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	317						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding				0	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)										0.058537	-14.952779	26.890457	12	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	246021924	246021924	15323	1	G	A	A	A	429	33	SMYD3	2	2
OR1C1	26188	broad.mit.edu	37	1	247920915	247920915	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247920915G>A	uc010pza.1	-	c.794C>T	c.(793-795)CCC>CTC	p.P265L		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.272189	126.424208	134.300961	46	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247920915	247920915	11358	1	G	A	A	A	559	43	OR1C1	2	2
OR1C1	26188	broad.mit.edu	37	1	247921140	247921140	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247921140G>T	uc010pza.1	-	c.569C>A	c.(568-570)TCT>TAT	p.S190Y		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	190	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.062016	-10.909483	14.908305	8	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247921140	247921140	11358	1	G	T	T	T	429	33	OR1C1	2	2
TRIM58	25893	broad.mit.edu	37	1	248028134	248028134	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248028134T>C	uc001ido.2	+	c.644T>C	c.(643-645)CTG>CCG	p.L215P		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	215	Potential.					intracellular	zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.428571	15.044232	15.107129	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248028134	248028134	17077	1	T	C	C	C	715	55	TRIM58	4	4
OR2L2	26246	broad.mit.edu	37	1	248201766	248201766	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248201766C>A	uc001idw.2	+	c.197C>A	c.(196-198)TCC>TAC	p.S66Y	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	66	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)											0.292343	319.614615	336.24096	126	305	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248201766	248201766	11413	1	C	A	A	A	390	30	OR2L2	2	2
EYA3	2140	broad.mit.edu	37	1	28337580	28337580	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:28337580G>A	uc001bpi.1	-	c.787C>T	c.(787-789)CCA>TCA	p.P263S	EYA3_uc010ofs.1_Missense_Mutation_p.P210S|EYA3_uc010oft.1_Missense_Mutation_p.P217S|EYA3_uc001bpj.2_Missense_Mutation_p.P217S|EYA3_uc001bpk.1_Non-coding_Transcript|EYA3_uc010ofu.1_Non-coding_Transcript	NM_001990	NP_001981	Q99504	EYA3_HUMAN	eyes absent 3	263					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			ovary(2)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)										0.103448	5.706594	14.787656	6	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28337580	28337580	5524	1	G	A	A	A	533	41	EYA3	2	2
GMEB1	10691	broad.mit.edu	37	1	29037128	29037128	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29037128A>T	uc001bra.2	+	c.995A>T	c.(994-996)GAA>GTA	p.E332V	GMEB1_uc001bqz.2_Missense_Mutation_p.E322V|GMEB1_uc001brb.2_Missense_Mutation_p.E322V	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	332	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)										0.089888	-0.575146	14.560823	8	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29037128	29037128	6756	1	A	T	T	T	117	9	GMEB1	3	3
TMEM39B	55116	broad.mit.edu	37	1	32542848	32542848	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32542848G>T	uc001bue.3	+	c.519G>T	c.(517-519)TGG>TGT	p.W173C	TMEM39B_uc010ogt.1_Intron|TMEM39B_uc010ogu.1_Missense_Mutation_p.W46C|TMEM39B_uc010ogv.1_Missense_Mutation_p.W173C|TMEM39B_uc001buf.3_Intron|TMEM39B_uc010ogw.1_Intron	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	173	Helical; (Potential).					integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)												0.085106	-1.171418	23.425281	12	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32542848	32542848	16701	1	G	T	T	T	533	41	TMEM39B	2	2
ZMYM6	9204	broad.mit.edu	37	1	35480591	35480591	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35480591C>A	uc001byh.2	-	c.601G>T	c.(601-603)GAT>TAT	p.D201Y	ZMYM6_uc001byf.1_Missense_Mutation_p.D201Y|ZMYM6_uc010oht.1_Missense_Mutation_p.D104Y|ZMYM6_uc009vup.2_Missense_Mutation_p.D7Y|ZMYM6_uc009vuq.1_Missense_Mutation_p.D201Y|ZMYM6_uc009vur.1_Missense_Mutation_p.D7Y	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	201	MYM-type 2.				multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)												0.15	10.62181	15.320894	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35480591	35480591	18295	1	C	A	A	A	377	29	ZMYM6	2	2
MACF1	23499	broad.mit.edu	37	1	39812816	39812816	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39812816G>T	uc010oiu.1	+	c.6069G>T	c.(6067-6069)CAG>CAT	p.Q2023H	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1524	Spectrin 7.|Potential.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.15625	33.811868	48.257357	20	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39812816	39812816	9521	1	G	T	T	T	425	33	MACF1	2	2
CYP4B1	1580	broad.mit.edu	37	1	47282821	47282821	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47282821T>A	uc001cqn.3	+	c.1175T>A	c.(1174-1176)GTC>GAC	p.V392D	CYP4B1_uc001cqm.3_Missense_Mutation_p.V391D|CYP4B1_uc009vym.2_Missense_Mutation_p.V377D|CYP4B1_uc010omk.1_Missense_Mutation_p.V228D	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	391					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.162791	12.102041	16.746696	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47282821	47282821	4350	1	T	A	A	A	754	58	CYP4B1	3	3
C1orf175	374977	broad.mit.edu	37	1	55148346	55148346	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55148346G>C	uc010ooe.1	+	c.2399G>C	c.(2398-2400)TGG>TCG	p.W800S	C1orf175_uc001cxq.2_Non-coding_Transcript|C1orf175_uc010ooc.1_Missense_Mutation_p.W368S|C1orf175_uc001cxs.2_Non-coding_Transcript|C1orf175_uc010ood.1_Missense_Mutation_p.W318S|C1orf175_uc010oof.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc010oog.1_Missense_Mutation_p.W800S|C1orf175_uc010ooh.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Intron|C1orf175_uc001cxt.1_Non-coding_Transcript|C1orf175_uc009vzr.1_Missense_Mutation_p.W2S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	800						integral to membrane	binding				0														0.077586	-3.864009	17.285433	9	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55148346	55148346	2083	1	G	C	C	C	611	47	C1orf175	3	3
C8A	731	broad.mit.edu	37	1	57373737	57373737	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57373737G>T	uc001cyo.2	+	c.1331G>T	c.(1330-1332)CGT>CTT	p.R444L		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	444	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)	2														0.258621	39.509549	42.563767	15	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57373737	57373737	2525	1	G	T	T	T	520	40	C8A	1	1
DOCK7	85440	broad.mit.edu	37	1	62939744	62939744	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62939744C>A	uc001daq.2	-	c.6088G>T	c.(6088-6090)GCC>TCC	p.A2030S	DOCK7_uc001dan.2_Missense_Mutation_p.A1893S|DOCK7_uc001dao.2_Missense_Mutation_p.A1891S|DOCK7_uc001dap.2_Missense_Mutation_p.A2010S|DOCK7_uc001dam.2_Missense_Mutation_p.A1212S|DOCK7_uc010oov.1_Missense_Mutation_p.A771S|DOCK7_uc001dar.1_Missense_Mutation_p.A204S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2041	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.125	8.619566	15.211078	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62939744	62939744	4876	1	C	A	A	A	325	25	DOCK7	2	2
FOXD3	27022	broad.mit.edu	37	1	63789348	63789348	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:63789348G>T	uc001dax.2	+	c.619G>T	c.(619-621)GGC>TGC	p.G207C		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	207	Fork-head.			GNPG -> ATRP (in Ref. 3; AAK13574).	axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						Pancreas(68;276 1750 11966 31252)								0.111111	8.334457	20.430998	9	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63789348	63789348	6240	1	G	T	T	T	559	43	FOXD3	2	2
WDR78	79819	broad.mit.edu	37	1	67299719	67299719	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67299719C>A	uc001dcx.2	-	c.1846G>T	c.(1846-1848)GGA>TGA	p.G616*	WDR78_uc009waw.2_Nonsense_Mutation_p.G362*|WDR78_uc009wax.2_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	616	WD 2.									ovary(2)	2														0.106667	8.546415	20.06261	8	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	67299719	67299719	17901	1	C	A	A	A	273	21	WDR78	5	2
WDR78	79819	broad.mit.edu	37	1	67390500	67390500	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67390500T>A	uc001dcx.2	-	c.15A>T	c.(13-15)AAA>AAT	p.K5N	WDR78_uc001dcy.2_Missense_Mutation_p.K5N|WDR78_uc001dcz.2_Missense_Mutation_p.K5N|MIER1_uc001dda.3_5'Flank|MIER1_uc010opf.1_5'Flank|MIER1_uc009way.2_5'Flank|MIER1_uc001ddc.2_5'Flank|MIER1_uc001ddh.2_5'Flank|MIER1_uc001ddf.2_5'Flank|MIER1_uc001ddg.2_5'Flank|MIER1_uc010opg.1_5'Flank|MIER1_uc001dde.2_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	5										ovary(2)	2														0.0875	1.503929	15.241952	7	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67390500	67390500	17901	1	T	A	A	A	777	60	WDR78	3	3
DEPDC1	55635	broad.mit.edu	37	1	68954103	68954103	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:68954103C>A	uc001dem.3	-	c.675G>T	c.(673-675)ATG>ATT	p.M225I	DEPDC1_uc001dek.3_Non-coding_Transcript|DEPDC1_uc001del.3_Missense_Mutation_p.M225I	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	225					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding|transcription repressor activity				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)										0.0625	-4.055721	8.715438	4	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68954103	68954103	4618	1	C	A	A	A	273	21	DEPDC1	2	2
LRRC7	57554	broad.mit.edu	37	1	70225942	70225942	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70225942G>T	uc001dep.2	+	c.55G>T	c.(55-57)GGT>TGT	p.G19C	LRRC7_uc001deo.1_Missense_Mutation_p.G57C|LRRC7_uc009wbg.2_De_novo_Start_OutOfFrame	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	19						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.193878	41.968657	50.537675	19	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70225942	70225942	9396	1	G	T	T	T	455	35	LRRC7	2	2
C1orf173	127254	broad.mit.edu	37	1	75102078	75102078	+	Silent	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75102078T>C	uc001dgg.2	-	c.489A>G	c.(487-489)CCA>CCG	p.P163P	C1orf173_uc001dgi.3_5'Flank	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	163										ovary(3)|central_nervous_system(1)	4														0.159722	113.065975	160.774273	69	363	KEEP	---	---	---	---	capture		Silent	SNP	75102078	75102078	2081	1	T	C	C	C	808	63	C1orf173	4	4
ST6GALNAC5	81849	broad.mit.edu	37	1	77528766	77528766	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:77528766C>A	uc001dhi.2	+	c.886C>A	c.(886-888)CGC>AGC	p.R296S	ST6GALNAC5_uc010ori.1_3'UTR|ST6GALNAC5_uc009wbw.2_Non-coding_Transcript|ST6GALNAC5_uc001dhj.2_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	296	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)	1														0.18232	73.778933	90.924673	33	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77528766	77528766	15745	1	C	A	A	A	299	23	ST6GALNAC5	1	1
CAMTA1	23261	broad.mit.edu	37	1	7797434	7797434	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7797434G>T	uc001aoi.2	+	c.3462G>T	c.(3460-3462)CGG>CGT	p.R1154R	CAMTA1_uc010nzv.1_Silent_p.R241R|CAMTA1_uc001aok.3_Silent_p.R197R|CAMTA1_uc001aoj.2_Silent_p.R110R	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1154	ANK 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding|transcription regulator activity			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)										0.102273	7.608335	21.487866	9	79	KEEP	---	---	---	---	capture		Silent	SNP	7797434	7797434	2730	1	G	T	T	T	548	43	CAMTA1	2	2
ZZZ3	26009	broad.mit.edu	37	1	78097874	78097874	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78097874C>A	uc001dhq.2	-	c.1166G>T	c.(1165-1167)AGA>ATA	p.R389I	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.R389I|ZZZ3_uc001dhp.2_Missense_Mutation_p.R389I	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5														0.072917	-3.152614	14.860174	7	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78097874	78097874	18862	1	C	A	A	A	416	32	ZZZ3	2	2
ELTD1	64123	broad.mit.edu	37	1	79387376	79387376	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:79387376G>C	uc001diq.3	-	c.1179C>G	c.(1177-1179)TAC>TAG	p.Y393*		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	393	GPS.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)	1				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)										0.139535	20.911905	31.647725	12	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	79387376	79387376	5276	1	G	C	C	C	464	36	ELTD1	5	3
CLCA4	22802	broad.mit.edu	37	1	87029453	87029453	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:87029453G>T	uc009wcs.2	+	c.557_splice	c.e4+1	p.R186_splice	CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron	NM_012128	NP_036260			chloride channel accessory 4							apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)										0.190476	16.373053	20.137222	8	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	87029453	87029453	3595	1	G	T	T	T	546	42	CLCA4	5	2
ZNF133	7692	broad.mit.edu	37	20	18296740	18296740	+	Silent	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18296740T>C	uc010zrv.1	+	c.1254T>C	c.(1252-1254)TGT>TGC	p.C418C	ZNF133_uc010gcq.2_Silent_p.C415C|ZNF133_uc010zrw.1_Silent_p.C352C|ZNF133_uc010gcr.2_Silent_p.C415C|ZNF133_uc010zrx.1_Silent_p.C320C|ZNF133_uc002wql.3_Silent_p.C414C|ZNF133_uc010gcs.2_Silent_p.C414C|ZNF133_uc010zry.1_Silent_p.C320C|ZNF133_uc002wqm.2_Silent_p.C415C	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	415	C2H2-type 8.				regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2														0.043243	-29.036487	12.355511	8	177	KEEP	---	---	---	---	capture		Silent	SNP	18296740	18296740	18314	20	T	C	C	C	764	59	ZNF133	4	4
CSTL1	128817	broad.mit.edu	37	20	23420907	23420907	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23420907G>T	uc002wte.2	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I	CSTL1_uc010zsu.1_Non-coding_Transcript|CSTL1_uc010zsv.1_Non-coding_Transcript	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	cystatin-like 1 precursor	1						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0993)|Lung NSC(19;0.235)													0.082192	0.095347	13.063698	6	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23420907	23420907	4128	20	G	T	T	T	611	47	CSTL1	2	2
C20orf141	128653	broad.mit.edu	37	20	2795885	2795885	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2795885C>A	uc010gat.2	+	c.55C>A	c.(55-57)CCT>ACT	p.P19T	C20orf141_uc002wgv.1_Missense_Mutation_p.P19T|C20orf141_uc002wgw.2_Missense_Mutation_p.P19T	NM_080739	NP_542777	Q9NUB4	CT141_HUMAN	hypothetical protein LOC128653	19						integral to membrane					0														0.116883	7.720656	18.849371	9	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2795885	2795885	2166	20	C	A	A	A	390	30	C20orf141	2	2
DUSP15	128853	broad.mit.edu	37	20	30436608	30436608	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30436608C>T	uc002wwu.1	-	c.726_splice	c.e9+1	p.D242_splice		DUSP15				RecName: Full=Dual specificity protein phosphatase 15;          EC=3.1.3.48;          EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y;							cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.230769	7.226488	8.084265	3	10	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	30436608	30436608	5000	20	C	T	T	T	235	19	DUSP15	5	1
ASXL1	171023	broad.mit.edu	37	20	31024005	31024005	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31024005G>T	uc002wxs.2	+	c.3490G>T	c.(3490-3492)GGA>TGA	p.G1164*	ASXL1_uc010geb.2_Nonsense_Mutation_p.G1055*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1164					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(131)|large_intestine(6)|central_nervous_system(2)|ovary(1)	140														0.175439	17.477897	23.208087	10	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31024005	31024005	1085	20	G	T	T	T	611	47	ASXL1	5	2
MYH7B	57644	broad.mit.edu	37	20	33568395	33568395	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33568395C>T	uc002xbi.1	+	c.483C>T	c.(481-483)CTC>CTT	p.L161L	MYH7B_uc010gfa.1_Silent_p.L119L	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	119	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)											0.133047	48.360362	78.820948	31	202	KEEP	---	---	---	---	capture		Silent	SNP	33568395	33568395	10435	20	C	T	T	T	405	32	MYH7B	2	2
C20orf117	140710	broad.mit.edu	37	20	35422925	35422925	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35422925C>A	uc002xgd.1	-	c.2846G>T	c.(2845-2847)CGG>CTG	p.R949L	C20orf117_uc002xge.1_Non-coding_Transcript	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	949											0		Myeloproliferative disorder(115;0.00874)												0.141176	18.250839	28.804872	12	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35422925	35422925	2159	20	C	A	A	A	299	23	C20orf117	1	1
ATRN	8455	broad.mit.edu	37	20	3542927	3542927	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3542927G>A	uc002wim.2	+	c.1452G>A	c.(1450-1452)AAG>AAA	p.K484K	ATRN_uc002wil.2_Silent_p.K484K	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	484	Extracellular (Potential).|Kelch 3.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2														0.134454	49.511442	80.423406	32	206	KEEP	---	---	---	---	capture		Silent	SNP	3542927	3542927	1225	20	G	A	A	A	425	33	ATRN	2	2
PTPRT	11122	broad.mit.edu	37	20	40980818	40980818	+	Silent	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40980818C>G	uc010ggj.2	-	c.1668G>C	c.(1666-1668)CTG>CTC	p.L556L	PTPRT_uc002xkg.2_Silent_p.L556L	NM_133170	NP_573400	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	556	Extracellular (Potential).|Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.153061	28.337284	39.672601	15	83	KEEP	---	---	---	---	capture		Silent	SNP	40980818	40980818	13270	20	C	G	G	G	210	17	PTPRT	3	3
DDX27	55661	broad.mit.edu	37	20	47852730	47852730	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47852730G>T	uc002xuh.2	+	c.1564G>T	c.(1564-1566)GTG>TTG	p.V522L		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	522	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)											0.15625	8.155111	11.766309	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47852730	47852730	4525	20	G	T	T	T	624	48	DDX27	2	2
MC3R	4159	broad.mit.edu	37	20	54824388	54824388	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:54824388C>T	uc002xxb.2	+	c.489C>T	c.(487-489)ACC>ACT	p.T163T		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	200	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)	2			Colorectal(105;0.202)											0.163265	66.115922	87.201486	32	164	KEEP	---	---	---	---	capture		Silent	SNP	54824388	54824388	9754	20	C	T	T	T	301	24	MC3R	2	2
ZNF831	128611	broad.mit.edu	37	20	57768030	57768030	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57768030T>A	uc002yan.2	+	c.1956T>A	c.(1954-1956)AGT>AGA	p.S652R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	652						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.232877	45.340301	50.10683	17	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57768030	57768030	18784	20	T	A	A	A	764	59	ZNF831	3	3
GRIK1	2897	broad.mit.edu	37	21	30959722	30959722	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30959722C>A	uc011acs.1	-	c.1757G>T	c.(1756-1758)TGC>TTC	p.C586F	GRIK1_uc002ynn.2_Missense_Mutation_p.C571F|GRIK1_uc011act.1_Missense_Mutation_p.C447F|GRIK1_uc002yno.1_Missense_Mutation_p.C586F|GRIK1_uc010glq.1_Missense_Mutation_p.C429F	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	586	Helical; (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|Topiramate(DB00273)					608				0.1875	26.096992	31.923974	12	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30959722	30959722	7052	21	C	A	A	A	325	25	GRIK1	2	2
GRIK1	2897	broad.mit.edu	37	21	30959845	30959845	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30959845G>T	uc011acs.1	-	c.1634C>A	c.(1633-1635)TCC>TAC	p.S545Y	GRIK1_uc002ynn.2_Missense_Mutation_p.S530Y|GRIK1_uc011act.1_Missense_Mutation_p.S406Y|GRIK1_uc002yno.1_Missense_Mutation_p.S545Y|GRIK1_uc010glq.1_Missense_Mutation_p.S388Y	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	545	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|Topiramate(DB00273)					608				0.253731	39.24435	42.933303	17	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30959845	30959845	7052	21	G	T	T	T	533	41	GRIK1	2	2
KRTAP19-6	337973	broad.mit.edu	37	21	31914010	31914010	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31914010C>A	uc002yok.1	-	c.143G>T	c.(142-144)TGC>TTC	p.C48F		NM_181612	NP_853643	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	48						intermediate filament					0														0.137405	50.890825	84.290196	36	226	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31914010	31914010	8848	21	C	A	A	A	325	25	KRTAP19-6	2	2
TIAM1	7074	broad.mit.edu	37	21	32639193	32639193	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32639193G>A	uc002yow.1	-	c.96C>T	c.(94-96)CTC>CTT	p.L32L	TIAM1_uc011adk.1_Silent_p.L32L|TIAM1_uc011adl.1_Silent_p.L32L|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	32					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.128205	6.846241	12.101313	5	34	KEEP	---	---	---	---	capture		Silent	SNP	32639193	32639193	16418	21	G	A	A	A	418	33	TIAM1	2	2
CLIC6	54102	broad.mit.edu	37	21	36080997	36080998	+	Splice_Site_DNP	DNP	GG	TT	TT			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:36080997_36080998GG>TT	uc010gmt.1	+	c.1665_splice	c.e5-1	p.R555_splice	CLIC6_uc002yuf.1_Splice_Site_DNP_p.R537_splice	NM_053277	NP_444507			chloride intracellular channel 6							chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2														0.155556	11.192216	16.296234	7	38	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	36080997	36080998	3668	21	GG	TT	TT	TT	455	35	CLIC6	5	2
HPS4	89781	broad.mit.edu	37	22	26854422	26854422	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26854422C>A	uc003acl.2	-	c.1835G>T	c.(1834-1836)AGC>ATC	p.S612I	HPS4_uc003aci.2_Missense_Mutation_p.S607I|HPS4_uc003acj.2_Missense_Mutation_p.S476I|HPS4_uc003ack.2_Missense_Mutation_p.S403I|HPS4_uc003acn.2_Missense_Mutation_p.S458I|HPS4_uc003ach.2_Missense_Mutation_p.S347I	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	612					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0														0.096154	2.335835	10.841262	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26854422	26854422	7633	22	C	A	A	A	364	28	HPS4	2	2
EFCAB6	64800	broad.mit.edu	37	22	43926768	43926768	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:43926768C>A	uc003bdy.1	-	c.4310G>T	c.(4309-4311)AGG>ATG	p.R1437M	EFCAB6_uc003bdz.1_Missense_Mutation_p.R1285M|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1285M	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1437	Interaction with AR.|EF-hand 16.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|pancreas(1)	4		Ovarian(80;0.0247)|all_neural(38;0.025)												0.148148	12.561791	18.983286	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43926768	43926768	5126	22	C	A	A	A	312	24	EFCAB6	2	2
GRAMD4	23151	broad.mit.edu	37	22	47022737	47022737	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:47022737A>C	uc003bhx.2	+	c.41A>C	c.(40-42)AAG>ACG	p.K14T		NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	14					apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)										0.068182	-1.509704	6.977134	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47022737	47022737	7028	22	A	C	C	C	39	3	GRAMD4	4	4
TUBGCP6	85378	broad.mit.edu	37	22	50656172	50656172	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50656172T>A	uc003bkb.1	-	c.5453A>T	c.(5452-5454)GAC>GTC	p.D1818V	TUBGCP6_uc003bka.1_Missense_Mutation_p.D888V|TUBGCP6_uc010har.1_Missense_Mutation_p.D1810V|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1818					G2/M transition of mitotic cell cycle|microtubule nucleation	cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)										0.3	7.62099	7.978468	3	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50656172	50656172	17325	22	T	A	A	A	754	58	TUBGCP6	3	3
TUBGCP6	85378	broad.mit.edu	37	22	50656174	50656174	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50656174C>T	uc003bkb.1	-	c.5451G>A	c.(5449-5451)CAG>CAA	p.Q1817Q	TUBGCP6_uc003bka.1_Silent_p.Q887Q|TUBGCP6_uc010har.1_Silent_p.Q1809Q|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1817					G2/M transition of mitotic cell cycle|microtubule nucleation	cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)										0.3	8.821012	9.178426	3	7	KEEP	---	---	---	---	capture		Silent	SNP	50656174	50656174	17325	22	C	T	T	T	311	24	TUBGCP6	2	2
NPAS2	4862	broad.mit.edu	37	2	101541645	101541645	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101541645C>A	uc010yvt.1	+	c.265C>A	c.(265-267)CAG>AAG	p.Q89K	NPAS2_uc002tap.1_Missense_Mutation_p.Q24K	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	24	Helix-loop-helix motif.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription regulator activity			ovary(3)	3														0.178295	46.408576	58.931025	23	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101541645	101541645	10967	2	C	A	A	A	273	21	NPAS2	2	2
C2orf29	55571	broad.mit.edu	37	2	101879006	101879006	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:101879006C>T	uc002taw.3	+	c.685C>T	c.(685-687)CAA>TAA	p.Q229*		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	229					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5														0.148148	29.326199	42.163982	16	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101879006	101879006	2249	2	C	T	T	T	273	21	C2orf29	5	2
MERTK	10461	broad.mit.edu	37	2	112767571	112767571	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:112767571A>T	uc002thk.1	+	c.2007A>T	c.(2005-2007)GTA>GTT	p.V669V	MERTK_uc002thl.1_Silent_p.V493V	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	669	Protein kinase.|Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration|protein phosphorylation|visual perception	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|kidney(1)	6										602				0.144928	30.208458	46.953661	20	118	KEEP	---	---	---	---	capture		Silent	SNP	112767571	112767571	9868	2	A	T	T	T	158	13	MERTK	3	3
ZC3H6	376940	broad.mit.edu	37	2	113081964	113081964	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113081964G>C	uc002thq.1	+	c.1576G>C	c.(1576-1578)GTA>CTA	p.V526L		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	526	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4														0.220588	37.787206	42.676492	15	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113081964	113081964	18159	2	G	C	C	C	624	48	ZC3H6	3	3
BIN1	274	broad.mit.edu	37	2	127826587	127826587	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:127826587C>A	uc002tns.1	-	c.432G>T	c.(430-432)GGG>GGT	p.G144G	BIN1_uc010yzf.1_Silent_p.G120G|BIN1_uc010yzg.1_Silent_p.G144G|BIN1_uc002tnu.1_Silent_p.G144G|BIN1_uc002toa.1_Silent_p.G144G|BIN1_uc002tnt.1_Silent_p.G144G|BIN1_uc002tnv.1_Silent_p.G144G|BIN1_uc002tnw.1_Silent_p.G144G|BIN1_uc002tnx.1_Silent_p.G144G|BIN1_uc002tny.1_Silent_p.G144G|BIN1_uc002tnz.1_Silent_p.G144G|BIN1_uc002tob.1_Silent_p.G144G|BIN1_uc002toc.1_Silent_p.G144G	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	144	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|lung(1)|skin(1)	6	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)										0.137931	2.885895	6.571775	4	25	KEEP	---	---	---	---	capture		Silent	SNP	127826587	127826587	1457	2	C	A	A	A	327	26	BIN1	2	2
IWS1	55677	broad.mit.edu	37	2	128252491	128252491	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128252491T>C	uc002ton.2	-	c.1756A>G	c.(1756-1758)AAA>GAA	p.K586E	IWS1_uc010yzl.1_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	586						nucleus	DNA binding|transcription regulator activity			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)										0.202703	39.385844	45.457641	15	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128252491	128252491	8235	2	T	C	C	C	806	62	IWS1	4	4
MYO7B	4648	broad.mit.edu	37	2	128367139	128367139	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128367139C>A	uc002top.2	+	c.2873C>A	c.(2872-2874)GCG>GAG	p.A958E		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	958						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)										0.12	3.707689	7.249021	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128367139	128367139	10478	2	C	A	A	A	351	27	MYO7B	1	1
POTEE	445582	broad.mit.edu	37	2	131976004	131976004	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131976004C>T	uc002tsn.2	+	c.29C>T	c.(28-30)GCT>GTT	p.A10V	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	10							ATP binding				0														0.276596	29.349987	31.465878	13	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131976004	131976004	12694	2	C	T	T	T	364	28	POTEE	2	2
RAB3GAP1	22930	broad.mit.edu	37	2	135881795	135881795	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135881795G>T	uc010fnf.2	+	c.809G>T	c.(808-810)GGT>GTT	p.G270V	RAB3GAP1_uc002tuj.2_Missense_Mutation_p.G270V|RAB3GAP1_uc010fng.2_Missense_Mutation_p.G95V|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	270						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)										0.103448	5.405224	14.487866	6	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135881795	135881795	13394	2	G	T	T	T	572	44	RAB3GAP1	2	2
UBXN4	23190	broad.mit.edu	37	2	136536527	136536527	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136536527A>T	uc002tur.2	+	c.1063A>T	c.(1063-1065)AAC>TAC	p.N355Y	UBXN4_uc002tus.2_Missense_Mutation_p.N121Y|UBXN4_uc002tut.2_5'UTR	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	355	UBX.|Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding				0														0.170213	17.272574	22.106621	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136536527	136536527	17474	2	A	T	T	T	65	5	UBXN4	3	3
LCT	3938	broad.mit.edu	37	2	136567367	136567367	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136567367C>A	uc002tuu.1	-	c.2550G>T	c.(2548-2550)AAG>AAT	p.K850N		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	850	Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.067797	-5.385277	17.421503	8	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136567367	136567367	9017	2	C	A	A	A	311	24	LCT	2	2
LRP1B	53353	broad.mit.edu	37	2	141267539	141267539	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141267539C>A	uc002tvj.1	-	c.8356G>T	c.(8356-8358)GAC>TAC	p.D2786Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2786	Extracellular (Potential).|LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.062112	-12.092863	19.92561	10	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141267539	141267539	9328	2	C	A	A	A	390	30	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141459321	141459321	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141459321C>A	uc002tvj.1	-	c.6396G>T	c.(6394-6396)GAG>GAT	p.E2132D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2132	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.082474	2.239697	19.426235	8	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141459321	141459321	9328	2	C	A	A	A	311	24	LRP1B	2	2
NEB	4703	broad.mit.edu	37	2	152554122	152554122	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152554122C>A	uc010fnx.2	-	c.1193G>T	c.(1192-1194)AGC>ATC	p.S398I	NEB_uc010fny.1_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	398	Nebulin 10.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.082418	-0.441995	31.937514	15	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152554122	152554122	10701	2	C	A	A	A	364	28	NEB	2	2
PRPF40A	55660	broad.mit.edu	37	2	153512879	153512879	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:153512879C>A	uc002tyh.3	-	c.2734G>T	c.(2734-2736)GAA>TAA	p.E912*	PRPF40A_uc002tyg.3_Nonsense_Mutation_p.E368*	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	939					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0														0.150685	18.876608	27.413364	11	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	153512879	153512879	13014	2	C	A	A	A	377	29	PRPF40A	5	2
SLC4A10	57282	broad.mit.edu	37	2	162735795	162735795	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162735795C>A	uc002ubx.3	+	c.1103C>A	c.(1102-1104)ACC>AAC	p.T368N	SLC4A10_uc010fpa.1_Missense_Mutation_p.T380N|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc002uby.3_Missense_Mutation_p.T338N|SLC4A10_uc010zcs.1_Missense_Mutation_p.T349N	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	368	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.171975	52.026576	67.992888	27	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162735795	162735795	15148	2	C	A	A	A	234	18	SLC4A10	2	2
XIRP2	129446	broad.mit.edu	37	2	168102547	168102547	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168102547G>T	uc002udx.2	+	c.4645G>T	c.(4645-4647)GGC>TGC	p.G1549C	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G1374C|XIRP2_uc010fpq.2_Missense_Mutation_p.G1327C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1374					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.056122	-16.945917	23.660875	11	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168102547	168102547	18011	2	G	T	T	T	611	47	XIRP2	2	2
UBR3	130507	broad.mit.edu	37	2	170917828	170917828	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170917828G>T	uc010zdi.1	+	c.4894G>T	c.(4894-4896)GTT>TTT	p.V1632F	UBR3_uc002ufr.3_Non-coding_Transcript|UBR3_uc010fqa.2_Missense_Mutation_p.V453F|UBR3_uc002uft.3_Missense_Mutation_p.V489F|UBR3_uc010zdj.1_Missense_Mutation_p.V323F|UBR3_uc002ufu.3_Missense_Mutation_p.V138F	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1632					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0														0.065574	-6.900856	17.001594	8	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170917828	170917828	17461	2	G	T	T	T	572	44	UBR3	2	2
HOXD10	3236	broad.mit.edu	37	2	176981711	176981711	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:176981711C>A	uc002ukj.2	+	c.150C>A	c.(148-150)ACC>ACA	p.T50T		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	50						nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)						294				0.133333	16.640382	28.385318	12	78	KEEP	---	---	---	---	capture		Silent	SNP	176981711	176981711	7611	2	C	A	A	A	301	24	HOXD10	2	2
TTN	7273	broad.mit.edu	37	2	179416929	179416929	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179416929C>T	uc010zfg.1	-	c.82994G>A	c.(82993-82995)CGA>CAA	p.R27665Q	TTN_uc010zfh.1_Missense_Mutation_p.R21360Q|TTN_uc010zfi.1_Missense_Mutation_p.R21293Q|TTN_uc010zfj.1_Missense_Mutation_p.R21168Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1188										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.060302	-13.7437	26.452271	12	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179416929	179416929	17290	2	C	T	T	T	403	31	TTN	1	1
TTN	7273	broad.mit.edu	37	2	179429386	179429386	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179429386G>T	uc010zfg.1	-	c.73769C>A	c.(73768-73770)CCT>CAT	p.P24590H	TTN_uc010zfh.1_Missense_Mutation_p.P18285H|TTN_uc010zfi.1_Missense_Mutation_p.P18218H|TTN_uc010zfj.1_Missense_Mutation_p.P18093H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2343										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.078125	-0.076655	11.568491	5	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179429386	179429386	17290	2	G	T	T	T	455	35	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179443597	179443597	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179443597G>A	uc010zfg.1	-	c.60456C>T	c.(60454-60456)GCC>GCT	p.A20152A	TTN_uc010zfh.1_Silent_p.A13847A|TTN_uc010zfi.1_Silent_p.A13780A|TTN_uc010zfj.1_Silent_p.A13655A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3223										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.075472	-0.873431	18.707023	8	98	KEEP	---	---	---	---	capture		Silent	SNP	179443597	179443597	17290	2	G	A	A	A	496	39	TTN	1	1
TTN	7273	broad.mit.edu	37	2	179463770	179463770	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179463770A>T	uc010zfg.1	-	c.48963T>A	c.(48961-48963)GAT>GAA	p.D16321E	TTN_uc010zfh.1_Missense_Mutation_p.D10016E|TTN_uc010zfi.1_Missense_Mutation_p.D9949E|TTN_uc010zfj.1_Missense_Mutation_p.D9824E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:Variant_position_missing_in_Q4ZG20_after_alignment										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.101266	7.842588	20.371881	8	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179463770	179463770	17290	2	A	T	T	T	206	16	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179495957	179495957	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179495957C>G	uc010zfg.1	-	c.36114G>C	c.(36112-36114)CAG>CAC	p.Q12038H	TTN_uc010zfh.1_Missense_Mutation_p.Q5733H|TTN_uc010zfi.1_Missense_Mutation_p.Q5666H|TTN_uc010zfj.1_Missense_Mutation_p.Q5541H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2376										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.071429	-0.247142	10.351827	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179495957	179495957	17290	2	C	G	G	G	259	20	TTN	3	3
NCKAP1	10787	broad.mit.edu	37	2	183817573	183817573	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183817573T>A	uc002upb.2	-	c.2469A>T	c.(2467-2469)TTA>TTT	p.L823F	NCKAP1_uc002upc.2_Missense_Mutation_p.L817F	NM_205842	NP_995314	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 2	817					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)											0.12069	7.18464	15.371475	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183817573	183817573	10620	2	T	A	A	A	738	57	NCKAP1	3	3
DUSP19	142679	broad.mit.edu	37	2	183943810	183943810	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183943810G>A	uc002upd.2	+	c.149G>A	c.(148-150)AGT>AAT	p.S50N	DUSP19_uc010frp.2_Missense_Mutation_p.S50N|DUSP19_uc010zfr.1_Non-coding_Transcript|DUSP19_uc002upe.2_Missense_Mutation_p.S50N	NM_080876	NP_543152	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19 isoform 1	50					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			ovary(4)|pancreas(1)	5														0.103448	5.01948	14.090101	6	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183943810	183943810	5003	2	G	A	A	A	468	36	DUSP19	2	2
ZSWIM2	151112	broad.mit.edu	37	2	187693380	187693380	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187693380T>G	uc002upu.1	-	c.1233A>C	c.(1231-1233)AGA>AGC	p.R411S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	411					apoptosis		zinc ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)											0.189189	15.002294	18.347033	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187693380	187693380	18845	2	T	G	G	G	699	54	ZSWIM2	4	4
WDR75	84128	broad.mit.edu	37	2	190328594	190328594	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:190328594G>C	uc002uql.1	+	c.1020G>C	c.(1018-1020)TTG>TTC	p.L340F	WDR75_uc002uqm.1_Missense_Mutation_p.L276F|WDR75_uc002uqn.1_Missense_Mutation_p.L118F|WDR75_uc002uqo.1_Missense_Mutation_p.L118F	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	340	WD 6.					nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)											0.147059	28.844156	41.077239	15	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190328594	190328594	17898	2	G	C	C	C	581	45	WDR75	3	3
STAT1	6772	broad.mit.edu	37	2	191855977	191855977	+	Silent	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:191855977C>G	uc002usj.2	-	c.1014G>C	c.(1012-1014)GGG>GGC	p.G338G	STAT1_uc010fse.1_Silent_p.G338G|STAT1_uc002usk.2_Silent_p.G338G|STAT1_uc002usl.2_Silent_p.G340G|STAT1_uc010fsf.1_Silent_p.G150G	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	338					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(2)|central_nervous_system(2)|ovary(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)					350				0.183908	27.950284	36.110242	16	71	KEEP	---	---	---	---	capture		Silent	SNP	191855977	191855977	15784	2	C	G	G	G	275	22	STAT1	3	3
SDPR	8436	broad.mit.edu	37	2	192711169	192711169	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:192711169C>A	uc002utb.2	-	c.483G>T	c.(481-483)CAG>CAT	p.Q161H		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	161						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)									0.166667	5.413446	7.31021	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192711169	192711169	14456	2	C	A	A	A	311	24	SDPR	2	2
DNAH7	56171	broad.mit.edu	37	2	196729163	196729163	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196729163C>A	uc002utj.3	-	c.7216G>T	c.(7216-7218)GAG>TAG	p.E2406*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2406	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.132353	12.027447	20.956514	9	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	196729163	196729163	4789	2	C	A	A	A	416	32	DNAH7	5	2
DNAH7	56171	broad.mit.edu	37	2	196788436	196788436	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196788436C>A	uc002utj.3	-	c.3708G>T	c.(3706-3708)CTG>CTT	p.L1236L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1236	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.115702	16.262965	33.862176	14	107	KEEP	---	---	---	---	capture		Silent	SNP	196788436	196788436	4789	2	C	A	A	A	262	21	DNAH7	2	2
CPS1	1373	broad.mit.edu	37	2	211421527	211421527	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211421527A>G	uc010fur.2	+	c.88A>G	c.(88-90)ACT>GCT	p.T30A	CPS1_uc002vee.3_Missense_Mutation_p.T24A	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	24					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.073684	-0.332343	17.391486	7	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211421527	211421527	3961	2	A	G	G	G	130	10	CPS1	4	4
CPS1	1373	broad.mit.edu	37	2	211460275	211460275	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211460275A>T	uc010fur.2	+	c.1346A>T	c.(1345-1347)TAC>TTC	p.Y449F	CPS1_uc002vee.3_Missense_Mutation_p.Y443F|CPS1_uc010fus.2_5'UTR	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	443					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.166667	41.995184	57.215051	24	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211460275	211460275	3961	2	A	T	T	T	182	14	CPS1	3	3
APOB	338	broad.mit.edu	37	2	21229930	21229930	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21229930G>A	uc002red.2	-	c.9810C>T	c.(9808-9810)TTC>TTT	p.F3270F		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3270					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.12	13.433613	27.600695	12	88	KEEP	---	---	---	---	capture		Silent	SNP	21229930	21229930	796	2	G	A	A	A	477	37	APOB	1	1
APOB	338	broad.mit.edu	37	2	21232297	21232297	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21232297C>A	uc002red.2	-	c.7443G>T	c.(7441-7443)CTG>CTT	p.L2481L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2481					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.183857	89.534985	110.454461	41	182	KEEP	---	---	---	---	capture		Silent	SNP	21232297	21232297	796	2	C	A	A	A	262	21	APOB	2	2
APOB	338	broad.mit.edu	37	2	21232405	21232405	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21232405C>G	uc002red.2	-	c.7335G>C	c.(7333-7335)GAG>GAC	p.E2445D		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2445					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.165179	67.117479	90.974925	37	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21232405	21232405	796	2	C	G	G	G	311	24	APOB	3	3
APOB	338	broad.mit.edu	37	2	21256304	21256304	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21256304C>T	uc002red.2	-	c.991G>A	c.(991-993)GAA>AAA	p.E331K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	331	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.094444	8.24787	37.982344	17	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21256304	21256304	796	2	C	T	T	T	390	30	APOB	2	2
SPAG16	79582	broad.mit.edu	37	2	214794721	214794721	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:214794721G>T	uc002veq.2	+	c.1252G>T	c.(1252-1254)GTT>TTT	p.V418F	SPAG16_uc010fuz.1_Missense_Mutation_p.V269F|SPAG16_uc002ver.2_Missense_Mutation_p.V364F|SPAG16_uc010zjk.1_Missense_Mutation_p.V324F	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	418	WD 2.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)	1		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)										0.052083	-9.303281	11.061668	5	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214794721	214794721	15481	2	G	T	T	T	468	36	SPAG16	2	2
BARD1	580	broad.mit.edu	37	2	215595145	215595145	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215595145C>G	uc002veu.2	-	c.1991G>C	c.(1990-1992)AGA>ACA	p.R664T	BARD1_uc010zjm.1_Missense_Mutation_p.R520T	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	664					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)										0.2	54.116433	62.903411	21	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215595145	215595145	1333	2	C	G	G	G	416	32	BARD1	3	3
PAX3	5077	broad.mit.edu	37	2	223096823	223096823	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:223096823C>G	uc002vmt.1	-	c.766G>C	c.(766-768)GCG>CCG	p.A256P	PAX3_uc002vmy.1_Missense_Mutation_p.A255P|PAX3_uc002vmv.1_Missense_Mutation_p.A256P|PAX3_uc002vmw.1_Missense_Mutation_p.A256P|PAX3_uc002vmx.1_Missense_Mutation_p.A256P|PAX3_uc010fwo.2_Missense_Mutation_p.A256P	NM_181459	NP_852124	P23760	PAX3_HUMAN	paired box 3 isoform PAX3e	256	Homeobox.				apoptosis|organ morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)	765		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)						141				0.109091	13.637843	30.287571	12	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223096823	223096823	11900	2	C	G	G	G	338	26	PAX3	3	3
ACSL3	2181	broad.mit.edu	37	2	223797991	223797991	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:223797991G>T	uc002vni.2	+	c.1840G>T	c.(1840-1842)GCA>TCA	p.A614S	ACSL3_uc002vnj.2_Missense_Mutation_p.A614S	NM_004457	NP_004448	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	614	Cytoplasmic (Potential).				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			ovary(2)	2		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)									0.056604	-9.535108	12.357151	6	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223797991	223797991	179	2	G	T	T	T	598	46	ACSL3	2	2
SCG2	7857	broad.mit.edu	37	2	224462916	224462916	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:224462916G>A	uc002vnm.2	-	c.1085C>T	c.(1084-1086)CCA>CTA	p.P362L		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	362					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)										0.192308	78.320711	94.412335	35	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	224462916	224462916	14372	2	G	A	A	A	611	47	SCG2	2	2
DOCK10	55619	broad.mit.edu	37	2	225637952	225637952	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225637952C>T	uc010fwz.1	-	c.6126G>A	c.(6124-6126)GAG>GAA	p.E2042E	DOCK10_uc002vob.2_Silent_p.E2036E|DOCK10_uc002voa.2_Silent_p.E698E	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2042	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)										0.270833	68.006174	72.554435	26	70	KEEP	---	---	---	---	capture		Silent	SNP	225637952	225637952	4869	2	C	T	T	T	363	28	DOCK10	2	2
SP110	3431	broad.mit.edu	37	2	231037615	231037615	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231037615T>A	uc002vqg.3	-	c.1651A>T	c.(1651-1653)ACT>TCT	p.T551S	SP110_uc002vqh.3_Missense_Mutation_p.T551S	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform c	551	PHD-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)						445				0.140625	13.833658	21.81348	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231037615	231037615	15461	2	T	A	A	A	741	57	SP110	3	3
ALPI	248	broad.mit.edu	37	2	233322032	233322032	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233322032C>T	uc002vst.3	+	c.648C>T	c.(646-648)GAC>GAT	p.D216D	ALPI_uc002vsu.3_Silent_p.D127D	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	216					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)										0.1	1.806555	6.598625	3	27	KEEP	---	---	---	---	capture		Silent	SNP	233322032	233322032	546	2	C	T	T	T	246	19	ALPI	1	1
AGAP1	116987	broad.mit.edu	37	2	236708124	236708124	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:236708124G>A	uc002vvs.2	+	c.915G>A	c.(913-915)ACG>ACA	p.T305T	AGAP1_uc002vvt.2_Silent_p.T305T	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	305					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)	2														0.212389	54.342961	62.979484	24	89	KEEP	---	---	---	---	capture		Silent	SNP	236708124	236708124	368	2	G	A	A	A	483	38	AGAP1	1	1
GBX2	2637	broad.mit.edu	37	2	237074746	237074746	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:237074746G>T	uc002vvw.1	-	c.858C>A	c.(856-858)CTC>CTA	p.L286L	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	286	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)										0.292308	47.501693	50.011923	19	46	KEEP	---	---	---	---	capture		Silent	SNP	237074746	237074746	6547	2	G	T	T	T	574	45	GBX2	2	2
COPS8	10920	broad.mit.edu	37	2	238005469	238005469	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238005469A>T	uc002vwh.2	+	c.507A>T	c.(505-507)GCA>GCT	p.A169A	COPS8_uc002vwg.2_Silent_p.A120A|COPS8_uc002vwi.2_Silent_p.A166A	NM_006710	NP_006701	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8 isoform 1	169						cytoplasm|signalosome				ovary(1)	1		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)										0.227273	38.310604	42.801862	15	51	KEEP	---	---	---	---	capture		Silent	SNP	238005469	238005469	3878	2	A	T	T	T	80	7	COPS8	3	3
PASK	23178	broad.mit.edu	37	2	242065750	242065750	+	Silent	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242065750T>C	uc010fzl.1	-	c.2580A>G	c.(2578-2580)CCA>CCG	p.P860P	PASK_uc010zol.1_Silent_p.P674P|PASK_uc002wao.1_Silent_p.P860P|PASK_uc010zom.1_Silent_p.P825P|PASK_uc010zon.1_Silent_p.P641P|PASK_uc002wap.2_Silent_p.P403P|PASK_uc002waq.2_Silent_p.P860P	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	860					protein phosphorylation|regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)						754				0.15534	24.029541	35.745553	16	87	KEEP	---	---	---	---	capture		Silent	SNP	242065750	242065750	11889	2	T	C	C	C	652	51	PASK	4	4
TP53I3	9540	broad.mit.edu	37	2	24305877	24305877	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24305877T>G	uc002rey.1	-	c.284A>C	c.(283-285)CAG>CCG	p.Q95P	LOC375190_uc002rew.2_Intron|TP53I3_uc002rex.1_Missense_Mutation_p.Q95P|TP53I3_uc002rez.1_Missense_Mutation_p.Q95P|TP53I3_uc010ykk.1_Silent_p.R45R	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	95					induction of apoptosis by oxidative stress|NADP metabolic process|oxidation-reduction process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.203125	25.648085	30.880839	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24305877	24305877	16929	2	T	G	G	G	715	55	TP53I3	4	4
ASXL2	55252	broad.mit.edu	37	2	25972653	25972653	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:25972653C>G	uc002rgs.2	-	c.1772G>C	c.(1771-1773)CGC>CCC	p.R591P	ASXL2_uc002rgt.1_Missense_Mutation_p.R331P	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.12766	9.939763	16.272074	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25972653	25972653	1086	2	C	G	G	G	351	27	ASXL2	3	3
C2orf39	92749	broad.mit.edu	37	2	26671557	26671557	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26671557A>T	uc002rhg.2	+	c.1397_splice	c.e11-2	p.E466_splice		NM_145038	NP_659475			hypothetical protein LOC92749												0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.314286	32.411736	33.486196	11	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	26671557	26671557	2252	2	A	T	T	T	91	7	C2orf39	5	3
IFT172	26160	broad.mit.edu	37	2	27703991	27703991	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27703991C>A	uc002rku.2	-	c.707G>T	c.(706-708)CGT>CTT	p.R236L	IFT172_uc002rkw.2_Missense_Mutation_p.R236L|IFT172_uc010yls.1_Missense_Mutation_p.R215L|IFT172_uc010ezc.2_Missense_Mutation_p.R236L|IFT172_uc002rkv.2_Missense_Mutation_p.R236L	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	236					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)													0.083871	4.814746	32.019513	13	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27703991	27703991	7858	2	C	A	A	A	247	19	IFT172	1	1
C2orf71	388939	broad.mit.edu	37	2	29295619	29295619	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29295619A>T	uc002rmt.1	-	c.1509T>A	c.(1507-1509)TGT>TGA	p.C503*		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	503					response to stimulus|visual perception	photoreceptor outer segment					0														0.197531	37.560248	44.455982	16	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29295619	29295619	2279	2	A	T	T	T	76	6	C2orf71	5	3
ALK	238	broad.mit.edu	37	2	29754879	29754879	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29754879G>A	uc002rmy.2	-	c.1056C>T	c.(1054-1056)CAC>CAT	p.H352H		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	352	MAM 1.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.145078	43.683409	67.06585	28	165	KEEP	---	---	---	---	capture		Silent	SNP	29754879	29754879	528	2	G	A	A	A	620	48	ALK	2	2
TTC27	55622	broad.mit.edu	37	2	33003038	33003038	+	Silent	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33003038A>G	uc002rom.2	+	c.1770A>G	c.(1768-1770)CTA>CTG	p.L590L	TTC27_uc010ymx.1_Silent_p.L540L|TTC27_uc002ron.2_Non-coding_Transcript	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	590	TPR 4.						protein binding			central_nervous_system(1)	1														0.1	6.107062	15.694292	6	54	KEEP	---	---	---	---	capture		Silent	SNP	33003038	33003038	17249	2	A	G	G	G	184	15	TTC27	4	4
SIX2	10736	broad.mit.edu	37	2	45236131	45236131	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:45236131C>A	uc002rup.2	-	c.119G>T	c.(118-120)TGC>TTC	p.C40F	SIX2_uc002ruo.2_Missense_Mutation_p.C40F	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	40						nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)												0.190476	8.492494	10.369704	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45236131	45236131	14842	2	C	A	A	A	325	25	SIX2	2	2
FSHR	2492	broad.mit.edu	37	2	49190243	49190243	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:49190243G>C	uc002rww.2	-	c.1717C>G	c.(1717-1719)CGC>GGC	p.R573G	FSHR_uc002rwx.2_Missense_Mutation_p.R511G|FSHR_uc010fbn.2_Missense_Mutation_p.R547G	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	573	Cytoplasmic (Potential).		R -> C (in ODG1; alters signal transduction of the receptor; adenylate cyclase stimulation by FSH is 24 +-4% residual activity).		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)	4		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									0.083333	1.364115	16.185171	7	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49190243	49190243	6324	2	G	C	C	C	494	38	FSHR	3	3
BMP10	27302	broad.mit.edu	37	2	69092908	69092908	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69092908T>A	uc002sez.1	-	c.1130A>T	c.(1129-1131)CAC>CTC	p.H377L		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	377					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2														0.165714	56.768856	75.320828	29	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69092908	69092908	1482	2	T	A	A	A	767	59	BMP10	3	3
ALMS1	7840	broad.mit.edu	37	2	73677104	73677104	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73677104G>T	uc002sje.1	+	c.3453G>T	c.(3451-3453)AAG>AAT	p.K1151N	ALMS1_uc002sjf.1_Missense_Mutation_p.K1107N|ALMS1_uc002sjg.2_Missense_Mutation_p.K537N|ALMS1_uc002sjh.1_Missense_Mutation_p.K537N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1149	34 X 47 AA approximate tandem repeat.|13.				G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.063187	-30.667645	41.741711	23	341	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73677104	73677104	538	2	G	T	T	T	438	34	ALMS1	2	2
TET3	200424	broad.mit.edu	37	2	74274579	74274579	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74274579C>T	uc002skb.3	+	c.1130C>T	c.(1129-1131)CCC>CTC	p.P377L	TET3_uc010fez.1_Missense_Mutation_p.P377L	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	377					oxidation-reduction process		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0														0.181818	8.486386	10.579044	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74274579	74274579	16298	2	C	T	T	T	286	22	TET3	2	2
SLC4A5	57835	broad.mit.edu	37	2	74491375	74491375	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74491375C>A	uc002sko.1	-	c.614G>T	c.(613-615)CGG>CTG	p.R205L	SLC4A5_uc002skl.2_Non-coding_Transcript|SLC4A5_uc002skn.2_Missense_Mutation_p.R205L|SLC4A5_uc010ffc.1_Missense_Mutation_p.R205L|SLC4A5_uc002skp.1_Missense_Mutation_p.R141L|SLC4A5_uc002sks.1_Missense_Mutation_p.R205L	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	205	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|central_nervous_system(1)|skin(1)	7														0.236842	20.359986	22.763251	9	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74491375	74491375	15154	2	C	A	A	A	299	23	SLC4A5	1	1
RTKN	6242	broad.mit.edu	37	2	74654356	74654356	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74654356G>A	uc002sle.2	-	c.1300C>T	c.(1300-1302)CCT>TCT	p.P434S	RTKN_uc002slc.2_Missense_Mutation_p.P421S|RTKN_uc002sld.2_Missense_Mutation_p.P384S	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN	rhotekin isoform a	434					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity				0														0.110345	13.485807	35.301111	16	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74654356	74654356	14202	2	G	A	A	A	533	41	RTKN	2	2
LRRTM4	80059	broad.mit.edu	37	2	77746033	77746033	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:77746033G>T	uc002snr.2	-	c.962C>A	c.(961-963)CCT>CAT	p.P321H	LRRTM4_uc002snq.2_Missense_Mutation_p.P321H|LRRTM4_uc002sns.2_Missense_Mutation_p.P321H|LRRTM4_uc002snt.2_Missense_Mutation_p.P322H	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	321	LRRCT.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.363636	23.906254	24.26099	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77746033	77746033	9418	2	G	T	T	T	455	35	LRRTM4	2	2
LRRTM4	80059	broad.mit.edu	37	2	77746316	77746316	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:77746316G>T	uc002snr.2	-	c.679C>A	c.(679-681)CGT>AGT	p.R227S	LRRTM4_uc002snq.2_Missense_Mutation_p.R227S|LRRTM4_uc002sns.2_Missense_Mutation_p.R227S|LRRTM4_uc002snt.2_Missense_Mutation_p.R228S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	227	Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.139241	20.278745	30.205317	11	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77746316	77746316	9418	2	G	T	T	T	520	40	LRRTM4	1	1
KCMF1	56888	broad.mit.edu	37	2	85255017	85255017	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:85255017A>T	uc002sox.3	+	c.22A>T	c.(22-24)AGC>TGC	p.S8C		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	8	ZZ-type.					intracellular	ligase activity|zinc ion binding			ovary(2)	2														0.128205	8.349685	13.600792	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85255017	85255017	8305	2	A	T	T	T	91	7	KCMF1	3	3
SMYD1	150572	broad.mit.edu	37	2	88410030	88410030	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88410030G>A	uc002ssr.2	+	c.1472G>A	c.(1471-1473)TGA>TAA	p.*491*	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Silent_p.*187*	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3														0.153846	5.981938	8.965526	4	22	KEEP	---	---	---	---	capture		Silent	SNP	88410030	88410030	15321	2	G	A	A	A	581	45	SMYD1	2	2
GPAT2	150763	broad.mit.edu	37	2	96690378	96690378	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96690378A>T	uc002svf.2	-	c.1466T>A	c.(1465-1467)CTG>CAG	p.L489Q	GPAT2_uc002svd.2_Missense_Mutation_p.L308Q|GPAT2_uc002sve.2_Missense_Mutation_p.L291Q|GPAT2_uc002svg.2_Missense_Mutation_p.L368Q|GPAT2_uc010yuh.1_Missense_Mutation_p.L418Q|GPAT2_uc002svh.2_Missense_Mutation_p.L489Q	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	489					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0														0.114754	9.585996	18.502445	7	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96690378	96690378	6863	2	A	T	T	T	91	7	GPAT2	3	3
GPAT2	150763	broad.mit.edu	37	2	96691745	96691745	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96691745C>G	uc002svf.2	-	c.1171G>C	c.(1171-1173)GCC>CCC	p.A391P	GPAT2_uc002svd.2_Missense_Mutation_p.A204P|GPAT2_uc002sve.2_Missense_Mutation_p.A193P|GPAT2_uc002svg.2_Missense_Mutation_p.A264P|GPAT2_uc010yuh.1_Missense_Mutation_p.A320P|GPAT2_uc002svh.2_Missense_Mutation_p.A391P	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2,	391					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity				0														0.142857	7.286998	10.723297	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96691745	96691745	6863	2	C	G	G	G	325	25	GPAT2	3	3
CNGA3	1261	broad.mit.edu	37	2	98999890	98999890	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98999890C>T	uc002syt.2	+	c.435C>T	c.(433-435)AAC>AAT	p.N145N	CNGA3_uc002syu.2_Intron|CNGA3_uc010fij.2_Silent_p.N149N	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	145					signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.096774	1.703225	11.812036	6	56	KEEP	---	---	---	---	capture		Silent	SNP	98999890	98999890	3736	2	C	T	T	T	220	17	CNGA3	2	2
LSAMP	4045	broad.mit.edu	37	3	115738401	115738401	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:115738401G>C	uc011bis.1	-	c.475C>G	c.(475-477)CCT>GCT	p.P159A	LSAMP_uc003ebt.2_Missense_Mutation_p.P159A	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	159	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)										0.183575	85.359227	104.785967	38	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115738401	115738401	9424	3	G	C	C	C	533	41	LSAMP	3	3
UPK1B	7348	broad.mit.edu	37	3	118906753	118906753	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:118906753C>G	uc003ecc.2	+	c.201C>G	c.(199-201)ATC>ATG	p.I67M	UPK1B_uc011bix.1_De_novo_Start_InFrame|UPK1B_uc003ecd.2_Missense_Mutation_p.I67M	NM_006952	NP_008883	O75841	UPK1B_HUMAN	uroplakin 1B	67	Helical; (Potential).				epithelial cell differentiation	integral to membrane	structural molecule activity				0				GBM - Glioblastoma multiforme(114;0.222)										0.188776	80.552405	98.325945	37	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118906753	118906753	17568	3	C	G	G	G	408	32	UPK1B	3	3
B4GALT4	8702	broad.mit.edu	37	3	118937520	118937520	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:118937520G>A	uc003ecg.2	-	c.774C>T	c.(772-774)GGC>GGT	p.G258G	B4GALT4_uc003ece.1_Silent_p.G258G|B4GALT4_uc003ecf.2_Intron|B4GALT4_uc003ech.2_Silent_p.G258G|B4GALT4_uc003eci.2_Silent_p.G258G|B4GALT4_uc011biy.1_Intron	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	258	Lumenal (Potential).				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity				0				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)									0.189655	63.172722	78.779371	33	141	KEEP	---	---	---	---	capture		Silent	SNP	118937520	118937520	1294	3	G	A	A	A	483	38	B4GALT4	1	1
STXBP5L	9515	broad.mit.edu	37	3	120673790	120673790	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120673790G>T	uc003eec.3	+	c.193G>T	c.(193-195)GTT>TTT	p.V65F	STXBP5L_uc011bji.1_Missense_Mutation_p.V65F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	65					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.081395	-0.347124	15.01039	7	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120673790	120673790	15877	3	G	T	T	T	468	36	STXBP5L	2	2
SEMA5B	54437	broad.mit.edu	37	3	122646650	122646650	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122646650G>T	uc003efz.1	-	c.837C>A	c.(835-837)TCC>TCA	p.S279S	SEMA5B_uc011bju.1_Silent_p.S221S|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.S279S|SEMA5B_uc010hro.1_Silent_p.S221S|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	279	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)						383				0.090909	1.798715	7.36672	3	30	KEEP	---	---	---	---	capture		Silent	SNP	122646650	122646650	14524	3	G	T	T	T	600	47	SEMA5B	2	2
KALRN	8997	broad.mit.edu	37	3	124438261	124438261	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124438261C>A	uc003ehg.2	+	c.8905C>A	c.(8905-8907)CGG>AGG	p.R2969R	KALRN_uc003ehk.2_Silent_p.R1272R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2968					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.152778	19.081231	27.386936	11	61	KEEP	---	---	---	---	capture		Silent	SNP	124438261	124438261	8279	3	C	A	A	A	347	27	KALRN	1	1
PLXND1	23129	broad.mit.edu	37	3	129285420	129285420	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129285420G>A	uc003emx.2	-	c.4141C>T	c.(4141-4143)CAG>TAG	p.Q1381*	PLXND1_uc011blb.1_Nonsense_Mutation_p.Q49*	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1381	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						Ovarian(97;366 1484 3738 22084 39045)								0.173913	7.484178	9.795175	4	19	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	129285420	129285420	12553	3	G	A	A	A	611	47	PLXND1	5	2
COL6A6	131873	broad.mit.edu	37	3	130311915	130311915	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:130311915G>T	uc010htl.2	+	c.4382G>T	c.(4381-4383)GGG>GTG	p.G1461V	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1461	Triple-helical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8														0.179856	151.724268	191.887259	75	342	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130311915	130311915	3841	3	G	T	T	T	559	43	COL6A6	2	2
CPNE4	131034	broad.mit.edu	37	3	131388535	131388535	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:131388535G>T	uc011blq.1	-	c.719C>A	c.(718-720)CCA>CAA	p.P240Q	CPNE4_uc003eok.2_Missense_Mutation_p.P222Q|CPNE4_uc003eol.2_Missense_Mutation_p.P240Q|CPNE4_uc003eom.2_Missense_Mutation_p.P222Q	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	222	C2 2.									central_nervous_system(1)	1														0.054054	-25.491968	28.753297	14	245	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131388535	131388535	3952	3	G	T	T	T	611	47	CPNE4	2	2
CCRL1	51554	broad.mit.edu	37	3	132320151	132320151	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:132320151G>A	uc003eow.2	+	c.910G>A	c.(910-912)GTT>ATT	p.V304I	ACAD11_uc003eov.3_Intron|ACAD11_uc011blr.1_Intron|CCRL1_uc003eox.2_Missense_Mutation_p.V304I	NM_016557	NP_057641	Q9NPB9	CCRL1_HUMAN	chemokine (C-C motif) receptor-like 1	304	Helical; Name=7; (Potential).				chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity				0						Pancreas(96;1505 1524 4501 17831 18121)								0.067183	-21.26549	53.844809	26	361	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132320151	132320151	3076	3	G	A	A	A	624	48	CCRL1	2	2
ARMC8	25852	broad.mit.edu	37	3	137953878	137953878	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137953878G>T	uc003esa.1	+	c.489G>T	c.(487-489)GGG>GGT	p.G163G	ARMC8_uc003erw.2_Silent_p.G163G|ARMC8_uc003erx.2_Silent_p.G163G|ARMC8_uc003ery.2_Silent_p.G135G|ARMC8_uc003erz.2_Silent_p.G135G|ARMC8_uc011bmf.1_Silent_p.G146G|ARMC8_uc011bmg.1_Silent_p.G177G|ARMC8_uc011bmh.1_Silent_p.G104G|ARMC8_uc003esb.1_Silent_p.G135G|ARMC8_uc003esc.1_5'Flank	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8 isoform 2	177							binding				0														0.125	6.145641	11.642917	5	35	KEEP	---	---	---	---	capture		Silent	SNP	137953878	137953878	975	3	G	T	T	T	535	42	ARMC8	2	2
TXNDC6	347736	broad.mit.edu	37	3	138023736	138023736	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:138023736G>C	uc003esg.2	-	c.770C>G	c.(769-771)GCC>GGC	p.A257G	TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Missense_Mutation_p.A172G|TXNDC6_uc003ese.1_Missense_Mutation_p.A196G	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	257	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5														0.126437	32.061264	55.730903	22	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138023736	138023736	17356	3	G	C	C	C	546	42	TXNDC6	3	3
ZIC4	84107	broad.mit.edu	37	3	147114052	147114052	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147114052G>A	uc011bno.1	-	c.425C>T	c.(424-426)GCC>GTC	p.A142V	ZIC4_uc003ewc.1_Missense_Mutation_p.A22V|ZIC4_uc003ewd.1_Missense_Mutation_p.A92V	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	92	Poly-Ala.					nucleus	DNA binding|zinc ion binding				0														0.16	5.882478	8.638153	4	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147114052	147114052	18272	3	G	A	A	A	546	42	ZIC4	2	2
AADACL2	344752	broad.mit.edu	37	3	151474780	151474780	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151474780G>A	uc003ezc.2	+	c.604G>A	c.(604-606)GTG>ATG	p.V202M	AADACL2_uc010hvn.2_De_novo_Start_InFrame	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	202						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)											0.216667	30.64028	35.085035	13	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151474780	151474780	12	3	G	A	A	A	572	44	AADACL2	2	2
GMPS	8833	broad.mit.edu	37	3	155611337	155611337	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155611337G>C	uc003faq.2	+	c.58G>C	c.(58-60)GGC>CGC	p.G20R	GMPS_uc011bom.1_Intron	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	20					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	Ovarian(153;896 1876 4149 15499 28134)				552				0.113924	9.042628	20.637747	9	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155611337	155611337	6767	3	G	C	C	C	611	47	GMPS	3	3
KCNAB1	7881	broad.mit.edu	37	3	156234078	156234078	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:156234078G>C	uc003far.2	+	c.885G>C	c.(883-885)TGG>TGC	p.W295C	KCNAB1_uc011bon.1_Missense_Mutation_p.W266C|KCNAB1_uc003fas.2_Missense_Mutation_p.W284C|KCNAB1_uc003fat.2_Missense_Mutation_p.W277C|KCNAB1_uc010hvt.1_Missense_Mutation_p.W248C|KCNAB1_uc011boo.1_Missense_Mutation_p.W171C	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	295					oxidation-reduction process	cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)											0.050847	-10.441285	14.765731	6	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156234078	156234078	8314	3	G	C	C	C	572	44	KCNAB1	3	3
NAALADL2	254827	broad.mit.edu	37	3	175189490	175189490	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:175189490G>T	uc003fit.2	+	c.1597G>T	c.(1597-1599)GGG>TGG	p.G533W	NAALADL2_uc003fiu.1_Missense_Mutation_p.G526W|NAALADL2_uc010hwy.1_Missense_Mutation_p.G307W|NAALADL2_uc010hwz.1_Missense_Mutation_p.G127W	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	533	Extracellular (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)										0.169014	19.906059	27.233213	12	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175189490	175189490	10525	3	G	T	T	T	559	43	NAALADL2	2	2
KCNMB2	10242	broad.mit.edu	37	3	178525238	178525238	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:178525238G>A	uc003fjd.2	+	c.41G>A	c.(40-42)AGA>AAA	p.R14K	KCNMB2_uc003fje.2_Missense_Mutation_p.R14K|KCNMB2_uc003fjf.2_Missense_Mutation_p.R14K|KCNMB2_uc011bqa.1_Missense_Mutation_p.R14K|KCNMB2_uc011bqb.1_Non-coding_Transcript	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	14	Cytoplasmic (Potential).|Ball and chain.				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)											0.2	40.624733	47.740794	17	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178525238	178525238	8380	3	G	A	A	A	429	33	KCNMB2	2	2
USP13	8975	broad.mit.edu	37	3	179483594	179483594	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179483594G>T	uc003fkh.2	+	c.2371G>T	c.(2371-2373)GAG>TAG	p.E791*		NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	791					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)											0.082192	0.091991	13.0617	6	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	179483594	179483594	17606	3	G	T	T	T	585	45	USP13	5	2
MCF2L2	23101	broad.mit.edu	37	3	182910837	182910837	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:182910837C>A	uc003fli.1	-	c.2966G>T	c.(2965-2967)AGA>ATA	p.R989I		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	989					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(1)|breast(1)	4	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)											0.189189	13.211343	16.550853	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182910837	182910837	9769	3	C	A	A	A	416	32	MCF2L2	2	2
KLHL24	54800	broad.mit.edu	37	3	183396891	183396891	+	Silent	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183396891T>A	uc003flv.2	+	c.1620T>A	c.(1618-1620)TCT>TCA	p.S540S	KLHL24_uc003flw.2_Silent_p.S540S	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	540	Kelch 5.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)											0.075472	-0.838003	8.953364	4	49	KEEP	---	---	---	---	capture		Silent	SNP	183396891	183396891	8691	3	T	A	A	A	704	55	KLHL24	3	3
YEATS2	55689	broad.mit.edu	37	3	183432968	183432968	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183432968A>T	uc003fly.2	+	c.18A>T	c.(16-18)CGA>CGT	p.R6R		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	6					histone H3 acetylation|negative regulation of gene-specific transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	specific transcriptional repressor activity|TBP-class protein binding			ovary(2)|large_intestine(1)	3	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.116505	11.827565	26.734606	12	91	KEEP	---	---	---	---	capture		Silent	SNP	183432968	183432968	18055	3	A	T	T	T	106	9	YEATS2	3	3
ABCC5	10057	broad.mit.edu	37	3	183689445	183689445	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183689445C>A	uc003fmg.2	-	c.1667G>T	c.(1666-1668)CGG>CTG	p.R556L	ABCC5_uc011bqt.1_Missense_Mutation_p.R84L|ABCC5_uc010hxl.2_Missense_Mutation_p.R556L	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	556						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.311111	36.217855	37.657614	14	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183689445	183689445	57	3	C	A	A	A	299	23	ABCC5	1	1
THPO	7066	broad.mit.edu	37	3	184090955	184090955	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184090955C>A	uc003fol.1	-	c.408G>T	c.(406-408)CAG>CAT	p.Q136H	THPO_uc003fom.1_Intron|THPO_uc003fon.2_Missense_Mutation_p.Q136H|THPO_uc011bro.1_Splice_Site_SNP_p.G133_splice|THPO_uc003fop.2_Splice_Site_SNP_p.G133_splice|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Missense_Mutation_p.Q136H|THPO_uc003for.1_Intron|THPO_uc003fos.1_Non-coding_Transcript|THPO_uc003fot.1_3'UTR	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	136					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.171429	20.837816	28.014181	12	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184090955	184090955	16400	3	C	A	A	A	312	24	THPO	2	2
EPHB3	2049	broad.mit.edu	37	3	184297667	184297667	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184297667C>T	uc003foz.2	+	c.2117C>T	c.(2116-2118)CCA>CTA	p.P706L		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	706	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(2)|breast(2)|ovary(1)|skin(1)	6	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)							292				0.115385	3.503272	11.107743	6	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184297667	184297667	5369	3	C	T	T	T	273	21	EPHB3	2	2
KNG1	3827	broad.mit.edu	37	3	186460062	186460062	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186460062A>G	uc011bsa.1	+	c.1877A>G	c.(1876-1878)AAT>AGT	p.N626S	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	626					blood coagulation, intrinsic pathway|diuresis|elevation of cytosolic calcium ion concentration|inflammatory response|natriuresis|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding				0	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)									0.082192	1.99329	14.959081	6	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186460062	186460062	8741	3	A	G	G	G	52	4	KNG1	4	4
LRRC15	131578	broad.mit.edu	37	3	194080144	194080144	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194080144G>T	uc003ftt.2	-	c.1647C>A	c.(1645-1647)GCC>GCA	p.A549A	LRRC15_uc003ftu.2_Silent_p.A543A	NM_001135057	NP_001128529	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform a	543	Helical; (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)										0.25	7.5656	8.216986	3	9	KEEP	---	---	---	---	capture		Silent	SNP	194080144	194080144	9344	3	G	T	T	T	600	47	LRRC15	2	2
ATP13A3	79572	broad.mit.edu	37	3	194162107	194162107	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194162107A>T	uc003fty.3	-	c.1643T>A	c.(1642-1644)CTT>CAT	p.L548H	ATP13A3_uc003ftz.1_Missense_Mutation_p.L254H	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	548					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)										0.121951	10.989731	22.474818	10	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	194162107	194162107	1144	3	A	T	T	T	39	3	ATP13A3	3	3
KCNH8	131096	broad.mit.edu	37	3	19491721	19491721	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19491721C>A	uc003cbk.1	+	c.1499C>A	c.(1498-1500)CCC>CAC	p.P500H	KCNH8_uc011awe.1_Missense_Mutation_p.P500H|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Missense_Mutation_p.P159H	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	500	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.181818	43.759436	55.295705	22	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19491721	19491721	8343	3	C	A	A	A	286	22	KCNH8	2	2
KCNH8	131096	broad.mit.edu	37	3	19498354	19498354	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19498354G>T	uc003cbk.1	+	c.1920G>T	c.(1918-1920)CAG>CAT	p.Q640H	KCNH8_uc010hex.1_Missense_Mutation_p.Q101H	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	640	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.098901	4.498574	19.161589	9	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19498354	19498354	8343	3	G	T	T	T	464	36	KCNH8	2	2
ARPP21	10777	broad.mit.edu	37	3	35725261	35725261	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:35725261G>T	uc011axy.1	+	c.215G>T	c.(214-216)TGT>TTT	p.C72F	ARPP21_uc003cga.2_Missense_Mutation_p.C72F|ARPP21_uc003cgb.2_Missense_Mutation_p.C72F|ARPP21_uc003cfz.2_Non-coding_Transcript|ARPP21_uc003cgc.2_Missense_Mutation_p.C72F|ARPP21_uc003cgd.2_Missense_Mutation_p.C72F|ARPP21_uc011axx.1_Non-coding_Transcript|ARPP21_uc003cge.2_Missense_Mutation_p.C72F	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	72						cytoplasm	nucleic acid binding			ovary(2)	2														0.153846	18.906613	26.354666	10	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35725261	35725261	996	3	G	T	T	T	624	48	ARPP21	2	2
ARPP21	10777	broad.mit.edu	37	3	35780931	35780931	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:35780931G>T	uc011axy.1	+	c.1770G>T	c.(1768-1770)CAG>CAT	p.Q590H	ARPP21_uc003cga.2_Missense_Mutation_p.Q570H|ARPP21_uc003cgb.2_Missense_Mutation_p.Q589H|ARPP21_uc003cgf.2_Missense_Mutation_p.Q425H|ARPP21_uc003cgg.2_Missense_Mutation_p.Q112H	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	589	Gln-rich.					cytoplasm	nucleic acid binding			ovary(2)	2														0.134615	9.597645	16.322676	7	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35780931	35780931	996	3	G	T	T	T	438	34	ARPP21	2	2
TRAK1	22906	broad.mit.edu	37	3	42229535	42229535	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42229535A>T	uc003cky.2	+	c.481_splice	c.e5-2	p.V161_splice	TRAK1_uc011azh.1_Splice_Site_SNP_p.V161_splice|TRAK1_uc011azi.1_Splice_Site_SNP_p.V161_splice|TRAK1_uc003ckz.3_Splice_Site_SNP_p.V87_splice|TRAK1_uc011azj.1_Splice_Site_SNP_p.V87_splice|TRAK1_uc003cla.2_Splice_Site_SNP_p.V103_splice	NM_001042646	NP_001036111			OGT(O-Glc-NAc transferase)-interacting protein						endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.201299	76.644802	89.408624	31	123	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	42229535	42229535	16993	3	A	T	T	T	91	7	TRAK1	5	3
TRAK1	22906	broad.mit.edu	37	3	42251330	42251330	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42251330G>T	uc003cky.2	+	c.1816G>T	c.(1816-1818)GGT>TGT	p.G606C	TRAK1_uc011azh.1_Missense_Mutation_p.G606C|TRAK1_uc011azi.1_Missense_Mutation_p.G606C|TRAK1_uc011azj.1_Missense_Mutation_p.G532C|TRAK1_uc003cla.2_Missense_Mutation_p.G548C	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	606					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.185185	22.186026	27.151577	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42251330	42251330	16993	3	G	T	T	T	507	39	TRAK1	1	1
ZNF502	91392	broad.mit.edu	37	3	44762981	44762981	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44762981A>T	uc011baa.1	+	c.672A>T	c.(670-672)TCA>TCT	p.S224S	ZNF502_uc003cns.2_Silent_p.S224S|ZNF502_uc011bab.1_Silent_p.S224S|ZNF502_uc003cnt.2_Silent_p.S224S	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	224	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)										0.289796	200.058607	209.742475	71	174	KEEP	---	---	---	---	capture		Silent	SNP	44762981	44762981	18544	3	A	T	T	T	93	8	ZNF502	3	3
DNAH1	25981	broad.mit.edu	37	3	52392594	52392594	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52392594G>T	uc011bef.1	+	c.4107G>T	c.(4105-4107)CTG>CTT	p.L1369L		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1369	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.25	7.418473	8.100862	3	9	KEEP	---	---	---	---	capture		Silent	SNP	52392594	52392594	4779	3	G	T	T	T	600	47	DNAH1	2	2
OR5H1	26341	broad.mit.edu	37	3	97852075	97852075	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97852075C>A	uc011bgt.1	+	c.534C>A	c.(532-534)TAC>TAA	p.Y178*		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.117021	12.057799	25.619919	11	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	97852075	97852075	11569	3	C	A	A	A	259	20	OR5H1	5	2
OR5H15	403274	broad.mit.edu	37	3	97887663	97887663	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97887663G>A	uc011bgu.1	+	c.120G>A	c.(118-120)ATG>ATA	p.M40I		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.198675	137.922631	163.447545	60	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97887663	97887663	11571	3	G	A	A	A	611	47	OR5H15	2	2
SLC39A8	64116	broad.mit.edu	37	4	103236956	103236956	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103236956T>C	uc003hwb.1	-	c.251A>G	c.(250-252)CAT>CGT	p.H84R	SLC39A8_uc011ceo.1_Missense_Mutation_p.H84R|SLC39A8_uc003hwa.1_Missense_Mutation_p.H17R|SLC39A8_uc003hwc.2_Missense_Mutation_p.H84R	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter),	84	Cytoplasmic (Potential).					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)										0.051282	-14.050578	10.898275	6	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103236956	103236956	15121	4	T	C	C	C	663	51	SLC39A8	4	4
GAR1	54433	broad.mit.edu	37	4	110745573	110745573	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110745573G>T	uc003hzt.2	+	c.641_splice	c.e7-1	p.G214_splice	GAR1_uc003hzu.2_Splice_Site_SNP_p.G214_splice|GAR1_uc010imi.2_Splice_Site_SNP_p.G196_splice	NM_018983	NP_061856			nucleolar protein family A, member 1						rRNA processing	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding				0														0.104478	12.244821	33.102424	14	120	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	110745573	110745573	6504	4	G	T	T	T	455	35	GAR1	5	2
ANK2	287	broad.mit.edu	37	4	114294557	114294557	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114294557C>A	uc003ibe.3	+	c.11811C>A	c.(11809-11811)TCC>TCA	p.S3937S	ANK2_uc003ibd.3_Silent_p.S1843S|ANK2_uc003ibf.3_Silent_p.S1852S|ANK2_uc011cgc.1_Silent_p.S1028S|ANK2_uc003ibg.3_Silent_p.S867S|ANK2_uc003ibh.3_Silent_p.S557S|ANK2_uc011cgd.1_Silent_p.S1239S|ANK2_uc010imr.2_Silent_p.S19S|ANK2_uc010ims.2_Silent_p.S19S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3904					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.1	12.742962	35.11981	14	126	KEEP	---	---	---	---	capture		Silent	SNP	114294557	114294557	624	4	C	A	A	A	262	21	ANK2	2	2
PDE5A	8654	broad.mit.edu	37	4	120527900	120527900	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:120527900C>A	uc003idh.2	-	c.705G>T	c.(703-705)GCG>GCT	p.A235A	PDE5A_uc003idf.2_Silent_p.A193A|PDE5A_uc003idg.2_Silent_p.A183A	NM_001083	NP_001074	O76074	PDE5A_HUMAN	phosphodiesterase 5A isoform 1	235	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding				0					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)									0.160714	43.944469	62.347691	27	141	KEEP	---	---	---	---	capture		Silent	SNP	120527900	120527900	12065	4	C	A	A	A	340	27	PDE5A	1	1
NUDT6	11162	broad.mit.edu	37	4	123814263	123814263	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123814263T>G	uc003iew.2	-	c.671A>C	c.(670-672)TAT>TCT	p.Y224S	FGF2_uc003iev.1_3'UTR|NUDT6_uc003iex.2_Missense_Mutation_p.Y55S	NM_007083	NP_009014	P53370	NUDT6_HUMAN	nudix-type motif 6 isoform a	224	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity				0														0.1125	10.32046	22.179274	9	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123814263	123814263	11148	4	T	G	G	G	637	49	NUDT6	4	4
FAT4	79633	broad.mit.edu	37	4	126370417	126370417	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126370417G>T	uc003ifj.3	+	c.8246G>T	c.(8245-8247)GGG>GTG	p.G2749V	FAT4_uc011cgp.1_Missense_Mutation_p.G1047V|FAT4_uc003ifi.1_Missense_Mutation_p.G227V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2749	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.150538	20.185957	31.080034	14	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126370417	126370417	5928	4	G	T	T	T	559	43	FAT4	2	2
PCDH18	54510	broad.mit.edu	37	4	138452072	138452072	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:138452072G>T	uc003ihe.3	-	c.1171C>A	c.(1171-1173)CTG>ATG	p.L391M	PCDH18_uc003ihf.3_Missense_Mutation_p.L384M|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.L171M|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	391	Cadherin 4.|Extracellular (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.0625	-7.011409	12.129902	6	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138452072	138452072	11933	4	G	T	T	T	438	34	PCDH18	2	2
UCP1	7350	broad.mit.edu	37	4	141489083	141489083	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:141489083G>T	uc011chj.1	-	c.175C>A	c.(175-177)CTG>ATG	p.L59M	UCP1_uc011chk.1_Missense_Mutation_p.L59M	NM_021833	NP_068605	P25874	UCP1_HUMAN	uncoupling protein 1	59	Solcar 1.				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	all_hematologic(180;0.162)													0.1	2.367424	13.57122	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141489083	141489083	17488	4	G	T	T	T	451	35	UCP1	2	2
ZNF330	27309	broad.mit.edu	37	4	142152618	142152618	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:142152618G>C	uc003iiq.3	+	c.549G>C	c.(547-549)CAG>CAC	p.Q183H	ZNF330_uc011chl.1_Missense_Mutation_p.Q123H	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	183	C4-type 4 (Potential).					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding				0	all_hematologic(180;0.162)													0.142857	26.255976	39.164485	15	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142152618	142152618	18440	4	G	C	C	C	438	34	ZNF330	3	3
IL15	3600	broad.mit.edu	37	4	142650999	142650999	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:142650999G>T	uc003iis.2	+	c.241_splice	c.e7-1	p.P81_splice	IL15_uc003iit.2_Splice_Site_SNP_p.P81_splice|IL15_uc010iol.2_Splice_Site_SNP|IL15_uc003iiu.2_Splice_Site_SNP	NM_000585	NP_000576			interleukin 15 preproprotein						cell-cell signaling|immune response|positive regulation of inflammatory response|positive regulation of interleukin-17 production|positive regulation of tissue remodeling	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity				0	all_hematologic(180;0.158)					Pancreas(10;184 986 25902)								0.068182	-1.812743	6.677227	3	41	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	142650999	142650999	7932	4	G	T	T	T	442	34	IL15	5	2
INPP4B	8821	broad.mit.edu	37	4	143067139	143067139	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:143067139C>A	uc003iix.3	-	c.1574G>T	c.(1573-1575)TGG>TTG	p.W525L	INPP4B_uc003iiw.3_Missense_Mutation_p.W525L|INPP4B_uc011chm.1_Non-coding_Transcript|INPP4B_uc011chn.1_Missense_Mutation_p.W340L|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Missense_Mutation_p.W396L	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	525					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)									564				0.111801	38.062674	86.019682	36	286	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143067139	143067139	8054	4	C	A	A	A	273	21	INPP4B	2	2
FSTL5	56884	broad.mit.edu	37	4	162307360	162307360	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:162307360C>A	uc003iqh.2	-	c.2083G>T	c.(2083-2085)GGC>TGC	p.G695C	FSTL5_uc003iqi.2_Missense_Mutation_p.G694C|FSTL5_uc010iqv.2_Missense_Mutation_p.G685C	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	695						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)										0.174419	29.773634	38.375291	15	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162307360	162307360	6331	4	C	A	A	A	286	22	FSTL5	2	2
FSTL5	56884	broad.mit.edu	37	4	162697113	162697113	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:162697113G>A	uc003iqh.2	-	c.523C>T	c.(523-525)CGG>TGG	p.R175W	FSTL5_uc003iqi.2_Missense_Mutation_p.R174W|FSTL5_uc010iqv.2_Missense_Mutation_p.R174W	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	175	EF-hand 1.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)										0.061728	-4.97959	11.239798	5	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162697113	162697113	6331	4	G	A	A	A	480	37	FSTL5	1	1
ANP32C	23520	broad.mit.edu	37	4	165118764	165118764	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:165118764G>T	uc011cjk.1	-	c.100C>A	c.(100-102)CTC>ATC	p.L34I	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	34											0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)										0.072727	-6.473437	34.849682	16	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165118764	165118764	715	4	G	T	T	T	468	36	ANP32C	2	2
DDX60L	91351	broad.mit.edu	37	4	169336818	169336818	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169336818T>A	uc003irq.3	-	c.2859A>T	c.(2857-2859)GAA>GAT	p.E953D	DDX60L_uc003irr.1_Missense_Mutation_p.E953D|DDX60L_uc003irs.1_Missense_Mutation_p.E648D	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	953							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)										0.111111	4.007143	8.042047	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169336818	169336818	4550	4	T	A	A	A	725	56	DDX60L	3	3
DDX60L	91351	broad.mit.edu	37	4	169351700	169351700	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169351700T>A	uc003irq.3	-	c.1606A>T	c.(1606-1608)ACG>TCG	p.T536S	DDX60L_uc003irr.1_Missense_Mutation_p.T536S|DDX60L_uc003irs.1_Missense_Mutation_p.T263S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	536							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)										0.095238	2.769121	9.674155	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169351700	169351700	4550	4	T	A	A	A	741	57	DDX60L	3	3
MFAP3L	9848	broad.mit.edu	37	4	170913132	170913132	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170913132G>A	uc003isp.3	-	c.627C>T	c.(625-627)CCC>CCT	p.P209P	MFAP3L_uc003isn.3_Silent_p.P106P	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	209	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)										0.056075	-9.879929	12.237326	6	101	KEEP	---	---	---	---	capture		Silent	SNP	170913132	170913132	9906	4	G	A	A	A	600	47	MFAP3L	2	2
MORF4	10934	broad.mit.edu	37	4	174537782	174537782	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:174537782C>A	uc011cke.1	-	c.13G>T	c.(13-15)GCC>TCC	p.A5S		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)										0.191964	89.588268	109.45757	43	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174537782	174537782	10096	4	C	A	A	A	325	25	MORF4	2	2
ADAM29	11086	broad.mit.edu	37	4	175898174	175898174	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:175898174G>T	uc003iuc.2	+	c.1498G>T	c.(1498-1500)GAC>TAC	p.D500Y	ADAM29_uc003iud.2_Missense_Mutation_p.D500Y|ADAM29_uc010irr.2_Missense_Mutation_p.D500Y|ADAM29_uc011cki.1_Missense_Mutation_p.D500Y	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29 preproprotein	500	Cys-rich.|Extracellular (Potential).				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(1)	10		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		Ovarian(140;1727 1835 21805 25838 41440)				106				0.125	39.41302	71.286603	29	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175898174	175898174	248	4	G	T	T	T	585	45	ADAM29	2	2
GBA3	57733	broad.mit.edu	37	4	22749030	22749030	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:22749030G>C	uc003gqp.3	+	c.398G>C	c.(397-399)TGG>TCG	p.W133S	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.W134S	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	133					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0														0.171429	42.508439	56.80838	24	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22749030	22749030	6534	4	G	C	C	C	611	47	GBA3	3	3
TLR10	81793	broad.mit.edu	37	4	38777082	38777082	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:38777082C>A	uc003gti.2	-	c.130G>T	c.(130-132)GCA>TCA	p.A44S	TLR10_uc003gtj.2_Missense_Mutation_p.A44S|TLR10_uc003gtk.2_Missense_Mutation_p.A44S	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN	toll-like receptor 10 precursor	44	Extracellular (Potential).|LRR 1.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity				0														0.075	-0.979931	6.409792	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38777082	38777082	16480	4	C	A	A	A	351	27	TLR10	1	1
KLB	152831	broad.mit.edu	37	4	39436088	39436088	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39436088G>T	uc003gua.2	+	c.1084G>T	c.(1084-1086)GAG>TAG	p.E362*	KLB_uc011byj.1_Nonsense_Mutation_p.E362*	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	362	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1														0.108696	9.691441	23.641966	10	82	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39436088	39436088	8644	4	G	T	T	T	585	45	KLB	5	2
UCHL1	7345	broad.mit.edu	37	4	41270006	41270006	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:41270006C>A	uc003gvo.2	+	c.588C>A	c.(586-588)GAC>GAA	p.D196E	UCHL1_uc003gvp.2_Missense_Mutation_p.D115E|UCHL1_uc003gvq.2_Missense_Mutation_p.D115E|UCHL1_uc003gvr.2_Missense_Mutation_p.D115E|UCHL1_uc003gvs.2_Missense_Mutation_p.D115E	NM_004181	NP_004172	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1	196					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)	1														0.111111	4.109469	8.142299	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41270006	41270006	17478	4	C	A	A	A	246	19	UCHL1	1	1
LYAR	55646	broad.mit.edu	37	4	4283554	4283554	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:4283554C>A	uc011bvy.1	-	c.193G>T	c.(193-195)GGT>TGT	p.G65C	LYAR_uc011bvx.1_5'Flank|LYAR_uc003ght.2_Missense_Mutation_p.G65C	NM_001145725	NP_001139197	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive homolog	65						nucleolus	metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.03681	-25.83791	12.012568	6	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4283554	4283554	9480	4	C	A	A	A	312	24	LYAR	2	2
FRYL	285527	broad.mit.edu	37	4	48607768	48607768	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48607768G>A	uc003gyh.1	-	c.824C>T	c.(823-825)CCT>CTT	p.P275L	FRYL_uc003gyk.2_Missense_Mutation_p.P275L	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.135135	26.367436	40.672868	15	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48607768	48607768	6314	4	G	A	A	A	455	35	FRYL	2	2
SCFD2	152579	broad.mit.edu	37	4	54179819	54179819	+	Silent	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:54179819T>A	uc003gzu.2	-	c.1119A>T	c.(1117-1119)CCA>CCT	p.P373P	SCFD2_uc010igm.2_Silent_p.P373P	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	373					protein transport|vesicle docking involved in exocytosis					ovary(2)|pancreas(1)	3			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)											0.117647	6.112916	13.444792	6	45	KEEP	---	---	---	---	capture		Silent	SNP	54179819	54179819	14371	4	T	A	A	A	808	63	SCFD2	3	3
UGT2B15	7366	broad.mit.edu	37	4	69535947	69535947	+	Silent	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69535947A>G	uc011cal.1	-	c.390T>C	c.(388-390)GAT>GAC	p.D130D		NM_001076	NP_001067	P54855	UDB15_HUMAN	UDP glycosyltransferase 2B15 precursor	130					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.059072	-19.937656	28.313497	14	223	KEEP	---	---	---	---	capture		Silent	SNP	69535947	69535947	17516	4	A	G	G	G	102	8	UGT2B15	4	4
ANKRD17	26057	broad.mit.edu	37	4	73964157	73964157	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:73964157C>A	uc003hgp.2	-	c.4654G>T	c.(4654-4656)GCA>TCA	p.A1552S	ANKRD17_uc003hgo.2_Missense_Mutation_p.A1439S|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1301S|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1551S	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1552					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(2)|lung(1)	8	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)											0.08046	-0.446375	15.170604	7	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73964157	73964157	649	4	C	A	A	A	338	26	ANKRD17	2	2
ENOPH1	58478	broad.mit.edu	37	4	83375948	83375948	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:83375948G>T	uc003hmv.2	+	c.463G>T	c.(463-465)GGG>TGG	p.G155W	ENOPH1_uc003hmw.2_Missense_Mutation_p.G67W|ENOPH1_uc003hmx.2_Missense_Mutation_p.G9W	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	155					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	acireductone synthase activity|metal ion binding|phosphoglycolate phosphatase activity				0														0.075472	-2.7834	16.809335	8	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83375948	83375948	5317	4	G	T	T	T	455	35	ENOPH1	2	2
BMPR1B	658	broad.mit.edu	37	4	96052579	96052579	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96052579G>A	uc003htm.3	+	c.992G>A	c.(991-993)CGA>CAA	p.R331Q	BMPR1B_uc010ilb.2_Missense_Mutation_p.R331Q|BMPR1B_uc003htn.3_Missense_Mutation_p.R331Q	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	331	Cytoplasmic (Potential).|Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|protein phosphorylation	integral to plasma membrane|receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(2)|stomach(1)|skin(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)						166				0.128049	30.783561	52.876896	21	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96052579	96052579	1495	4	G	A	A	A	481	37	BMPR1B	1	1
SLCO6A1	133482	broad.mit.edu	37	5	101795359	101795359	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:101795359C>A	uc003knn.2	-	c.1021_splice	c.e5+1	p.G341_splice	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Splice_Site_SNP_p.G341_splice|SLCO6A1_uc003knq.2_Splice_Site_SNP_p.G279_splice	NM_173488	NP_775759			solute carrier organic anion transporter family,							integral to membrane|plasma membrane	transporter activity			ovary(3)|central_nervous_system(1)	4		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)										0.178161	64.420206	81.388921	31	143	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	101795359	101795359	15229	5	C	A	A	A	234	18	SLCO6A1	5	2
FTMT	94033	broad.mit.edu	37	5	121188108	121188108	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:121188108G>C	uc003kss.2	+	c.450G>C	c.(448-450)CAG>CAC	p.Q150H		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	150	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|oxidation-reduction process|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)										0.208791	42.377909	49.521948	19	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121188108	121188108	6336	5	G	C	C	C	451	35	FTMT	3	3
MEGF10	84466	broad.mit.edu	37	5	126770432	126770432	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126770432G>C	uc003kuh.3	+	c.1894G>C	c.(1894-1896)GTT>CTT	p.V632L	MEGF10_uc003kui.3_Missense_Mutation_p.V632L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	632	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)										0.151515	10.658162	14.491594	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126770432	126770432	9849	5	G	C	C	C	520	40	MEGF10	3	3
FBN2	2201	broad.mit.edu	37	5	127641273	127641273	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127641273G>T	uc003kuu.2	-	c.5604C>A	c.(5602-5604)ATC>ATA	p.I1868I		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1868	EGF-like 30; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.193182	35.723455	43.460559	17	71	KEEP	---	---	---	---	capture		Silent	SNP	127641273	127641273	5939	5	G	T	T	T	577	45	FBN2	2	2
ADAMTS19	171019	broad.mit.edu	37	5	128984536	128984536	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:128984536C>A	uc003kvb.1	+	c.2031C>A	c.(2029-2031)TAC>TAA	p.Y677*	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	677	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)	8		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)					p.Y677*(LU65-Tumor)	425				0.181818	50.477201	61.984287	22	99	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	128984536	128984536	265	5	C	A	A	A	220	17	ADAMTS19	5	2
PCDHA1	56147	broad.mit.edu	37	5	140168198	140168198	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140168198G>T	uc003lhb.2	+	c.2323G>T	c.(2323-2325)GGC>TGC	p.G775C	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.G775C	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	775	Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.166667	11.733638	15.521229	6	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140168198	140168198	11939	5	G	T	T	T	455	35	PCDHA1	2	2
PCDHA7	56141	broad.mit.edu	37	5	140215966	140215966	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140215966G>A	uc003lhq.2	+	c.1998G>A	c.(1996-1998)CTG>CTA	p.L666L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.L666L	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	666	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			NSCLC(160;258 2013 5070 22440 28951)								0.280702	42.374739	44.839473	16	41	KEEP	---	---	---	---	capture		Silent	SNP	140215966	140215966	11949	5	G	A	A	A	600	47	PCDHA7	2	2
PCDHA11	56138	broad.mit.edu	37	5	140249660	140249660	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140249660G>A	uc003lia.2	+	c.972G>A	c.(970-972)AAG>AAA	p.K324K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.K324K	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	324	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.181818	13.42957	16.568442	6	27	KEEP	---	---	---	---	capture		Silent	SNP	140249660	140249660	11941	5	G	A	A	A	451	35	PCDHA11	2	2
PCDHB1	29930	broad.mit.edu	37	5	140432413	140432413	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140432413G>T	uc003lik.1	+	c.1358G>T	c.(1357-1359)CGG>CTG	p.R453L		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	453	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.231884	42.067047	46.607951	16	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140432413	140432413	11954	5	G	T	T	T	507	39	PCDHB1	1	1
PCDHB13	56123	broad.mit.edu	37	5	140594521	140594521	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140594521G>A	uc003lja.1	+	c.826G>A	c.(826-828)GGA>AGA	p.G276R		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	276	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.190265	98.102706	118.366837	43	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140594521	140594521	11958	5	G	A	A	A	507	39	PCDHB13	1	1
PCDHB14	56122	broad.mit.edu	37	5	140605189	140605189	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140605189G>T	uc003ljb.2	+	c.2112G>T	c.(2110-2112)TCG>TCT	p.S704S	PCDHB14_uc011dal.1_Silent_p.S551S	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	704	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			Ovarian(141;50 1831 27899 33809 37648)								0.235955	55.635724	61.304475	21	68	KEEP	---	---	---	---	capture		Silent	SNP	140605189	140605189	11959	5	G	T	T	T	496	39	PCDHB14	1	1
TRIO	7204	broad.mit.edu	37	5	14507326	14507326	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14507326T>A	uc003jff.2	+	c.8708T>A	c.(8707-8709)GTC>GAC	p.V2903D	TRIO_uc003jfg.2_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2903	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|breast(2)|stomach(1)|kidney(1)	16	Lung NSC(4;0.000742)									1300				0.115385	3.008427	6.795275	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14507326	14507326	17102	5	T	A	A	A	754	58	TRIO	3	3
ARHGEF37	389337	broad.mit.edu	37	5	148989257	148989257	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148989257G>A	uc003lra.1	+	c.457G>A	c.(457-459)GTG>ATG	p.V153M		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	hypothetical protein LOC389337	153	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0														0.190476	7.990623	9.869516	4	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148989257	148989257	921	5	G	A	A	A	572	44	ARHGEF37	2	2
NHP2	55651	broad.mit.edu	37	5	177580533	177580533	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:177580533C>A	uc003mir.2	-	c.189G>T	c.(187-189)GGG>GGT	p.G63G	NHP2_uc003mis.2_Silent_p.G63G	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	nucleolar protein family A, member 2 isoform a	63					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding				0														0.117647	3.381015	8.266566	4	30	KEEP	---	---	---	---	capture		Silent	SNP	177580533	177580533	10809	5	C	A	A	A	275	22	NHP2	2	2
AGXT2L2	85007	broad.mit.edu	37	5	177641884	177641884	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:177641884C>T	uc003miz.2	-	c.1085G>A	c.(1084-1086)GGT>GAT	p.G362D	AGXT2L2_uc003miy.2_Missense_Mutation_p.G87D|AGXT2L2_uc003mjc.2_Missense_Mutation_p.G321D|AGXT2L2_uc003mja.2_Non-coding_Transcript|AGXT2L2_uc003mjb.2_Missense_Mutation_p.G87D|AGXT2L2_uc003mjd.1_Missense_Mutation_p.G220D	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	362						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)									0.203704	21.88328	26.309594	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177641884	177641884	410	5	C	T	T	T	234	18	AGXT2L2	2	2
CDH18	1016	broad.mit.edu	37	5	19473591	19473591	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19473591G>A	uc003jgc.2	-	c.2117C>T	c.(2116-2118)ACC>ATC	p.T706I	CDH18_uc003jgd.2_Missense_Mutation_p.T706I|CDH18_uc011cnm.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	706	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.136646	33.957815	54.521233	22	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19473591	19473591	3232	5	G	A	A	A	572	44	CDH18	2	2
CDH18	1016	broad.mit.edu	37	5	19591206	19591206	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:19591206G>T	uc003jgc.2	-	c.959C>A	c.(958-960)ACT>AAT	p.T320N	CDH18_uc003jgd.2_Missense_Mutation_p.T320N|CDH18_uc011cnm.1_Missense_Mutation_p.T320N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	320	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)	6	Lung NSC(1;0.00734)|all_lung(1;0.0197)													0.111842	18.557587	41.190946	17	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19591206	19591206	3232	5	G	T	T	T	468	36	CDH18	2	2
CDH12	1010	broad.mit.edu	37	5	21817109	21817109	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21817109A>T	uc010iuc.2	-	c.947T>A	c.(946-948)TTG>TAG	p.L316*	CDH12_uc011cno.1_Nonsense_Mutation_p.L276*|CDH12_uc003jgk.2_Nonsense_Mutation_p.L316*	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	316	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.189349	74.520399	89.760353	32	137	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21817109	21817109	3227	5	A	T	T	T	65	5	CDH12	5	3
CDH12	1010	broad.mit.edu	37	5	22078649	22078649	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:22078649C>A	uc010iuc.2	-	c.137G>T	c.(136-138)CGG>CTG	p.R46L	CDH12_uc011cno.1_Missense_Mutation_p.R46L|CDH12_uc003jgk.2_Missense_Mutation_p.R46L	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	46					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.086957	6.710377	54.361946	24	252	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22078649	22078649	3227	5	C	A	A	A	299	23	CDH12	1	1
PRDM9	56979	broad.mit.edu	37	5	23509638	23509638	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23509638G>A	uc003jgo.2	+	c.129G>A	c.(127-129)ATG>ATA	p.M43I		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	43	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.120603	30.682576	58.757068	24	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23509638	23509638	12906	5	G	A	A	A	611	47	PRDM9	2	2
CAPSL	133690	broad.mit.edu	37	5	35904652	35904652	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35904652G>A	uc003jjt.1	-	c.622C>T	c.(622-624)CTT>TTT	p.L208F	CAPSL_uc003jju.1_Missense_Mutation_p.L208F	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	208						cytoplasm	calcium ion binding				0	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)											0.149533	29.929415	42.534778	16	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35904652	35904652	2758	5	G	A	A	A	442	34	CAPSL	2	2
SLC1A3	6507	broad.mit.edu	37	5	36679861	36679861	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36679861C>A	uc003jkj.3	+	c.993C>A	c.(991-993)ATC>ATA	p.I331I	SLC1A3_uc011cox.1_Silent_p.I224I|SLC1A3_uc010iuy.2_Silent_p.I331I	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	331	Helical; (Potential).				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)									0.242857	129.718084	142.390216	51	159	KEEP	---	---	---	---	capture		Silent	SNP	36679861	36679861	14929	5	C	A	A	A	395	31	SLC1A3	1	1
OSMR	9180	broad.mit.edu	37	5	38885471	38885471	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38885471G>T	uc003jln.1	+	c.724G>T	c.(724-726)GAC>TAC	p.D242Y	OSMR_uc003jlm.1_Missense_Mutation_p.D242Y	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	242	Extracellular (Potential).				cell proliferation|positive regulation of acute inflammatory response|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_lung(31;0.000365)													0.085366	0.151881	28.723754	14	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38885471	38885471	11703	5	G	T	T	T	533	41	OSMR	2	2
C7	730	broad.mit.edu	37	5	40958161	40958161	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40958161G>T	uc003jmh.2	+	c.1287G>T	c.(1285-1287)AAG>AAT	p.K429N	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	429	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)												0.077778	0.250192	16.661091	7	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40958161	40958161	2482	5	G	T	T	T	451	35	C7	2	2
HMGCS1	3157	broad.mit.edu	37	5	43298642	43298642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43298642C>T	uc003jnr.3	-	c.426G>A	c.(424-426)TGG>TGA	p.W142*	HMGCS1_uc003jnq.3_Nonsense_Mutation_p.W142*	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	142					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0														0.26087	62.154709	66.919279	24	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43298642	43298642	7523	5	C	T	T	T	390	30	HMGCS1	5	2
HMGCS1	3157	broad.mit.edu	37	5	43299016	43299016	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:43299016C>A	uc003jnr.3	-	c.52G>T	c.(52-54)GGA>TGA	p.G18*	HMGCS1_uc003jnq.3_Nonsense_Mutation_p.G18*	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN	hydroxymethylglutaryl-CoA synthase 1	18					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0														0.252874	53.805206	58.633213	22	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43299016	43299016	7523	5	C	A	A	A	286	22	HMGCS1	5	2
HCN1	348980	broad.mit.edu	37	5	45262890	45262890	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:45262890C>A	uc003jok.2	-	c.1806G>T	c.(1804-1806)CTG>CTT	p.L602L		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	602	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.065789	-3.987788	10.882843	5	71	KEEP	---	---	---	---	capture		Silent	SNP	45262890	45262890	7278	5	C	A	A	A	314	25	HCN1	2	2
SKIV2L2	23517	broad.mit.edu	37	5	54645457	54645457	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54645457G>A	uc003jpy.3	+	c.1297G>A	c.(1297-1299)GAT>AAT	p.D433N	SKIV2L2_uc011cqi.1_Missense_Mutation_p.D332N	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	433	Helicase C-terminal.				maturation of 5.8S rRNA|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)	1		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				Melanoma(2;92 134 23744 29976 33782)								0.097561	3.068861	9.717964	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54645457	54645457	14855	5	G	A	A	A	481	37	SKIV2L2	1	1
HTR1A	3350	broad.mit.edu	37	5	63256398	63256398	+	Silent	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:63256398G>C	uc011cqt.1	-	c.1149C>G	c.(1147-1149)GCC>GCG	p.A383A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	383	Helical; Name=7; (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)									0.148936	67.666728	101.019057	42	240	KEEP	---	---	---	---	capture		Silent	SNP	63256398	63256398	7736	5	G	C	C	C	600	47	HTR1A	3	3
ADCY2	108	broad.mit.edu	37	5	7789844	7789844	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7789844C>A	uc003jdz.1	+	c.2559C>A	c.(2557-2559)CGC>CGA	p.R853R	ADCY2_uc011cmo.1_Silent_p.R673R|ADCY2_uc010itm.1_Silent_p.R49R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	853	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.25	38.215303	41.336238	14	42	KEEP	---	---	---	---	capture		Silent	SNP	7789844	7789844	295	5	C	A	A	A	340	27	ADCY2	1	1
FASTKD3	79072	broad.mit.edu	37	5	7867304	7867304	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7867304T>G	uc003jeb.2	-	c.893A>C	c.(892-894)CAA>CCA	p.Q298P	FASTKD3_uc011cmp.1_5'UTR|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	298					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4														0.15	34.585695	48.66651	18	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7867304	7867304	5923	5	T	G	G	G	819	63	FASTKD3	4	4
GPR98	84059	broad.mit.edu	37	5	89990056	89990056	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:89990056G>C	uc003kju.2	+	c.7483G>C	c.(7483-7485)GGT>CGT	p.G2495R	GPR98_uc003kjt.2_Missense_Mutation_p.G201R|GPR98_uc003kjv.2_Missense_Mutation_p.G95R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2495	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.217391	32.254708	37.3784	15	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89990056	89990056	6997	5	G	C	C	C	611	47	GPR98	3	3
SEMA5A	9037	broad.mit.edu	37	5	9202068	9202068	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9202068C>T	uc003jek.2	-	c.931G>A	c.(931-933)GTG>ATG	p.V311M		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	311	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.083333	-0.718007	18.364772	9	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9202068	9202068	14523	5	C	T	T	T	221	17	SEMA5A	2	2
MCHR2	84539	broad.mit.edu	37	6	100403948	100403948	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:100403948A>T	uc003pqh.1	-	c.76T>A	c.(76-78)TAT>AAT	p.Y26N	MCHR2_uc003pqi.1_Missense_Mutation_p.Y26N	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	26	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)										0.163043	28.078918	37.996093	15	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100403948	100403948	9772	6	A	T	T	T	169	13	MCHR2	3	3
DSE	29940	broad.mit.edu	37	6	116720666	116720666	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116720666T>C	uc011ebg.1	+	c.310T>C	c.(310-312)TAC>CAC	p.Y104H	DSE_uc011ebf.1_Missense_Mutation_p.Y85H|DSE_uc003pwq.1_Missense_Mutation_p.Y85H|DSE_uc003pws.2_Missense_Mutation_p.Y85H|DSE_uc003pwt.2_Missense_Mutation_p.Y85H	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	85					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)										0.119403	11.777423	21.280999	8	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116720666	116720666	4958	6	T	C	C	C	637	49	DSE	4	4
C6orf170	221322	broad.mit.edu	37	6	121481242	121481242	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:121481242T>A	uc003pyo.1	-	c.2687A>T	c.(2686-2688)AAT>ATT	p.N896I	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'UTR|C6orf170_uc003pyp.1_Missense_Mutation_p.N456I	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	hypothetical protein LOC221322	896					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(226;0.00521)										0.045455	-16.164288	12.968876	6	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121481242	121481242	2449	6	T	A	A	A	676	52	C6orf170	3	3
GJA1	2697	broad.mit.edu	37	6	121767996	121767996	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:121767996G>T	uc003pyr.2	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I	GJA1_uc011ebo.1_5'UTR|GJA1_uc011ebp.1_5'UTR	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	1					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)									0.12	17.830332	35.54703	15	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121767996	121767996	6668	6	G	T	T	T	611	47	GJA1	2	2
HEY2	23493	broad.mit.edu	37	6	126080723	126080723	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:126080723C>A	uc003qad.2	+	c.789C>A	c.(787-789)ACC>ACA	p.T263T	HEY2_uc011ebr.1_Silent_p.T217T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	263	Ala-rich.				negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|Notch signaling pathway|organ morphogenesis	nucleus	DNA binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)										0.140351	28.838947	43.059313	16	98	KEEP	---	---	---	---	capture		Silent	SNP	126080723	126080723	7362	6	C	A	A	A	288	23	HEY2	1	1
CENPW	387103	broad.mit.edu	37	6	126667464	126667464	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:126667464G>C	uc003qao.2	+	c.240G>C	c.(238-240)AAG>AAC	p.K80N	CENPW_uc003qap.3_Non-coding_Transcript	NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN	hypothetical protein LOC387103	80						chromosome, centromeric region|nucleus	DNA binding				0														0.074627	-3.781056	8.675702	5	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126667464	126667464	3377	6	G	C	C	C	451	35	CENPW	3	3
LAMA2	3908	broad.mit.edu	37	6	129468152	129468152	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129468152T>A	uc003qbn.2	+	c.868T>A	c.(868-870)TAT>AAT	p.Y290N	LAMA2_uc003qbo.2_Missense_Mutation_p.Y290N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	290	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.179487	41.703243	53.014927	21	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129468152	129468152	8929	6	T	A	A	A	689	53	LAMA2	3	3
ENPP1	5167	broad.mit.edu	37	6	132182763	132182763	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132182763T>A	uc011ecf.1	+	c.944T>A	c.(943-945)CTC>CAC	p.L315H	ENPP1_uc003qcy.2_5'UTR	NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	315	Phosphodiesterase.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|regulation of bone mineralization|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			ovary(2)	2	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	Colon(104;336 1535 5856 11019 33782)								0.089552	3.397894	14.792437	6	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132182763	132182763	5322	6	T	A	A	A	702	54	ENPP1	3	3
TAAR9	134860	broad.mit.edu	37	6	132860208	132860208	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132860208G>T	uc011eci.1	+	c.780G>T	c.(778-780)TTG>TTT	p.L260F		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9	260	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		Colon(10;433 445 15992 45047 47213)								0.125	9.09161	16.783395	7	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132860208	132860208	16015	6	G	T	T	T	607	47	TAAR9	2	2
VNN2	8875	broad.mit.edu	37	6	133073612	133073612	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:133073612G>A	uc003qdt.2	-	c.814C>T	c.(814-816)CTA>TTA	p.L272L	VNN2_uc003qds.2_Intron|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.L219L	NM_004665	NP_004656	O95498	VNN2_HUMAN	vanin 2 isoform 1 precursor	272	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity				0				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)										0.098592	10.936509	33.831948	14	128	KEEP	---	---	---	---	capture		Silent	SNP	133073612	133073612	17750	6	G	A	A	A	451	35	VNN2	2	2
GRM1	2911	broad.mit.edu	37	6	146720363	146720363	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146720363C>A	uc010khw.1	+	c.2188C>A	c.(2188-2190)CCT>ACT	p.P730T	GRM1_uc010khv.1_Missense_Mutation_p.P730T|GRM1_uc003qll.2_Missense_Mutation_p.P730T|GRM1_uc011edz.1_Missense_Mutation_p.P730T|GRM1_uc011eea.1_Missense_Mutation_p.P730T	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	730	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.063636	-15.022261	28.56788	14	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146720363	146720363	7075	6	C	A	A	A	286	22	GRM1	2	2
ARID1B	57492	broad.mit.edu	37	6	157527833	157527833	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:157527833C>T	uc003qqn.2	+	c.5504C>T	c.(5503-5505)GCA>GTA	p.A1835V	ARID1B_uc003qqo.2_Missense_Mutation_p.A1795V|ARID1B_uc003qqp.2_Missense_Mutation_p.A1782V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1840					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)	1		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)										0.171429	21.764899	28.904075	12	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157527833	157527833	929	6	C	T	T	T	325	25	ARID1B	2	2
FNDC1	84624	broad.mit.edu	37	6	159642652	159642652	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159642652C>A	uc010kjv.2	+	c.690C>A	c.(688-690)GTC>GTA	p.V230V	FNDC1_uc010kjw.1_Silent_p.V178V	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	230	Fibronectin type-III 2.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)										0.075269	-2.851135	14.361868	7	86	KEEP	---	---	---	---	capture		Silent	SNP	159642652	159642652	6210	6	C	A	A	A	405	32	FNDC1	2	2
IGF2R	3482	broad.mit.edu	37	6	160490963	160490963	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160490963G>T	uc003qta.2	+	c.4316G>T	c.(4315-4317)AGG>ATG	p.R1439M		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1439	10.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)										0.157895	10.625111	14.86676	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160490963	160490963	7877	6	G	T	T	T	455	35	IGF2R	2	2
SLC17A2	10246	broad.mit.edu	37	6	25916033	25916033	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25916033G>T	uc003nfl.2	-	c.994C>A	c.(994-996)CTG>ATG	p.L332M	SLC17A2_uc011dkb.1_Missense_Mutation_p.L332M|SLC17A2_uc011dkc.1_Missense_Mutation_p.L332M	NM_005835	NP_005826	O00624	NPT3_HUMAN	solute carrier family 17 (sodium phosphate),	332	Helical; (Potential).				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1														0.226667	41.138774	46.280813	17	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25916033	25916033	14913	6	G	T	T	T	438	34	SLC17A2	2	2
TUBB2A	7280	broad.mit.edu	37	6	3154116	3154116	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:3154116T>C	uc003mvc.2	-	c.1319A>G	c.(1318-1320)GAG>GGG	p.E440G	TUBB2A_uc003mvb.2_Missense_Mutation_p.E433G|TUBB2A_uc003mvd.2_Missense_Mutation_p.E403G	NM_001069	NP_001060	Q13885	TBB2A_HUMAN	tubulin, beta 2	440					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			skin(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.0895)												0.089286	2.935775	12.470968	5	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3154116	3154116	17309	6	T	C	C	C	702	54	TUBB2A	4	4
SLC26A8	116369	broad.mit.edu	37	6	35945028	35945028	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35945028C>A	uc003olm.2	-	c.1126G>T	c.(1126-1128)GGC>TGC	p.G376C	SLC26A8_uc003oln.2_Missense_Mutation_p.G376C|SLC26A8_uc003oll.2_Missense_Mutation_p.G271C	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	376	Helical; (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2														0.179487	14.80095	18.570091	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35945028	35945028	15020	6	C	A	A	A	286	22	SLC26A8	2	2
KCNK5	8645	broad.mit.edu	37	6	39158990	39158990	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39158990C>A	uc003oon.2	-	c.1176G>T	c.(1174-1176)ATG>ATT	p.M392I		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	392					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)	1														0.142857	6.397538	9.825616	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39158990	39158990	8374	6	C	A	A	A	377	29	KCNK5	2	2
TTBK1	84630	broad.mit.edu	37	6	43226905	43226906	+	Missense_Mutation	DNP	GG	CT	CT	rs55908453		TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43226905_43226906GG>CT	uc003ouq.1	+	c.1146_1147GG>CT	c.(1144-1149)CTGGGC>CTCTGC	p.G383C		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	383					protein phosphorylation	cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)							85				0.269231	19.713331	20.962858	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	43226905	43226906	17230	6	GG	CT	CT	CT	600	47	TTBK1	3	3
C6orf138	442213	broad.mit.edu	37	6	47846611	47846611	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47846611C>A	uc011dwm.1	-	c.1918G>T	c.(1918-1920)GTC>TTC	p.V640F	C6orf138_uc011dwn.1_Missense_Mutation_p.V404F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	657						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.178161	68.518619	85.485891	31	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47846611	47846611	2435	6	C	A	A	A	221	17	C6orf138	2	2
HCRTR2	3062	broad.mit.edu	37	6	55145160	55145160	+	Silent	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55145160T>A	uc003pcl.2	+	c.1023T>A	c.(1021-1023)ACT>ACA	p.T341T	HCRTR2_uc010jzv.2_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	341	Extracellular (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)	2	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)											0.179012	65.077594	80.783788	29	133	KEEP	---	---	---	---	capture		Silent	SNP	55145160	55145160	7285	6	T	A	A	A	704	55	HCRTR2	3	3
GFRAL	389400	broad.mit.edu	37	6	55216276	55216276	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55216276A>T	uc003pcm.1	+	c.596A>T	c.(595-597)CAG>CTG	p.Q199L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	199	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)											0.178707	102.159421	127.718558	47	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55216276	55216276	6619	6	A	T	T	T	91	7	GFRAL	3	3
COL21A1	81578	broad.mit.edu	37	6	56035800	56035800	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56035800C>A	uc003pcs.2	-	c.767G>T	c.(766-768)GGA>GTA	p.G256V	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G256V|COL21A1_uc003pcu.1_Missense_Mutation_p.G256V	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1 precursor	256	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(2)	2	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)											0.230769	27.279394	30.730478	12	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56035800	56035800	3818	6	C	A	A	A	390	30	COL21A1	2	2
F13A1	2162	broad.mit.edu	37	6	6175065	6175065	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6175065G>T	uc003mwv.2	-	c.1495C>A	c.(1495-1497)CTG>ATG	p.L499M	F13A1_uc011dib.1_Missense_Mutation_p.L436M	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	499					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)									0.159091	13.104479	17.970483	7	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6175065	6175065	5534	6	G	T	T	T	451	35	F13A1	2	2
COL19A1	1310	broad.mit.edu	37	6	70856741	70856741	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70856741G>C	uc003pfc.1	+	c.1853G>C	c.(1852-1854)GGG>GCG	p.G618A	COL19A1_uc010kam.1_Missense_Mutation_p.G514A	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	618	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.139535	10.320135	15.717958	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70856741	70856741	3814	6	G	C	C	C	559	43	COL19A1	3	3
COL19A1	1310	broad.mit.edu	37	6	70916936	70916936	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70916936C>A	uc003pfc.1	+	c.3387C>A	c.(3385-3387)CTC>CTA	p.L1129L		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	1129					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.147321	52.733973	79.494606	33	191	KEEP	---	---	---	---	capture		Silent	SNP	70916936	70916936	3814	6	C	A	A	A	405	32	COL19A1	2	2
KHDC1	80759	broad.mit.edu	37	6	73951332	73951332	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:73951332C>A	uc003pgo.2	-	c.634G>T	c.(634-636)GTG>TTG	p.V212L	KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.3_Missense_Mutation_p.V139L	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	212						integral to membrane	RNA binding			skin(1)	1														0.15625	10.583116	14.1688	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73951332	73951332	8450	6	C	A	A	A	247	19	KHDC1	1	1
TTK	7272	broad.mit.edu	37	6	80744816	80744816	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80744816A>T	uc003pjc.2	+	c.1729A>T	c.(1729-1731)AAA>TAA	p.K577*	TTK_uc003pjb.3_Nonsense_Mutation_p.K576*	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	577	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|large_intestine(2)|pancreas(1)	9		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)						471				0.153061	28.061819	39.345497	15	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	80744816	80744816	17275	6	A	T	T	T	169	13	TTK	5	3
IBTK	25998	broad.mit.edu	37	6	82881188	82881188	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:82881188G>A	uc003pjl.1	-	c.4016C>T	c.(4015-4017)CCG>CTG	p.P1339L	IBTK_uc011dyu.1_Missense_Mutation_p.P290L|IBTK_uc011dyv.1_Missense_Mutation_p.P1324L|IBTK_uc011dyw.1_Missense_Mutation_p.P1138L|IBTK_uc010kbi.1_Missense_Mutation_p.P1033L	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	1339					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)										0.070175	-1.442609	9.421333	4	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82881188	82881188	7776	6	G	A	A	A	507	39	IBTK	1	1
SNX14	57231	broad.mit.edu	37	6	86256841	86256841	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:86256841C>T	uc003pkr.2	-	c.1097G>A	c.(1096-1098)TGT>TAT	p.C366Y	SNX14_uc003pkp.2_Missense_Mutation_p.C229Y|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.C314Y|SNX14_uc003pks.2_Missense_Mutation_p.C322Y|SNX14_uc003pkt.2_Missense_Mutation_p.C366Y	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	366	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)										0.142857	6.643048	10.963591	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86256841	86256841	15385	6	C	T	T	T	221	17	SNX14	2	2
GABRR2	2570	broad.mit.edu	37	6	89975453	89975454	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89975453_89975454CG>AT	uc003pnb.2	-	c.842_843CG>AT	c.(841-843)ACG>AAT	p.T281N	GABRR2_uc011dzx.1_Missense_Mutation_p.T157N	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	281	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)										0.084746	1.033864	11.354054	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	89975453	89975454	6428	6	CG	AT	AT	AT	236	19	GABRR2	1	1
EPHA7	2045	broad.mit.edu	37	6	93979224	93979224	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:93979224A>G	uc003poe.2	-	c.1604T>C	c.(1603-1605)CTA>CCA	p.L535P	EPHA7_uc003pof.2_Missense_Mutation_p.L535P|EPHA7_uc011eac.1_Missense_Mutation_p.L535P	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	535	Extracellular (Potential).|Fibronectin type-III 2.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(7)|lung(6)|central_nervous_system(3)|large_intestine(2)|skin(2)|pancreas(1)	21		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)						635				0.140187	28.562987	41.927892	15	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93979224	93979224	5365	6	A	G	G	G	195	15	EPHA7	4	4
MUC17	140453	broad.mit.edu	37	7	100681998	100681998	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100681998C>A	uc003uxp.1	+	c.7301C>A	c.(7300-7302)GCC>GAC	p.A2434D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2434	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|39.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.325203	105.747263	109.087453	40	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100681998	100681998	10368	7	C	A	A	A	338	26	MUC17	2	2
C7orf60	154743	broad.mit.edu	37	7	112472727	112472727	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112472727C>A	uc011kms.1	-	c.555G>T	c.(553-555)TTG>TTT	p.L185F	C7orf60_uc003vgo.1_Missense_Mutation_p.L159F	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	159										ovary(2)	2														0.110092	10.837722	27.225583	12	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112472727	112472727	2514	7	C	A	A	A	324	25	C7orf60	2	2
PTPRZ1	5803	broad.mit.edu	37	7	121659286	121659286	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121659286G>T	uc003vjy.2	+	c.4952G>T	c.(4951-4953)TGT>TTT	p.C1651F	PTPRZ1_uc003vjz.2_Missense_Mutation_p.C791F|PTPRZ1_uc011knt.1_Missense_Mutation_p.C241F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1651	Helical; (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.175439	22.027991	27.67964	10	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121659286	121659286	13272	7	G	T	T	T	624	48	PTPRZ1	2	2
AASS	10157	broad.mit.edu	37	7	121773615	121773615	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121773615T>C	uc003vka.2	-	c.166A>G	c.(166-168)AAG>GAG	p.K56E	AASS_uc011knu.1_Non-coding_Transcript|AASS_uc011knv.1_Non-coding_Transcript|AASS_uc003vkb.2_Missense_Mutation_p.K56E|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	56	Lysine-ketoglutarate reductase.				oxidation-reduction process|protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			ovary(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)									0.210526	48.048525	55.41256	20	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121773615	121773615	25	7	T	C	C	C	819	63	AASS	4	4
SCIN	85477	broad.mit.edu	37	7	12692317	12692317	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:12692317G>T	uc003ssn.3	+	c.2125G>T	c.(2125-2127)GGC>TGC	p.G709C	SCIN_uc010ktt.2_Non-coding_Transcript|SCIN_uc003sso.3_Missense_Mutation_p.G462C	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	709	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)										0.144737	27.812141	46.243371	22	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12692317	12692317	14387	7	G	T	T	T	559	43	SCIN	2	2
CALD1	800	broad.mit.edu	37	7	134618538	134618538	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134618538G>A	uc003vrz.2	+	c.1018G>A	c.(1018-1020)GAG>AAG	p.E340K	CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Missense_Mutation_p.E204K	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	340	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.|2.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0														0.156863	15.769309	21.497042	8	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134618538	134618538	2697	7	G	A	A	A	429	33	CALD1	2	2
CHRM2	1129	broad.mit.edu	37	7	136700125	136700125	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:136700125G>T	uc003vtf.1	+	c.513G>T	c.(511-513)GTG>GTT	p.V171V	CHRM2_uc003vtg.1_Silent_p.V171V|CHRM2_uc003vtj.1_Silent_p.V171V|CHRM2_uc003vtk.1_Silent_p.V171V|CHRM2_uc003vtl.1_Silent_p.V171V|CHRM2_uc003vtm.1_Silent_p.V171V|CHRM2_uc003vti.1_Silent_p.V171V|CHRM2_uc003vto.1_Silent_p.V171V|CHRM2_uc003vtn.1_Silent_p.V171V	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	171	Extracellular (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)									0.298013	124.219198	129.724922	45	106	KEEP	---	---	---	---	capture		Silent	SNP	136700125	136700125	3511	7	G	T	T	T	600	47	CHRM2	2	2
TRPV6	55503	broad.mit.edu	37	7	142569474	142569474	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142569474C>A	uc003wbx.1	-	c.2164G>T	c.(2164-2166)GAA>TAA	p.E722*	TRPV6_uc003wbw.1_Nonsense_Mutation_p.E508*|TRPV6_uc010lou.1_Nonsense_Mutation_p.E593*	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	722	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(1)	1	Melanoma(164;0.059)													0.25	57.861054	63.310952	24	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	142569474	142569474	17151	7	C	A	A	A	390	30	TRPV6	5	2
KEL	3792	broad.mit.edu	37	7	142649603	142649603	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142649603G>C	uc003wcb.2	-	c.1196C>G	c.(1195-1197)CCA>CGA	p.P399R		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)													0.234043	99.919851	112.080023	44	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142649603	142649603	8448	7	G	C	C	C	611	47	KEL	3	3
EPHA1	2041	broad.mit.edu	37	7	143098639	143098639	+	Silent	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143098639T>A	uc003wcz.2	-	c.210A>T	c.(208-210)CCA>CCT	p.P70P		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	70	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)								379				0.175258	68.93733	88.230197	34	160	KEEP	---	---	---	---	capture		Silent	SNP	143098639	143098639	5358	7	T	A	A	A	808	63	EPHA1	3	3
ABP1	26	broad.mit.edu	37	7	150558060	150558060	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150558060C>A	uc003wia.1	+	c.2076C>A	c.(2074-2076)TTC>TTA	p.F692L	ABP1_uc003why.1_Missense_Mutation_p.F673L|ABP1_uc003whz.1_Missense_Mutation_p.F673L	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	673					amine metabolic process|oxidation-reduction process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	Pancreas(195;1227 3054 24912 28503)								0.166667	16.341043	22.030558	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150558060	150558060	99	7	C	A	A	A	389	30	ABP1	2	2
MLL3	58508	broad.mit.edu	37	7	152055719	152055719	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:152055719C>A	uc003wla.2	-	c.203G>T	c.(202-204)AGC>ATC	p.S68I		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	68					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.242187	74.656872	82.419251	31	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152055719	152055719	10012	7	C	A	A	A	364	28	MLL3	2	2
MEOX2	4223	broad.mit.edu	37	7	15652107	15652107	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15652107C>G	uc003stc.2	-	c.820G>C	c.(820-822)GGA>CGA	p.G274R	MEOX2_uc011jxw.1_Missense_Mutation_p.G274R	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	274					blood circulation|multicellular organismal development|regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		Esophageal Squamous(140;197 1769 16409 18257 29929)								0.082902	2.288259	36.395542	16	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15652107	15652107	9863	7	C	G	G	G	286	22	MEOX2	3	3
SNX13	23161	broad.mit.edu	37	7	17833746	17833746	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:17833746G>A	uc003stv.2	-	c.2797C>T	c.(2797-2799)CAT>TAT	p.H933Y	SNX13_uc010kuc.2_Missense_Mutation_p.H730Y|SNX13_uc003stw.1_3'UTR|SNX13_uc010kub.2_Missense_Mutation_p.H339Y	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	944					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)													0.105263	2.870542	8.758079	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17833746	17833746	15384	7	G	A	A	A	598	46	SNX13	2	2
HDAC9	9734	broad.mit.edu	37	7	18767315	18767315	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18767315C>A	uc003sui.2	+	c.1844C>A	c.(1843-1845)TCC>TAC	p.S615Y	HDAC9_uc003sue.2_Missense_Mutation_p.S612Y|HDAC9_uc011jyd.1_Missense_Mutation_p.S612Y|HDAC9_uc003suh.2_Missense_Mutation_p.S612Y|HDAC9_uc003suj.2_Missense_Mutation_p.S571Y|HDAC9_uc003sua.1_Missense_Mutation_p.S590Y|HDAC9_uc010kue.1_Missense_Mutation_p.S267Y	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	612					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)									0.157895	9.656051	16.18735	9	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18767315	18767315	7297	7	C	A	A	A	390	30	HDAC9	2	2
HDAC9	9734	broad.mit.edu	37	7	18875156	18875156	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18875156C>T	uc003sui.2	+	c.2533C>T	c.(2533-2535)CTC>TTC	p.L845F	HDAC9_uc003sue.2_Missense_Mutation_p.L842F|HDAC9_uc011jyd.1_Missense_Mutation_p.L842F|HDAC9_uc003suh.2_Missense_Mutation_p.L842F|HDAC9_uc003suj.2_Missense_Mutation_p.L801F|HDAC9_uc003suk.2_Missense_Mutation_p.L90F	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	842	Histone deacetylase.				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)									0.211538	52.790057	60.793653	22	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18875156	18875156	7297	7	C	T	T	T	260	20	HDAC9	2	2
DNAH11	8701	broad.mit.edu	37	7	21894027	21894027	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21894027T>C	uc003svc.2	+	c.11177T>C	c.(11176-11178)ATT>ACT	p.I3726T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3726					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.152778	21.477504	29.784588	11	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21894027	21894027	4781	7	T	C	C	C	676	52	DNAH11	4	4
IGF2BP3	10643	broad.mit.edu	37	7	23391091	23391091	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23391091C>A	uc003swg.2	-	c.516G>T	c.(514-516)CGG>CGT	p.R172R		NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	172					anatomical structure morphogenesis|negative regulation of translation|regulation of cytokine biosynthetic process|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2														0.170732	13.499601	17.703825	7	34	KEEP	---	---	---	---	capture		Silent	SNP	23391091	23391091	7876	7	C	A	A	A	275	22	IGF2BP3	2	2
IQCE	23288	broad.mit.edu	37	7	2611888	2611888	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2611888G>T	uc003sml.1	+	c.322G>T	c.(322-324)GGC>TGC	p.G108C	IQCE_uc010ksm.1_Missense_Mutation_p.G108C|IQCE_uc011jvy.1_Missense_Mutation_p.G92C|IQCE_uc011jvz.1_Missense_Mutation_p.G43C|IQCE_uc003smo.3_Missense_Mutation_p.G108C|IQCE_uc003smk.3_Missense_Mutation_p.G92C|IQCE_uc003smn.3_Missense_Mutation_p.G43C	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	108											0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)										0.129032	11.758476	20.067253	8	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2611888	2611888	8107	7	G	T	T	T	507	39	IQCE	1	1
CARD11	84433	broad.mit.edu	37	7	2978336	2978336	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2978336G>T	uc003smv.2	-	c.994C>A	c.(994-996)CAG>AAG	p.Q332K		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	332	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)						1492				0.176471	6.119852	7.792694	3	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2978336	2978336	2764	7	G	T	T	T	611	47	CARD11	2	2
CARD11	84433	broad.mit.edu	37	7	2983857	2983857	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2983857G>C	uc003smv.2	-	c.673C>G	c.(673-675)CTC>GTC	p.L225V		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	225	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.L225_K226insI(1)		haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)						1492				0.145161	14.831449	22.344487	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2983857	2983857	2764	7	G	C	C	C	455	35	CARD11	3	3
BMPER	168667	broad.mit.edu	37	7	34085926	34085926	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:34085926G>A	uc011kap.1	+	c.585G>A	c.(583-585)AGG>AGA	p.R195R		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	195	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.113309	67.02887	148.980815	63	493	KEEP	---	---	---	---	capture		Silent	SNP	34085926	34085926	1493	7	G	A	A	A	529	41	BMPER	2	2
SDK1	221935	broad.mit.edu	37	7	4198109	4198109	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4198109G>T	uc003smx.2	+	c.4655G>T	c.(4654-4656)CGC>CTC	p.R1552L	SDK1_uc010kso.2_Missense_Mutation_p.R828L|SDK1_uc003smy.2_Missense_Mutation_p.R39L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1552	Fibronectin type-III 9.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)	5		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.118421	8.931564	19.810434	9	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4198109	4198109	14454	7	G	T	T	T	494	38	SDK1	1	1
HECW1	23072	broad.mit.edu	37	7	43482219	43482219	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43482219A>T	uc003tid.1	+	c.1036A>T	c.(1036-1038)ATC>TTC	p.I346F	HECW1_uc011kbi.1_Missense_Mutation_p.I346F	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	346					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.130435	4.709984	7.764804	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43482219	43482219	7325	7	A	T	T	T	104	8	HECW1	3	3
OGDH	4967	broad.mit.edu	37	7	44713410	44713410	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44713410G>A	uc003tlp.2	+	c.691G>A	c.(691-693)GTG>ATG	p.V231M	OGDH_uc003tlm.2_Missense_Mutation_p.V220M|OGDH_uc003tln.2_Missense_Mutation_p.V220M|OGDH_uc011kbx.1_Missense_Mutation_p.V216M|OGDH_uc011kby.1_Intron|OGDH_uc011kbz.1_Intron|OGDH_uc003tlo.1_Missense_Mutation_p.V53M	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	220					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)	1					NADH(DB00157)									0.206897	37.192049	44.13641	18	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44713410	44713410	11244	7	G	A	A	A	572	44	OGDH	2	2
PKD1L1	168507	broad.mit.edu	37	7	47925346	47925346	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47925346G>A	uc003tny.1	-	c.3143C>T	c.(3142-3144)TCC>TTC	p.S1048F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1048	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.140625	27.018909	42.932389	18	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47925346	47925346	12388	7	G	A	A	A	533	41	PKD1L1	2	2
ABCA13	154664	broad.mit.edu	37	7	48416091	48416091	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48416091G>T	uc003toq.2	+	c.11257G>T	c.(11257-11259)GGC>TGC	p.G3753C	ABCA13_uc010kys.1_Missense_Mutation_p.G827C|ABCA13_uc003tos.1_Missense_Mutation_p.G579C|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3753	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.590038	511.487846	513.334977	154	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48416091	48416091	32	7	G	T	T	T	611	47	ABCA13	2	2
ABCA13	154664	broad.mit.edu	37	7	48431671	48431671	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48431671G>A	uc003toq.2	+	c.11808G>A	c.(11806-11808)TTG>TTA	p.L3936L	ABCA13_uc010kys.1_Silent_p.L1010L|ABCA13_uc003tos.1_Silent_p.L762L|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3936	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.068768	-20.062566	47.158597	24	325	KEEP	---	---	---	---	capture		Silent	SNP	48431671	48431671	32	7	G	A	A	A	594	46	ABCA13	2	2
ABCA13	154664	broad.mit.edu	37	7	48520641	48520641	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48520641A>T	uc003toq.2	+	c.12984A>T	c.(12982-12984)CCA>CCT	p.P4328P	ABCA13_uc010kys.1_Silent_p.P1403P|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.P58P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4328					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.57732	189.912074	190.417504	56	41	KEEP	---	---	---	---	capture		Silent	SNP	48520641	48520641	32	7	A	T	T	T	54	5	ABCA13	3	3
COBL	23242	broad.mit.edu	37	7	51097085	51097085	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:51097085C>A	uc003tps.2	-	c.1879G>T	c.(1879-1881)GAG>TAG	p.E627*	COBL_uc003tpr.3_Nonsense_Mutation_p.E570*|COBL_uc011kcl.1_Nonsense_Mutation_p.E570*|COBL_uc003tpp.3_Nonsense_Mutation_p.E356*|COBL_uc003tpq.3_Nonsense_Mutation_p.E511*|COBL_uc003tpo.3_Nonsense_Mutation_p.E112*	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	570										ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.693333	157.208263	159.721532	52	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	51097085	51097085	3791	7	C	A	A	A	390	30	COBL	5	2
HGF	3082	broad.mit.edu	37	7	81374430	81374430	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81374430C>A	uc003uhl.2	-	c.632G>T	c.(631-633)TGC>TTC	p.C211F	HGF_uc003uhm.2_Missense_Mutation_p.C206F|HGF_uc003uhn.1_Missense_Mutation_p.C211F|HGF_uc003uho.1_Missense_Mutation_p.C206F	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	211	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4									p.C211S(NCIH727-Tumor)	800				0.208333	35.684272	41.356954	15	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81374430	81374430	7369	7	C	A	A	A	325	25	HGF	2	2
CACNA2D1	781	broad.mit.edu	37	7	81620548	81620548	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81620548T>A	uc003uhr.1	-	c.1749A>T	c.(1747-1749)AAA>AAT	p.K583N		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	602	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.175258	33.419457	43.064813	17	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81620548	81620548	2664	7	T	A	A	A	725	56	CACNA2D1	3	3
TFPI2	7980	broad.mit.edu	37	7	93518520	93518520	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:93518520C>A	uc003unb.1	-	c.287G>T	c.(286-288)TGC>TTC	p.C96F	GNGT1_uc003umx.1_Intron|TFPI2_uc003umy.1_Missense_Mutation_p.C96F|TFPI2_uc003umz.1_Missense_Mutation_p.C96F|TFPI2_uc003una.1_Missense_Mutation_p.C85F|TFPI2_uc010lfg.1_Intron	NM_006528	NP_006519	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2 precursor	96	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			pancreas(1)	1	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)											0.253521	92.833616	100.664034	36	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93518520	93518520	16337	7	C	A	A	A	325	25	TFPI2	2	2
LMTK2	22853	broad.mit.edu	37	7	97823189	97823189	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:97823189G>T	uc003upd.1	+	c.3412G>T	c.(3412-3414)GAG>TAG	p.E1138*		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1138					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(8)|pancreas(2)|large_intestine(1)	11	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)								p.E1138K(LNCAPCLONEFGC-Tumor)	547				0.473684	28.678724	28.689647	9	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	97823189	97823189	9188	7	G	T	T	T	481	37	LMTK2	5	1
ZKSCAN1	7586	broad.mit.edu	37	7	99631651	99631651	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99631651G>A	uc003usk.1	+	c.1523G>A	c.(1522-1524)CGG>CAG	p.R508Q	ZKSCAN1_uc003usl.1_Missense_Mutation_p.R472Q|ZKSCAN1_uc003usm.1_Missense_Mutation_p.R295Q	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	508	C2H2-type 5.				regulation of transcription, DNA-dependent|viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)											0.274194	47.061122	49.900774	17	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99631651	99631651	18277	7	G	A	A	A	507	39	ZKSCAN1	1	1
RP1L1	94137	broad.mit.edu	37	8	10467409	10467409	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10467409G>T	uc003wtc.2	-	c.4199C>A	c.(4198-4200)CCA>CAA	p.P1400Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1400					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.130597	51.350619	86.918912	35	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10467409	10467409	14012	8	G	T	T	T	611	47	RP1L1	2	2
RP1L1	94137	broad.mit.edu	37	8	10467546	10467546	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10467546C>T	uc003wtc.2	-	c.4062G>A	c.(4060-4062)GCG>GCA	p.A1354A		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1354					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.116279	12.203942	24.652777	10	76	KEEP	---	---	---	---	capture		Silent	SNP	10467546	10467546	14012	8	C	T	T	T	340	27	RP1L1	1	1
PKHD1L1	93035	broad.mit.edu	37	8	110457307	110457307	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110457307G>T	uc003yne.2	+	c.5209G>T	c.(5209-5211)GGA>TGA	p.G1737*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1737	IPT/TIG 9.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.119171	27.1903	54.674819	23	170	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	110457307	110457307	12397	8	G	T	T	T	559	43	PKHD1L1	5	2
CSMD3	114788	broad.mit.edu	37	8	113933900	113933900	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113933900G>C	uc003ynu.2	-	c.1589C>G	c.(1588-1590)GCT>GGT	p.A530G	CSMD3_uc003ynt.2_Missense_Mutation_p.A490G|CSMD3_uc011lhx.1_Missense_Mutation_p.A426G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	530	Extracellular (Potential).|Sushi 2.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.074468	-6.236693	28.946053	14	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113933900	113933900	4087	8	G	C	C	C	442	34	CSMD3	3	3
UTP23	84294	broad.mit.edu	37	8	117783699	117783699	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:117783699A>G	uc003yoc.2	+	c.368A>G	c.(367-369)CAG>CGG	p.Q123R		NM_032334	NP_115710	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component,	123					rRNA processing	nucleolus					0														0.184615	21.158137	27.227962	12	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117783699	117783699	17665	8	A	G	G	G	91	7	UTP23	4	4
FER1L6	654463	broad.mit.edu	37	8	125015438	125015438	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125015438C>A	uc003yqw.2	+	c.1551C>A	c.(1549-1551)TCC>TCA	p.S517S		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	517	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)											0.045977	-48.187181	28.400945	16	332	KEEP	---	---	---	---	capture		Silent	SNP	125015438	125015438	6052	8	C	A	A	A	275	22	FER1L6	2	2
FER1L6	654463	broad.mit.edu	37	8	125113448	125113448	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125113448C>G	uc003yqw.2	+	c.4994C>G	c.(4993-4995)CCA>CGA	p.P1665R		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1665	C2 6.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|skin(1)	7	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)											0.109375	6.374827	16.050903	7	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125113448	125113448	6052	8	C	G	G	G	273	21	FER1L6	3	3
KIAA0196	9897	broad.mit.edu	37	8	126056113	126056113	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:126056113G>A	uc003yrt.2	-	c.2804C>T	c.(2803-2805)GCC>GTC	p.A935V	KIAA0196_uc011lir.1_Missense_Mutation_p.A787V|KIAA0196_uc003yru.1_Missense_Mutation_p.A509V	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	935					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)											0.2125	38.532291	44.643154	17	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126056113	126056113	8468	8	G	A	A	A	546	42	KIAA0196	2	2
ASAP1	50807	broad.mit.edu	37	8	131136347	131136347	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131136347C>G	uc003yta.1	-	c.1519G>C	c.(1519-1521)GCC>CCC	p.A507P	ASAP1_uc003ysz.1_Missense_Mutation_p.A318P|ASAP1_uc011liw.1_Missense_Mutation_p.A500P	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	507	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4														0.083333	0.696193	7.048532	3	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131136347	131136347	1028	8	C	G	G	G	338	26	ASAP1	3	3
LRRC6	23639	broad.mit.edu	37	8	133637539	133637539	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133637539C>A	uc003ytk.2	-	c.815G>T	c.(814-816)CGG>CTG	p.R272L	LRRC6_uc003ytl.2_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	272						cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)											0.068493	-2.683359	11.372407	5	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133637539	133637539	9391	8	C	A	A	A	299	23	LRRC6	1	1
TG	7038	broad.mit.edu	37	8	133984889	133984889	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133984889G>A	uc003ytw.2	+	c.6102G>A	c.(6100-6102)ATG>ATA	p.M2034I	TG_uc010mdw.2_Missense_Mutation_p.M793I|TG_uc011ljb.1_Missense_Mutation_p.M403I|TG_uc011ljc.1_Missense_Mutation_p.M188I	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2034	Type IIIB.				hormone biosynthetic process|regulation of synaptic transmission|signal transduction		carboxylesterase activity|hormone activity			ovary(8)|breast(4)|pancreas(1)	13	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.163366	59.736801	81.498236	33	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133984889	133984889	16341	8	G	A	A	A	624	48	TG	2	2
ZNF251	90987	broad.mit.edu	37	8	145947717	145947717	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:145947717C>T	uc003zdv.3	-	c.1328G>A	c.(1327-1329)CGT>CAT	p.R443H		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	443	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)										0.098901	6.818053	21.448436	9	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145947717	145947717	18387	8	C	T	T	T	247	19	ZNF251	1	1
PDGFRL	5157	broad.mit.edu	37	8	17447231	17447231	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:17447231A>T	uc003wxr.2	+	c.310A>T	c.(310-312)AGC>TGC	p.S104C		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	104	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity				0				Colorectal(111;0.0752)										0.120968	14.979915	32.419902	15	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17447231	17447231	12084	8	A	T	T	T	143	11	PDGFRL	3	3
SLC25A37	51312	broad.mit.edu	37	8	23428995	23428995	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:23428995A>T	uc003xdo.2	+	c.644A>T	c.(643-645)CAC>CTC	p.H215L	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	215	Helical; Name=4; (Potential).|Solcar 2.				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)										0.105882	7.42845	20.539824	9	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23428995	23428995	14998	8	A	T	T	T	78	6	SLC25A37	3	3
STC1	6781	broad.mit.edu	37	8	23702417	23702417	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:23702417G>T	uc003xdw.1	-	c.610C>A	c.(610-612)CAA>AAA	p.Q204K		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	204					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity				0		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)										0.091549	4.167292	28.044716	13	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23702417	23702417	15795	8	G	T	T	T	611	47	STC1	2	2
KCTD9	54793	broad.mit.edu	37	8	25292931	25292931	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25292931T>C	uc003xeo.2	-	c.761A>G	c.(760-762)AAT>AGT	p.N254S	PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_5'Flank	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	potassium channel tetramerisation domain	254						voltage-gated potassium channel complex	voltage-gated potassium channel activity				0		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)										0.12069	8.581497	16.772846	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25292931	25292931	8422	8	T	C	C	C	676	52	KCTD9	4	4
STMN4	81551	broad.mit.edu	37	8	27098753	27098753	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:27098753C>A	uc011lak.1	-	c.217G>T	c.(217-219)GTC>TTC	p.V73F	STMN4_uc003xfj.2_Missense_Mutation_p.V73F|STMN4_uc011lai.1_Missense_Mutation_p.V73F|STMN4_uc011laj.1_Missense_Mutation_p.V37F|STMN4_uc003xfk.2_Missense_Mutation_p.V46F|STMN4_uc010luo.2_Missense_Mutation_p.V46F	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	stathmin-like 4	46					intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)										0.123288	12.933251	23.059703	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27098753	27098753	15831	8	C	A	A	A	247	19	STMN4	1	1
CSMD1	64478	broad.mit.edu	37	8	2910157	2910157	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2910157C>A	uc011kwk.1	-	c.7490G>T	c.(7489-7491)GGA>GTA	p.G2497V	CSMD1_uc011kwj.1_Missense_Mutation_p.G1826V|CSMD1_uc010lrg.2_Missense_Mutation_p.G565V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2497	Extracellular (Potential).|Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.076923	-0.607986	6.540504	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2910157	2910157	4085	8	C	A	A	A	390	30	CSMD1	2	2
TEX15	56154	broad.mit.edu	37	8	30701798	30701798	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30701798G>T	uc003xil.2	-	c.4736C>A	c.(4735-4737)CCT>CAT	p.P1579H		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1579										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.134831	17.336316	28.845141	12	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30701798	30701798	16306	8	G	T	T	T	455	35	TEX15	2	2
TEX15	56154	broad.mit.edu	37	8	30703672	30703672	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30703672C>T	uc003xil.2	-	c.2862G>A	c.(2860-2862)GAG>GAA	p.E954E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	954										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.075949	-0.616135	13.94602	6	73	KEEP	---	---	---	---	capture		Silent	SNP	30703672	30703672	16306	8	C	T	T	T	259	20	TEX15	2	2
ADAM2	2515	broad.mit.edu	37	8	39618754	39618754	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:39618754C>A	uc003xnj.2	-	c.1554G>T	c.(1552-1554)AAG>AAT	p.K518N	ADAM2_uc003xnk.2_Missense_Mutation_p.K499N|ADAM2_uc011lck.1_Missense_Mutation_p.K518N|ADAM2_uc003xnl.2_Missense_Mutation_p.K392N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	518	Extracellular (Potential).|Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)										0.103448	5.103945	14.187824	6	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39618754	39618754	242	8	C	A	A	A	415	32	ADAM2	2	2
CHRNA6	8973	broad.mit.edu	37	8	42611872	42611872	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42611872G>A	uc003xpj.2	-	c.470C>T	c.(469-471)TCC>TTC	p.S157F	CHRNA6_uc011lcw.1_Missense_Mutation_p.S142F	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	157	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)											0.066038	-4.862183	15.846333	7	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42611872	42611872	3521	8	G	A	A	A	533	41	CHRNA6	2	2
SNTG1	54212	broad.mit.edu	37	8	51705341	51705341	+	Silent	SNP	T	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51705341T>A	uc010lxy.1	+	c.1506T>A	c.(1504-1506)TCT>TCA	p.S502S	SNTG1_uc003xqs.1_Silent_p.S502S|SNTG1_uc010lxz.1_Silent_p.S465S|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	502					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.129032	18.245065	30.699389	12	81	KEEP	---	---	---	---	capture		Silent	SNP	51705341	51705341	15374	8	T	A	A	A	678	53	SNTG1	3	3
ST18	9705	broad.mit.edu	37	8	53084629	53084629	+	Silent	SNP	T	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53084629T>C	uc003xqz.2	-	c.792A>G	c.(790-792)GCA>GCG	p.A264A	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.A229A|ST18_uc011lds.1_Silent_p.A169A|ST18_uc003xra.2_Silent_p.A264A|ST18_uc003xrb.2_Silent_p.A264A	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	264						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)												0.152778	17.679161	25.987897	11	61	KEEP	---	---	---	---	capture		Silent	SNP	53084629	53084629	15730	8	T	C	C	C	704	55	ST18	4	4
NPBWR1	2831	broad.mit.edu	37	8	53852876	53852876	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53852876G>A	uc011ldu.1	+	c.409G>A	c.(409-411)GTG>ATG	p.V137M		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	137	Cytoplasmic (Potential).				synaptic transmission	integral to membrane|plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)												0.333333	16.910533	17.430905	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53852876	53852876	10972	8	G	A	A	A	572	44	NPBWR1	2	2
PENK	5179	broad.mit.edu	37	8	57358389	57358389	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:57358389C>A	uc003xsz.2	-	c.124G>T	c.(124-126)GAC>TAC	p.D42Y	PENK_uc003xta.3_Missense_Mutation_p.D42Y|PENK_uc010lym.2_Missense_Mutation_p.D42Y	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	42					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)	3		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)											0.413793	32.087218	32.276801	12	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57358389	57358389	12148	8	C	A	A	A	403	31	PENK	1	1
NKAIN3	286183	broad.mit.edu	37	8	63831057	63831057	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:63831057G>T	uc010lyq.1	+	c.517G>T	c.(517-519)GAA>TAA	p.E173*		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	173						integral to membrane|plasma membrane					0	Breast(64;0.127)	Lung NSC(129;0.187)												0.133333	4.875985	8.797338	4	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	63831057	63831057	10838	8	G	T	T	T	533	41	NKAIN3	5	2
CSPP1	79848	broad.mit.edu	37	8	68030981	68030981	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68030981G>T	uc003xxi.2	+	c.1712G>T	c.(1711-1713)GGT>GTT	p.G571V	CSPP1_uc003xxg.1_Missense_Mutation_p.G563V|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.2_Missense_Mutation_p.G536V|CSPP1_uc003xxk.2_Missense_Mutation_p.G242V	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	571						microtubule|microtubule organizing center|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)							669				0.26087	29.276476	31.659454	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68030981	68030981	4103	8	G	T	T	T	572	44	CSPP1	2	2
SULF1	23213	broad.mit.edu	37	8	70488290	70488290	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70488290G>T	uc010lza.1	+	c.258G>T	c.(256-258)ATG>ATT	p.M86I	SULF1_uc003xyd.2_Missense_Mutation_p.M86I|SULF1_uc003xye.2_Missense_Mutation_p.M86I|SULF1_uc003xyf.2_Missense_Mutation_p.M86I|SULF1_uc003xyg.2_Missense_Mutation_p.M86I	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	86					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)							473				0.098039	3.848567	12.085023	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70488290	70488290	15890	8	G	T	T	T	624	48	SULF1	2	2
EYA1	2138	broad.mit.edu	37	8	72129059	72129059	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72129059G>C	uc003xys.3	-	c.1228C>G	c.(1228-1230)CCT>GCT	p.P410A	EYA1_uc003xyr.3_Missense_Mutation_p.P375A|EYA1_uc003xyt.3_Missense_Mutation_p.P377A|EYA1_uc010lzf.2_Missense_Mutation_p.P337A|EYA1_uc003xyu.2_Missense_Mutation_p.P410A|EYA1_uc011lfe.1_Missense_Mutation_p.P404A|EYA1_uc003xyv.2_Missense_Mutation_p.P288A	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	410					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)											0.045455	-19.114665	14.937672	7	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72129059	72129059	5522	8	G	C	C	C	533	41	EYA1	3	3
CHMP4C	92421	broad.mit.edu	37	8	82667719	82667720	+	Splice_Site_DNP	DNP	GG	TT	TT			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:82667719_82667720GG>TT	uc003ycl.2	+	c.483_splice	c.e3+1	p.E161_splice		NM_152284	NP_689497			chromatin modifying protein 4C						cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2														0.121212	10.448695	19.740238	8	58	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	82667719	82667720	3492	8	GG	TT	TT	TT	451	35	CHMP4C	5	2
CA3	761	broad.mit.edu	37	8	86357417	86357417	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:86357417C>T	uc003ydj.2	+	c.477C>T	c.(475-477)TTC>TTT	p.F159F	CA3_uc011lfv.1_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	159					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0														0.114286	4.3729	9.508468	4	31	KEEP	---	---	---	---	capture		Silent	SNP	86357417	86357417	2633	8	C	T	T	T	389	30	CA3	2	2
PSKH2	85481	broad.mit.edu	37	8	87060979	87060979	+	Silent	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87060979G>A	uc011lfy.1	-	c.870C>T	c.(868-870)TCC>TCT	p.S290S		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	290	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3			STAD - Stomach adenocarcinoma(118;0.129)							100				0.222222	36.515851	40.988122	14	49	KEEP	---	---	---	---	capture		Silent	SNP	87060979	87060979	13118	8	G	A	A	A	548	43	PSKH2	2	2
OTUD6B	51633	broad.mit.edu	37	8	92090719	92090719	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92090719C>G	uc003yeu.3	+	c.541C>G	c.(541-543)CAG>GAG	p.Q181E	OTUD6B_uc011lgh.1_Missense_Mutation_p.Q50E	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	151	OTU.									ovary(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0187)											0.233333	13.90522	15.864557	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92090719	92090719	11730	8	C	G	G	G	221	17	OTUD6B	3	3
SLC26A7	115111	broad.mit.edu	37	8	92330587	92330587	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92330587C>A	uc003yez.2	+	c.621C>A	c.(619-621)TCC>TCA	p.S207S	SLC26A7_uc003yex.2_Silent_p.S207S|SLC26A7_uc003yey.2_Non-coding_Transcript|SLC26A7_uc003yfa.2_Silent_p.S207S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform b	207	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)											0.06422	-6.252598	15.262773	7	102	KEEP	---	---	---	---	capture		Silent	SNP	92330587	92330587	15019	8	C	A	A	A	288	23	SLC26A7	1	1
RUNX1T1	862	broad.mit.edu	37	8	92988199	92988199	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:92988199C>A	uc011lgi.1	-	c.1315G>T	c.(1315-1317)GCG>TCG	p.A439S	RUNX1T1_uc003yfc.1_Missense_Mutation_p.A401S|RUNX1T1_uc003yfd.2_Missense_Mutation_p.A428S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.A391S|RUNX1T1_uc010mao.2_Missense_Mutation_p.A401S|RUNX1T1_uc010man.1_Missense_Mutation_p.A53S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.A391S	NM_175636	NP_783554	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	428					generation of precursor metabolites and energy|regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|central_nervous_system(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(11;0.0141)							213				0.158273	41.69526	57.142436	22	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92988199	92988199	14227	8	C	A	A	A	351	27	RUNX1T1	1	1
ESRP1	54845	broad.mit.edu	37	8	95680241	95680241	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95680241G>T	uc003ygq.3	+	c.996G>T	c.(994-996)GGG>GGT	p.G332G	ESRP1_uc003ygr.3_Silent_p.G332G|ESRP1_uc003ygs.3_Silent_p.G332G|ESRP1_uc003ygt.3_Silent_p.G332G|ESRP1_uc003ygu.3_Silent_p.G332G|ESRP1_uc003ygv.2_Silent_p.G172G|ESRP1_uc003ygw.2_Silent_p.G172G	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	332	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4														0.171171	33.919518	45.221782	19	92	KEEP	---	---	---	---	capture		Silent	SNP	95680241	95680241	5451	8	G	T	T	T	535	42	ESRP1	2	2
COL15A1	1306	broad.mit.edu	37	9	101788230	101788230	+	Silent	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101788230C>A	uc004azb.1	+	c.2025C>A	c.(2023-2025)CCC>CCA	p.P675P		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	675	Triple-helical region 2 (COL2).				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)												0.206897	13.23497	15.543512	6	23	KEEP	---	---	---	---	capture		Silent	SNP	101788230	101788230	3810	9	C	A	A	A	288	23	COL15A1	1	1
INVS	27130	broad.mit.edu	37	9	102988411	102988411	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:102988411A>T	uc004bap.1	+	c.341A>T	c.(340-342)GAG>GTG	p.E114V	INVS_uc010mta.1_Missense_Mutation_p.E18V|INVS_uc011lve.1_Missense_Mutation_p.E18V|INVS_uc004bao.1_Missense_Mutation_p.E114V|INVS_uc004baq.1_Missense_Mutation_p.E18V|INVS_uc004bar.1_Missense_Mutation_p.E18V|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	114	ANK 4.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)												0.269231	16.211622	17.462651	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102988411	102988411	8088	9	A	T	T	T	143	11	INVS	3	3
MUSK	4593	broad.mit.edu	37	9	113510084	113510084	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113510084G>C	uc004bey.2	+	c.917G>C	c.(916-918)TGG>TCG	p.W306S	MUSK_uc004bex.2_Missense_Mutation_p.R316T	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	306	Extracellular (Potential).				protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(2)|lung(2)|central_nervous_system(1)	5										297				0.23	94.729944	108.1136	46	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113510084	113510084	10383	9	G	C	C	C	455	35	MUSK	3	3
TNC	3371	broad.mit.edu	37	9	117826313	117826313	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117826313G>T	uc004bjj.3	-	c.3522C>A	c.(3520-3522)GCC>GCA	p.A1174A	TNC_uc010mvf.2_Silent_p.A1174A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1174	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.234421	198.992922	220.714587	79	258	KEEP	---	---	---	---	capture		Silent	SNP	117826313	117826313	16811	9	G	T	T	T	496	39	TNC	1	1
ASTN2	23245	broad.mit.edu	37	9	119976722	119976722	+	Silent	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119976722G>T	uc004bjs.1	-	c.930C>A	c.(928-930)CGC>CGA	p.R310R	ASTN2_uc004bjr.1_Silent_p.R310R|ASTN2_uc004bjt.1_Silent_p.R310R	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	310	Cytoplasmic (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.19863	60.502329	72.851119	29	117	KEEP	---	---	---	---	capture		Silent	SNP	119976722	119976722	1084	9	G	T	T	T	483	38	ASTN2	1	1
NDUFA8	4702	broad.mit.edu	37	9	124914641	124914641	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:124914641C>T	uc004blv.2	-	c.98G>A	c.(97-99)GGA>GAA	p.G33E		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	33	CHCH 1.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)									0.213333	39.062009	44.753233	16	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124914641	124914641	10670	9	C	T	T	T	390	30	NDUFA8	2	2
COL5A1	1289	broad.mit.edu	37	9	137693824	137693824	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137693824C>A	uc004cfe.2	+	c.2977C>A	c.(2977-2979)CCA>ACA	p.P993T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	993	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)										0.5625	26.975569	27.029837	9	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137693824	137693824	3834	9	C	A	A	A	390	30	COL5A1	2	2
LCN9	392399	broad.mit.edu	37	9	138557566	138557566	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138557566G>T	uc004cgk.1	+	c.443G>T	c.(442-444)GGC>GTC	p.G148V		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	lipocalin 9	162						extracellular region	pheromone binding|transporter activity			large_intestine(2)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)										0.12	3.209529	6.749763	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138557566	138557566	9011	9	G	T	T	T	546	42	LCN9	2	2
COBRA1	25920	broad.mit.edu	37	9	140166547	140166547	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140166547G>T	uc004cmm.3	+	c.1360G>T	c.(1360-1362)GAC>TAC	p.D454Y		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1	454					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)										0.214286	5.316073	6.37335	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140166547	140166547	3793	9	G	T	T	T	481	37	COBRA1	1	1
FREM1	158326	broad.mit.edu	37	9	14846067	14846067	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14846067C>A	uc003zlm.2	-	c.1284G>T	c.(1282-1284)CAG>CAT	p.Q428H	FREM1_uc010mic.2_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	428	CSPG 2.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.277778	13.767139	14.566966	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14846067	14846067	6291	9	C	A	A	A	259	20	FREM1	2	2
OR2S2	56656	broad.mit.edu	37	9	35957729	35957729	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35957729G>T	uc011lpi.1	-	c.367C>A	c.(367-369)CGC>AGC	p.R123S		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			Pancreas(172;293 2036 17878 24427 30946)								0.181818	20.740543	27.069832	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35957729	35957729	11421	9	G	T	T	T	481	37	OR2S2	1	1
PAX5	5079	broad.mit.edu	37	9	36846906	36846906	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36846906G>T	uc003zzo.1	-	c.1033C>A	c.(1033-1035)CCC>ACC	p.P345T	PAX5_uc011lpt.1_Missense_Mutation_p.P141T|PAX5_uc011lpu.1_Non-coding_Transcript|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.P245T|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.P302T|PAX5_uc011lqa.1_Missense_Mutation_p.P237T|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.P311T|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Silent_p.V267V	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	345					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(139)|central_nervous_system(2)	141		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)						323				0.26087	13.638789	14.830142	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36846906	36846906	11902	9	G	T	T	T	533	41	PAX5	2	2
PAX5	5079	broad.mit.edu	37	9	37020659	37020659	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37020659A>T	uc003zzo.1	-	c.186T>A	c.(184-186)CAT>CAA	p.H62Q	PAX5_uc011lpw.1_Missense_Mutation_p.H62Q|PAX5_uc011lpx.1_Missense_Mutation_p.H62Q|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.H62Q|PAX5_uc011lpz.1_Missense_Mutation_p.H62Q|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.H62Q|PAX5_uc010mlp.1_Missense_Mutation_p.H62Q|PAX5_uc011lqc.1_Missense_Mutation_p.H62Q|PAX5_uc010mlr.1_Missense_Mutation_p.H62Q|PAX5_uc011lqd.1_Missense_Mutation_p.H61Q|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	62	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(31)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(139)|central_nervous_system(2)	141		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)						323				0.12605	24.344599	40.584879	15	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37020659	37020659	11902	9	A	T	T	T	102	8	PAX5	3	3
PAX5	5079	broad.mit.edu	37	9	37020661	37020661	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37020661G>T	uc003zzo.1	-	c.184C>A	c.(184-186)CAT>AAT	p.H62N	PAX5_uc011lpw.1_Missense_Mutation_p.H62N|PAX5_uc011lpx.1_Missense_Mutation_p.H62N|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.H62N|PAX5_uc011lpz.1_Missense_Mutation_p.H62N|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.H62N|PAX5_uc010mlp.1_Missense_Mutation_p.H62N|PAX5_uc011lqc.1_Missense_Mutation_p.H62N|PAX5_uc010mlr.1_Missense_Mutation_p.H62N|PAX5_uc011lqd.1_Missense_Mutation_p.H61N|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	62	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(31)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(139)|central_nervous_system(2)	141		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)						323				0.122807	19.865878	35.742708	14	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37020661	37020661	11902	9	G	T	T	T	611	47	PAX5	2	2
ZNF658	26149	broad.mit.edu	37	9	40773252	40773252	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40773252C>A	uc004abs.2	-	c.2023G>T	c.(2023-2025)GCA>TCA	p.A675S	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.A675S	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	675	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.125828	23.209672	43.882833	19	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40773252	40773252	18664	9	C	A	A	A	364	28	ZNF658	2	2
PIP5K1B	8395	broad.mit.edu	37	9	71509364	71509364	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:71509364G>T	uc004agu.2	+	c.581G>T	c.(580-582)CGC>CTC	p.R194L	PIP5K1B_uc011lrq.1_Missense_Mutation_p.R194L|PIP5K1B_uc004agv.2_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	194	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding				0				Lung(182;0.133)						223				0.204301	45.516099	53.039734	19	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71509364	71509364	12364	9	G	T	T	T	494	38	PIP5K1B	1	1
NTRK2	4915	broad.mit.edu	37	9	87549124	87549124	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:87549124G>A	uc004anz.1	+	c.1681G>A	c.(1681-1683)GGC>AGC	p.G561S	NTRK2_uc004any.1_Missense_Mutation_p.G545S|NTRK2_uc004aoa.1_Missense_Mutation_p.G545S	NM_006180	NP_006171	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	545	Protein kinase.|Cytoplasmic (Potential).|ATP (By similarity).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(1)|liver(1)|central_nervous_system(1)|skin(1)	12										348	TSP Lung(25;0.17)			0.177419	23.784969	29.863896	11	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87549124	87549124	11112	9	G	A	A	A	455	35	NTRK2	2	2
DMRT3	58524	broad.mit.edu	37	9	990261	990262	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:990261_990262GG>AT	uc003zgw.1	+	c.675_676GG>AT	c.(673-678)GCGGAG>GCATAG	p.E226*		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	226					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)										0.135135	7.859723	12.625127	5	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	990261	990262	4767	9	GG	AT	AT	AT	496	39	DMRT3	5	1
MUM1L1	139221	broad.mit.edu	37	X	105449921	105449921	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105449921G>T	uc004emf.1	+	c.496G>T	c.(496-498)GAT>TAT	p.D166Y	MUM1L1_uc004emg.1_Missense_Mutation_p.D166Y	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	166										ovary(2)|pancreas(1)|skin(1)	4														0.133333	5.677715	9.594059	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105449921	105449921	10380	23	G	T	T	T	585	45	MUM1L1	2	2
ODZ1	10178	broad.mit.edu	37	X	123554179	123554179	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123554179C>A	uc010nqy.2	-	c.4964G>T	c.(4963-4965)GGA>GTA	p.G1655V	ODZ1_uc011muj.1_Missense_Mutation_p.G1654V|ODZ1_uc004euj.2_Missense_Mutation_p.G1648V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	1648	Extracellular (Potential).|YD 4.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.225806	31.01507	35.298992	14	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123554179	123554179	11239	23	C	A	A	A	390	30	ODZ1	2	2
DCAF12L2	340578	broad.mit.edu	37	X	125299581	125299581	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125299581C>A	uc004euk.1	-	c.327G>T	c.(325-327)AGG>AGT	p.R109S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	109										lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.135135	5.547664	10.32627	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125299581	125299581	4436	23	C	A	A	A	337	26	DCAF12L2	2	2
GPC4	2239	broad.mit.edu	37	X	132437212	132437212	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132437212C>A	uc004exc.1	-	c.1450G>T	c.(1450-1452)GTG>TTG	p.V484L	GPC4_uc011mvg.1_Missense_Mutation_p.V414L	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	484					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.101266	8.466638	20.974096	8	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132437212	132437212	6874	23	C	A	A	A	247	19	GPC4	1	1
PHEX	5251	broad.mit.edu	37	X	22196457	22196457	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:22196457A>T	uc004dah.2	+	c.1550A>T	c.(1549-1551)GAT>GTT	p.D517V	PHEX_uc011mjr.1_Missense_Mutation_p.D517V|PHEX_uc011mjs.1_Missense_Mutation_p.D420V	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	517	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3														0.230769	24.557385	27.1458	9	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22196457	22196457	12242	23	A	T	T	T	156	12	PHEX	3	3
DCAF8L1	139425	broad.mit.edu	37	X	27999004	27999004	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27999004G>T	uc004dbx.1	-	c.448C>A	c.(448-450)CTG>ATG	p.L150M		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	150										ovary(3)	3														0.235294	18.881113	21.061459	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27999004	27999004	4448	23	G	T	T	T	451	35	DCAF8L1	2	2
FAM47A	158724	broad.mit.edu	37	X	34148422	34148422	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34148422C>A	uc004ddg.2	-	c.1974G>T	c.(1972-1974)ATG>ATT	p.M658I		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	658										ovary(4)|central_nervous_system(1)	5														0.114943	12.687135	25.396403	10	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34148422	34148422	5790	23	C	A	A	A	273	21	FAM47A	2	2
STS	412	broad.mit.edu	37	X	7177473	7177473	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:7177473G>T	uc004cry.3	+	c.481G>T	c.(481-483)GGG>TGG	p.G161W		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	161	Lumenal.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)									0.211268	35.297346	40.762702	15	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7177473	7177473	15852	23	G	T	T	T	611	47	STS	2	2
MAGEE2	139599	broad.mit.edu	37	X	75003400	75003400	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:75003400G>A	uc004ecj.1	-	c.1487C>T	c.(1486-1488)CCA>CTA	p.P496L		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	496	MAGE 2.									ovary(1)	1														0.076923	-0.105644	7.039974	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75003400	75003400	9569	23	G	A	A	A	611	47	MAGEE2	2	2
ZCCHC5	203430	broad.mit.edu	37	X	77912645	77912645	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77912645C>T	uc004edc.1	-	c.1273G>A	c.(1273-1275)GCA>ACA	p.A425T		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	425							nucleic acid binding|zinc ion binding			ovary(1)	1														0.095238	2.16677	9.074551	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77912645	77912645	18179	23	C	T	T	T	325	25	ZCCHC5	2	2
ZCCHC5	203430	broad.mit.edu	37	X	77912649	77912649	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77912649C>T	uc004edc.1	-	c.1269G>A	c.(1267-1269)CAG>CAA	p.Q423Q		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	423							nucleic acid binding|zinc ion binding			ovary(1)	1														0.095238	3.666811	10.573187	4	38	KEEP	---	---	---	---	capture		Silent	SNP	77912649	77912649	18179	23	C	T	T	T	311	24	ZCCHC5	2	2
ITM2A	9452	broad.mit.edu	37	X	78618573	78618573	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78618573C>A	uc004edh.2	-	c.307G>T	c.(307-309)GGA>TGA	p.G103*	ITM2A_uc011mqr.1_Nonsense_Mutation_p.G59*	NM_004867	NP_004858	O43736	ITM2A_HUMAN	integral membrane protein 2A	103						integral to membrane	protein binding			lung(2)	2														0.291667	16.505602	17.445522	7	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	78618573	78618573	8216	23	C	A	A	A	273	21	ITM2A	5	2
POF1B	79983	broad.mit.edu	37	X	84606440	84606440	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84606440G>T	uc004ees.2	-	c.456C>A	c.(454-456)TTC>TTA	p.F152L	POF1B_uc004eer.2_Missense_Mutation_p.F152L	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	152							actin binding				0														0.2	8.08719	9.76294	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84606440	84606440	12610	23	G	T	T	T	529	41	POF1B	2	2
PCDH11X	27328	broad.mit.edu	37	X	91132885	91132885	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91132885C>A	uc004efk.1	+	c.1646C>A	c.(1645-1647)CCC>CAC	p.P549H	PCDH11X_uc004efl.1_Missense_Mutation_p.P549H|PCDH11X_uc004efo.1_Missense_Mutation_p.P549H|PCDH11X_uc010nmv.1_Missense_Mutation_p.P549H|PCDH11X_uc004efm.1_Missense_Mutation_p.P549H|PCDH11X_uc004efn.1_Missense_Mutation_p.P549H|PCDH11X_uc004efh.1_Missense_Mutation_p.P549H|PCDH11X_uc004efj.1_Missense_Mutation_p.P549H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	549	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.183333	23.389605	29.036584	11	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91132885	91132885	11928	23	C	A	A	A	286	22	PCDH11X	2	2
NAP1L3	4675	broad.mit.edu	37	X	92927566	92927566	+	Silent	SNP	A	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:92927566A>T	uc004efq.2	-	c.738T>A	c.(736-738)CCT>CCA	p.P246P	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	246	Glu-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2														0.102941	6.773303	17.453226	7	61	KEEP	---	---	---	---	capture		Silent	SNP	92927566	92927566	10554	23	A	T	T	T	80	7	NAP1L3	3	3
TGIF2LY	90655	broad.mit.edu	37	Y	3447687	3447687	+	Silent	SNP	C	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:3447687C>T	uc004fqk.2	+	c.402C>T	c.(400-402)CAC>CAT	p.H134H		NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	134					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0														0.166667	7.644627	10.831339	5	25	KEEP	---	---	---	---	capture		Silent	SNP	3447687	3447687	16356	24	C	T	T	T	233	18	TGIF2LY	2	2
PCDH11Y	83259	broad.mit.edu	37	Y	5605585	5605585	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:5605585G>T	uc004fqo.2	+	c.3625G>T	c.(3625-3627)GTG>TTG	p.V1209L		NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	1209	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0														0.111111	13.736892	33.916687	15	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5605585	5605585	11929	24	G	T	T	T	572	44	PCDH11Y	2	2
PTDSS2	81490	broad.mit.edu	37	11	460282	460282	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:460282_460282delC	uc001lpj.2	+	c.278_278delC	c.(277-279)ACCfs	p.T93fs	PTDSS2_uc009ybv.1_Frame_Shift_Del_p.T93fs	NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	93	Extracellular (Potential).					integral to membrane					0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)									0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	460282	460282	13191	11	C	-	-	-	234	18	PTDSS2	5	5
CCDC159	126075	broad.mit.edu	37	19	11459665	11459666	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11459665_11459666insA	uc010xlw.1	+	c.64_65insA	c.(64-66)GAGfs	p.E22fs	TMEM205_uc002mrb.2_5'Flank|TMEM205_uc002mra.2_5'Flank|TMEM205_uc002mqz.2_5'Flank|TMEM205_uc002mrc.2_5'Flank|CCDC159_uc010xlr.1_Intron|CCDC159_uc010xls.1_Intron|CCDC159_uc010xlt.1_Intron|CCDC159_uc010xlu.1_Intron|CCDC159_uc010xlv.1_Intron	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	coiled-coil domain-containing-like	54										ovary(1)	1														0.50			4	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	11459665	11459666	2913	19	-	A	A	A	521	41	CCDC159	5	5
CELSR2	1952	broad.mit.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	CGC	CGC	rs72006325		TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109792735_109792736insCGC	uc001dxa.3	+	c.34_35insCGC	c.(34-36)ACG>ACGCCG	p.16_17insP		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	16_17					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of gene-specific transcription|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)	3		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		NSCLC(158;1285 2011 34800 34852 42084)								0.67			4	2		---	---	---	---	capture_indel		In_Frame_Ins	INS	109792735	109792736	3355	1	-	CGC	CGC	CGC	26	2	CELSR2	5	5
CDC42EP1	11135	broad.mit.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	-	-	rs13055845;rs77417880;rs62235033;rs13056859;rs62235034	by1000genomes;by1000genomes;by1000genomes	TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	uc003asz.3	+	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)CCAGCGCCTGCTGCAAACCCCTCA>CCA	p.APAANPS254del		NM_152243	NP_689449	Q00587	BORG5_HUMAN	CDC42 effector protein 1	254_260	6.|8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding				0	Melanoma(58;0.0574)													0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	37964409	37964429	3203	22	CAGCGCCTGCTGCAAACCCCT	-	-	-	273	21	CDC42EP1	5	5
SOBP	55084	broad.mit.edu	37	6	107955839	107955840	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107955839_107955840insC	uc003prx.2	+	c.1791_1792insC	c.(1789-1794)TCGCCCfs	p.S597fs		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	597_598							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	107955839	107955840	15412	6	-	C	C	C	483	38	SOBP	5	5
SSPO	23145	broad.mit.edu	37	7	149524893	149524894	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149524893_149524894insG	uc010lpk.2	+	c.14801_14802insG	c.(14800-14802)CCGfs	p.P4934fs	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Non-coding_Transcript|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Non-coding_Transcript	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4934					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)											0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	149524893	149524894	15705	7	-	G	G	G	299	23	SSPO	5	5
COBL	23242	broad.mit.edu	37	7	51203955	51203955	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:51203955_51203955delC	uc003tps.2	-	c.857_857delG	c.(856-858)GGCfs	p.G286fs	COBL_uc003tpr.3_Frame_Shift_Del_p.G286fs|COBL_uc011kcl.1_Frame_Shift_Del_p.G286fs|COBL_uc010kzc.2_Frame_Shift_Del_p.G286fs|COBL_uc003tpt.2_Frame_Shift_Del_p.G286fs|COBL_uc003tpp.3_Frame_Shift_Del_p.G15fs|COBL_uc003tpq.3_Frame_Shift_Del_p.G227fs	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	286										ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.62			92	57		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	51203955	51203955	3791	7	C	-	-	-	338	26	COBL	5	5
TNRC18	84629	broad.mit.edu	37	7	5352663	5352665	+	In_Frame_Del	DEL	GAT	-	-			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5352663_5352665delGAT	uc003soi.3	-	c.7857_7859delATC	c.(7855-7860)TCATCC>TCC	p.2619_2620SS>S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2619_2620	Ser-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)										0.83			5	1		---	---	---	---	capture_indel		In_Frame_Del	DEL	5352663	5352665	16880	7	GAT	-	-	-	533	41	TNRC18	5	5
C9orf173	441476	broad.mit.edu	37	9	140146299	140146300	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140146299_140146300insC	uc004cmj.1	+	c.220_221insC	c.(220-222)ACCfs	p.T74fs	C9orf173_uc011meu.1_Non-coding_Transcript|C9orf173_uc004cmk.1_Frame_Shift_Ins_p.T73fs|C9orf173_uc010ncd.1_Non-coding_Transcript|C9orf173_uc011mev.1_Frame_Shift_Ins_p.T73fs|C9orf173_uc004cml.1_Frame_Shift_Ins_p.T73fs	NM_001004353	NP_001004353	Q8N7X2	CI173_HUMAN	hypothetical protein LOC441476	74										pancreas(1)	1														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	140146299	140146300	2587	9	-	C	C	C	78	6	C9orf173	5	5
MCF2	4168	broad.mit.edu	37	X	138728991	138728991	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z030-01	TCGA-17-Z030-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:138728991_138728991delC	uc011mwo.1	-	c.97_97delG	c.(97-99)GAAfs	p.E33fs	MCF2_uc011mwn.1_Frame_Shift_Del_p.E118fs|MCF2_uc004faw.2_Frame_Shift_Del_p.E33fs	NM_001099855	NP_001093325	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	Error:Variant_position_missing_in_P10911_after_alignment					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)									693				0.38			5	8		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	138728991	138728991	9767	23	C	-	-	-	390	30	MCF2	5	5
