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
BAG3	9531	broad.mit.edu	37	10	121432086	121432086	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:121432086G>T	uc001lem.2	+	c.827G>T	c.(826-828)CGG>CTG	p.R276L	BAG3_uc001lel.2_Missense_Mutation_p.R276L	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	276					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)										0.161765	19.579244	26.987622	11	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121432086	121432086	1309	10	G	T	T	T	507	39	BAG3	1	1
ADAM12	8038	broad.mit.edu	37	10	127708376	127708376	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127708376G>T	uc001ljk.2	-	c.2557C>A	c.(2557-2559)CCC>ACC	p.P853T	ADAM12_uc010qul.1_Missense_Mutation_p.P804T	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	853	Cytoplasmic (Potential).				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)	8		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)						1070				0.129032	10.857716	19.167677	8	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127708376	127708376	237	10	G	T	T	T	559	43	ADAM12	2	2
ZNF438	220929	broad.mit.edu	37	10	31134418	31134418	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31134418C>A	uc010qdz.1	-	c.1959G>T	c.(1957-1959)CAG>CAT	p.Q653H	ZNF438_uc001ivn.2_Missense_Mutation_p.Q604H|ZNF438_uc010qdy.1_Missense_Mutation_p.Q643H|ZNF438_uc001ivo.3_Missense_Mutation_p.Q217H|ZNF438_uc009xlg.2_Missense_Mutation_p.Q653H|ZNF438_uc001ivp.3_Missense_Mutation_p.Q643H|ZNF438_uc010qea.1_Missense_Mutation_p.Q653H|ZNF438_uc010qeb.1_Missense_Mutation_p.Q653H	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)												0.074766	-9.8844	29.874561	16	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31134418	31134418	18503	10	C	A	A	A	415	32	ZNF438	2	2
CASP5	838	broad.mit.edu	37	11	104872881	104872881	+	Silent	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:104872881G>A	uc010ruz.1	-	c.630C>T	c.(628-630)ATC>ATT	p.I210I	CASP5_uc010rva.1_Silent_p.I197I|CASP5_uc010rvb.1_Silent_p.I139I|CASP5_uc010rvc.1_Silent_p.I55I|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_5'UTR	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	caspase 5 isoform f precursor	197					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)										0.106383	15.753265	44.689583	20	168	KEEP	---	---	---	---	capture		Silent	SNP	104872881	104872881	2793	11	G	A	A	A	577	45	CASP5	2	2
EXPH5	23086	broad.mit.edu	37	11	108381132	108381132	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108381132T>A	uc001pkk.2	-	c.5102A>T	c.(5101-5103)AAT>ATT	p.N1701I	EXPH5_uc010rvy.1_Missense_Mutation_p.N1513I|EXPH5_uc010rvz.1_Missense_Mutation_p.N1545I|EXPH5_uc010rwa.1_Missense_Mutation_p.N1625I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1701					intracellular protein transport		Rab GTPase binding			ovary(2)	2		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)										0.109034	37.587988	86.192347	35	286	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108381132	108381132	5516	11	T	A	A	A	676	52	EXPH5	3	3
HMBS	3145	broad.mit.edu	37	11	118960719	118960719	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118960719G>A	uc001puz.1	+	c.364G>A	c.(364-366)GCT>ACT	p.A122T	HMBS_uc009zao.1_Missense_Mutation_p.A67T|HMBS_uc001pvc.1_Missense_Mutation_p.A67T|HMBS_uc009zap.1_Missense_Mutation_p.A105T|HMBS_uc001pva.1_Missense_Mutation_p.A122T|HMBS_uc001pvb.1_Missense_Mutation_p.A104T|HMBS_uc001pvd.1_Missense_Mutation_p.A105T|HMBS_uc001pve.1_Missense_Mutation_p.A105T|HMBS_uc001pvf.1_Missense_Mutation_p.A105T	NM_000190	NP_000181	P08397	HEM3_HUMAN	hydroxymethylbilane synthase isoform 1	122			A -> G (in AIP).		heme biosynthetic process|peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)										0.08	-4.099502	27.417961	14	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118960719	118960719	7510	11	G	A	A	A	598	46	HMBS	2	2
FLI1	2313	broad.mit.edu	37	11	128680783	128680783	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128680783C>T	uc010sbu.1	+	c.1259C>T	c.(1258-1260)TCA>TTA	p.S420L	FLI1_uc010sbt.1_Missense_Mutation_p.S227L|FLI1_uc010sbv.1_Missense_Mutation_p.S387L|FLI1_uc009zci.2_Missense_Mutation_p.S354L	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	420					hemostasis|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2262)	bone(2208)|soft_tissue(46)|autonomic_ganglia(4)|central_nervous_system(4)|ovary(2)|pancreas(2)|lung(1)	2267	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)						400				0.053191	-9.808249	10.009303	5	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128680783	128680783	6162	11	C	T	T	T	377	29	FLI1	2	2
CD82	3732	broad.mit.edu	37	11	44626629	44626629	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44626629G>C	uc001myc.2	+	c.158G>C	c.(157-159)AGG>ACG	p.R53T	CD82_uc001myd.2_Missense_Mutation_p.R53T	NM_002231	NP_002222	P27701	CD82_HUMAN	CD82 antigen isoform 1	53	Extracellular (Potential).					integral to plasma membrane	protein binding			ovary(1)	1														0.060606	-19.153387	27.469401	14	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44626629	44626629	3168	11	G	C	C	C	455	35	CD82	3	3
CELF1	10658	broad.mit.edu	37	11	47510459	47510459	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47510459G>C	uc001nfp.2	-	c.189C>G	c.(187-189)TTC>TTG	p.F63L	CELF1_uc001nfl.2_Missense_Mutation_p.F36L|CELF1_uc001nfm.2_Missense_Mutation_p.F36L|CELF1_uc001nfn.2_Missense_Mutation_p.F36L|CELF1_uc001nfo.1_Missense_Mutation_p.F63L|CELF1_uc010rhm.1_Missense_Mutation_p.F36L|CELF1_uc001nfq.1_Missense_Mutation_p.F36L|CELF1_uc001nfr.1_Missense_Mutation_p.F36L	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	CUG triplet repeat, RNA-binding protein 1	36	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|ovary(1)	3						Pancreas(163;1949 1966 9906 43218 43785)								0.087629	18.327193	51.689888	17	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47510459	47510459	3348	11	G	C	C	C	477	37	CELF1	3	3
OR52A4	390053	broad.mit.edu	37	11	5142232	5142232	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5142232C>A	uc001lzz.1	-	c.577G>T	c.(577-579)GCC>TCC	p.A193S		NM_001005222	NP_001005222	A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)										0.119048	11.889218	23.859796	10	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5142232	5142232	11519	11	C	A	A	A	325	25	OR52A4	2	2
OR4C15	81309	broad.mit.edu	37	11	55321922	55321922	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55321922C>A	uc010rig.1	+	c.140C>A	c.(139-141)GCT>GAT	p.A47D		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	Error:Variant_position_missing_in_Q8NGM1_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.079602	-0.567199	35.696451	16	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55321922	55321922	11454	11	C	A	A	A	364	28	OR4C15	2	2
OR5L2	26338	broad.mit.edu	37	11	55595148	55595148	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55595148G>T	uc001nhy.1	+	c.454G>T	c.(454-456)GGG>TGG	p.G152W		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.128205	39.791352	71.311864	30	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55595148	55595148	11581	11	G	T	T	T	611	47	OR5L2	2	2
OR5D16	390144	broad.mit.edu	37	11	55607016	55607016	+	Silent	SNP	A	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55607016A>G	uc010rio.1	+	c.789A>G	c.(787-789)GTA>GTG	p.V263V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3		all_epithelial(135;0.208)												0.134146	21.775475	32.415204	11	71	KEEP	---	---	---	---	capture		Silent	SNP	55607016	55607016	11566	11	A	G	G	G	171	14	OR5D16	4	4
OR5M11	219487	broad.mit.edu	37	11	56310155	56310155	+	Silent	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56310155G>C	uc010rjl.1	-	c.579C>G	c.(577-579)GTC>GTG	p.V193V		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.086957	4.262648	12.206905	4	42	KEEP	---	---	---	---	capture		Silent	SNP	56310155	56310155	11584	11	G	C	C	C	574	45	OR5M11	3	3
OR5B12	390191	broad.mit.edu	37	11	58207039	58207039	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58207039C>A	uc010rkh.1	-	c.586G>T	c.(586-588)GTT>TTT	p.V196F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	196	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.108108	8.621528	19.822083	8	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58207039	58207039	11558	11	C	A	A	A	234	18	OR5B12	2	2
CCKBR	887	broad.mit.edu	37	11	6290956	6290956	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6290956G>C	uc001mcs.2	+	c.209G>C	c.(208-210)GGA>GCA	p.G70A	CCKBR_uc001mcp.2_Missense_Mutation_p.G70A|CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Missense_Mutation_p.G70A	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	70	Helical; Name=1; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception	integral to plasma membrane	1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			ovary(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)									0.072165	3.822133	40.346903	14	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6290956	6290956	3006	11	G	C	C	C	533	41	CCKBR	3	3
RHOD	29984	broad.mit.edu	37	11	66834240	66834240	+	Silent	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66834240G>T	uc001ojv.2	+	c.252G>T	c.(250-252)CTG>CTT	p.L84L		NM_014578	NP_055393	O00212	RHOD_HUMAN	ras homolog D precursor	84					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0														0.101504	20.524845	62.667427	27	239	KEEP	---	---	---	---	capture		Silent	SNP	66834240	66834240	13812	11	G	T	T	T	613	48	RHOD	2	2
SYT9	143425	broad.mit.edu	37	11	7335004	7335004	+	Silent	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7335004G>T	uc001mfe.2	+	c.876G>T	c.(874-876)CCG>CCT	p.P292P	SYT9_uc001mfd.2_Non-coding_Transcript|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	292	Cytoplasmic (Potential).|C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)										0.117479	54.327418	104.529807	41	308	KEEP	---	---	---	---	capture		Silent	SNP	7335004	7335004	16002	11	G	T	T	T	496	39	SYT9	1	1
SYTL2	54843	broad.mit.edu	37	11	85436910	85436910	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85436910C>A	uc001pbb.2	-	c.590G>T	c.(589-591)AGT>ATT	p.S197I	SYTL2_uc010rtg.1_Intron|SYTL2_uc010rth.1_Intron|SYTL2_uc010rti.1_Intron|SYTL2_uc010rtj.1_Intron|SYTL2_uc009yvj.2_Non-coding_Transcript|SYTL2_uc001pbd.2_Missense_Mutation_p.S197I|SYTL2_uc001pbc.2_Missense_Mutation_p.S197I|SYTL2_uc010rtf.1_Intron	NM_206927	NP_996810	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform c	234					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)										0.097561	11.933693	45.195467	20	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85436910	85436910	16004	11	C	A	A	A	260	20	SYTL2	2	2
FOLH1B	219595	broad.mit.edu	37	11	89424161	89424161	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89424161G>T	uc001pda.2	+	c.811G>T	c.(811-813)GTT>TTT	p.V271F		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	271					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|central_nervous_system(1)	4														0.117647	6.514633	13.844688	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89424161	89424161	6222	11	G	T	T	T	572	44	FOLH1B	2	2
MRE11A	4361	broad.mit.edu	37	11	94209498	94209498	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94209498C>A	uc001peu.2	-	c.616G>T	c.(616-618)GAT>TAT	p.D206Y	MRE11A_uc001pev.2_Missense_Mutation_p.D206Y|MRE11A_uc009ywj.2_Missense_Mutation_p.D209Y	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	206					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(3)|lung(1)	4		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)								377				0.0875	0.256894	14.038813	7	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94209498	94209498	10151	11	C	A	A	A	416	32	MRE11A	2	2
ETV6	2120	broad.mit.edu	37	12	12038881	12038881	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:12038881G>A	uc001qzz.2	+	c.1174G>A	c.(1174-1176)GAG>AAG	p.E392K	ETV6_uc001raa.1_Intron	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	392	ETS.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(1)|pancreas(1)	247		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)							p.E392fs(MHHCALL4-Tumor)	175				0.066667	-10.505926	21.613679	11	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12038881	12038881	5476	12	G	A	A	A	585	45	ETV6	2	2
CACNA2D4	93589	broad.mit.edu	37	12	1984472	1984472	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1984472G>T	uc001qjp.2	-	c.1751C>A	c.(1750-1752)CCT>CAT	p.P584H	CACNA2D4_uc009zds.1_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.P472H	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	584	Extracellular (Potential).				response to stimulus|visual perception	integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		Colon(2;101 179 21030 23310 28141)								0.09322	5.074224	24.678381	11	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1984472	1984472	2667	12	G	T	T	T	455	35	CACNA2D4	2	2
ST8SIA1	6489	broad.mit.edu	37	12	22408291	22408292	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22408291_22408292GC>AA	uc001rfo.3	-	c.413_414GC>TT	c.(412-414)TGC>TTT	p.C138F	ST8SIA1_uc009zix.2_Intron	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	138	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3														0.096386	9.569601	36.686575	16	150	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	22408291	22408292	15749	12	GC	AA	AA	AA	490	38	ST8SIA1	1	1
ARID2	196528	broad.mit.edu	37	12	46245579	46245579	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46245579G>T	uc001ros.1	+	c.3673G>T	c.(3673-3675)GCT>TCT	p.A1225S	ARID2_uc001ror.2_Missense_Mutation_p.A1225S|ARID2_uc009zkg.1_Missense_Mutation_p.A681S|ARID2_uc009zkh.1_Missense_Mutation_p.A852S|ARID2_uc001rou.1_Missense_Mutation_p.A559S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1225					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(1)	7	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)										0.08	-0.641218	8.359022	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46245579	46245579	930	12	G	T	T	T	598	46	ARID2	2	2
KCNA1	3736	broad.mit.edu	37	12	5021622	5021622	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5021622C>T	uc001qnh.2	+	c.1078C>T	c.(1078-1080)CCC>TCC	p.P360S		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	360					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)	1					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.097561	26.219492	86.070101	36	333	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5021622	5021622	8306	12	C	T	T	T	286	22	KCNA1	2	2
CNOT2	4848	broad.mit.edu	37	12	70747665	70747665	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70747665C>T	uc001svv.2	+	c.1593C>T	c.(1591-1593)TTC>TTT	p.F531F	CNOT2_uc009zro.2_Silent_p.F531F|CNOT2_uc009zrp.2_Silent_p.F511F|CNOT2_uc009zrq.2_Silent_p.F531F	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	531					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter, global|transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA polymerase II transcription mediator activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)											0.071429	-4.223406	11.686732	6	78	KEEP	---	---	---	---	capture		Silent	SNP	70747665	70747665	3757	12	C	T	T	T	376	29	CNOT2	2	2
LRRIQ1	84125	broad.mit.edu	37	12	85450232	85450232	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85450232A>T	uc001tac.2	+	c.1661A>T	c.(1660-1662)CAG>CTG	p.Q554L	LRRIQ1_uc001tab.1_Missense_Mutation_p.Q554L|LRRIQ1_uc001taa.1_Missense_Mutation_p.Q529L	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	554										ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(134;0.212)										0.243902	25.729139	28.179848	10	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85450232	85450232	9405	12	A	T	T	T	91	7	LRRIQ1	3	3
SACS	26278	broad.mit.edu	37	13	23929354	23929354	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:23929354C>A	uc001uon.2	-	c.1397G>T	c.(1396-1398)GGG>GTG	p.G466V	SACS_uc001uoo.2_Missense_Mutation_p.G319V|SACS_uc001uop.1_Missense_Mutation_p.G253V|SACS_uc001uoq.1_Missense_Mutation_p.G319V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	466					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)						738				0.13	15.562449	28.840066	13	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23929354	23929354	14284	13	C	A	A	A	286	22	SACS	2	2
POSTN	10631	broad.mit.edu	37	13	38154004	38154004	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38154004G>C	uc001uwo.3	-	c.1654C>G	c.(1654-1656)CTG>GTG	p.L552V	POSTN_uc010tet.1_Missense_Mutation_p.L80V|POSTN_uc001uwp.3_Missense_Mutation_p.L552V|POSTN_uc001uwr.2_Missense_Mutation_p.L552V|POSTN_uc001uwq.2_Missense_Mutation_p.L552V|POSTN_uc010teu.1_Missense_Mutation_p.L552V|POSTN_uc010tev.1_Missense_Mutation_p.L552V|POSTN_uc010tew.1_Missense_Mutation_p.L552V|POSTN_uc010tex.1_Missense_Mutation_p.L467V	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	552	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)										0.101695	7.50297	16.839114	6	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38154004	38154004	12688	13	G	C	C	C	425	33	POSTN	3	3
ZC3H13	23091	broad.mit.edu	37	13	46539475	46539475	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46539475C>T	uc010tfw.1	-	c.4411G>A	c.(4411-4413)GAA>AAA	p.E1471K	ZC3H13_uc001vaq.2_Missense_Mutation_p.E56K|ZC3H13_uc001vas.1_Missense_Mutation_p.E1472K	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1471							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		Esophageal Squamous(187;747 2077 11056 31291 44172)								0.052863	-27.204828	20.770354	12	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46539475	46539475	18153	13	C	T	T	T	377	29	ZC3H13	2	2
ZC3H13	23091	broad.mit.edu	37	13	46559778	46559778	+	Silent	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46559778C>G	uc010tfw.1	-	c.1374G>C	c.(1372-1374)CGG>CGC	p.R458R	ZC3H13_uc001vas.1_Silent_p.R458R|ZC3H13_uc001vat.1_Silent_p.R458R	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	458	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		Esophageal Squamous(187;747 2077 11056 31291 44172)								0.06015	-14.818931	39.047349	16	250	KEEP	---	---	---	---	capture		Silent	SNP	46559778	46559778	18153	13	C	G	G	G	379	30	ZC3H13	3	3
RPGRIP1	57096	broad.mit.edu	37	14	21811336	21811336	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21811336T>C	uc001wag.2	+	c.3481T>C	c.(3481-3483)TCC>CCC	p.S1161P	RPGRIP1_uc001wah.2_Missense_Mutation_p.S803P|RPGRIP1_uc001wai.2_Missense_Mutation_p.S487P|RPGRIP1_uc001wak.2_Missense_Mutation_p.S636P|RPGRIP1_uc010aim.2_Missense_Mutation_p.S544P|RPGRIP1_uc001wal.2_Missense_Mutation_p.S520P|RPGRIP1_uc001wam.2_Missense_Mutation_p.S478P	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	1161	Interaction with RPGR.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)						1408				0.0625	-6.501339	19.122364	8	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21811336	21811336	14028	14	T	C	C	C	754	58	RPGRIP1	4	4
HAUS4	54930	broad.mit.edu	37	14	23424312	23424312	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23424312G>A	uc001whp.2	-	c.52C>T	c.(52-54)CAA>TAA	p.Q18*	HAUS4_uc001who.2_Non-coding_Transcript|HAUS4_uc001whq.2_Nonsense_Mutation_p.Q18*|HAUS4_uc001whr.2_Nonsense_Mutation_p.Q18*|HAUS4_uc001whs.2_Nonsense_Mutation_p.Q18*|HAUS4_uc001wht.2_Nonsense_Mutation_p.Q18*|HAUS4_uc001whu.2_Nonsense_Mutation_p.Q18*|HAUS4_uc001whv.2_5'UTR|HAUS4_uc001whw.2_Nonsense_Mutation_p.Q18*|HAUS4_uc001whx.2_Nonsense_Mutation_p.Q18*	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	18					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle				ovary(1)	1														0.048583	-35.663382	17.872426	12	235	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23424312	23424312	7250	14	G	A	A	A	624	48	HAUS4	5	2
DCAF11	80344	broad.mit.edu	37	14	24586142	24586142	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24586142G>T	uc001wlv.2	+	c.172G>T	c.(172-174)GTG>TTG	p.V58L	NRL_uc001wlq.2_5'Flank|DCAF11_uc001wlw.2_Missense_Mutation_p.V58L|DCAF11_uc001wlz.2_5'UTR|DCAF11_uc001wly.2_Missense_Mutation_p.V14L|DCAF11_uc001wme.2_Intron|DCAF11_uc010tny.1_Intron|DCAF11_uc001wmd.2_Missense_Mutation_p.V58L|DCAF11_uc001wmc.2_5'UTR|DCAF11_uc001wmb.3_Intron|DCAF11_uc001wma.3_Missense_Mutation_p.V58L	NM_001163484	NP_001156956	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11 isoform 1	58					protein ubiquitination	CUL4 RING ubiquitin ligase complex	protein binding				0														0.101523	12.646609	43.860471	20	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24586142	24586142	4433	14	G	T	T	T	572	44	DCAF11	2	2
TM9SF1	10548	broad.mit.edu	37	14	24682634	24682634	+	Silent	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24682634G>C	uc010tob.1	-	c.90C>G	c.(88-90)CTC>CTG	p.L30L	CHMP4A_uc001wni.2_Silent_p.L47L|CHMP4A_uc010toc.1_Non-coding_Transcript|CHMP4A_uc001wnj.2_Silent_p.L47L|MDP1_uc001wnk.1_3'UTR|CHMP4A_uc001wnm.1_3'UTR	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	Error:Variant_position_missing_in_O15321_after_alignment					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)										0.127907	19.682075	31.275357	11	75	KEEP	---	---	---	---	capture		Silent	SNP	24682634	24682634	16507	14	G	C	C	C	470	37	TM9SF1	3	3
KIAA0391	9692	broad.mit.edu	37	14	35739605	35739605	+	Splice_Site_SNP	SNP	A	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:35739605A>T	uc001wsy.1	+	c.1425_splice	c.e7-2	p.I475_splice	KIAA0391_uc010tps.1_Splice_Site_SNP_p.I380_splice|KIAA0391_uc001wsz.1_Splice_Site_SNP_p.I459_splice|KIAA0391_uc001wta.2_Splice_Site_SNP|KIAA0391_uc001wtb.1_Splice_Site_SNP_p.I459_splice|KIAA0391_uc001wtc.1_Splice_Site_SNP_p.I103_splice	NM_014672	NP_055487			mitochondrial RNase P protein 3 precursor						tRNA processing	mitochondrion					0	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)										0.105263	16.395486	39.928761	16	136	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	35739605	35739605	8479	14	A	T	T	T	91	7	KIAA0391	5	3
NID2	22795	broad.mit.edu	37	14	52520602	52520602	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52520602C>A	uc001wzo.2	-	c.1124G>T	c.(1123-1125)GGG>GTG	p.G375V	NID2_uc010tqs.1_Missense_Mutation_p.G375V|NID2_uc010tqt.1_Missense_Mutation_p.G375V|NID2_uc001wzp.2_Missense_Mutation_p.G375V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	375					bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.102041	7.078296	22.552739	10	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52520602	52520602	10816	14	C	A	A	A	286	22	NID2	2	2
SYNE2	23224	broad.mit.edu	37	14	64574293	64574293	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64574293G>C	uc001xgl.2	+	c.12577G>C	c.(12577-12579)GAA>CAA	p.E4193Q	SYNE2_uc001xgm.2_Missense_Mutation_p.E4193Q|SYNE2_uc010apy.2_Missense_Mutation_p.E578Q|SYNE2_uc010apz.1_Missense_Mutation_p.E85Q	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4193	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.031884	-55.597041	27.093988	11	334	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64574293	64574293	15967	14	G	C	C	C	429	33	SYNE2	3	3
SYNE2	23224	broad.mit.edu	37	14	64686021	64686021	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64686021G>T	uc001xgl.2	+	c.19753G>T	c.(19753-19755)GCC>TCC	p.A6585S	SYNE2_uc001xgm.2_Missense_Mutation_p.A6562S|SYNE2_uc010apy.2_Missense_Mutation_p.A2947S|SYNE2_uc001xgn.2_Missense_Mutation_p.A1524S|SYNE2_uc001xgo.2_Non-coding_Transcript|SYNE2_uc010aqa.2_Missense_Mutation_p.A532S|SYNE2_uc001xgq.2_Missense_Mutation_p.A927S|SYNE2_uc001xgr.2_Missense_Mutation_p.A345S|SYNE2_uc010tsi.1_Missense_Mutation_p.A219S|SYNE2_uc001xgs.2_Missense_Mutation_p.A219S|SYNE2_uc001xgt.2_Missense_Mutation_p.A93S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6562	Cytoplasmic (Potential).|Spectrin 9.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.106195	10.260058	27.63042	12	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64686021	64686021	15967	14	G	T	T	T	494	38	SYNE2	1	1
DNAH3	55567	broad.mit.edu	37	16	21061251	21061251	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21061251C>T	uc010vbe.1	-	c.4327G>A	c.(4327-4329)GCC>ACC	p.A1443T		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1443	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(10)|large_intestine(2)|central_nervous_system(2)	14				GBM - Glioblastoma multiforme(48;0.207)										0.11215	21.358003	53.152188	24	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21061251	21061251	4786	16	C	T	T	T	338	26	DNAH3	2	2
SCNN1B	6338	broad.mit.edu	37	16	23382700	23382700	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23382700C>G	uc002dln.2	+	c.961C>G	c.(961-963)CAC>GAC	p.H321D		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	321	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)									0.109375	11.576004	21.24584	7	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23382700	23382700	14410	16	C	G	G	G	377	29	SCNN1B	3	3
PALB2	79728	broad.mit.edu	37	16	23641517	23641517	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23641517C>A	uc002dlx.1	-	c.1958G>T	c.(1957-1959)TGT>TTT	p.C653F		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	653					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(2)|ovary(2)|lung(1)|skin(1)|kidney(1)|pancreas(1)	8				GBM - Glioblastoma multiforme(48;0.0167)						263				0.093385	13.989774	56.730879	24	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23641517	23641517	11822	16	C	A	A	A	221	17	PALB2	2	2
NKD1	85407	broad.mit.edu	37	16	50642215	50642215	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50642215G>A	uc002egg.1	+	c.203G>A	c.(202-204)GGC>GAC	p.G68D		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	68					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)										0.098655	10.087394	46.122188	22	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50642215	50642215	10842	16	G	A	A	A	546	42	NKD1	2	2
TSNAXIP1	55815	broad.mit.edu	37	16	67860420	67860420	+	Silent	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67860420C>G	uc010vka.1	+	c.1356C>G	c.(1354-1356)GTC>GTG	p.V452V	TSNAXIP1_uc010vjz.1_Silent_p.V275V|TSNAXIP1_uc002euf.3_Silent_p.V131V|TSNAXIP1_uc010vkb.1_Silent_p.V383V|TSNAXIP1_uc002eug.3_Silent_p.V106V|TSNAXIP1_uc002euh.3_Silent_p.V106V|TSNAXIP1_uc002eui.3_Silent_p.V106V|TSNAXIP1_uc002euj.2_Silent_p.V398V|TSNAXIP1_uc002euk.2_Silent_p.V131V	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	398					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)										0.057851	-6.68049	18.128308	7	114	KEEP	---	---	---	---	capture		Silent	SNP	67860420	67860420	17183	16	C	G	G	G	366	29	TSNAXIP1	3	3
FTSJD1	55783	broad.mit.edu	37	16	71318373	71318373	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71318373C>G	uc010cga.2	-	c.1451G>C	c.(1450-1452)GGA>GCA	p.G484A	FTSJD1_uc002ezy.3_Missense_Mutation_p.G484A|FTSJD1_uc002ezz.3_Missense_Mutation_p.G484A	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	484						integral to membrane	methyltransferase activity|nucleic acid binding				0														0.118644	24.479263	41.321713	14	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71318373	71318373	6341	16	C	G	G	G	390	30	FTSJD1	3	3
MYH13	8735	broad.mit.edu	37	17	10209847	10209847	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10209847G>T	uc002gmk.1	-	c.5395C>A	c.(5395-5397)CAC>AAC	p.H1799N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1799	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)	4														0.111864	31.372738	75.282349	33	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10209847	10209847	10427	17	G	T	T	T	598	46	MYH13	2	2
MYH2	4620	broad.mit.edu	37	17	10432095	10432095	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10432095A>G	uc010coi.2	-	c.3656T>C	c.(3655-3657)GTG>GCG	p.V1219A	MYH2_uc002gmp.3_Missense_Mutation_p.V1219A|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1219	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.126761	45.895876	74.825638	27	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10432095	10432095	10430	17	A	G	G	G	78	6	MYH2	4	4
FAM83G	644815	broad.mit.edu	37	17	18881012	18881012	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18881012C>T	uc002guw.2	-	c.1967G>A	c.(1966-1968)CGA>CAA	p.R656Q	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	656										ovary(1)	1														0.101266	4.948338	17.480456	8	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18881012	18881012	5865	17	C	T	T	T	403	31	FAM83G	1	1
KIAA0100	9703	broad.mit.edu	37	17	26960091	26960091	+	Missense_Mutation	SNP	T	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26960091T>G	uc002hbu.2	-	c.3674A>C	c.(3673-3675)CAT>CCT	p.H1225P		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1225						extracellular region				ovary(2)|breast(1)	3	Lung NSC(42;0.00431)													0.114943	13.596034	26.297267	10	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26960091	26960091	8461	17	T	G	G	G	663	51	KIAA0100	4	4
TRPV3	162514	broad.mit.edu	37	17	3436156	3436156	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3436156G>T	uc002fvr.2	-	c.860C>A	c.(859-861)ACG>AAG	p.T287K	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.T271K|TRPV3_uc010vri.1_Missense_Mutation_p.T242K|TRPV3_uc002fvt.1_Missense_Mutation_p.T287K|TRPV3_uc010vrj.1_Missense_Mutation_p.T271K|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.T271K|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc002fvu.2_Missense_Mutation_p.T287K|TRPV3_uc010vrn.1_5'Flank	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel,	287	ANK 2.|Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(4)	4					Menthol(DB00825)									0.134831	20.644646	32.143685	12	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3436156	3436156	17148	17	G	T	T	T	520	40	TRPV3	1	1
GGNBP2	79893	broad.mit.edu	37	17	34937810	34937810	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34937810G>T	uc002hnb.2	+	c.1057G>T	c.(1057-1059)GAA>TAA	p.E353*	GGNBP2_uc002hna.2_Nonsense_Mutation_p.E353*|GGNBP2_uc002hnc.1_Nonsense_Mutation_p.E182*	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	353					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)										0.072368	-7.879943	20.753223	11	141	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34937810	34937810	6627	17	G	T	T	T	533	41	GGNBP2	5	2
CASC3	22794	broad.mit.edu	37	17	38296830	38296830	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38296830C>T	uc010cwt.1	+	c.29C>T	c.(28-30)TCG>TTG	p.S10L	CASC3_uc010cws.1_Missense_Mutation_p.S10L|CASC3_uc002hue.2_Missense_Mutation_p.S10L	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	10					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding			ovary(1)	1														0.153846	13.575313	19.526003	8	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38296830	38296830	2780	17	C	T	T	T	403	31	CASC3	1	1
ARRB2	409	broad.mit.edu	37	17	4621908	4621908	+	Silent	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4621908G>A	uc010vsg.1	+	c.771G>A	c.(769-771)GTG>GTA	p.V257V	ARRB2_uc002fyj.2_Silent_p.V236V|ARRB2_uc002fyk.2_Silent_p.V221V|ARRB2_uc002fyl.2_Silent_p.V236V|ARRB2_uc002fym.2_Silent_p.V221V|ARRB2_uc002fyn.2_Silent_p.V44V|ARRB2_uc010ckq.2_Silent_p.V44V|ARRB2_uc002fyo.2_Silent_p.V44V	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	236					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding				0														0.059322	-21.846258	26.137635	14	222	KEEP	---	---	---	---	capture		Silent	SNP	4621908	4621908	999	17	G	A	A	A	574	45	ARRB2	2	2
USH1G	124590	broad.mit.edu	37	17	72915997	72915997	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72915997G>T	uc002jme.1	-	c.934C>A	c.(934-936)CTG>ATG	p.L312M	USH1G_uc010wro.1_Missense_Mutation_p.L209M	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	312					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	actin cytoskeleton				skin(1)	1	all_lung(278;0.172)|Lung NSC(278;0.207)													0.063636	-14.883363	28.671422	14	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72915997	72915997	17597	17	G	T	T	T	451	35	USH1G	2	2
METTL4	64863	broad.mit.edu	37	18	2566837	2566837	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2566837T>C	uc002klh.3	-	c.379A>G	c.(379-381)ATT>GTT	p.I127V		NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	127					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2														0.097561	3.269685	9.9187	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2566837	2566837	9892	18	T	C	C	C	663	51	METTL4	4	4
CXXC1	30827	broad.mit.edu	37	18	47810363	47810363	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:47810363C>G	uc002ler.3	-	c.1326G>C	c.(1324-1326)CAG>CAC	p.Q442H	MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.Q295H|CXXC1_uc002leq.3_Missense_Mutation_p.Q438H|CXXC1_uc010doy.2_Missense_Mutation_p.Q438H|CXXC1_uc002les.2_Missense_Mutation_p.Q438H	NM_001101654	NP_001095124	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 1	438	Potential.				histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|transcription activator activity|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2														0.038835	-30.395356	17.064101	8	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47810363	47810363	4257	18	C	G	G	G	415	32	CXXC1	3	3
PHLPP1	23239	broad.mit.edu	37	18	60646292	60646292	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:60646292C>T	uc002lis.2	+	c.3246C>T	c.(3244-3246)GGC>GGT	p.G1082G		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1594					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0														0.263158	20.646831	22.567147	10	28	KEEP	---	---	---	---	capture		Silent	SNP	60646292	60646292	12278	18	C	T	T	T	314	25	PHLPP1	2	2
ZNF407	55628	broad.mit.edu	37	18	72775242	72775242	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72775242G>T	uc002llw.2	+	c.5565G>T	c.(5563-5565)AGG>AGT	p.R1855S		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1855					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)										0.119318	18.719127	43.740032	21	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72775242	72775242	18480	18	G	T	T	T	542	42	ZNF407	2	2
IL27RA	9466	broad.mit.edu	37	19	14153285	14153285	+	Silent	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14153285C>A	uc002mxx.2	+	c.555C>A	c.(553-555)ACC>ACA	p.T185T		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	185	Extracellular (Potential).|Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						Colon(164;1849 1896 4443 37792 47834)						OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.072664	-9.923074	44.260113	21	268	KEEP	---	---	---	---	capture		Silent	SNP	14153285	14153285	7982	19	C	A	A	A	262	21	IL27RA	2	2
OR10H5	284433	broad.mit.edu	37	19	15904894	15904894	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15904894C>T	uc010xos.1	+	c.36C>T	c.(34-36)TTC>TTT	p.F12F		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.038585	-48.984987	22.576278	12	299	KEEP	---	---	---	---	capture		Silent	SNP	15904894	15904894	11315	19	C	T	T	T	376	29	OR10H5	2	2
TSHZ3	57616	broad.mit.edu	37	19	31768037	31768037	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768037C>T	uc002nsy.3	-	c.2662G>A	c.(2662-2664)GCC>ACC	p.A888T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	888					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			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.132075	7.920821	14.866827	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768037	31768037	17176	19	C	T	T	T	351	27	TSHZ3	1	1
RYR1	6261	broad.mit.edu	37	19	38976304	38976304	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38976304G>A	uc002oit.2	+	c.5009G>A	c.(5008-5010)CGC>CAC	p.R1670H	RYR1_uc002oiu.2_Missense_Mutation_p.R1670H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1670	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.148936	21.288461	32.406009	14	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38976304	38976304	14248	19	G	A	A	A	494	38	RYR1	1	1
RYR1	6261	broad.mit.edu	37	19	39019689	39019689	+	Silent	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39019689G>C	uc002oit.2	+	c.11133G>C	c.(11131-11133)ACG>ACC	p.T3711T	RYR1_uc002oiu.2_Silent_p.T3706T|RYR1_uc002oiv.1_Silent_p.T626T|RYR1_uc010xuf.1_Silent_p.T631T	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3711					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.065217	-1.112883	7.916265	3	43	KEEP	---	---	---	---	capture		Silent	SNP	39019689	39019689	14248	19	G	C	C	C	496	39	RYR1	3	3
PSG4	5672	broad.mit.edu	37	19	43699270	43699270	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43699270G>C	uc002ovy.2	-	c.865C>G	c.(865-867)CCC>GCC	p.P289A	PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_Non-coding_Transcript|PSG4_uc002owb.2_Missense_Mutation_p.P196A|PSG4_uc002ovz.2_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	289	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.065934	-5.484111	83.409526	30	425	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43699270	43699270	13110	19	G	C	C	C	572	44	PSG4	3	3
PSG4	5672	broad.mit.edu	37	19	43708039	43708039	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43708039G>T	uc002ovy.2	-	c.429C>A	c.(427-429)CAC>CAA	p.H143Q	PSG4_uc002owa.2_Non-coding_Transcript|PSG4_uc002owb.2_Missense_Mutation_p.H143Q|PSG4_uc002ovz.2_Missense_Mutation_p.H143Q	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	143	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.154054	100.120146	142.472162	57	313	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43708039	43708039	13110	19	G	T	T	T	568	44	PSG4	2	2
PSG4	5672	broad.mit.edu	37	19	43708174	43708174	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43708174T>A	uc002ovy.2	-	c.294A>T	c.(292-294)AGA>AGT	p.R98S	PSG4_uc002owa.2_Non-coding_Transcript|PSG4_uc002owb.2_Missense_Mutation_p.R98S|PSG4_uc002ovz.2_Missense_Mutation_p.R98S	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	98	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.073585	-21.648452	77.385438	39	491	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43708174	43708174	13110	19	T	A	A	A	699	54	PSG4	3	3
SEMA6B	10501	broad.mit.edu	37	19	4558145	4558145	+	Silent	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4558145G>A	uc010duc.1	-	c.138C>T	c.(136-138)CCC>CCT	p.P46P	SEMA6B_uc010dud.2_Silent_p.P46P|SEMA6B_uc010xih.1_Silent_p.P46P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	46	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)								OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.117647	3.582907	8.465509	4	30	KEEP	---	---	---	---	capture		Silent	SNP	4558145	4558145	14526	19	G	A	A	A	496	39	SEMA6B	1	1
DHX34	9704	broad.mit.edu	37	19	47870329	47870329	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47870329G>T	uc010xyn.1	+	c.1685G>T	c.(1684-1686)CGG>CTG	p.R562L	DHX34_uc010elc.1_Missense_Mutation_p.R477L	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	562						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)	4		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)										0.181818	15.470796	19.661268	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47870329	47870329	4686	19	G	T	T	T	507	39	DHX34	1	1
FUZ	80199	broad.mit.edu	37	19	50314903	50314903	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50314903C>T	uc002ppq.1	-	c.372G>A	c.(370-372)CTG>CTA	p.L124L	FUZ_uc002ppr.1_Silent_p.L24L|FUZ_uc002pps.1_Non-coding_Transcript|FUZ_uc002ppt.1_Non-coding_Transcript|FUZ_uc002ppu.1_Silent_p.L88L|FUZ_uc002ppv.1_Silent_p.L74L|FUZ_uc010ybd.1_Silent_p.L124L	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	fuzzy homolog	124					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)										0.050617	-97.46996	76.011531	41	769	KEEP	---	---	---	---	capture		Silent	SNP	50314903	50314903	6363	19	C	T	T	T	366	29	FUZ	2	2
CD33	945	broad.mit.edu	37	19	51728706	51728706	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51728706C>A	uc002pwa.2	+	c.270C>A	c.(268-270)TTC>TTA	p.F90L	CD33_uc010eos.1_Missense_Mutation_p.F90L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	90	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)									0.078431	-4.628515	23.177082	12	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51728706	51728706	3133	19	C	A	A	A	389	30	CD33	2	2
LILRA2	11027	broad.mit.edu	37	19	55086420	55086420	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55086420C>T	uc002qgg.3	+	c.575C>T	c.(574-576)TCG>TTG	p.S192L	LILRA2_uc010ern.2_Missense_Mutation_p.S192L|LILRA2_uc002qgf.2_Missense_Mutation_p.S192L|LILRA2_uc010yfe.1_Missense_Mutation_p.S192L|LILRA2_uc010yff.1_Missense_Mutation_p.S180L|LILRA2_uc010ero.2_Missense_Mutation_p.S180L|LILRA2_uc010yfg.1_Missense_Mutation_p.S192L	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	192	Extracellular (Potential).|Ig-like C2-type 2.				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)										0.10396	14.3252	45.864579	21	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55086420	55086420	9111	19	C	T	T	T	403	31	LILRA2	1	1
NLRP2	55655	broad.mit.edu	37	19	55481503	55481503	+	Silent	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55481503G>A	uc002qij.2	+	c.120G>A	c.(118-120)CAG>CAA	p.Q40Q	NLRP2_uc010yfp.1_Silent_p.Q40Q|NLRP2_uc010esn.2_Silent_p.Q40Q|NLRP2_uc010eso.2_Silent_p.Q40Q|NLRP2_uc010esp.2_Silent_p.Q40Q	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	40	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)										0.056738	-11.62415	17.481514	8	133	KEEP	---	---	---	---	capture		Silent	SNP	55481503	55481503	10880	19	G	A	A	A	425	33	NLRP2	2	2
NLRP4	147945	broad.mit.edu	37	19	56382295	56382295	+	Silent	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56382295G>T	uc002qmd.3	+	c.2457G>T	c.(2455-2457)CTG>CTT	p.L819L	NLRP4_uc002qmf.2_Silent_p.L744L|NLRP4_uc010etf.2_Silent_p.L594L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	819	LRR 5.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.122302	19.367114	38.794652	17	122	KEEP	---	---	---	---	capture		Silent	SNP	56382295	56382295	10882	19	G	T	T	T	574	45	NLRP4	2	2
ZNF667	63934	broad.mit.edu	37	19	56952614	56952614	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56952614C>G	uc002qnd.2	-	c.1750G>C	c.(1750-1752)GAA>CAA	p.E584Q	ZNF667_uc010etl.2_Missense_Mutation_p.E366Q|ZNF667_uc002qne.2_Missense_Mutation_p.E584Q|ZNF667_uc010etm.2_Missense_Mutation_p.E527Q	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	584	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)										0.054217	-10.262303	24.503925	9	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56952614	56952614	18669	19	C	G	G	G	377	29	ZNF667	3	3
ZNF135	7694	broad.mit.edu	37	19	58578646	58578646	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58578646C>A	uc010yhq.1	+	c.830C>A	c.(829-831)ACT>AAT	p.T277N	ZNF135_uc002qre.2_Missense_Mutation_p.T265N|ZNF135_uc002qrd.1_Missense_Mutation_p.T223N|ZNF135_uc002qrf.2_Missense_Mutation_p.T223N|ZNF135_uc002qrg.2_Missense_Mutation_p.T235N|ZNF135_uc010yhr.1_Missense_Mutation_p.T86N	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	277					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)										0.122642	35.290819	64.850263	26	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58578646	58578646	18316	19	C	A	A	A	260	20	ZNF135	2	2
EMR1	2015	broad.mit.edu	37	19	6928183	6928183	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6928183C>T	uc002mfw.2	+	c.2250C>T	c.(2248-2250)TTC>TTT	p.F750F	EMR1_uc010dvc.2_Silent_p.F685F|EMR1_uc010dvb.2_Silent_p.F698F|EMR1_uc010xji.1_Silent_p.F609F|EMR1_uc010xjj.1_Silent_p.F573F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	750	Helical; Name=5; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)	3	all_hematologic(4;0.166)													0.072368	-13.105702	44.134779	22	282	KEEP	---	---	---	---	capture		Silent	SNP	6928183	6928183	5297	19	C	T	T	T	376	29	EMR1	2	2
MUC16	94025	broad.mit.edu	37	19	8971676	8971676	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8971676C>T	uc002mkp.2	-	c.42916G>A	c.(42916-42918)GAA>AAA	p.E14306K	MUC16_uc010dwi.2_Non-coding_Transcript|MUC16_uc010dwj.2_Missense_Mutation_p.E1106K|MUC16_uc010xki.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	14401	Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	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														0.119048	7.642887	13.628436	5	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8971676	8971676	10367	19	C	T	T	T	312	24	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9076466	9076466	+	Silent	SNP	T	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9076466T>C	uc002mkp.2	-	c.10980A>G	c.(10978-10980)GAA>GAG	p.E3660E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3661	Thr-rich.|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														0.064516	-1.894168	22.537234	8	116	KEEP	---	---	---	---	capture		Silent	SNP	9076466	9076466	10367	19	T	C	C	C	829	64	MUC16	4	4
NTNG1	22854	broad.mit.edu	37	1	107937895	107937895	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:107937895G>A	uc001dvh.3	+	c.1007G>A	c.(1006-1008)CGA>CAA	p.R336Q	NTNG1_uc001dvf.3_Missense_Mutation_p.R336Q|NTNG1_uc010out.1_Missense_Mutation_p.R336Q|NTNG1_uc001dvc.3_Missense_Mutation_p.R336Q|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_Non-coding_Transcript|NTNG1_uc009wek.2_Non-coding_Transcript|NTNG1_uc001dvg.2_Non-coding_Transcript|NTNG1_uc009wem.2_Silent_p.P8P|NTNG1_uc001dvd.1_Missense_Mutation_p.R336Q	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	336	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding	p.R336Q(1)		large_intestine(2)|ovary(2)	4		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)										0.03352	-31.008698	11.464027	6	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107937895	107937895	11109	1	G	A	A	A	481	37	NTNG1	1	1
MTOR	2475	broad.mit.edu	37	1	11184600	11184600	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11184600T>C	uc001asd.2	-	c.6617A>G	c.(6616-6618)AAC>AGC	p.N2206S	MTOR_uc001asc.2_Missense_Mutation_p.N411S	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2206	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|ovary(4)|kidney(3)|large_intestine(2)|skin(2)|lung(1)	19										1389				0.114583	17.761483	31.810739	11	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11184600	11184600	10347	1	T	C	C	C	780	60	MTOR	4	4
MTOR	2475	broad.mit.edu	37	1	11291433	11291433	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11291433T>C	uc001asd.2	-	c.2573A>G	c.(2572-2574)TAC>TGC	p.Y858C		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	858					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|ovary(4)|kidney(3)|large_intestine(2)|skin(2)|lung(1)	19										1389				0.126582	56.224208	88.433103	30	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11291433	11291433	10347	1	T	C	C	C	741	57	MTOR	4	4
TRIM33	51592	broad.mit.edu	37	1	114969875	114969875	+	Silent	SNP	A	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:114969875A>G	uc001eew.2	-	c.1344T>C	c.(1342-1344)GAT>GAC	p.D448D	TRIM33_uc010owr.1_Silent_p.D56D|TRIM33_uc010ows.1_Silent_p.D56D|TRIM33_uc001eex.2_Silent_p.D448D	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	448					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			central_nervous_system(3)|lung(2)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	9	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)						377				0.063636	-2.358915	19.42715	7	103	KEEP	---	---	---	---	capture		Silent	SNP	114969875	114969875	17051	1	A	G	G	G	154	12	TRIM33	4	4
PRDM2	7799	broad.mit.edu	37	1	14105012	14105012	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:14105012C>A	uc001avi.2	+	c.722C>A	c.(721-723)ACC>AAC	p.T241N	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.T241N|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.T40N|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	241					regulation of transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)										0.070922	-9.754268	17.039763	10	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14105012	14105012	12900	1	C	A	A	A	234	18	PRDM2	2	2
ENSA	2029	broad.mit.edu	37	1	150599975	150599975	+	Missense_Mutation	SNP	A	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150599975A>C	uc009wly.2	-	c.151T>G	c.(151-153)TCC>GCC	p.S51A	ENSA_uc001evd.2_Missense_Mutation_p.S51A|ENSA_uc001eve.2_Missense_Mutation_p.S51A|ENSA_uc001evg.2_Missense_Mutation_p.S51A|ENSA_uc001evh.2_Missense_Mutation_p.S51A|ENSA_uc009wlz.1_Missense_Mutation_p.S51A|ENSA_uc001evi.2_Missense_Mutation_p.S51A|ENSA_uc001evb.2_Missense_Mutation_p.S47A|ENSA_uc001evc.2_Missense_Mutation_p.S47A|ENSA_uc001evf.2_Missense_Mutation_p.S47A	NM_207043	NP_997051	O43768	ENSA_HUMAN	endosulfine alpha isoform 2	51					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			central_nervous_system(1)	1	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			Esophageal Squamous(188;763 2078 3002 3411 26027)								0.101562	13.083888	33.347351	13	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150599975	150599975	5329	1	A	C	C	C	143	11	ENSA	4	4
ADAMTS4	9507	broad.mit.edu	37	1	161163558	161163558	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161163558C>T	uc001fyt.3	-	c.1607G>A	c.(1606-1608)TGT>TAT	p.C536Y		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	536	TSP type-1.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											0.085714	-2.610107	21.765212	12	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161163558	161163558	269	1	C	T	T	T	221	17	ADAMTS4	2	2
OLFML2B	25903	broad.mit.edu	37	1	161969907	161969907	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161969907C>T	uc010pkq.1	-	c.948G>A	c.(946-948)GAG>GAA	p.E316E	OLFML2B_uc001gbu.2_Silent_p.E315E	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	315											0	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)											0.074534	-2.417547	27.4919	12	149	KEEP	---	---	---	---	capture		Silent	SNP	161969907	161969907	11263	1	C	T	T	T	363	28	OLFML2B	2	2
C1orf114	57821	broad.mit.edu	37	1	169388313	169388313	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169388313C>G	uc001gga.1	-	c.1153G>C	c.(1153-1155)GAG>CAG	p.E385Q	C1orf114_uc001gfz.1_Missense_Mutation_p.E385Q|C1orf114_uc009wvq.1_Missense_Mutation_p.E385Q|C1orf114_uc001ggb.2_Missense_Mutation_p.E385Q	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	385											0	all_hematologic(923;0.208)													0.068966	-1.32692	15.391249	6	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169388313	169388313	2054	1	C	G	G	G	416	32	C1orf114	3	3
DARS2	55157	broad.mit.edu	37	1	173822600	173822600	+	Silent	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173822600C>G	uc001gjh.1	+	c.1458C>G	c.(1456-1458)CTC>CTG	p.L486L		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	486					aspartyl-tRNA aminoacylation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)									0.123529	38.6472	62.217724	21	149	KEEP	---	---	---	---	capture		Silent	SNP	173822600	173822600	4409	1	C	G	G	G	405	32	DARS2	3	3
RABGAP1L	9910	broad.mit.edu	37	1	174781003	174781003	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:174781003G>A	uc001gjx.2	+	c.2245G>A	c.(2245-2247)GAA>AAA	p.E749K	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_Missense_Mutation_p.E56K|RABGAP1L_uc001gkd.3_Missense_Mutation_p.E75K|RABGAP1L_uc001gke.3_Missense_Mutation_p.E68K	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	749					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4														0.074074	-1.146009	8.9192	4	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174781003	174781003	13424	1	G	A	A	A	585	45	RABGAP1L	2	2
TNN	63923	broad.mit.edu	37	1	175116129	175116129	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175116129C>G	uc001gkl.1	+	c.3822C>G	c.(3820-3822)ATC>ATG	p.I1274M		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1274	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470		OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.051724	-9.438317	15.211348	6	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175116129	175116129	16864	1	C	G	G	G	382	30	TNN	3	3
TNR	7143	broad.mit.edu	37	1	175372526	175372526	+	Silent	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175372526C>A	uc001gkp.1	-	c.726G>T	c.(724-726)CGG>CGT	p.R242R	TNR_uc009wwu.1_Silent_p.R242R|TNR_uc010pmz.1_Silent_p.R242R	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	242	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.112583	15.761174	38.146541	17	134	KEEP	---	---	---	---	capture		Silent	SNP	175372526	175372526	16879	1	C	A	A	A	275	22	TNR	2	2
FAM5B	57795	broad.mit.edu	37	1	177250215	177250215	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177250215T>A	uc001glf.2	+	c.1903T>A	c.(1903-1905)TGG>AGG	p.W635R	FAM5B_uc001glg.2_Missense_Mutation_p.W530R	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	635						extracellular region				ovary(2)	2														0.162162	30.877815	42.93749	18	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177250215	177250215	5816	1	T	A	A	A	767	59	FAM5B	3	3
ARHGEF10L	55160	broad.mit.edu	37	1	17942588	17942588	+	Splice_Site_SNP	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17942588G>C	uc001ban.2	+	c.727_splice	c.e9-1	p.M243_splice	ARHGEF10L_uc009vpe.1_Splice_Site_SNP_p.M204_splice|ARHGEF10L_uc001bao.2_Splice_Site_SNP_p.M204_splice|ARHGEF10L_uc001bap.2_Splice_Site_SNP_p.M204_splice|ARHGEF10L_uc010ocr.1_Splice_Site_SNP_p.M1_splice|ARHGEF10L_uc001baq.2_Missense_Mutation_p.Q8H|ARHGEF10L_uc010ocs.1_5'Flank|ARHGEF10L_uc001bar.2_5'Flank	NM_018125	NP_060595			Rho guanine nucleotide exchange factor (GEF)						regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)										0.032787	-39.510055	18.632633	8	236	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	17942588	17942588	909	1	G	C	C	C	429	33	ARHGEF10L	5	3
RBBP5	5929	broad.mit.edu	37	1	205065903	205065903	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205065903C>A	uc010prd.1	-	c.1408G>T	c.(1408-1410)GAG>TAG	p.E470*	RBBP5_uc001hbu.1_Nonsense_Mutation_p.E435*|RBBP5_uc001hbv.1_Nonsense_Mutation_p.E435*|RBBP5_uc010pre.1_Nonsense_Mutation_p.E302*	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	435					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	promoter binding|protein binding			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)											0.10274	11.333485	57.561983	30	262	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	205065903	205065903	13563	1	C	A	A	A	416	32	RBBP5	5	2
EIF4G3	8672	broad.mit.edu	37	1	21268737	21268737	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21268737C>A	uc001bef.2	-	c.739G>T	c.(739-741)GGC>TGC	p.G247C	EIF4G3_uc010odi.1_De_novo_Start_OutOfFrame|EIF4G3_uc010odj.1_Missense_Mutation_p.G247C|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bec.2_Missense_Mutation_p.G248C|EIF4G3_uc001bed.2_Missense_Mutation_p.G248C|EIF4G3_uc001bee.2_Missense_Mutation_p.G254C|EIF4G3_uc001beg.2_Missense_Mutation_p.G247C|EIF4G3_uc010odk.1_Missense_Mutation_p.G248C|EIF4G3_uc001beh.2_Missense_Mutation_p.G259C	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	248					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity				0		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)										0.096774	5.91565	26.117334	12	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21268737	21268737	5229	1	C	A	A	A	312	24	EIF4G3	2	2
AIDA	64853	broad.mit.edu	37	1	222843271	222843271	+	Silent	SNP	A	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222843271A>T	uc001hnn.2	-	c.885T>A	c.(883-885)CTT>CTA	p.L295L	AIDA_uc001hno.2_Non-coding_Transcript|AIDA_uc010pus.1_Silent_p.L271L	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	295					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity						0														0.098901	4.208284	18.851401	9	82	KEEP	---	---	---	---	capture		Silent	SNP	222843271	222843271	426	1	A	T	T	T	2	1	AIDA	3	3
CSMD2	114784	broad.mit.edu	37	1	34128604	34128604	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34128604C>G	uc001bxm.1	-	c.4141G>C	c.(4141-4143)GAG>CAG	p.E1381Q	CSMD2_uc001bxn.1_Missense_Mutation_p.E1341Q|CSMD2_uc001bxo.1_Missense_Mutation_p.E254Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1341	CUB 8.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.06875	-3.299663	27.456989	11	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34128604	34128604	4086	1	C	G	G	G	390	30	CSMD2	3	3
FAAH	2166	broad.mit.edu	37	1	46871349	46871349	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:46871349C>T	uc001cpu.2	+	c.668C>T	c.(667-669)GCC>GTC	p.A223V	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	223	Cytoplasmic (By similarity).				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)									0.120482	28.888042	64.097647	30	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46871349	46871349	5550	1	C	T	T	T	338	26	FAAH	2	2
CLCA2	9635	broad.mit.edu	37	1	86890064	86890064	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86890064T>A	uc001dlr.3	+	c.134T>A	c.(133-135)ATT>AAT	p.I45N		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	45	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)	2		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)								0.102941	6.074704	16.75378	7	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86890064	86890064	3594	1	T	A	A	A	676	52	CLCA2	3	3
UBOX5	22888	broad.mit.edu	37	20	3102775	3102775	+	Silent	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:3102775C>A	uc002whw.2	-	c.510G>T	c.(508-510)GTG>GTT	p.V170V	UBOX5_uc002whx.2_Silent_p.V170V|UBOX5_uc002why.1_Silent_p.V170V	NM_014948	NP_055763	O94941	RNF37_HUMAN	U-box domain containing 5 isoform a	170						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2														0.105634	11.211091	33.180064	15	127	KEEP	---	---	---	---	capture		Silent	SNP	3102775	3102775	17452	20	C	A	A	A	262	21	UBOX5	2	2
BPIL1	80341	broad.mit.edu	37	20	31607499	31607499	+	Silent	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31607499G>T	uc002wyj.2	+	c.1023G>T	c.(1021-1023)GTG>GTT	p.V341V		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	341						extracellular region	lipid binding			large_intestine(1)|ovary(1)	2														0.166667	9.048691	12.828516	6	30	KEEP	---	---	---	---	capture		Silent	SNP	31607499	31607499	1519	20	G	T	T	T	600	47	BPIL1	2	2
KIAA1755	85449	broad.mit.edu	37	20	36869715	36869715	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36869715C>A	uc002xhy.1	-	c.818G>T	c.(817-819)GGA>GTA	p.G273V	KIAA1755_uc002xhz.1_Missense_Mutation_p.G273V	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	273										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.075269	-7.583734	26.831629	14	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36869715	36869715	8568	20	C	A	A	A	390	30	KIAA1755	2	2
CHD6	84181	broad.mit.edu	37	20	40053841	40053841	+	Silent	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40053841G>A	uc002xka.1	-	c.4323C>T	c.(4321-4323)CTC>CTT	p.L1441L		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1441					chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.075472	-4.9952	14.629188	8	98	KEEP	---	---	---	---	capture		Silent	SNP	40053841	40053841	3463	20	G	A	A	A	574	45	CHD6	2	2
TAF4	6874	broad.mit.edu	37	20	60587990	60587990	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60587990C>A	uc002ybs.2	-	c.1522G>T	c.(1522-1524)GCA>TCA	p.A508S		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	508					interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|general RNA polymerase II transcription factor activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription initiation factor activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)											0.105263	6.961992	24.586734	12	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60587990	60587990	16047	20	C	A	A	A	338	26	TAF4	2	2
NPBWR2	2832	broad.mit.edu	37	20	62737699	62737699	+	Silent	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62737699C>A	uc011abt.1	-	c.486G>T	c.(484-486)GGG>GGT	p.G162G		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	162	Cytoplasmic (Potential).					integral to membrane|plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)													0.111111	2.395399	9.084462	5	40	KEEP	---	---	---	---	capture		Silent	SNP	62737699	62737699	10973	20	C	A	A	A	275	22	NPBWR2	2	2
KRTAP13-3	337960	broad.mit.edu	37	21	31797938	31797938	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31797938C>A	uc002yob.1	-	c.293G>T	c.(292-294)GGG>GTG	p.G98V		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	98	5 X 10 AA approximate repeats.|5.					intermediate filament				ovary(1)|lung(1)	2														0.130435	6.713966	12.832529	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31797938	31797938	8839	21	C	A	A	A	286	22	KRTAP13-3	2	2
CRYBA4	1413	broad.mit.edu	37	22	27024278	27024278	+	Silent	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:27024278C>A	uc003acz.3	+	c.327C>A	c.(325-327)ATC>ATA	p.I109I		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	109	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0														0.107692	10.347144	30.201385	14	116	KEEP	---	---	---	---	capture		Silent	SNP	27024278	27024278	4048	22	C	A	A	A	408	32	CRYBA4	2	2
ELFN2	114794	broad.mit.edu	37	22	37771375	37771375	+	Missense_Mutation	SNP	A	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37771375A>C	uc003asq.3	-	c.200T>G	c.(199-201)CTC>CGC	p.L67R		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	67	LRR 1.|Extracellular (Potential).					cell surface|integral to membrane				ovary(1)	1	Melanoma(58;0.0574)													0.067568	-6.566608	22.086338	10	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37771375	37771375	5250	22	A	C	C	C	143	11	ELFN2	4	4
CACNA1I	8911	broad.mit.edu	37	22	40037181	40037181	+	Silent	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40037181C>A	uc003ayc.2	+	c.1050C>A	c.(1048-1050)ATC>ATA	p.I350I	CACNA1I_uc003ayd.2_Silent_p.I350I|CACNA1I_uc003aye.2_Silent_p.I265I|CACNA1I_uc003ayf.2_Silent_p.I265I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	350	I.|Extracellular (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)									0.097561	3.760142	17.041967	8	74	KEEP	---	---	---	---	capture		Silent	SNP	40037181	40037181	2662	22	C	A	A	A	408	32	CACNA1I	2	2
TOB2	10766	broad.mit.edu	37	22	41832839	41832839	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41832839C>A	uc003azz.1	-	c.511G>T	c.(511-513)GCT>TCT	p.A171S		NM_016272	NP_057356	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	171					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				ovary(1)	1														0.081081	0.754432	27.154656	12	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41832839	41832839	16889	22	C	A	A	A	351	27	TOB2	1	1
NAGA	4668	broad.mit.edu	37	22	42461775	42461775	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42461775C>T	uc003bbx.2	-	c.726G>A	c.(724-726)GTG>GTA	p.V242V	NAGA_uc003bby.2_Silent_p.V242V|NAGA_uc003bbw.3_Silent_p.V242V	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	242					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1														0.1	2.60019	12.199063	6	54	KEEP	---	---	---	---	capture		Silent	SNP	42461775	42461775	10537	22	C	T	T	T	262	21	NAGA	2	2
TCF20	6942	broad.mit.edu	37	22	42610599	42610599	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42610599G>C	uc003bcj.1	-	c.713C>G	c.(712-714)TCT>TGT	p.S238C	TCF20_uc003bck.1_Missense_Mutation_p.S238C|TCF20_uc003bnt.2_Missense_Mutation_p.S238C	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	238	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)	4														0.04902	-17.72182	26.346546	10	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42610599	42610599	16216	22	G	C	C	C	429	33	TCF20	3	3
TTC38	55020	broad.mit.edu	37	22	46671251	46671251	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:46671251C>T	uc003bhi.2	+	c.472C>T	c.(472-474)CAG>TAG	p.Q158*	TTC38_uc011aqx.1_Intron	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	158							binding			ovary(1)	1														0.086957	1.733867	33.577816	16	168	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46671251	46671251	17261	22	C	T	T	T	377	29	TTC38	5	2
ZBED4	9889	broad.mit.edu	37	22	50277426	50277426	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50277426G>C	uc003bix.2	+	c.116G>C	c.(115-117)AGA>ACA	p.R39T		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	39						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)										0.031348	-55.850551	20.889247	10	309	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50277426	50277426	18104	22	G	C	C	C	429	33	ZBED4	3	3
POTEF	728378	broad.mit.edu	37	2	130832530	130832530	+	Missense_Mutation	SNP	C	A	A	rs2599795		TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130832530C>A	uc010fmh.2	-	c.2515G>T	c.(2515-2517)GTG>TTG	p.V839L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	839	Actin-like.					cell cortex	ATP binding			ovary(2)|skin(1)	3														0.06962	-5.958097	24.225048	11	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130832530	130832530	12695	2	C	A	A	A	221	17	POTEF	2	2
LCT	3938	broad.mit.edu	37	2	136552261	136552261	+	Silent	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136552261G>C	uc002tuu.1	-	c.5061C>G	c.(5059-5061)CTC>CTG	p.L1687L		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1687	Extracellular (Potential).|4.|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)										0.043716	-19.412569	21.35014	8	175	KEEP	---	---	---	---	capture		Silent	SNP	136552261	136552261	9017	2	G	C	C	C	470	37	LCT	3	3
LRP1B	53353	broad.mit.edu	37	2	141260574	141260575	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141260574_141260575GG>TT	uc002tvj.1	-	c.8619_8620CC>AA	c.(8617-8622)GACCAT>GAAAAT	p.2873_2874DH>EN		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2873_2874	Extracellular (Potential).|LDL-receptor class A 19.				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)			0.096774	5.308882	15.404805	6	56	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	141260574	141260575	9328	2	GG	TT	TT	TT	611	47	LRP1B	2	2
KCNJ3	3760	broad.mit.edu	37	2	155566153	155566153	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155566153C>T	uc002tyv.1	+	c.741C>T	c.(739-741)GAC>GAT	p.D247D	KCNJ3_uc010zce.1_Intron	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	247	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.098592	3.880355	15.320157	7	64	KEEP	---	---	---	---	capture		Silent	SNP	155566153	155566153	8357	2	C	T	T	T	233	18	KCNJ3	2	2
TTN	7273	broad.mit.edu	37	2	179569987	179569987	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179569987G>T	uc010zfg.1	-	c.25786C>A	c.(25786-25788)CGC>AGC	p.R8596S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5257S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3676										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				0.133333	5.27978	9.195695	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179569987	179569987	17290	2	G	T	T	T	507	39	TTN	1	1
ZNF804A	91752	broad.mit.edu	37	2	185802747	185802747	+	Nonsense_Mutation	SNP	T	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185802747T>G	uc002uph.2	+	c.2624T>G	c.(2623-2625)TTA>TGA	p.L875*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	875						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.16	48.329601	62.079211	20	105	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	185802747	185802747	18768	2	T	G	G	G	793	61	ZNF804A	5	4
D2HGDH	728294	broad.mit.edu	37	2	242681862	242681862	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242681862G>C	uc002wce.1	+	c.363G>C	c.(361-363)GAG>GAC	p.E121D	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_5'UTR|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	121	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|oxidation-reduction process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)										0.153846	9.982637	12.961069	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242681862	242681862	4379	2	G	C	C	C	425	33	D2HGDH	3	3
OXER1	165140	broad.mit.edu	37	2	42990262	42990262	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:42990262A>T	uc002rss.2	-	c.1058T>A	c.(1057-1059)GTG>GAG	p.V353E		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	353	Helical; Name=7; (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity				0														0.093023	3.554391	17.866701	8	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42990262	42990262	11744	2	A	T	T	T	78	6	OXER1	3	3
AAK1	22848	broad.mit.edu	37	2	69734606	69734606	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69734606G>C	uc002sfp.2	-	c.2111C>G	c.(2110-2112)TCC>TGC	p.S704C	AAK1_uc010fdk.2_Missense_Mutation_p.S704C|AAK1_uc010yqm.1_Missense_Mutation_p.S705C	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	704					protein phosphorylation	coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0										752				0.133333	8.37796	12.292838	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69734606	69734606	17	2	G	C	C	C	533	41	AAK1	3	3
PHLDB2	90102	broad.mit.edu	37	3	111671462	111671462	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111671462G>T	uc010hqa.2	+	c.2675G>T	c.(2674-2676)GGC>GTC	p.G892V	PHLDB2_uc003dyc.2_Missense_Mutation_p.G876V|PHLDB2_uc003dyd.2_Missense_Mutation_p.G849V|PHLDB2_uc003dyg.2_Missense_Mutation_p.G892V|PHLDB2_uc003dyh.2_Missense_Mutation_p.G849V|PHLDB2_uc003dyi.2_Intron	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	892						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)	4														0.133333	14.828878	26.587449	12	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111671462	111671462	12276	3	G	T	T	T	546	42	PHLDB2	2	2
WDR5B	54554	broad.mit.edu	37	3	122134359	122134359	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122134359G>A	uc003efa.1	-	c.17C>T	c.(16-18)TCA>TTA	p.S6L		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	6										ovary(3)	3				GBM - Glioblastoma multiforme(114;0.0704)										0.124402	29.998121	58.828945	26	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122134359	122134359	17882	3	G	A	A	A	585	45	WDR5B	2	2
KALRN	8997	broad.mit.edu	37	3	124174058	124174058	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124174058T>A	uc003ehg.2	+	c.3581T>A	c.(3580-3582)CTG>CAG	p.L1194Q	KALRN_uc010hrv.1_Missense_Mutation_p.L1185Q|KALRN_uc003ehf.1_Missense_Mutation_p.L1194Q|KALRN_uc011bjy.1_Missense_Mutation_p.L1185Q|KALRN_uc003ehh.1_Missense_Mutation_p.L540Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1194	Spectrin 5.				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				0.152381	25.822309	37.98909	16	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124174058	124174058	8279	3	T	A	A	A	715	55	KALRN	3	3
SGEF	26084	broad.mit.edu	37	3	153909105	153909105	+	Silent	SNP	A	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:153909105A>G	uc011bog.1	+	c.1668A>G	c.(1666-1668)GTA>GTG	p.V556V	SGEF_uc011boh.1_Silent_p.V556V	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	556	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.178571	13.859814	16.580625	5	23	KEEP	---	---	---	---	capture		Silent	SNP	153909105	153909105	14696	3	A	G	G	G	197	16	SGEF	4	4
BCHE	590	broad.mit.edu	37	3	165547424	165547424	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:165547424A>T	uc003fem.3	-	c.1398T>A	c.(1396-1398)CAT>CAA	p.H466Q	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	466		Charge relay system.			acetylcholine catabolic process|choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)									0.093023	8.805798	30.292972	12	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165547424	165547424	1379	3	A	T	T	T	102	8	BCHE	3	3
TTC14	151613	broad.mit.edu	37	3	180322027	180322027	+	Silent	SNP	A	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180322027A>G	uc003fkk.2	+	c.501A>G	c.(499-501)TTA>TTG	p.L167L	TTC14_uc003fkl.2_Silent_p.L167L|TTC14_uc003fkm.2_Silent_p.L167L	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	167	S1 motif.						RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)											0.113402	18.762403	33.056902	11	86	KEEP	---	---	---	---	capture		Silent	SNP	180322027	180322027	17235	3	A	G	G	G	167	13	TTC14	4	4
SLC4A7	9497	broad.mit.edu	37	3	27462219	27462219	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:27462219C>A	uc011aww.1	-	c.1484G>T	c.(1483-1485)CGA>CTA	p.R495L	SLC4A7_uc011awu.1_Non-coding_Transcript|SLC4A7_uc011awv.1_Non-coding_Transcript|SLC4A7_uc003cdu.3_Missense_Mutation_p.R367L|SLC4A7_uc011awx.1_Missense_Mutation_p.R482L|SLC4A7_uc011awy.1_Missense_Mutation_p.R478L|SLC4A7_uc011awz.1_Non-coding_Transcript|SLC4A7_uc011axa.1_Missense_Mutation_p.R367L|SLC4A7_uc011axb.1_Missense_Mutation_p.R482L|SLC4A7_uc010hfl.2_Missense_Mutation_p.R36L|SLC4A7_uc003cdv.2_Missense_Mutation_p.R486L|SLC4A7_uc003cdw.2_Missense_Mutation_p.R362L	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	486	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)	4														0.118644	8.092464	16.515653	7	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27462219	27462219	15155	3	C	A	A	A	403	31	SLC4A7	1	1
SUSD5	26032	broad.mit.edu	37	3	33216515	33216515	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:33216515C>T	uc003cfo.1	-	c.461G>A	c.(460-462)CGC>CAC	p.R154H		NM_015551	NP_056366	O60279	SUSD5_HUMAN	sushi domain containing 5 precursor	154	Extracellular (Potential).|Sushi.				cell adhesion	integral to membrane	hyaluronic acid binding			ovary(1)|central_nervous_system(1)	2														0.106061	4.879968	15.052737	7	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33216515	33216515	15931	3	C	T	T	T	351	27	SUSD5	1	1
ACVR2B	93	broad.mit.edu	37	3	38524628	38524628	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38524628G>T	uc003cif.2	+	c.1345_splice	c.e11-1	p.G449_splice	ACVR2B_uc003cig.2_Splice_Site_SNP_p.G240_splice	NM_001106	NP_001097			activin A receptor, type IIB precursor						activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|protein phosphorylation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)						107				0.085903	6.515836	85.404531	39	415	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	38524628	38524628	225	3	G	T	T	T	455	35	ACVR2B	5	2
ANO10	55129	broad.mit.edu	37	3	43474152	43474152	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:43474152A>T	uc003cmv.2	-	c.1865T>A	c.(1864-1866)ATG>AAG	p.M622K	ANO10_uc011azs.1_Intron|ANO10_uc003cmw.2_Missense_Mutation_p.M556K|ANO10_uc010hil.2_Missense_Mutation_p.M432K|ANO10_uc011azt.1_Missense_Mutation_p.M511K	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	622	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)	2														0.066038	-3.256572	17.444709	7	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43474152	43474152	704	3	A	T	T	T	104	8	ANO10	3	3
TRAIP	10293	broad.mit.edu	37	3	49879316	49879316	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49879316A>G	uc003cxs.1	-	c.560T>C	c.(559-561)ATG>ACG	p.M187T	TRAIP_uc010hla.1_Intron	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	187					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			lung(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.068966	-1.645464	9.489836	4	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49879316	49879316	16992	3	A	G	G	G	104	8	TRAIP	4	4
COL25A1	84570	broad.mit.edu	37	4	109841756	109841756	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:109841756G>A	uc003hze.1	-	c.713C>T	c.(712-714)CCT>CTT	p.P238L	COL25A1_uc003hzg.2_Missense_Mutation_p.P238L|COL25A1_uc003hzd.2_Non-coding_Transcript|COL25A1_uc003hzf.2_Missense_Mutation_p.P19L	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	238	Extracellular (Potential).|Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)										0.128571	15.02822	24.433096	9	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109841756	109841756	3822	4	G	A	A	A	455	35	COL25A1	2	2
SEC24D	9871	broad.mit.edu	37	4	119745815	119745815	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119745815C>A	uc003icj.3	-	c.208G>T	c.(208-210)GGT>TGT	p.G70C	SEC24D_uc003ici.3_Missense_Mutation_p.G70C|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	70	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0														0.07074	-13.703921	45.411797	22	289	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119745815	119745815	14483	4	C	A	A	A	273	21	SEC24D	2	2
TRPC3	7222	broad.mit.edu	37	4	122853827	122853827	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122853827T>A	uc003ieg.2	-	c.586A>T	c.(586-588)AAC>TAC	p.N196Y	TRPC3_uc010inr.2_Missense_Mutation_p.N123Y|TRPC3_uc003ief.2_Missense_Mutation_p.N123Y|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	111	Cytoplasmic (Potential).|ANK 3.				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2														0.079365	-0.626267	10.71055	5	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122853827	122853827	17130	4	T	A	A	A	819	63	TRPC3	3	3
MAP9	79884	broad.mit.edu	37	4	156281387	156281387	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156281387G>T	uc003ios.2	-	c.983C>A	c.(982-984)ACA>AAA	p.T328K	MAP9_uc011cin.1_Missense_Mutation_p.T303K|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.T327K	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	328	Potential.				cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)										0.096154	3.333305	11.839422	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156281387	156281387	9653	4	G	T	T	T	624	48	MAP9	2	2
NEK1	4750	broad.mit.edu	37	4	170321765	170321765	+	Silent	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170321765G>A	uc003isd.1	-	c.3621C>T	c.(3619-3621)TGC>TGT	p.C1207C	NEK1_uc003isb.1_Silent_p.C1179C|NEK1_uc003isc.1_Silent_p.C1135C|NEK1_uc003ise.1_Silent_p.C1163C|NEK1_uc003isf.1_Silent_p.C1110C	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1179					cell division|cilium assembly|mitosis|protein phosphorylation	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)					p.C1207C(639V-Tumor)	366				0.214286	6.316989	7.372774	3	11	KEEP	---	---	---	---	capture		Silent	SNP	170321765	170321765	10720	4	G	A	A	A	490	38	NEK1	1	1
HAUS3	79441	broad.mit.edu	37	4	2233854	2233854	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2233854G>C	uc003ges.1	-	c.1612C>G	c.(1612-1614)CAA>GAA	p.Q538E	POLN_uc003ger.2_5'Flank|POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Intron|HAUS3_uc003get.1_Missense_Mutation_p.Q538E	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	538					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle				large_intestine(2)|breast(2)	4														0.171429	17.227297	20.799063	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2233854	2233854	7249	4	G	C	C	C	585	45	HAUS3	3	3
RBM47	54502	broad.mit.edu	37	4	40434729	40434729	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40434729G>A	uc003gvc.2	-	c.1481C>T	c.(1480-1482)GCC>GTC	p.A494V	RBM47_uc003gvd.2_Missense_Mutation_p.A425V|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A456V	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	494	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(3)	3														0.113208	4.610854	12.439195	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40434729	40434729	13603	4	G	A	A	A	546	42	RBM47	2	2
AQPEP	206338	broad.mit.edu	37	5	115329519	115329519	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115329519G>A	uc003kro.2	+	c.1342G>A	c.(1342-1344)GTA>ATA	p.V448I	AQPEP_uc003krp.2_Non-coding_Transcript|AQPEP_uc003krq.2_5'Flank|AQPEP_uc003krr.2_5'Flank|AQPEP_uc003krs.2_5'Flank	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	448	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.096774	3.899502	14.005286	6	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115329519	115329519	845	5	G	A	A	A	468	36	AQPEP	2	2
PCDHGB2	56103	broad.mit.edu	37	5	140741283	140741283	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140741283C>T	uc003ljs.1	+	c.1581C>T	c.(1579-1581)GCC>GCT	p.A527A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Silent_p.A527A|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	527	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.138462	13.133862	21.348143	9	56	KEEP	---	---	---	---	capture		Silent	SNP	140741283	140741283	11983	5	C	T	T	T	301	24	PCDHGB2	2	2
ABLIM3	22885	broad.mit.edu	37	5	148617109	148617109	+	Nonsense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148617109T>A	uc003lpy.2	+	c.987T>A	c.(985-987)TAT>TAA	p.Y329*	ABLIM3_uc003lpz.1_Nonsense_Mutation_p.Y329*|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Nonsense_Mutation_p.Y329*|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	329					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.213115	100.736329	114.642672	39	144	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	148617109	148617109	97	5	T	A	A	A	660	51	ABLIM3	5	3
KIF4B	285643	broad.mit.edu	37	5	154397003	154397003	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154397003C>T	uc010jih.1	+	c.3584C>T	c.(3583-3585)TCG>TTG	p.S1195L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1195	Interaction with PRC1 (By similarity).|Globular (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.098592	4.370513	15.816322	7	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154397003	154397003	8615	5	C	T	T	T	403	31	KIF4B	1	1
CCNG1	900	broad.mit.edu	37	5	162866386	162866386	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:162866386G>A	uc003lzb.2	+	c.124G>A	c.(124-126)GAT>AAT	p.D42N	CCNG1_uc011dek.1_Intron|CCNG1_uc011del.1_Intron|CCNG1_uc003lzc.2_Intron	NM_199246	NP_954854	P51959	CCNG1_HUMAN	cyclin G1	42					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				lung(1)|kidney(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)						99				0.04878	-14.558478	12.059237	6	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162866386	162866386	3050	5	G	A	A	A	481	37	CCNG1	1	1
DOCK2	1794	broad.mit.edu	37	5	169111325	169111325	+	Silent	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169111325C>G	uc003maf.2	+	c.732C>G	c.(730-732)CTC>CTG	p.L244L	DOCK2_uc011der.1_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	244					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.083333	10.238388	50.473396	19	209	KEEP	---	---	---	---	capture		Silent	SNP	169111325	169111325	4871	5	C	G	G	G	405	32	DOCK2	3	3
CDH10	1008	broad.mit.edu	37	5	24487847	24487847	+	Nonsense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24487847G>C	uc003jgr.1	-	c.2292C>G	c.(2290-2292)TAC>TAG	p.Y764*	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	764	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.222689	161.054297	177.88012	53	185	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24487847	24487847	3225	5	G	C	C	C	568	44	CDH10	5	3
C7	730	broad.mit.edu	37	5	40931182	40931182	+	Missense_Mutation	SNP	A	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40931182A>G	uc003jmh.2	+	c.79A>G	c.(79-81)AAC>GAC	p.N27D	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	27	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)												0.097561	2.369802	9.019043	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40931182	40931182	2482	5	A	G	G	G	65	5	C7	4	4
ITGA1	3672	broad.mit.edu	37	5	52206136	52206136	+	Missense_Mutation	SNP	A	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52206136A>C	uc003jou.2	+	c.1744A>C	c.(1744-1746)AAT>CAT	p.N582H	ITGA1_uc003jov.2_Non-coding_Transcript|ITGA1_uc003jow.2_Missense_Mutation_p.N113H	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	582	Potential.|Extracellular (Potential).|FG-GAP 6.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(1)|lung(1)	2		Lung NSC(810;5.05e-05)|Breast(144;0.0851)												0.089286	5.75036	15.270756	5	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52206136	52206136	8176	5	A	C	C	C	65	5	ITGA1	4	4
ITGA2	3673	broad.mit.edu	37	5	52371076	52371076	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52371076G>A	uc003joy.2	+	c.2767G>A	c.(2767-2769)GAT>AAT	p.D923N	ITGA2_uc011cqa.1_Non-coding_Transcript|ITGA2_uc011cqb.1_Non-coding_Transcript|ITGA2_uc011cqc.1_Missense_Mutation_p.D847N|ITGA2_uc011cqd.1_Non-coding_Transcript|ITGA2_uc011cqe.1_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	923	Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)												0.065789	-4.692498	10.18412	5	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52371076	52371076	8179	5	G	A	A	A	585	45	ITGA2	2	2
RGNEF	64283	broad.mit.edu	37	5	73163757	73163757	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:73163757G>T	uc010izf.2	+	c.2209G>T	c.(2209-2211)GTG>TTG	p.V737L	RGNEF_uc003kcx.2_Missense_Mutation_p.V737L|RGNEF_uc011csq.1_Missense_Mutation_p.V737L|RGNEF_uc011csr.1_Missense_Mutation_p.V424L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	737					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)										0.101449	6.774659	17.70625	7	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73163757	73163757	13756	5	G	T	T	T	520	40	RGNEF	1	1
SEMA5A	9037	broad.mit.edu	37	5	9066574	9066574	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9066574C>A	uc003jek.2	-	c.2258G>T	c.(2257-2259)CGG>CTG	p.R753L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	753	TSP type-1 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.156627	71.198905	99.192491	39	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9066574	9066574	14523	5	C	A	A	A	299	23	SEMA5A	1	1
GCM2	9247	broad.mit.edu	37	6	10874367	10874367	+	Missense_Mutation	SNP	A	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:10874367A>T	uc003mzn.3	-	c.1382T>A	c.(1381-1383)GTG>GAG	p.V461E	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	461					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)												0.125	7.81903	14.411735	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10874367	10874367	6564	6	A	T	T	T	78	6	GCM2	3	3
LAMA4	3910	broad.mit.edu	37	6	112471753	112471753	+	Silent	SNP	T	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:112471753T>C	uc003pvu.2	-	c.2133A>G	c.(2131-2133)AGA>AGG	p.R711R	LAMA4_uc003pvv.2_Silent_p.R704R|LAMA4_uc003pvt.2_Silent_p.R704R	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	711	Domain II and I.|Potential.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)										0.144231	34.161407	46.82566	15	89	KEEP	---	---	---	---	capture		Silent	SNP	112471753	112471753	8931	6	T	C	C	C	751	58	LAMA4	4	4
HS3ST5	222537	broad.mit.edu	37	6	114378488	114378488	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:114378488C>T	uc003pwg.3	-	c.974G>A	c.(973-975)CGC>CAC	p.R325H	HS3ST5_uc003pwh.3_Missense_Mutation_p.R325H	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	325	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)										0.111111	19.403485	46.290262	20	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114378488	114378488	7662	6	C	T	T	T	351	27	HS3ST5	1	1
TSPYL4	23270	broad.mit.edu	37	6	116574053	116574053	+	Silent	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:116574053G>A	uc003pwn.2	-	c.1119C>T	c.(1117-1119)ATC>ATT	p.I373I	DSE_uc011ebf.1_5'Flank|TSPYL4_uc011ebe.1_Silent_p.I201I	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	373					nucleosome assembly	nucleus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)										0.227273	10.762284	12.265381	5	17	KEEP	---	---	---	---	capture		Silent	SNP	116574053	116574053	17214	6	G	A	A	A	577	45	TSPYL4	2	2
GPRC6A	222545	broad.mit.edu	37	6	117130667	117130667	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117130667C>A	uc003pxj.1	-	c.308G>T	c.(307-309)TGT>TTT	p.C103F	GPRC6A_uc003pxk.1_Missense_Mutation_p.C103F|GPRC6A_uc003pxl.1_Missense_Mutation_p.C103F	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	103	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)										0.142857	6.279395	9.723776	4	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117130667	117130667	7004	6	C	A	A	A	221	17	GPRC6A	2	2
C6orf204	387119	broad.mit.edu	37	6	118953676	118953676	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:118953676T>A	uc003pxz.1	-	c.172A>T	c.(172-174)AGT>TGT	p.S58C	C6orf204_uc003pya.1_Missense_Mutation_p.S61C|C6orf204_uc003pyb.2_Missense_Mutation_p.S58C|C6orf204_uc011ebj.1_5'UTR|C6orf204_uc003pyc.2_Missense_Mutation_p.S61C|C6orf204_uc011ebl.1_5'UTR	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN	chromosome 6 open reading frame 204 isoform a	58										breast(1)	1		all_cancers(87;0.0814)|all_epithelial(87;0.115)		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)										0.143836	34.166453	52.025291	21	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118953676	118953676	2458	6	T	A	A	A	715	55	C6orf204	3	3
TMEM200A	114801	broad.mit.edu	37	6	130762134	130762134	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130762134G>T	uc003qca.2	+	c.567G>T	c.(565-567)ATG>ATT	p.M189I	TMEM200A_uc010kfh.2_Missense_Mutation_p.M189I|TMEM200A_uc010kfi.2_Missense_Mutation_p.M189I|TMEM200A_uc003qcb.2_Missense_Mutation_p.M189I	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	189	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)						66				0.103774	7.740289	24.313946	11	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130762134	130762134	16658	6	G	T	T	T	611	47	TMEM200A	2	2
MAP3K4	4216	broad.mit.edu	37	6	161508851	161508851	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161508851C>T	uc003qtn.2	+	c.2688C>T	c.(2686-2688)CTC>CTT	p.L896L	MAP3K4_uc010kkc.1_Silent_p.L896L|MAP3K4_uc003qto.2_Silent_p.L896L|MAP3K4_uc011efz.1_Non-coding_Transcript|MAP3K4_uc011ega.1_Silent_p.L349L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	896					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)						511				0.218182	51.231816	59.293395	24	86	KEEP	---	---	---	---	capture		Silent	SNP	161508851	161508851	9635	6	C	T	T	T	366	29	MAP3K4	2	2
TTLL2	83887	broad.mit.edu	37	6	167753646	167753646	+	Silent	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167753646G>T	uc003qvs.1	+	c.258G>T	c.(256-258)CCG>CCT	p.P86P	TTLL2_uc011egr.1_Non-coding_Transcript	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	86	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.130841	21.283195	35.456529	14	93	KEEP	---	---	---	---	capture		Silent	SNP	167753646	167753646	17282	6	G	T	T	T	483	38	TTLL2	1	1
GPLD1	2822	broad.mit.edu	37	6	24462987	24462987	+	Silent	SNP	T	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24462987T>C	uc003ned.1	-	c.858A>G	c.(856-858)GCA>GCG	p.A286A	GPLD1_uc010jpr.1_Silent_p.A123A|GPLD1_uc010jps.1_Silent_p.A286A	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	286						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.A286A(1)		ovary(2)|kidney(1)	3														0.10559	16.362892	41.245883	17	144	KEEP	---	---	---	---	capture		Silent	SNP	24462987	24462987	6888	6	T	C	C	C	652	51	GPLD1	4	4
HLA-B	3106	broad.mit.edu	37	6	31323207	31323207	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31323207C>G	uc003nth.2	-	c.782G>C	c.(781-783)GGA>GCA	p.G261A	HLA-C_uc003ntb.2_Non-coding_Transcript|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Non-coding_Transcript|HLA-B_uc011dnk.1_Non-coding_Transcript|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.G140A|HLA-B_uc003nti.1_Non-coding_Transcript|HLA-B_uc010jsn.1_Non-coding_Transcript	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	261	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0														0.042857	-14.773226	16.607703	6	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31323207	31323207	7487	6	C	G	G	G	390	30	HLA-B	3	3
KIAA0240	23506	broad.mit.edu	37	6	42796705	42796705	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42796705C>T	uc003osn.1	+	c.634C>T	c.(634-636)CAA>TAA	p.Q212*	KIAA0240_uc003osm.1_Nonsense_Mutation_p.Q212*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.Q212*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.Q212*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.Q212*	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	212										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)											0.09901	12.475231	61.373394	30	273	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42796705	42796705	8471	6	C	T	T	T	377	29	KIAA0240	5	2
CUL7	9820	broad.mit.edu	37	6	43007936	43007936	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43007936G>C	uc011dvb.1	-	c.4504C>G	c.(4504-4506)CTG>GTG	p.L1502V	CUL7_uc010jyg.2_Missense_Mutation_p.L697V|CUL7_uc003otq.2_Missense_Mutation_p.L1418V|CUL7_uc010jyh.2_Missense_Mutation_p.L411V|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	1418					interspecies interaction between organisms|regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)											0.037815	-36.838974	18.17372	9	229	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43007936	43007936	4220	6	G	C	C	C	451	35	CUL7	3	3
ZNF318	24149	broad.mit.edu	37	6	43333100	43333100	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43333100T>A	uc003oux.2	-	c.478A>T	c.(478-480)AGC>TGC	p.S160C	ZNF318_uc003ouw.2_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	160					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(2)|breast(2)|central_nervous_system(1)	5			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)											0.130137	23.001262	42.500731	19	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43333100	43333100	18428	6	T	A	A	A	689	53	ZNF318	3	3
DST	667	broad.mit.edu	37	6	56382331	56382331	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56382331C>G	uc003pdf.2	-	c.11860G>C	c.(11860-11862)GAC>CAC	p.D3954H	DST_uc003pcz.3_Missense_Mutation_p.D3776H|DST_uc011dxj.1_Missense_Mutation_p.D3805H|DST_uc011dxk.1_Missense_Mutation_p.D3816H|DST_uc003pcy.3_Missense_Mutation_p.D3450H	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5862	Spectrin 10.				cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.125	6.507128	9.804491	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56382331	56382331	4967	6	C	G	G	G	416	32	DST	3	3
GJA10	84694	broad.mit.edu	37	6	90605301	90605301	+	Missense_Mutation	SNP	A	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90605301A>C	uc011eaa.1	+	c.1114A>C	c.(1114-1116)ACT>CCT	p.T372P		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	372	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)										0.126437	33.230455	56.932227	22	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90605301	90605301	6669	6	A	C	C	C	26	2	GJA10	4	4
ALKBH4	54784	broad.mit.edu	37	7	102100065	102100065	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:102100065C>G	uc003uzl.2	-	c.307G>C	c.(307-309)GGA>CGA	p.G103R	ALKBH4_uc003uzm.2_Missense_Mutation_p.G30R	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4	103					oxidation-reduction process	cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0														0.043478	-35.756632	20.72833	11	242	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102100065	102100065	532	7	C	G	G	G	273	21	ALKBH4	3	3
FEZF1	389549	broad.mit.edu	37	7	121942174	121942174	+	Silent	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121942174G>A	uc003vkd.2	-	c.1305C>T	c.(1303-1305)GGC>GGT	p.G435G	FEZF1_uc003vkc.2_Silent_p.G385G	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	435	Pro-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3														0.098765	3.452255	16.489897	8	73	KEEP	---	---	---	---	capture		Silent	SNP	121942174	121942174	6062	7	G	A	A	A	483	38	FEZF1	1	1
ZNF800	168850	broad.mit.edu	37	7	127014855	127014855	+	Nonsense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127014855T>A	uc010lla.2	-	c.535A>T	c.(535-537)AAA>TAA	p.K179*	ZNF800_uc003vlw.1_Nonsense_Mutation_p.K82*|ZNF800_uc003vlx.1_Nonsense_Mutation_p.K179*|ZNF800_uc003vly.1_Nonsense_Mutation_p.K179*	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	zinc finger protein 800	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.115702	12.878805	30.465253	14	107	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	127014855	127014855	18767	7	T	A	A	A	832	64	ZNF800	5	3
TRPV5	56302	broad.mit.edu	37	7	142605804	142605804	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142605804G>T	uc003wby.1	-	c.2066C>A	c.(2065-2067)TCC>TAC	p.S689Y		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	689	Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.070866	-8.127239	16.001654	9	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142605804	142605804	17150	7	G	T	T	T	533	41	TRPV5	2	2
OR2A14	135941	broad.mit.edu	37	7	143826479	143826479	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143826479T>A	uc011kua.1	+	c.274T>A	c.(274-276)TCC>ACC	p.S92T		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)													0.098485	25.198974	110.384475	52	476	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143826479	143826479	11382	7	T	A	A	A	702	54	OR2A14	3	3
TMEM176B	28959	broad.mit.edu	37	7	150493537	150493537	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150493537C>T	uc003wht.3	-	c.121G>A	c.(121-123)GGT>AGT	p.G41S	TMEM176B_uc003whu.3_Missense_Mutation_p.G41S|TMEM176B_uc003whv.3_Missense_Mutation_p.G41S|TMEM176B_uc003whw.3_Missense_Mutation_p.G41S	NM_001101313	NP_001094783	Q3YBM2	T176B_HUMAN	transmembrane protein 176B isoform a	41					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.106195	12.519936	29.920397	12	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150493537	150493537	16627	7	C	T	T	T	312	24	TMEM176B	2	2
SEMA3C	10512	broad.mit.edu	37	7	80418660	80418660	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:80418660G>T	uc011kgw.1	-	c.1370C>A	c.(1369-1371)GCT>GAT	p.A457D	SEMA3C_uc003uhj.2_Missense_Mutation_p.A439D	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	439	Sema.				immune response|response to drug	membrane	receptor activity			ovary(1)	1														0.071856	-5.937976	25.595262	12	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80418660	80418660	14512	7	G	T	T	T	442	34	SEMA3C	2	2
CACNA2D1	781	broad.mit.edu	37	7	81626548	81626548	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81626548G>T	uc003uhr.1	-	c.1609C>A	c.(1609-1611)CCA>ACA	p.P537T		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	556	Extracellular (Potential).|Cache.					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)									0.097222	3.965344	15.674488	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81626548	81626548	2664	7	G	T	T	T	546	42	CACNA2D1	2	2
ABCB1	5243	broad.mit.edu	37	7	87179864	87179864	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87179864C>T	uc003uiz.1	-	c.1144G>A	c.(1144-1146)GGG>AGG	p.G382R	ABCB1_uc011khc.1_Missense_Mutation_p.G318R	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	382	Cytoplasmic (Potential).					apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.063063	-8.771814	13.308378	7	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87179864	87179864	41	7	C	T	T	T	273	21	ABCB1	2	2
DPYS	1807	broad.mit.edu	37	8	105405013	105405013	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105405013C>A	uc003yly.3	-	c.1442G>T	c.(1441-1443)CGG>CTG	p.R481L	DPYS_uc010mcf.1_Missense_Mutation_p.R51L	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	481					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.095785	15.676947	58.460635	25	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105405013	105405013	4930	8	C	A	A	A	299	23	DPYS	1	1
ANGPT1	284	broad.mit.edu	37	8	108348464	108348464	+	Silent	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:108348464C>T	uc003ymn.2	-	c.489G>A	c.(487-489)CTG>CTA	p.L163L	ANGPT1_uc011lhv.1_5'UTR|ANGPT1_uc003ymo.2_Silent_p.L163L	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	163	Potential.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)	3	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)											0.08	-0.74282	8.259193	4	46	KEEP	---	---	---	---	capture		Silent	SNP	108348464	108348464	613	8	C	T	T	T	314	25	ANGPT1	2	2
TRPS1	7227	broad.mit.edu	37	8	116599248	116599248	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116599248C>T	uc003yny.2	-	c.2680G>A	c.(2680-2682)GAA>AAA	p.E894K	TRPS1_uc011lhy.1_Missense_Mutation_p.E885K|TRPS1_uc010mcy.2_Missense_Mutation_p.E881K|TRPS1_uc003ynz.2_Missense_Mutation_p.E881K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	881					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.060606	-10.717105	15.921802	8	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116599248	116599248	17144	8	C	T	T	T	377	29	TRPS1	2	2
MAPK15	225689	broad.mit.edu	37	8	144800454	144800454	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144800454C>A	uc003yzj.2	+	c.268C>A	c.(268-270)CTG>ATG	p.L90M		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	90	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)							103				0.078947	-1.714845	12.056172	6	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144800454	144800454	9660	8	C	A	A	A	311	24	MAPK15	2	2
PLEC	5339	broad.mit.edu	37	8	144991151	144991151	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144991151C>T	uc003zaf.1	-	c.13249G>A	c.(13249-13251)GTG>ATG	p.V4417M	PLEC_uc003zab.1_Missense_Mutation_p.V4280M|PLEC_uc003zac.1_Missense_Mutation_p.V4284M|PLEC_uc003zad.2_Missense_Mutation_p.V4280M|PLEC_uc003zae.1_Missense_Mutation_p.V4248M|PLEC_uc003zag.1_Missense_Mutation_p.V4258M|PLEC_uc003zah.2_Missense_Mutation_p.V4266M|PLEC_uc003zaj.2_Missense_Mutation_p.V4307M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4417	Globular 2.|Plectin 29.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.208333	28.783133	34.45959	15	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144991151	144991151	12478	8	C	T	T	T	247	19	PLEC	1	1
CTNNAL1	8727	broad.mit.edu	37	9	111745468	111745468	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:111745468T>A	uc004bdo.1	-	c.857A>T	c.(856-858)GAC>GTC	p.D286V	CTNNAL1_uc010mts.1_Missense_Mutation_p.D22V|CTNNAL1_uc010mtt.1_Missense_Mutation_p.D286V|CTNNAL1_uc004bdp.1_Missense_Mutation_p.D286V	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	286					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)										0.076923	-0.204666	6.940227	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111745468	111745468	4174	9	T	A	A	A	754	58	CTNNAL1	3	3
MTAP	4507	broad.mit.edu	37	9	21837988	21837988	+	Silent	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21837988G>A	uc003zph.2	+	c.429G>A	c.(427-429)CCG>CCA	p.P143P	MTAP_uc003zpi.1_Intron|MTAP_uc010mit.2_Non-coding_Transcript|MTAP_uc011lnk.1_Silent_p.P160P|MTAP_uc011lnl.1_Silent_p.P76P	NM_002451	NP_002442	Q13126	MTAP_HUMAN	5'-methylthioadenosine phosphorylase	143					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity			central_nervous_system(1)	1		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)					18				0.118211	36.336204	81.192081	37	276	KEEP	---	---	---	---	capture		Silent	SNP	21837988	21837988	10304	9	G	A	A	A	509	40	MTAP	1	1
TOPORS	10210	broad.mit.edu	37	9	32541658	32541658	+	Missense_Mutation	SNP	T	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32541658T>C	uc003zrb.2	-	c.2865A>G	c.(2863-2865)ATA>ATG	p.I955M	TOPORS_uc003zrc.2_Missense_Mutation_p.I888M	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	955					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent|visual perception	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)										0.101382	31.494206	65.880898	22	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32541658	32541658	16912	9	T	C	C	C	680	53	TOPORS	4	4
UBAP2	55833	broad.mit.edu	37	9	33948372	33948372	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:33948372C>A	uc003ztq.1	-	c.1270G>T	c.(1270-1272)GAC>TAC	p.D424Y	UBAP2_uc011loc.1_Missense_Mutation_p.D333Y|UBAP2_uc011lod.1_Missense_Mutation_p.D157Y|UBAP2_uc011loe.1_Missense_Mutation_p.D179Y|UBAP2_uc011lof.1_Missense_Mutation_p.D349Y|UBAP2_uc011log.1_Missense_Mutation_p.D370Y|UBAP2_uc003ztr.2_Missense_Mutation_p.D296Y|UBAP2_uc003zts.2_Missense_Mutation_p.D57Y	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	424										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)										0.114754	22.2041	48.919098	21	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33948372	33948372	17394	9	C	A	A	A	273	21	UBAP2	2	2
FRMPD1	22844	broad.mit.edu	37	9	37730993	37730993	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37730993G>T	uc004aag.1	+	c.751G>T	c.(751-753)GAG>TAG	p.E251*	FRMPD1_uc004aah.1_Nonsense_Mutation_p.E251*|FRMPD1_uc011lqm.1_Nonsense_Mutation_p.E73*|FRMPD1_uc011lqn.1_Nonsense_Mutation_p.E120*	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	251	FERM.					cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7				GBM - Glioblastoma multiforme(29;0.00655)										0.1	2.87616	18.871758	10	90	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	37730993	37730993	6307	9	G	T	T	T	533	41	FRMPD1	5	2
BTK	695	broad.mit.edu	37	X	100617167	100617167	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100617167C>A	uc010nno.2	-	c.684G>T	c.(682-684)GAG>GAT	p.E228D	BTK_uc004ehg.2_Missense_Mutation_p.E194D|BTK_uc010nnn.2_Missense_Mutation_p.E194D|BTK_uc004ehi.2_Missense_Mutation_p.E194D	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	194					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			central_nervous_system(2)|ovary(1)|lung(1)	4										247				0.110429	15.823582	40.306726	18	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100617167	100617167	1591	23	C	A	A	A	311	24	BTK	2	2
NXF5	55998	broad.mit.edu	37	X	101092628	101092628	+	Splice_Site_SNP	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101092628T>A	uc011mrk.1	-	c.920_splice	c.e15-1	p.Y307_splice	NXF5_uc004eih.1_Splice_Site_SNP|NXF5_uc004eii.1_Splice_Site_SNP|NXF5_uc004eij.1_Splice_Site_SNP|NXF5_uc004eik.1_Splice_Site_SNP|NXF5_uc004eil.1_Splice_Site_SNP	NM_032946	NP_116564			nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1														0.142157	46.149941	71.326	29	175	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	101092628	101092628	11191	23	T	A	A	A	689	53	NXF5	5	3
COL4A6	1288	broad.mit.edu	37	X	107400454	107400454	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107400454G>T	uc004enw.3	-	c.4852C>A	c.(4852-4854)CTG>ATG	p.L1618M	COL4A6_uc004env.3_Missense_Mutation_p.L1617M|COL4A6_uc011msn.1_Missense_Mutation_p.L1593M|COL4A6_uc010npk.2_Missense_Mutation_p.L1560M|COL4A6_uc011msm.1_Missense_Mutation_p.L152M|COL4A6_uc010npj.2_Missense_Mutation_p.L97M	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1618	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.11875	16.593135	39.480929	19	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107400454	107400454	3833	23	G	T	T	T	451	35	COL4A6	2	2
IRS4	8471	broad.mit.edu	37	X	107978239	107978239	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107978239G>T	uc004eoc.2	-	c.1336C>A	c.(1336-1338)CCT>ACT	p.P446T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	446						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|pancreas(1)	9														0.097959	13.24139	52.867378	24	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107978239	107978239	8146	23	G	T	T	T	559	43	IRS4	2	2
AMMECR1	9949	broad.mit.edu	37	X	109459811	109459811	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:109459811G>C	uc004eoo.2	-	c.634C>G	c.(634-636)CGG>GGG	p.R212G	AMMECR1_uc004eop.2_Missense_Mutation_p.R175G|AMMECR1_uc004eoq.2_Missense_Mutation_p.R89G	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	212	AMMECR1.										0														0.058824	-3.598612	13.72878	5	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109459811	109459811	581	23	G	C	C	C	519	40	AMMECR1	3	3
GRIA3	2892	broad.mit.edu	37	X	122318381	122318381	+	De_novo_Start_InFrame	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:122318381G>T	uc004etq.3	+	c.-7G>T	c.(-9--5)TAGGC>TATGC		GRIA3_uc004etr.3_De_novo_Start_InFrame|GRIA3_uc004ets.3_Non-coding_Transcript|GRIA3_uc011muf.1_5'Flank|GRIA3_uc010nqs.1_De_novo_Start_OutOfFrame	NM_007325	NP_015564			glutamate receptor, ionotrophic, AMPA 3 isoform						glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|pancreas(1)	4					L-Glutamic Acid(DB00142)					217				0.110236	23.899918	62.103285	28	226	KEEP	---	---	---	---	capture		De_novo_Start_InFrame	SNP	122318381	122318381	7047	23	G	T	T	T	443	35	GRIA3	5	2
IGSF1	3547	broad.mit.edu	37	X	130408770	130408770	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130408770C>A	uc004ewd.2	-	c.3554G>T	c.(3553-3555)GGA>GTA	p.G1185V	IGSF1_uc004ewe.3_Missense_Mutation_p.G1179V|IGSF1_uc004ewf.2_Missense_Mutation_p.G1165V	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1185	Extracellular (Potential).|Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.094092	9.574918	85.27332	43	414	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130408770	130408770	7897	23	C	A	A	A	390	30	IGSF1	2	2
TAZ	6901	broad.mit.edu	37	X	153641823	153641823	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153641823C>A	uc010nuy.2	+	c.343C>A	c.(343-345)CCT>ACT	p.P115T	DNASE1L1_uc004fku.1_5'Flank|DNASE1L1_uc004fkv.1_5'Flank|DNASE1L1_uc004fkw.1_5'Flank|TAZ_uc004fkx.2_Missense_Mutation_p.P97T|TAZ_uc004fky.2_Missense_Mutation_p.P97T|TAZ_uc004fkz.2_Non-coding_Transcript|TAZ_uc004fla.2_Missense_Mutation_p.P97T|TAZ_uc004flb.2_Missense_Mutation_p.P97T|TAZ_uc004flc.3_Missense_Mutation_p.P72T	NM_181312	NP_851829	Q16635	TAZ_HUMAN	tafazzin isoform 3	97					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.063694	-11.795284	19.38363	10	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153641823	153641823	16118	23	C	A	A	A	286	22	TAZ	2	2
MBTPS2	51360	broad.mit.edu	37	X	21887672	21887672	+	Silent	SNP	A	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:21887672A>G	uc004dae.2	+	c.846A>G	c.(844-846)CTA>CTG	p.L282L	MBTPS2_uc010nfr.2_5'UTR|MBTPS2_uc004dab.2_Silent_p.L282L	NM_015884	NP_056968	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase,	282	Lumenal (Probable).				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			ovary(1)	1														0.070064	0.128169	30.048869	11	146	KEEP	---	---	---	---	capture		Silent	SNP	21887672	21887672	9751	23	A	G	G	G	171	14	MBTPS2	4	4
PRDX4	10549	broad.mit.edu	37	X	23685884	23685884	+	Missense_Mutation	SNP	G	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:23685884G>T	uc004dam.2	+	c.197G>T	c.(196-198)CGG>CTG	p.R66L		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	peroxiredoxin 4	66					cell redox homeostasis|I-kappaB phosphorylation|oxidation-reduction process		thioredoxin peroxidase activity				0														0.084211	1.230257	17.906478	8	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23685884	23685884	12910	23	G	T	T	T	507	39	PRDX4	1	1
MAGEB1	4112	broad.mit.edu	37	X	30269436	30269436	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30269436G>C	uc004dcc.2	+	c.826G>C	c.(826-828)GCC>CCC	p.A276P	MAGEB1_uc004dcd.2_Missense_Mutation_p.A276P|MAGEB1_uc004dce.2_Missense_Mutation_p.A276P	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	276	MAGE.										0														0.149606	42.138621	57.09107	19	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30269436	30269436	9553	23	G	C	C	C	442	34	MAGEB1	3	3
SYP	6855	broad.mit.edu	37	X	49047927	49047927	+	Missense_Mutation	SNP	C	G	G			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49047927C>G	uc004dmz.1	-	c.909G>C	c.(907-909)CAG>CAC	p.Q303H	SYP_uc011mmz.1_Missense_Mutation_p.Q185H|SYP_uc004dna.1_Missense_Mutation_p.Q297H	NM_003179	NP_003170	P08247	SYPH_HUMAN	synaptophysin	303	Cytoplasmic (Potential).|Repeats, Gly-rich.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(315;0.00016)												0.1	2.075351	8.465519	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49047927	49047927	15982	23	C	G	G	G	311	24	SYP	3	3
AKAP4	8852	broad.mit.edu	37	X	49958059	49958059	+	Silent	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49958059T>A	uc004dow.1	-	c.1305A>T	c.(1303-1305)ATA>ATT	p.I435I	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.I257I|AKAP4_uc004dou.1_Silent_p.I426I	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	435					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)	7	Ovarian(276;0.236)									119				0.105023	18.39858	52.341056	23	196	KEEP	---	---	---	---	capture		Silent	SNP	49958059	49958059	456	23	T	A	A	A	680	53	AKAP4	3	3
AKAP4	8852	broad.mit.edu	37	X	49958061	49958061	+	Missense_Mutation	SNP	T	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49958061T>A	uc004dow.1	-	c.1303A>T	c.(1303-1305)ATA>TTA	p.I435L	AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.I257L|AKAP4_uc004dou.1_Missense_Mutation_p.I426L	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	435					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)	7	Ovarian(276;0.236)									119				0.104545	23.679701	57.882603	23	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49958061	49958061	456	23	T	A	A	A	637	49	AKAP4	3	3
SPANXN5	494197	broad.mit.edu	37	X	52825631	52825631	+	Missense_Mutation	SNP	C	T	T			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:52825631C>T	uc004drc.1	-	c.116G>A	c.(115-117)AGT>AAT	p.S39N		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	39											0	Ovarian(276;0.236)													0.08	0.502347	32.002385	14	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52825631	52825631	15502	23	C	T	T	T	260	20	SPANXN5	2	2
FAM123B	139285	broad.mit.edu	37	X	63411089	63411089	+	Missense_Mutation	SNP	G	C	C			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63411089G>C	uc004dvo.2	-	c.2078C>G	c.(2077-2079)CCA>CGA	p.P693R		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	693					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.105769	13.251063	29.30569	11	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63411089	63411089	5620	23	G	C	C	C	611	47	FAM123B	3	3
FAM123B	139285	broad.mit.edu	37	X	63412785	63412785	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63412785G>A	uc004dvo.2	-	c.382C>T	c.(382-384)CCC>TCC	p.P128S		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	128					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.087379	0.99843	18.78203	9	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63412785	63412785	5620	23	G	A	A	A	533	41	FAM123B	2	2
PJA1	64219	broad.mit.edu	37	X	68381829	68381829	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:68381829C>A	uc004dxh.2	-	c.1253G>T	c.(1252-1254)GGC>GTC	p.G418V	PJA1_uc011mpi.1_Missense_Mutation_p.G136V|PJA1_uc004dxg.2_Missense_Mutation_p.G230V|PJA1_uc004dxi.2_Missense_Mutation_p.G363V	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN	praja 1 isoform a	418							zinc ion binding				0														0.098684	5.185609	29.636858	15	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68381829	68381829	12385	23	C	A	A	A	338	26	PJA1	2	2
MED12	9968	broad.mit.edu	37	X	70340930	70340930	+	Silent	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70340930C>A	uc004dyy.2	+	c.663C>A	c.(661-663)CCC>CCA	p.P221P	MED12_uc011mpq.1_Silent_p.P221P|MED12_uc004dyz.2_Silent_p.P221P|MED12_uc004dza.2_Silent_p.P68P	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	221					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)													0.097297	6.414404	36.475049	18	167	KEEP	---	---	---	---	capture		Silent	SNP	70340930	70340930	9817	23	C	A	A	A	301	24	MED12	2	2
LPAR4	2846	broad.mit.edu	37	X	78010375	78010375	+	Missense_Mutation	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78010375C>A	uc010nme.2	+	c.9C>A	c.(7-9)GAC>GAA	p.D3E		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	3	Extracellular (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3														0.122222	17.167525	29.738198	11	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78010375	78010375	9280	23	C	A	A	A	220	17	LPAR4	2	2
PCDH11X	27328	broad.mit.edu	37	X	91134239	91134239	+	Silent	SNP	C	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91134239C>A	uc004efk.1	+	c.3000C>A	c.(2998-3000)ACC>ACA	p.T1000T	PCDH11X_uc004efl.1_Silent_p.T1000T|PCDH11X_uc004efo.1_Silent_p.T1000T|PCDH11X_uc010nmv.1_Silent_p.T1000T|PCDH11X_uc004efm.1_Silent_p.T1000T|PCDH11X_uc004efn.1_Silent_p.T1000T|PCDH11X_uc004efh.1_Silent_p.T1000T|PCDH11X_uc004efj.1_Silent_p.T1000T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1000	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.110577	21.162112	52.377888	23	185	KEEP	---	---	---	---	capture		Silent	SNP	91134239	91134239	11928	23	C	A	A	A	301	24	PCDH11X	2	2
SRPX2	27286	broad.mit.edu	37	X	99917179	99917179	+	Missense_Mutation	SNP	G	A	A			TCGA-44-3398-01	TCGA-44-3398-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99917179G>A	uc004egb.2	+	c.170G>A	c.(169-171)CGA>CAA	p.R57Q		NM_014467	NP_055282	O60687	SRPX2_HUMAN	sushi-repeat-containing protein, X-linked 2	57					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			ovary(2)	2														0.075	-2.20904	20.019531	9	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99917179	99917179	15679	23	G	A	A	A	481	37	SRPX2	1	1
